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Title Author Type Date Words
Nagwa Abdel Meguid: Egyptian geneticist defies social norms to bring up healthy generations. Nehal Samir Nov 19, 2021 1707
Scientists find link between gene mutations and male infertility. Oct 26, 2021 457
Gain Therapeutics announces topline data from iPSC study of STAR compounds. Sep 8, 2021 498
B-RAF V600E AND B-RAF CODON 464-469 MUTATIONS IN HAIRY CELL LEUKEMIA PATIENTS AND THEIR RELATION WITH CLINICAL PARAMETERS. Olgun, Aybuke; Basbinar, Yasemin; Alacacioglu, Inci; Solmaz, Serife; Akbarpour, Mahdi; Uysal, Tugba Sep 1, 2021 3484
Compound Heterozygous Mutations in the BBS-1 Gene and its Clinical Presentation: A Case Report. Michelen-Gomez, Eduardo; Guardiola-Davila, Gabriel; Izquierdo, Natalio J. Estudio de caso Sep 1, 2021 2690
Results of Special Neck Exercises in a Patient with Cerebellar Ataxia and Axial Myoclonus Due to ADCK3 Mutation/Serebellar Ataksi ve Aksiyal Miyoklonusu Olan ADCK3 Mutasyonlu Bir Olguda Ozel Boyun Egzersizlerinin Sonuclari. Menevse, Ozlem; Bilgin, Sevil; Gultekin, Murat Clinical report Sep 1, 2021 4328
Different Clinical Faces of the Same Gene Mutation: Fragile X Mental Retardation 1 Disorders/Ayni Gendeki Mutasyonlarin Farkli Yuzleri, FMR1 Iliskili Hastaliklar. Asma, Burcu; Ozyilmaz, Berk; Uyaroglu, Feray Gulec Clinical report Sep 1, 2021 1869
Mutant gene could be to blame for obesity in kids. DR MIRIAM STOPPARD Aug 30, 2021 433
Cardiac Gene Mutation in Sphynx Cats: Finding may provide a clue for disease development. Aug 11, 2021 263
Recent advances of targeted therapy in relapsed/ refractory acute myeloid leukemia. Ma, Jiale; Ge, Zheng Report Aug 1, 2021 10422
A novel homozygous exon2 deletion of TRIM32 gene in a Chinese patient with sarcotubular myopathy: A case report and literature review. Wei, Xiao-Jing; Miao, Jing; Kang, Zhi-Xia; Gao, Yan-Lu; Wang, Zi-Yi; Yu, Xue-Fan Clinical report Aug 1, 2021 3072
Bluebird bio Receives EC Approval for Skysona Gene Therapy for Patients Less Than 18 Years of Age with Early Cerebral Adrenoleukodystrophy Without Matched Sibling Donor. Jul 22, 2021 784
Mum and dad marry next to baby daughter's hospital bed so she can be bridesmaid; Six-month-old Layla suffers from CHARGE syndrome, a random genetic mutation that has affected her eating, vision, and heart and caused other complications. By, Nabeeha Miqtham & Graeme Murray Jul 4, 2021 487
Liquid biopsies easing diagnosis. Williams, Marisa L. Jul 1, 2021 1505
IFT122 Gene Mutation: It causes destruction of the photoreceptor, retinal dystrophy. Jun 27, 2021 254
VASCULAR ANOMALIES: Experts make case for molecular classification. Brunk, Doug Jun 1, 2021 1001
Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign. Inan, Ayse Hitay; Yilmaz, Berna Seker; Bulut, Fatma Derya; Kilavuz, Sebile; Kor, Deniz; Karakas, Meh Clinical report Jun 1, 2021 1429
HOLOPROSENCEPHALY: CHROMOSOMAL ABNORMALITIES IN THE ETIOPATHOGENESIS OF 127 ANTENATAL CASES/HOLOPROZENSEFALI: 127 ANTENATAL OLGUNUN ETYOPATOGENEZINDE KROMOZOM ANOMALILERI. Karaman, Birsen; Ergin, Selvi; Kayserili, Hulya; Yuksel, Atil; Satkin, Nihan Bilge; Kalelioglu, Ibra Clinical report May 23, 2021 4432
Bluebird bio Receives Positive CHMP Opinion for Skysona Gene Therapy for Patients Less Than 18 Years of Age with Early Cerebral Adrenoleukodystrophy. May 21, 2021 921
Translate Bio presents preclinical results in PCD at ATS 2021. May 18, 2021 383
'New hope' for some bowel cancer patients as treatment approved in Scotland; An "important milestone" has been hailed in cancer care as the first targeted treatment for bowel cancer with BRAF mutations has been approved by the Scottish Medicines Consortium. Elsa Maishman May 10, 2021 338
Modulatory effect of single nucleotide polymorphism in Xmn1, BCL11A and HBS1L-MYB loci on foetal haemoglobin levels in [beta]-thalassemia major and Intermedia patients. Bashir, Shabnam; Mahmood, Saqib; Mohsin, Shahida; Tabassum, Iqra; Ghafoor, Mahmood; Sajjad, Osheen Report May 2, 2021 2183
Pitfalls in the diagnosis of Gaucher disease in Iraq: A diagnostic experience from a developing country. Rabab Farhan Thejeal, Saja Baheer Abdul wahhab and Nebal Waill Saadi May 1, 2021 2989
Mum quits job to study her girl's rare condition; Mia-Rose, 6, is the only person with mutation. ELLIE FORBES reporters@dailyrecord.co.uk Mar 5, 2021 297
Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey. Ongen, Yasemin Denkboy; Eren, Erdal; Demirbas, Ozgecan; Sobu, Elif; Ellard, Sian; Franco, Elisa De; Report Mar 1, 2021 4776
Gynecologic manifestations in Emberger syndrome /Emberger sendromunda jinekolojik belirtiler. Yuksel, Hasan; Zafer, Emre Clinical report Mar 1, 2021 2113
Angioedema without wheals: a clinical update. Gulbahar, Okan Report Mar 1, 2021 7832
NEW APPROACHES TO EXPLAINING THE ETIOLOGY IN RECURRENT PREGNANCY LOSSES/TEKRARLAYAN GEBELIK KAYIPLARINDA ETIYOLOJININ ACIKLANMASINA YONELIK YENI YAKLASIMLAR. Berkay, Ezgi Gizem; Basaran, Seher Medical condition overview Mar 1, 2021 4882
Critical blood disorders couples should consider. Feb 22, 2021 688
Biocept to present study showcasing its ultra-sensative Target Selector biopsy assay kits at a virtual medical conference this week. Conference news Feb 17, 2021 616
Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation. Ciorba, Andrea; Corazzi, Virginia; Melegatti, Michela; Morgan, Anna; Pelliccione, Giulia; Girotto, G Jan 1, 2021 1783
Exploring the Genetic Diversity of Isolated Hypogonadotropic Hypogonadism and Its Phenotypic Spectrum: A Case Series. Danda, Vijay Sheker Reddy; Paidipelly, Srinivas Rao; Verepula, Madhavi; Lodha, Piyush; Thaduri, Kris Jan 1, 2021 5371
Corrigendum to "Genetic Mutations of Tim-3 Ligand and Exhausted Tim-3[sup.+] CD8[sup.+] T Cells and Survival in Diffuse Large B Cell Lymphoma". Zhang, Tingting; Ren, Tianyuan; Song, Zheng; Zhao, Jing; Jiao, Lei; Zhang, Zhenzhen; He, Jin Correction notice Jan 1, 2021 481
