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Title Author Type Date Words
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
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
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
20 Most rare diseases. Feb 27, 2020 1724
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
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 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
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
Genome-Editing a Broad Range of Mutations. Aug 25, 2019 1003
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Rare genetic mutation identified by Omani researcher. Aug 5, 2017 148
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
Clinical and Genetic Review of Hereditary Acral Reticulate Pigmentary Disorders. Alshaikh, H.; Alsaif, F.; Aldukhi, S. Report Jan 1, 2017 7536
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
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 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
'Broken' heart caused by genetic mutation. Feb 16, 2012 469
Cancer treatment questioned. Greaney, Althea Letter to the editor Nov 5, 2011 223
Enchondroma of the skull base secondary to generalized enchondromatosis: a case report and review of the literature. Rogers, Derek J.; Boseley, Mark E.; Stephan, Mark J.; Browd, Samuel; Semerad, David C. Case study Nov 1, 2011 1504
Genetic mutation behind 'life-threatening' hypoglycaemia. Oct 8, 2011 261
Association of polymorphisms in fecundity genes of GDF9, BMP15 and BMP15-1B with litter size in Iranian Baluchi sheep. Moradband, F.; Rahimi, G.; Gholizadeh, M. Report Sep 1, 2011 4092
Relationship between testicular sperm extraction results and AZF gene mutations. / Testikuler sperm ekstraksiyonu sonuclarinin AZF gen mutasyonlari ile iliskisi. Altintas, Rasit; Alpman Durmaz, Asude; Karamazak, Serkan; Tavmergen, Erol; Onay, Huseyin; Baris Alta Sep 1, 2011 3692
Sex disorder linked to absence of 'back door' hormone-production pathway. Aug 28, 2011 315
Detection of nucleophosmin 1 mutations by quantitative real-time polymerase chain reaction versus capillary electrophoresis: a comparative study. Barakat, Fareed H.; Luthra, Rajyalakshmi; Yin, C. Cameron; Barkoh, Bedia A.; Hai, Seema; Jamil, Waqa Aug 1, 2011 4538
How the house mouse has evolved to become resistant to common poison. Jul 23, 2011 175
Genetic mutations behind Meckel, Joubert syndrome identified. Jul 9, 2011 259
Environs Prompt Advantageous Gene Mutations as Plants Grow. Jul 6, 2011 743
Genetic mutation behind 'Werewolf-face' excessive hair growth discovered. Jun 4, 2011 364
Gene mutations linked to progressive hearing impairment. Jun 1, 2011 305
Research to help Shar-peis. May 1, 2011 260
Newly Released Book by Local Author Dr. Catherine Shanahan Shows Genetic Mutations Common in Children Born After 2000. Apr 28, 2011 243
Liz Taylor owed her sexy eyelashes to 'genetic mutation'. Mar 30, 2011 418
Genetic mutation helps plants use less water without biomass loss. Jan 12, 2011 282
100-million-year-old gene mutation provides snapshot of evolution. Oct 19, 2010 274
A FAULTY gene could help [...]. Oct 4, 2010 162
What causes metabolic disease? Jul 16, 2010 389
Novel sperm stem-cell technique helps produce genetically modified rats. May 29, 2010 357
New Gene Mutation Linked to Antibody Deficiency. Mar 23, 2010 220
Gene Mutations Reveal Potential New Targets for Treating a Type of Non-Hodgkin's Lymphoma. Jan 11, 2010 150
Mutant Gene Lessens Devastation of Flesh-Eating Bacteria. Jan 5, 2010 432
Genetic insights lead to more treatment options for kidney cancer. George, Daniel J. Jan 1, 2010 114
Gene mutation protects people from flesh-eating disease. Dec 30, 2009 284
Single gene mutations linked to lung disease risk. Dec 22, 2009 247
Two sisters have their stomachs removed to beat family cancer; MUTANT GENE PUT THEM AT 80% RISK. Dec 10, 2009 308
Two sisters have their stomachs removed to beat family cancer; MUTANT GENE PUT THEM AT 80% RISK. Dec 10, 2009 306
BRCA1 gene mutation is linked to low oocyte reserves, study shows. Wendling, Patrice Dec 1, 2009 514