Identification of Novel Compound Heterozygous MYO15A Mutations in Two Chinese Families with Autosomal Recessive Nonsyndromic Hearing Loss. Wang, Xiao-Hui; Xie, Le; Chen, Sen; Xu, Kai; Bai, Xue; Jin, Yuan; Qiu, Yue Jan 1, 2021 4890
a -Synuclein E46K Mutation and Involvement of Oxidative Stress in a Drosophila Model of Parkinson's Disease. Reiszadeh Jahromi, Samaneh; Ramesh, S. R.; Finkelstein, David I.; Haddadi, Mohammad Jan 1, 2021 7464
Echocardiographic Features of Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy. Marchel, Michal; Madej-Pilarczyk, Agnieszka; Tyminska, Agata; Steckiewicz, Roman; Kochanowski, Janus Jan 1, 2021 5163
Heritable Thrombophilia in Venous Thromboembolism in Northern Pakistan: A Cross-Sectional Study. Khan, Maria; Altaf, Chaudhry; Saeed Malik, Hamid; Abdul Naeem, Muhammad; Latif, Aamna Jan 1, 2021 3326
Efflux Pump Activity and Mutations Driving Multidrug Resistance in Acinetobacter baumannii at a Tertiary Hospital in Pretoria, South Africa. Nogbou, Noel-David; Nkawane, Granny M.; Ntshane, Khanyisa; Wairuri, Charles K.; Phofa, Dikwata T.; M Jan 1, 2021 7758
Recurrent Germline Mutations of CHEK2 as a New Susceptibility Gene in Patients with Pheochromocytomas and Paragangliomas. Gao, Yinjie; Ling, Chao; Ma, Xiaosen; Wang, Huiping; Cui, Yunying; Nie, Min; Tong, Anli Clinical report Jan 1, 2021 5615
Different Phenotypes Caused by the Unique Mutation in the Same Family with Mitochondrial Encephalomyopathy. Hai-ping Xia, Feng-Nan Niu, Biao Jin, Kang-Ren Zhao, Rui Ma and Ming Yu Dec 31, 2020 1696
Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism. Ustkoyuncu, Pembe Soylu; Gokay, Songul; Eren, Esra; Dogan, Durmus; Yildiz, Gokce; Yilmaz, Aysegul; M Clinical report Dec 1, 2020 2611
A Case Report of Pycnodysostosis Associated with Multiple Pituitary Hormone Deficiencies and Response to Treatment. Verma, Vishesh; Singh, R.K. Clinical report Dec 1, 2020 2615
Pharaoh's Gift: Was Ancient Nubia the Land of Milk and Camels? Reinbold, Stephen L. Dec 1, 2020 6239
Tunisian research within two weeks to identify genetic mutations in SARS-Cov 2. Nov 5, 2020 298
Coronavirus mutation may have made it more contagious, study warns; Researchers from the University of Texas, Austin, have analysed more than 5,000 Covid-19 patients to understand how the SARS-CoV-2 virus has mutated. By, Shivali Best Nov 2, 2020 263
Snapshot Study of Whole Genome Sequences of Escherichia coli from Healthy Companion Animals, Livestock, Wildlife, Humans and Food in Italy. Massella, Elisa; Reid, Cameron J.; Cummins, Max L.; Anantanawat, Kay; Zingali, Tiziana; Serraino, An Nov 1, 2020 11193
MEDULLARY THYROID CANCER--FEATURE REVIEW AND UPDATE ON SYSTEMIC TREATMENT/MEDULARNI KARCINOM STITNJACE--PREGLED ZNACAJKI I NOVOSTI U SUSTAVNOM LIJECENJU. Dabelic, Nina; Jukic, Tomislav; Frobe, Ana Disease/Disorder overview Nov 1, 2020 6304
DRINKING COFFEE MAY PROTECT SOME PEOPLE AGAINST PARKINSON'S. Oct 17, 2020 706
Doses Delivered to Patients and Associated Risks from Conventional Radiological Scans in Yasuj City, Iran. Hassanvand, Amin; Masjedi, Hamid Reza; Vafapure, Hassan; Zamani, Hamed; Yazdi, Shiva Rahbar; Zare, M Oct 5, 2020 7943
Combination Therapy Using Low-Concentration Oxacillin with Palmitic Acid and Span85 to Control Clinical Methicillin-Resistant Staphylococcus aureus. Song, Hun-Suk; Choi, Tae-Rim; Bhatia, Shashi Kant; Lee, Sun Mi; Park, Sol Lee; Lee, Hye Soo; Kim, Yu Report Oct 1, 2020 5258
The importance of Mediterranean fever gene in familial Mediterranean fever. Kehribar, Demet Yalcin; Ozgen, Metin Report Oct 1, 2020 2635
An oncologist's view on screening mammography. Tkaczuk, Katherine H. Oct 1, 2020 1894
Gut bacteria could reveal cures for major diseases. DR MIRIAM STOPPARD Sep 25, 2020 412
Gut bacteria could reveal cures for major diseases; DR MIRIAM STOPPARD 38 DAILY MIRROR FRIDAY 25.09.2020. Sep 25, 2020 407
AstraZeneca, Merck announce final results from Phase III PROfound trial. Sep 20, 2020 184
MyoKardia doses first patient in Phase 2 trial of danicamtiv. Sep 9, 2020 413
Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency. Bulut, Fatma Derya; Dilek, Semine Ozdemir; Kotan, Damla; Mengen, Eda; Gurbuz, Fatih; Yuksel, Bilgin Sep 1, 2020 5584
Exploring the Genetic Background of the Differences in Nest-Building Behavior in European Rabbit. Benedek, Ildiko; Altbacker, Vilmos; C., Attila Zsolnai; Molnar, Tamas Report Sep 1, 2020 6455
Investigating the Polymorphism of Bone Morphogenetic Protein Receptor-1B (BMPR1B) Gene in Markhoz Goat Breed. Dogaheh, Sheila Pourali; Mirhoseini, Seyed Ziaeddin; Tufarelli, Vincenzo Report Sep 1, 2020 3348
The effect of [BRAF.sup.V600E] mutation on lymph node involvement in papillary thyroid cancer / Papiller tiroid kanserli hastalarda [BRAF.sup.V600E] mutasyonunun bolgesel lenf nodu tutulumuna etkisi. Sahin, Samet; Daglar, Gul; Menekse, Ebru; Cavdarli, Busranur; Baglan, Tolga Sep 1, 2020 4141
Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases. Li, Yian; Li, Jiakai; Zhang, Xiang; Peng, Jie; Li, Jing; Zhao, Peiquan Aug 31, 2020 4515
The Development and Application of a Base Editor in Biomedicine. Wang, Fang; Zeng, Yuqiang; Wang, Yi; Niu, Yuyu Report Aug 31, 2020 8466
Clinical Significance of PIK3CA Gene in Non-Small-Cell Lung Cancer: A Systematic Review and Meta-Analysis. Wang, Yi; Wang, Yan; Li, Jialong; Li, Jue; Che, Guowei Report Aug 31, 2020 4984
Clinical Efficacy Evaluation of Sirolimus in Congenital Hyperinsulinism. Hashemian, Somayyeh; Esfehani, Reza Jafarzadeh; Karimdadi, Siroos; Vakili, Rahim; Zamanfar, Daniel; Aug 31, 2020 3568
Focal Segmental Glomerulosclerosis and Scheduled Pretransplant Plasmapheresis: A Timely Diagnosis of Nail-Patella Syndrome Avoided More Futile Immunosuppression. Trimarchi, H. Aug 31, 2020 2765
Colonic Adenocarcinoma at Advanced Stage in Adolescence: Report of 2 Cases. Vundamati, Divya S.; Chen, Xiuxu; Singh, Vivekanand Aug 31, 2020 1687
"Isolated" Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case. Bonnet, Anne-Laure; Sceosole, Kevin; Vanderzwalm, Arabelle; Silve, Caroline; Collignon, Anne-Margaux Aug 31, 2020 3382
Cinema Science: Coronavirus Through the Lens of Contagion. Crewe, Dave Aug 1, 2020 2525
Delineation of the Germline and Somatic Mutation Interaction Landscape in Triple-Negative and Non-Triple-Negative Breast Cancer. Wu, Jiande; Mamidi, Tarun K.K.; Zhang, Lu; Hicks, Chindo Jul 31, 2020 11240
Myriad Genetics announces publication of two riskScore analyses. Jul 7, 2020 299
A large Turkish pedigree with multiple endocrine neoplasia type 1 syndrome carrying a rare mutation: c.1680_1683 del TGAG. Demirtas, Coskun Ozer; Ata, Pinar; Cetin, Ali; Turkyilmaz, Ayberk; Duman, Deniz Guney Jul 1, 2020 3630
Novel Mutations with Clinical Variability and Surgical Experience in Van der Woude Syndrome. Ceylan, Ahmet Cevdet; Ozgur, Figen; Vargel, Ibrahim Jul 1, 2020 2653
A large Turkish pedigree with multiple endocrine neoplasia type 1 syndrome carrying a rare mutation: c.1680_1683 del TGAG. Demirtas, Coskun Ozer; Ata, Pinar; Cetin, Ali; Turkyilmaz, Ayberk; Duman, Deniz Guney Jul 1, 2020 3691
Germline Mutation in KIF1B[beta] Gene Associated with Loss of Heterozygosity: Usefulness of Next-Generation Sequencing in the Genetic Screening of Patients with Pheochromocytoma. De Filpo, Giuseppina; Contini, Elisa; Serio, Viola; Valeri, Andrea; Chetta, Massimiliano; Guasti, Da Jun 30, 2020 4564
Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data. Long, Wei; Zhou, Lingna; Wang, Ying; Liu, Jiaxuan; Wang, Huaiyan; Yu, Bin Jun 30, 2020 5410
Identification of 5 Gene Signatures in Survival Prediction for Patients with Lung Squamous Cell Carcinoma Based on Integrated Multiomics Data Analysis. Ma, Hongxia; Tong, Lihong; Zhang, Qian; Chang, Wenjun; Li, Fengsen Jun 30, 2020 7593
Ganab Haploinsufficiency Does Not Cause Polycystic Kidney Disease or Polycystic Liver Disease in Mice. Geng, Guangrui; Xiao, Yunming; Zhang, Yingjie; Shen, Wanjun; Liu, Jiaona; Zhu, Fei; Wang, Xu; Wu, Ji Jun 30, 2020 3703
Application Areas of Traditional Molecular Genetic Methods and NGS in relation to Hereditary Urological Cancer Diagnosis. Mikhaylenko, Dmitry S.; Tanas, Alexander S.; Zaletaev, Dmitry V.; Nemtsova, Marina V. Jun 30, 2020 10369
A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion. Baldi, Salem; Zhu, Jin-Ling; Hu, Qing-Yun; Wang, Ju-Li; Zhang, Jin-Bo; Zhang, Shu-Hong Jun 30, 2020 4732
Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3. Saleem, Komal; Cui, Qingbo; Zaib, Tahir; Zhu, Siqi; Qin, Qian; Wang, Yusi; Dam, Jinxi; Ji, Wei; Liu, Jun 30, 2020 6011
FREQUENCY OF MPL AND JAK2 EXON12 GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS. Sana Latif, Saleem Ahmed Khan, Asad Mahmood and Rafia Mahmood Jun 30, 2020 2460
Case Report: Homozygous C677T MTHFR Gene Mutation in Male with Hypogonadism. Salameh, Rami; Miah, Mumtaheena; Anastasopoulou, Catherine Jun 30, 2020 1201
Consanguinity, the driving force behind inheritance of HbS-[beta] thalassemia in Southern Districts of KP. Khan, Jabbar; Muhammad, Dost; Ismail, Muhammad; Khan, Inamullah; Rehman, Zia ur; Niaz, Shahid Report Jun 16, 2020 3814
Human Stem Cells Modeled To Identify Degeneration In Glaucoma. Jun 15, 2020 613
A Case of Late-onset Hyperinsulinemic Hypoglycemia: HNF4A Mutation. Arslan, Gulcin; Acar, Sezer; Ozdemir, Taha Resid; Nalbantoglu, Ozlem; Kirbiyik, Ozgur; Koprulu, Ozge Jun 1, 2020 2855
Solitary Juvenile Colonic Polyp Presenting Anaemia in Patients with Neurofibromatosis Type 1: A Case Report/Norofibromatozis Tip 1 Hastasinda Anemi ile Seyreden Izole Kolon Juvenil Polip: Olgu Sunumu. Bostanci, Mustafa Taner; Yilmaz, Ibrahim; Saydam, Mehmet; Seki, Ahmet Jun 1, 2020 1433
Discovery of a Novel Mutation in DNA Gyrase and Changes in the Fluoroquinolone Resistance of Helicobacter pylori over a 14-Year Period: A Single Center Study in Korea. Rhie, Su Yeon; Park, Jae Yong; Shin, Tae-Seop; Kim, Jeong Wook; Kim, Beom Jin; Kim, Jae Gyu Report Jun 1, 2020 6387
Clinical and Genetic Analyses of 38 Chinese Patients with Peutz-Jeghers Syndrome. Wu, Bo-Da; Wang, Yong-Jun; Fan, Liang-Liang; Huang, Hui; Zhou, Peng; Yang, Mei; Shi, Xiao-Liu May 31, 2020 4849
Mucinous Histology, BRCA1/2 Mutations, and Elevated Tumor Mutational Burden in Colorectal Cancer. Harpaz, Noa; Gatt, Yair Eli; Granit, Roy Zvi; Fruchtman, Hila; Hubert, Ayala; Grinshpun, Albert Clinical report May 31, 2020 6150
Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous KCNQ1 Mutation in a Chinese Family. Qiu, Yue; Chen, Sen; Wu, Xia; Zhang, Wen-Juan; Xie, Wen; Jin, Yuan; Xie, Le; Xu, Kai; Bai, Xue; Zhan May 31, 2020 4787
Regulation of Iron Homeostasis and Related Diseases. Li, Yikun; Huang, Xiali; Wang, Jingjing; Huang, Ruiling; Wan, Dan May 31, 2020 8903
The genetic landscape of COVID-19: A South Asian perspective. Thomas, Vineeth; Audsley, Jennifer; Kapoor, Nitin Report May 31, 2020 2577
AstraZeneca's And Merck's Lynparza Approved In US For Prostate Cancer. May 20, 2020 211
Research Into Stem Cell Mutations Could Improve Regenerative Medicine. May 18, 2020 252
Novel GNE mutations in three Chinese patients with typical GNE myo-pathy. Ban, Rui; Lu, Xianghui; Pu, Chuanqiang; Shi, Qiang; Wang, Huifang; Liu, Huaxu; Zhang, Yutong Clinical report May 12, 2020 2706
Diabetes Reversed In Mice With CRISPR-Edited Stem Cells. May 4, 2020 829
Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review. Sun, LiuQing; Shen, DingGuo; Xiong, Ting; Zhou, Zhibin; Lu, Xianghui; Cui, Fang Clinical report May 1, 2020 3060
USPSTF round-up: The Task Force now recommends that physicians take steps to prevent perinatal depression and has modified its recommendation on lead screening. Campos-Outcalt, Doug May 1, 2020 2402
22KD Zein Content Coordinates Transcriptional Activity during Starch Synthesis in Maize Endosperm. Sandrine, Ada Menie Nelly; Zhao, Hailiang; Qin, Yao; Sun, Qin; Gong, Dianming; Pan, Zhenyuan; Qiu, F May 1, 2020 6343
Computational Study to Identify the Effects of the KCNJ2 E299V Mutation in Cardiac Pumping Capacity. Jeong, Da Un; Lee, Jiyeong; Lim, Ki Moo Apr 30, 2020 6368
Molecular Assessment of Resistance to Clarithromycin in Helicobacter pylori Strains Isolated from Patients with Dyspepsia by Fluorescent In Situ Hybridization in the Center of Iran. Vazirzadeh, Jina; Falahi, Jamal; Moghim, Sharareh; Narimani, Tahmineh; Rafiei, Rahmatollah; Karbasiz Apr 30, 2020 4644
RAS Mutational Status Detection in Tissue, Plasma, and Stool Samples for Colorectal Cancer. Zhu, Liuying; Wang, Yuanhe; Zhou, Yang; Dong, Qian; Liu, Yunpeng; Zhang, Jingdong Apr 30, 2020 4465
FREQUENCY OF CALR GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS. Sana Latif, Saleem Ahmed Khan, Asad Mahmood, Helen Mary Robert and Rafia Mahmood Armed Apr 30, 2020 2496
Lung Transplantation in a Patient with COPA Syndrome. Mallea, Jorge M.; Kornafeld, Anna; Khoor, Andras; Erasmus, David B. Apr 30, 2020 824
Thrombophilic Risk of Factor V Leiden, Prothrombin G20210A, MTHFR, and Calreticulin Mutations in Essential Thrombocythemia Egyptian Patients. El-Ghonemy, Mohamed S.; Sharawy, Solafa El; Fahmi, Maryan Waheeb; El-Ashwah, Shaimaa; Denewer, May; Apr 30, 2020 3978
Short Communication - Polymorphism Analysis of FMO3 Gene in Egg Quail. Bai, Jun Yan; Jia, Xiao Ping; Wu, Xiao Hong; Li, Guang Lu; Cao, Heng; Fu, Xue Yan; Shi, Kun Peng Report Apr 10, 2020 2565
Bilateral Paget's Disease of the Breast in a Patient with CHEK2 Mutation. Owusu-Brackett, Nicci; Menon, Preethi Dileep; Nazarullah, Alia; Jatoi, Ismail; Elmi, Maryam Apr 1, 2020 1515
Acquisition of Colistin Resistance Links Cell Membrane Thickness Alteration with a Point Mutation in the lpxD Gene in Acinetobacter baumannii. Saleh, Neveen M.; Hesham, Marwa S.; Amin, Magdy A.; Mohamed, Reham Samir Report Apr 1, 2020 6921
[NF.sub.1] microdeletion syndrome: a phenotypical characterization of a rare case of neurofibromatosis type 1. Lopes, Jorge; Teixeira, Diogo; Sousa, Cristina; Baptista, Armando; Ferreira, Eduarda Osorio Apr 1, 2020 1432
Beta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq. Amin, Shaema Salih; Jalal, Sana Dlawar; Ali, Kosar Muhammed; Mohammed, Ali Ibrahim; Rasool, Luqman K Mar 31, 2020 8254
Gene Expression Analysis of Human Papillomavirus-Associated Colorectal Carcinoma. Qiu, Qiancheng; Li, Yazhen; Fan, Zhiqiang; Yao, Fen; Shen, Wenjun; Sun, Jiayu; Yuan, Yumeng; Chen, J Mar 31, 2020 8239
Response to Dabrafenib and Trametinib of a Patient with Metaplastic Breast Carcinoma Harboring a BRAF V600E Mutation. Seo, Takuji; Noguchi, Emi; Yoshida, Masayuki; Mori, Taisuke; Tanioka, Maki; Sudo, Kazuki; Shimomura, Mar 31, 2020 3133
A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer. Robbins, Richard J.; Thomas, Jessica S.; Osuna, Patricia Mejia; Shakil, Jawairia Mar 31, 2020 1427
Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family. Li, Bin; Lu, Bin; Guo, Xuewen; Hu, Shenghui; Zhao, Guihu; Huang, Weihong; Hu, Jianzhong; Song, Kun Mar 31, 2020 5693
Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework. Cheng, Liting; Li, Xiaoyan; Zhao, Lin; Wang, Zefeng; Zhang, Junmeng; Liang, Zhuo; Wu, Yongquan Mar 31, 2020 6939
Whole-Genome Resequencing of Twenty Branchiostoma belcheri Individuals Provides a Brand-New Variant Dataset for Branchiostoma. Bi, Changwei; Lu, Na; Han, Tingyu; Huang, Zhen; Chen, J.-Y.; He, Chunpeng; Lu, Zuhong Mar 1, 2020 11096
Characterizations of Gene Alterations in Melanoma Patients from Chinese Population. Luo, Yi; Zhang, Zhenzhen; Liu, Jianfan; Li, Linqing; Xu, Xuezheng; Yao, Xinyu; Dai, Zixun; Wang, Xin Mar 1, 2020 5224
Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His. Aashiq, Mohamed; Malallah, Asma Jassim; Khan, Farheen; Alsada, Maryam Mar 1, 2020 2223
Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors. Terrones-Lozano, Alejandro; Hernandez-Hernandez, Alan; Vera, Edgar Nathal; Guinto-Nishimura, Gerardo Mar 1, 2020 3581
Effects of BRCA Germline Mutations on Triple-Negative Breast Cancer Prognosis. Pogoda, Katarzyna; Niwinska, Anna; Sarnowska, ElZbieta; Nowakowska, Dorota; Jagiello-Gruszfeld, Agni Mar 1, 2020 5613
Baricitinib in therapy of COPA syndrome in a 15-year-old girl. Krutzke, Sophia; Rietschel, Christoph; Horneff, Gerd Mar 1, 2020 3068
Investigation of TGFBI (transforming growth factor beta-induced) Gene Mutations in Families with Granular Corneal Dystrophy Type 1 in the Konya Region. Malkondu, Fatma; Arikoglu, Hilal; Kaya, Dudu Erkoc; Bozkurt, Banu; Ozkan, Fehmi Mar 1, 2020 4051
Whole Genome Sequencing for the Analysis of Drug Resistant Strains of Mycobacterium tuberculosis: A Systematic Review for Bedaquiline and Delamanid. Ramirez, Luisa Maria Nieto; Vargas, Karina Quintero; Diaz, Gustavo Report Mar 1, 2020 7087
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia. Isik, Esra; Onay, Huseyin; Atik, Tahir; Solmaz, Asli Ece; Ozen, Samim; Cogulu, Ozgur; Darcan, Sukran Mar 1, 2020 1970
Osseous Findings in Sickle Cell Disease. Kennedy, Daniel P.; Hooker, Jeffrey D.; Morris, Robert W. Mar 1, 2020 1651
20 Most rare diseases. Feb 27, 2020 1724
Screening of Deletion Variants within the Goat PRDM6 Gene and Its Effects on Growth Traits. Wang, Zhen; Wang, Congliang; Guo, Yongni; She, Shuaishuai; Wang, Baojing; Jiang, Yuru; Bai, Yangyang Report Feb 1, 2020 5811
Verification and Analysis of Sheep Tail Type-Associated PDGF-D Gene Polymorphisms. Li, Qing; Lu, Zengkui; Jin, Meilin; Fei, Xiaojuan; Quan, Kai; Liu, Yongbin; Ma, Lin; Chu, Mingxing; Report Jan 1, 2020 5850
Evaluation of SCD, ACACA and FASN Mutations: Effects on Pork Quality and Other Production Traits in Pigs Selected Based on RNA-Seq Results. Piorkowska, Katarzyna; Malopolska, Martyna; Ropka-Molik, Katarzyna; Szyndler-Nedza, Magdalena; Wiech Report Jan 1, 2020 9277
Characteristics of Children with Alagille Syndrome at Children's Hospital No. 1, Vietnam. Van Ta, Tram; Nguyen, Truong Viet; Pham, Hien The; Nguyen, Tuan Anh Report Jan 1, 2020 2567
Next-Generation Sequencing Panel Analysis of Clinically Relevant Mutations in Circulating Cell-Free DNA from Patients with Gestational Trophoblastic Neoplasia: A Pilot Study. Luo, Lingxiao; Lin, Ling; Zhang, Xiaoyan; Cai, Qingqing; Zhao, Hongbo; Xu, Congjian; Cong, Qing Report Jan 1, 2020 4380
Auditory Neuropathy Spectrum Disorder due to Two Novel Compound Heterozygous OTOF Mutations in Two Chinese Families. Qiu, Yue; Chen, Sen; Xie, Le; Xu, Kai; Lin, Yi; Bai, Xue; Zhang, Hui-Min; Liu, Xiao-Zhou; Jin, Yuan; Dec 31, 2019 4145
Brain Disorder Fixed With Epigenome Edit. Dec 15, 2019 543
Roche announces positive Phase III study results for Tecentriq plus Cotellic and Zelboraf in people with previously untreated BRAF V600 mutation-positive advanced melanoma. Dec 13, 2019 1275
Isolated Growth Hormone Deficiency Type 2 due to a novel GH1 Mutation: A Case Report. Kautsar, Ahmad; Wit, Jan M.; Pulungan, Aman Dec 1, 2019 3594
Patients with FMF Associated Spondyloarthropathy Who Has Heterozygous M694V Mutation: A Case Report/Heterozygous M694V Mutasyonu Olan FMF Iliskili Spondiloartropatili Hastalar: Bir Olgu Sunumu. Cerrahoglu, Ayse Beyhan Lale; Alpturker, Kezban Armagan Dec 1, 2019 2118
Gene mutations cause beautiful colors for torties, calicos. Oct 6, 2019 501
Gene mutations cause beautiful colors for torties and calicos. Oct 6, 2019 496
CRISPRed Fruit Flies Mimic Monarch Butterfly. Oct 3, 2019 1753
AstraZeneca, Merck presents results from Phase 3 PROfound trial of LYNPARZA. Sep 30, 2019 545
Clinical and Ultrastructural Studies of Gelatinous Drop-Like Corneal Dystrophy (GDLD) of a Patient with TACSTD2 Gene Mutation. Masmali, Ali; Alkanaan, Aljoharah; Alkatan, Hind M.; Almutairi, Omar KiraAbdullah Ayidh; Almubrad, T Sep 30, 2019 3774
Are Mutants Real? Scientists Say Yes And Why. Darwin Malicdem Sep 26, 2019 392
Taiwan ranked No. 1 in 'Asian flush' sufferers in world: Stanford study. Sep 20, 2019 469
Gene Mutations That Cause Left-Handedness Identified. Sep 9, 2019 426
Do Genetic Mutation Play A Role In The Duration Of Our Sleep? Sep 5, 2019 457
Mutations in DNA affect how we age. Sep 3, 2019 115
THE MOUSE THAT DIED OF YOUNG AGE: SOME SCIENTISTS THINK EDITING THE EPIGENOME, WHICH TURNS OUR GENES ON AND OFF, COULD BE THE ELIXIR OF LIFE. Hayasaki, Erika Sep 1, 2019 2358
A Child Diagnosed With Treatment-Resistant Polyarteritis Nodosa: Can the Clinical Diagnosis be Different? Alaygut, Demet; Alparslan, Caner; Oncel, Elif Perihan; Mutlubas, Fatma; Ozdemir, Tunc; Yavascan, Ond Sep 1, 2019 2579
The Role of Interleukin-1 Beta C-511T as a Modifier Polymorphism in Cryopyrin-associated Periodic Syndromes. Ozyilmaz, Berk; Ozdemir, Taha Resid Sep 1, 2019 2515
Genome-Editing a Broad Range of Mutations. Aug 25, 2019 1003
Investigation Between MTHFR A1298C polymorphism and Oral Squamous Cell Carcinoma Risk in Turkish Population/Turk Toplumunda MTHFR A1298C Polimorfizmi ile Oral Skuamoz Hucre Karsinom Gelisim Riski Arasindaki Iliskinin Arastirilmasi. Kucukhuseyin, Ozlem; Kayhan, Kivanc Bektas; Unur, Meral; Aydogan, Hulya Yilmaz Aug 1, 2019 5116
Frequency of Alpha Thalassaemia in homozygous Beta Thalassaemia paediatric patients and its clinical impact at a blood disease centre in Karachi, Pakistan. Report Jul 31, 2019 3369
A Case with Laron Syndrome. Ozgen, Ilker Tolga; Kutlu, Esra; Cesur, Yasar; Yesil, Gozde Jul 1, 2019 1896
Hypokalemic periodic paralysis due to CACNA1S gene mutation. Alhasan, Khalid A.; Abdallah, Mohammed S.; Kari, Jameela A.; Bashiri, Fahad A. Jul 1, 2019 2847
Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report. Candelo, Estephania; Ramirez-Montano, Diana; Pachajoa, Harry Report Jul 1, 2019 3503
Mitochondrial Transfer of Wharton's Jelly Mesenchymal Stem Cells Eliminates Mutation Burden and Rescues Mitochondrial Bioenergetics in Rotenone-Stressed MELAS Fibroblasts. Lin, Tsu-Kung; Chen, Shang-Der; Chuang, Yao-Chung; Lan, Min-Yu; Chuang, Jiin-Haur; Wang, Pei-Wen; Hs Jun 30, 2019 7287
GENETIC ANALYSIS OF FAMILIES HAVING AUTOSOMAL RECESSIVE INTELLECTUAL DISABILITY. Khan, Jamshed; Junaid, Muhammad; Uddin, Shahab; Moeed, Khalida; Ullah, Usman; Aman, Shehla Report Jun 30, 2019 2695
China gene babies' mutation linked to higher mortality: study. Jun 4, 2019 526
Immunohistochemical Study of Amelogenin Binding Proteins in an Amelogenin Point Mutation Mouse/Estudio Inmunohistoquimico de Proteinas de Union de la Amelogenina en un Raton con Mutacion Puntual de Amelogenina. Otawa-Kamogashira, Naoko; Matsuda, Yuko; Takezaki, Masaaki; Hatakeyama, Yuji; Tamaoki, Sachio; Ishik Jun 1, 2019 3941
Patient with Mal de Meleda in whom a Novel Gene Mutation was Identified. Gurel, Gulhan; Cilingir, Oguz; Kutluay, Ozden; Arslan, Serap; Sahin, Sevinc; Colgecen, Emine Letter to the editor Jun 1, 2019 1651
JAK2 gene V617F mutation analysis in myeloproliferative diseases. Aynekin, Busra; Gokce, Nuriye; Eser, Bulent; Tascioglu, Nazife; Ozkul, Yusuf; Saatci, Cetin; Dundar, Jun 1, 2019 295
Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency. Zhao, Mei; Hou, Lingling; Teng, Huajing; Li, Jinchen; Wang, Jiesi; Zhang, Kunlin; Yang, Lin May 31, 2019 4255
DNA discovery gives hope; Dogs: Study shows link between gene and breathing woes in certain breeds. May 17, 2019 250
This genetic mutation makes people feel full. May 8, 2019 1125
Genetics of hair texture have implications for therapy. May 1, 2019 328
Polygenic Risk Scores That Predict Common Diseases Using Millions of Single Nucleotide Polymorphisms: Is More, Better? Janssens, A. Cecile J.W.; Joyner, Michael J. May 1, 2019 2230
Idiopathic CRMO and MEFV Gene Variant Alleles: Is There Any Relationship? Salehzadeh, Farhad; Anari, Hassan; Sarkhanloo, Sepehr Apr 30, 2019 2676
Wolman Hastaliginda Yeni Bir Mutasyon: Olgu Sunumu/A New Mutation in Diagnosis of Wolman Disease: Case Report. Cansever, Mehmet Serif; Aslan, Mine; Zubarioglu, Tanyel Clinical report Apr 17, 2019 1487
Genetic metabolic disorder linked with DNA mutation, claims study. Apr 16, 2019 652
At 71, she's never felt pain. Now scientists know why. Apr 10, 2019 1191
Precise Detection of Gene Mutations in Fine-Needle Aspiration Specimens of the Papillary Thyroid Microcarcinoma Using Next-Generation Sequencing. Yu, Feng-xia; Hu, Min-xia; Zhao, Han-xue; Niu, Li-juan; Rong, Xue-yu; Li, Wei-hua; Zhu, Qiang; Ying, Mar 31, 2019 5062
Molecular Patterns of MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever: A Retrospective Cohort Study. Mansour, Amal R.; Shayeb, Ayman El-; Habachi, Nihal El; Khodair, Mohamad A.; Elwazzan, Doaa; Abdeen, Mar 31, 2019 3265
Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy. Xiang, Qin; Yuan, Lamei; Cao, Yanna; Xu, Hongbo; Li, Yunfeiyang; Deng, Hao Mar 31, 2019 4207
Interleukin-1 Beta Gene Polymorphism rs16944 May Associate with Increased Susceptibility to Extremity Chronic Osteomyelitis in Chinese Han Population. Yao, Zi-long; Lin, Qing-rong; Hu, Yan-jun; Hou, Yi-long; Ma, Yun-fei; Yu, Bin; Jiang, Nan Mar 31, 2019 5687
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman lives almost pain-free thanks to genetic mutation; She also may have enhanced wound healing, says new research. Mar 28, 2019 520
Woman Feels Almost No Pain After Rare Genetic Mutation. Mar 28, 2019 523
Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort. Touzon, Maria Sol; Garrido, Natalia Perez; Marino, Roxana; Ramirez, Pablo; Costanzo, Mariana; Guerci Report Mar 1, 2019 5807
Bulldogs Shed Light on Human Syndrome: A similar DNA mutation is found in Robinow syndrome. Mar 1, 2019 237
A Diagnostic Challenge: Erdheim Chester Disorder/Zor Bir Tani: Erdheim Chester Hastaligi. Razi, Mairah; Qubtia, Maria; Hassan, Aamna; Hassan, Mudassar; Hameed, Abdul Feb 1, 2019 635
Effect of the Point Mutation in Growth Differentiation Factor 9 Gene in Awassi Sheep Oocytes on Sterility and Fertility. Al-Mutar, H.; Younis, L.; Khawla, H. Report Dec 1, 2018 3958
Cloning of Presenilin 2 cDNA and Construction of Vectors Carrying Effective Mutations in the Pathogenesis of Familial Alzheimer's Disease. Oztan, Gozde; Yokes, Baki; issever, Halim Dec 1, 2018 6424
Two neonates with Bartter syndrome. Nov 30, 2018 1559
Clinical, Neuroimaging, and Pathological Analyses of 13 Chinese Leigh Syndrome Patients with Mitochondrial DNA Mutations. Yu, Xiao-Lin; Yan, Chuan-Zhu; Ji, Kun-Qian; Lin, Peng-Fei; Xu, Xue-Bi; Dai, Ting-Jun; Li, Wei; Zhao, Report Nov 20, 2018 4748
Paula Amato. Nov 1, 2018 386
Molecular and presymptomatic analysis of a Moroccan Lynch syndrome family revealed a novel frameshift MLH1 germline mutation. Moufid, Fatima Zahra; Bouguenouch, Laila; Bouchikhi, Ihssane El; Houssaini, Mohamed Iraqui; Ouldim, Nov 1, 2018 2126
Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family. Naseer, Muhammad I.; Rasool, Mahmood; Abdulkareem, Angham A.; Bassiouni, Randa I.; Algahtani, Hussei Oct 1, 2018 2712
FDA Approves New Treatment for Fabry Disease, a Rare Genetic Disorder. Aug 15, 2018 458
Prevention is key in the fight against genetic diseases. Jul 2, 2018 672
Myriad Genetics to present second pivotal validation study for riskScore at ASCO. Clinical report Jun 1, 2018 165
Haploinsufficiency of the DMRT Gene Cluster in a Case with 46,XY Ovotesticular Disorder of Sexual Development. Eser, Metin; Ayaz, Akif Case study Jun 1, 2018 1773
Worse Survival for BRCA Germline Mutation Carriers in Pancreatic CA; For BRCA germline mutation carriers, better survival seen with platinum-based chemotherapy. May 30, 2018 262
The kids are too clean! Germ-free environment in first year of childhood linked to LEUKAEMIA, claims study; Overly sterile environments for young children can be a major factor behind childhood leukaemia according to doctors. May 21, 2018 900
Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles. Alibakhshi, Reza; Moradi, Keivan; Biglari, Mostafa; Shafieenia, Samaneh Report May 1, 2018 3390
Heterozygous HTRA1 missense mutation in CADASIL-like family disease. Wu, Xiaowei; Li, Changxin; Mao, Jinming; Li, Ling; Liu, Yan; Hou, Yao Report May 1, 2018 2838
Rare Genetic Mutation Helped Early Americans Survive Ice Age. Apr 24, 2018 546
Meningiomas--insights into genetics and correlations with histological features. Grigoras, Adriana; Riscanu, Laura; Amalinei, Cornelia Report Mar 1, 2018 5523
PROTHROMBIN G20210A GENE MUTATION IN PREGNANT FEMALES WITH THROMBOTIC OBSTETRIC COMPLICATIONS. Feb 28, 2018 2792
Researchers discover how gene mutation triggers immune disease. Feb 1, 2018 374
Puma Biotechnology announces publication of SUMMIT 'Basket' trial results. Jan 31, 2018 324
Genetic Mutation for Severe Obesity Risk. Jan 9, 2018 551
Quasispecies Changes with Distinctive Point Mutations in the Hepatitis C Virus Internal Ribosome Entry Site (IRES) Derived from PBMCs and Plasma. Mercuri, Luca; Thomson, Emma C.; Hughes, Joseph; Karayiannis, Peter Report Jan 1, 2018 6179
Genomic Variability among Field Isolates and Laboratory-Adapted Strains of Leptospira borgpetersenii Serovar Hardjo. Llanes, Alejandro; Restrepo, Carlos Mario; Riesgo-Ferreiro, Pablo; Rajeev, Sreekumari Jan 1, 2018 8653
Corrigendum to "Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles". Kamakari, Smaragda; Kokkinou, Vassiliki; Koutsodontis, George; Stamatiou, Polixeni; Giatzakis, Chris Correction notice Jan 1, 2018 247
Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles. Smaragda, Kamakari; Vassiliki, Kokkinou; George, Koutsodontis; Polixeni, Stamatiou; Christoforos, Gi Jan 1, 2018 7609
Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene. Simoncini, C.; Montano, V.; Ali, G.; Costa, R.; Siciliano, G.; Mancuso, M. Jan 1, 2018 1722
Spontaneous Ovarian Hyperstimulation Syndrome with FSH Receptor Gene Mutation: Two Rare Case Reports. Yilmaz, Emsal Pinar Topdagi; Yapca, Omer Erkan; Topdagi, Yunus Emre; Topdagi, Seray Kaya; Kumtepe, Y Jan 1, 2018 2883
The Sources of Reactive Oxygen Species and Its Possible Role in the Pathogenesis of Parkinson's Disease. Weng, Minrui; Xie, Xiaoji; Liu, Chao; Lim, Kah-Leong; Zhang, Cheng-wu; Li, Lin Jan 1, 2018 6656
Giant Prolactinoma of Young Onset: A Clue to Diagnosis of MEN-1 Syndrome. Subasinghe, Chandrika Jayakanthi; Somasundaram, Noel; Sivatharshya, Pathmanathan; Ranasinghe, Lalana Jan 1, 2018 2709
Bilateral Pheochromocytomas in a Patient with Y175C Von Hippel-Lindau Mutation. Astapova, Olga; Biswas, Anindita; DiMauro, Alessandra; Moalem, Jacob; Hammes, Stephen R. Jan 1, 2018 2655
V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I. Ho, Kwo Wei David; Jerath, Nivedita U. Jan 1, 2018 1296
Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability. Hashmi, Nadia Al-; Mohammed, Mohammed; Kathir, Salim Al-; Yarubi, Naeema Al-; Scott, Patrick Jan 1, 2018 1410
Modelling Cooperative Tumorigenesis in Drosophila. Richardson, Helena E.; Portela, Marta Jan 1, 2018 22965
Heteroplasmy Detection of Mitochondrial DNA A3243G Mutation Using Quantitative Real-Time PCR Assay Based on TaqMan-MGB Probes. Rong, Enguang; Wang, Hanbo; Hao, Shujing; Fu, Yuhong; Ma, Yanyan; Wang, Tianze Jan 1, 2018 5099
Zone of Polarizing Activity Regulatory Sequence Mutations/Duplications with Preaxial Polydactyly and Longitudinal Preaxial Ray Deficiency in the Phenotype: A Review of Human Cases, Animal Models, and Insights Regarding the Pathogenesis. Qattan, Mohammad M. Al- Jan 1, 2018 6061
Mutational Profile of Metastatic Breast Cancer Tissue in Patients Treated with Exemestane Plus Everolimus. Omarini, Claudia; Filieri, Maria Elisabetta; Bettelli, Stefania; Manfredini, Samantha; Kaleci, Shani Clinical report Jan 1, 2018 4890
A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level. Zhang, Yanni; Chen, Huishuang; Peng, Zhiyu; Banerjee, Santasree; Li, Wei; Zhao, Zhaolong; Sun, Jianb Jan 1, 2018 4422
Mannose-Binding Lectin Gene Polymorphism and Its Association with Susceptibility to Recurrent Vulvovaginal Candidiasis. Hammad, Noha M.; Badawy, Nissreen E. El; Nasr, Ashraf M.; Ghramh, Hamed A.; Kady, Laila M. Al Jan 1, 2018 5852
Mutational Profiling of Non-Small-Cell Lung Cancer Resistant to Osimertinib Using Next-Generation Sequencing in Chinese Patients. Nie, Keke; Jiang, Haiping; Zhang, Chunling; Geng, Chuanxin; Xu, Xiajuan; Zhang, Ling; Zhang, Hao; Zh Clinical report Jan 1, 2018 3527
Pathway Network Analysis of Complex Diseases Based on Multiple Biological Networks. Zheng, Fang; Wei, Le; Zhao, Liang; Ni, FuChuan Jan 1, 2018 6713
Atheism Causes Genetic Mutation? Dec 24, 2017 550
FDA Approves Zelboraf for Erdheim-Chester Disease with BRAF V600 Mutation. Nov 8, 2017 526
In a first, gene therapy halts a fatal brain disease. Oct 22, 2017 1101
Massive genetic study shows how humans are evolving. Sep 18, 2017 793
Vampires may have been real people with a blood disorder. Sep 7, 2017 531
Genentech Receives Priority Review and Breakthrough Therapy Designation for Zelboraf (vemurafenib) in Erdheim-Chester Disease with BRAF V600 Mutation. Aug 8, 2017 265
Kashmiri doctor helps gene editing of human embryos. Aug 6, 2017 897
Human Embryos: Single-Gene Mutations Repaired. Aug 3, 2017 816
Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease. Lu, Yuan-Yuan; Lyu, He; Jin, Su-Qin; Zuo, Yue-Huan; Liu, Jing; Wang, Zhao-Xia; Zhang, Wei; Yuan, Yun Report Jul 27, 2017 3954
'Less toxic' tobacco comes closer to reality. Jul 4, 2017 793
Stem cell treatment for gene mutation is "disappointing," but promising. Jun 19, 2017 714
10 Genetic Mutations That Can Give You 'Superhuman' Powers. Jun 5, 2017 686
Major Depression and Fabry Disease: A Case Report. Sayiner, Zeynel Abidin; Eraydin, Ayten; Tabur, Suzan; Ozkaya, Mesut; Akarsu, Ersin; Araz, Mustafa Case study Jun 1, 2017 288
POU1F1 and PROP1 Gene Mutations in 4 Cases of Combined Pituitary Hormone Deficiency. Akgun, Bilcag; Karademir, Zehra; Isik, Esra; Darcan, Sukran; Aykut, Ayca; Durmaz, Asude; Ozen, Samim Report Jun 1, 2017 344
FGFR2 Gene Mutations in Patients with Syndromic or Isolated Craniosynostosis. Ceylan, Emine Ipek; Solmaz, Asli Ece; Onay, Huseyin; Aykut, Ayca; Durmaz, Asude; Yesil, Gozde; Hazan Report Jun 1, 2017 360
The Mutation Spectrum of DHCR7 Gene and Two Novel Mutations. Isik, Esra; Onay, Huseyin; Akgun, Bilcag; Atik, Tahir; Aykut, Ayca; Durmaz, Asude; Dundar, Munis; Ku Brief article Jun 1, 2017 247
PTPN11, SOS1, and BRAF Gene Mutation Spectrum in RASopathies in Molecular Diagnosis. Asikovali, Semih; Aykut, Ayca; Durmaz, Asude; Onay, Huseyin; Hazan, Filiz; Ozen, Samim; Atik, Tahir; Author abstract Jun 1, 2017 383
Six 11-Beta Hydroxylase Deficiency Patients: Identification of Two Novel Mutations. Onay, Huseyin; Isik, Esra; Ozen, Samim; Kavasoglu, Ayse Nur; Simsir, Ilgin Yildirim; Atik, Tahir; Yu Author abstract Jun 1, 2017 249
Fiddling With Human DNA Causes Tons Of Gene Mutations. May 30, 2017 590
Today's stem cell modeling techniques can't probe genetic variations. Mar 27, 2017 556
Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene. Sahin, Sezgin; Hiort, Olaf; Thiele, Susanne; Evliyaoglu, Olcay; Tuysuz, Beyhan Case study Mar 1, 2017 3396
Gender-based cancer treatments may develop. Marcom, Paul Kelly Feb 1, 2017 155
Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment. Kaheel, Hazem; Bress, Andreas; Hassan, Mohamed A.; Shah, Aftab Ali; Amin, Mutaz; Bakhit, Yousuf H.Y. Report Jan 1, 2017 1884
Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation. Uribe-Bojanini, Esteban; Hernandez-Quiceno, Sara; Cock-Rada, Alicia Maria Case study Jan 1, 2017 4267
Methylmalonic Acidemia with Novel MUT Gene Mutations. Panigrahi, Inusha; Bhunwal, Savita; Varma, Harish; Singh, Simranjeet Clinical report Jan 1, 2017 1050
Resveratrol Modulation of Protein Expression in parkin-Mutant Human Skin Fibroblasts: A Proteomic Approach. Vergara, Daniele; Gaballo, Antonio; Signorile, Anna; Ferretta, Anna; Tanzarella, Paola; Pacelli, Con Report Jan 1, 2017 11209
Syntool: A Novel Region-Based Intolerance Score to Single Nucleotide Substitution for Synonymous Mutations Predictions Based on 123,136 Individuals. Zhang, Tongda; Wu, Yiran; Lan, Zhangzhang; Shi, Quan; Yang, Ying; Guo, Jian Report Jan 1, 2017 2692
CYP2C19*2 Polymorphism in Chilean Patients with In-Stent Restenosis Development and Controls. Ruedlinger, Jenny; Prado, Yalena; Zambrano, Tomas; Saavedra, Nicolas; Bobadilla, Braulio; Potthoff, Report Jan 1, 2017 4586
Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome. Liu, Lv; Yang, Kai; Wang, Xiang; Shi, Zhihui; Yang, Yifeng; Yuan, Yu; Guo, Ting; Xiao, Xiaocui; Luo, Report Jan 1, 2017 2903
Clinical and Genetic Review of Hereditary Acral Reticulate Pigmentary Disorders. Alshaikh, H.; Alsaif, F.; Aldukhi, S. Report Jan 1, 2017 7536
Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome. Li, Kuanshu; Yang, Liu; Liu, Ying; Lin, Ding Report Jan 1, 2017 2631
Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China. Gan, Dekang; Li, Mengwei; Wu, Jihong; Sun, Xinghuai; Tian, Guohong Report Jan 1, 2017 2147
Novel Implications in Molecular Diagnosis of Lynch Syndrome. Liccardo, Raffaella; Rosa, Marina De; Izzo, Paola; Duraturo, Francesca Report Jan 1, 2017 9099
Aging increases DNA mutations in important type of stem cell. Dec 19, 2016 467
Gene Mutation Linked To Parkinson's. Dec 1, 2016 385
Necessity Is the Mother of Invention: The Development of Digital Genomics. Kinzler, Kenneth; Vogelstein, Bert Dec 1, 2016 1540
Effects of tributyltin chloride on cybrids with or without an ATP synthase pathologic mutation. Lopez-Gallardo, Ester; Llobe, Laura; Emperador, Sonia; Montoya, Julio; Ruiz-Pesini, Eduardo Report Sep 1, 2016 6537
Considering hysterectomy in women with BRCA1 mutations. Leath, Charles A.; Huh, Warner K.; Alvarez, Ronald D. Aug 1, 2016 262
The Genetics of Growth and Growth Disorders: From the Hypothalamus to the Epiphysis. Geffner, Mitchell E. Report Jun 1, 2016 1262
A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome. Khan, Nusrat; Dandan, Waleed; Al Hassani, Noura; Hadi, Suha Case study Jun 1, 2016 2672
Could hidden genetic mutations undercut stem cell therapies? May 2, 2016 606
Could hidden genetic mutations undercut stem cell therapies? May 2, 2016 606
Could hidden genetic mutations undercut stem cell therapies? Apr 25, 2016 606
AN EPIDEMIOLOGICAL STUDY OF THIOPURINE-METHYLTRANSFERASE VARIANTS IN A CROATIAN INFLAMMATORY BOWEL DISEASE PATIENT COHORT. Ladic, Agata; Bozina, Nada; Borzan, Vladimir; Brinar, Marko; Vucelic, Boris; Cukovic-Cavka, Silvija Report Mar 1, 2016 4296
An Improved Global Harmony Search Algorithm for the Identification of Nonlinear Discrete-Time Systems Based on Volterra Filter Modeling. Li, Zongyan; Li, Deliang Jan 1, 2016 8196
Low-Dose Methylmercury-Induced Apoptosis and Mitochondrial DNA Mutation in Human Embryonic Neural Progenitor Cells. Wang, Xinjin; Yan, Mengling; Zhao, Lina; Wu, Qing; Wu, Chunhua; Chang, Xiuli; Zhou, Zhijun Jan 1, 2016 5563
Effect of point mutations on Herbaspirillum seropedicae NifA activity. Aquino, B.; Stefanello, A.A.; Oliveira, M.A.S.; Pedrosa, F.O.; Souza, E.M.; Monteiro, R.A.; Chubatsu Report Aug 1, 2015 5541
A genetic mutation responsible for glycogen storage. Feb 1, 2015 196
Correcting genetic mutations for future generations. Jan 19, 2015 455
Ride to help Sadie on Sat.; Rare genetic mutation blindsides family. Stanway, Eric Sep 5, 2014 705
Human-ape split gets an earlier date: new study revises DNA mutation rate of chimpanzees. Saey, Tina Hesman Jul 12, 2014 769
Parkinson's Progression Markers Initiative to study Parkinson's genetic mutations. Feb 26, 2014 190
Enzymatics unveils Archer targeted sequencing platform for gene mutations detection. Feb 14, 2014 273
Study finds double mastectomy lowers death risk in women with BRCA gene mutation vs single mastectomy - report. Feb 12, 2014 312
Early death is common among white tigers since they owe their appearance to a genetic mutation. Feb 6, 2014 128
Early death is common among white tigers since they owe their appearance to a genetic mutation. Feb 6, 2014 128
Early death is common among white tigers since they owe their appearance to a genetic mutation. Feb 6, 2014 128
Horse's gait controlled by genetic mutation spread by humans. Feb 5, 2014 298
The importance of brain metastasis in EGFR mutation positive NSCLC patients. Noronha, Vanita; Joshi, Amit; Gokarn, Anant; Sharma, Vibhor; Patil, Vijay; Janu, Amit; Purandare, Ni Clinical report Jan 1, 2014 2723
Sieving Through 'Junk' DNA Reveals Disease-Causing Genetic Mutations. Oct 4, 2013 496
Genetic Mutation Increases Risk of Childhood Leukaemia. Sep 9, 2013 322
Genetic mutation breakthrough may help make Parkinson's disease history. Aug 12, 2013 399
Genetic mutations affect stability of bacterial biofilms. Irsfeld, Meredith; Daniels, Justin W.; Horne, Shelley M.; Stafslien, Shane J.; Pruss, Birgit M. Apr 1, 2013 372
Mutational analysis of ten Turkish patients with glycogen storage disease type III: identification of four novel mutations. Manguoglu, Esra; Uygun, Vedat; Ozkaya, Figen; Luleci, Guven; Artan, Reha; Berker, Sibel Report Dec 1, 2012 3233
Gene mutation that cause brain defects identified. Nov 10, 2012 243
Genetic mutation may have allowed 'great expansion of early humans'. Sep 20, 2012 604
Familial hemophagocytic lymphohistiocytosis with A665G perforin gene mutation: a case report / A665G Perforin Gen Mutasyonu Olan Ailesel Hemofagositik Lenfohistiyositozis: Bir Olgu Sunumu. Yenicesu, Idil; De Saint Basile, Genevieve; Emeksiz, Hamdi Cihan; Dalgic, Buket Report Sep 1, 2012 3191
Help for the Burmese breed. Aug 1, 2012 283
New gene transfer strategy shows promise to treat muscular dystrophies. Jul 9, 2012 485
Gene mutations behind massive brain asymmetry in kids. Jun 25, 2012 677
Researchers Find American Indians with Jewish Genetic Markers. May 31, 2012 234
Israeli researchers find American Indians with Jewish genetic markers: report. May 30, 2012 202
Mesenteric paraganglioma with gallbladder paraganglion nest. Baker, C.R.; Bhagwat, P.; Wan, A. Case study Mar 1, 2012 1236

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