Gene mutation 'key to glioma brain cancer growth'. Nov 23, 2009 348
Researchers Identify Gene Mutations Underlying Risk for Most Common Form of Parkinson's Disease. Nov 16, 2009 148
Gene mutation that makes the body 'forget' it's been vaccinated identified. Nov 9, 2009 425
A novel approach using DNA-repair-deficient chicken DT40 cell lines for screening and characterizing the genotoxicity of environmental contaminants. Ji, Kyunghee; Kogame, Toshiaki; Choi, Kyungho; Wang, Xin; Lee, Jinyoung; Taniguchi, Yoshihito; Taked Report Nov 1, 2009 7616
Gene Mutation Linked to Type of Childhood Cancer. Oct 8, 2009 166
Gene mutation linked to inflammatory bowel disease identified. Oct 5, 2009 275
Gene mutation linked to restless legs syndrome. Oct 5, 2009 384
Breast cancer survivors: a father's diagnosis helps spare his daughter's life and together they learn how knowing their family's medical history would save others. Lott, Annya M. Oct 1, 2009 1900
15th Congress of the European Cancer Organization and the 34th European Society for Medical Oncology multidisciplinary congress: GI update. Brown, Vanessa Clinical report Oct 1, 2009 1840
The genetic mutation that ruins orange-coloured fish sex lives. Sep 29, 2009 271
Gene mutation behind pupils' low grades identified. Sep 24, 2009 456
Genetic mutation makes some people to rid hepatitis C. Sep 17, 2009 432
Oxidative stress a primary cause of genetic mutations. Sep 8, 2009 617
Genetic mutation linked to 'wrinkly skin' syndrome identified. Sep 1, 2009 234
Genes may impact your time in dreamland. Bateman, Chris Brief article Sep 1, 2009 213
Resistance to HER2-directed trastuzumab therapy in breast cancer. Jasani, Bharat; Gee, Julia; Hutcheson, Iain; Clarkson, Richard W.; Bartlett, John; Barrett-Lee, Pete Report Sep 1, 2009 5989
Clues to gigantism provided by family in Borneo Mountains. Aug 22, 2009 424
Childhood cancer gene mutations breakthrough; HEALTH. Aug 17, 2009 167
Gene that affects sleep found. Aug 14, 2009 315
Scientists find link between gene mutations and ciliopathies. Aug 10, 2009 451
DNA mutation in birds can lead to evolution of new species. Aug 6, 2009 250
Stem cell 'daughters' can cause breast cancer. Aug 3, 2009 478
Adrenal carcinoma: a case study. Hemmady, Sujata Case study Aug 1, 2009 1761
Gene mutation ups women's risk of breast cancer via pill and HRT use. Jul 27, 2009 670
Genetic mutation linked to hereditary neuroendocrine tumour identified. Jul 24, 2009 367
First potential genetic mutation behind restless legs syndrome identified. Jul 22, 2009 401
Gene mutation behind pregnancy loss and disorders identified. Jul 22, 2009 444
Single gene mutation behind catastrophic epilepsy. Jul 8, 2009 333
New gene mutation implicated in breast cancer. Jul 1, 2009 218
Study links more gene mutations to autism risk. Jun 26, 2009 469
How a gene mutation causes devastation of Huntington's disease. Jun 15, 2009 574
Study sheds light on mutations in genetic pathways that extend lifespan in animals. Jun 8, 2009 422
New gene mutation discovered. Jun 1, 2009 845
Breast cancer action sues to end gene patenting. Jun 1, 2009 383
The Impact of Third Hand Smoke on Risk for Genetic Mutations Wins First Place Addiction Science Award at 2009 Intel ISEF Competition. May 18, 2009 185
Gene mutation linked to stroke, deadly diseases of the aorta, coronary arteries identified. May 2, 2009 301
Fish oil could help prevent Parkinson's disease. Apr 20, 2009 302
Mutation of gene clue to skin cancer; HEALTH. Apr 7, 2009 110
Genetic mutation 'triggers most melanoma'. Apr 7, 2009 219
Leukaemia find. Apr 6, 2009 126
Genetic mutations may stunt kids' lung development. Mar 27, 2009 282
Genetic mutations linked to high levels of 'good' cholesterol. Mar 17, 2009 165
Genetic mutations linked to childhood brain cancer identified. Mar 9, 2009 235
Screening for gene mutation helps predict pediatric kidney transplant patients at risk for organ rejecting. Mar 1, 2009 444
Scientists link two gene mutations to most common brain cancers. Feb 19, 2009 353
Breast cancer gene mutations up prostate cancer risk. Jan 30, 2009 285
Genetic mutations can predict childhood leukaemia relapse. Jan 9, 2009 658
Genetic mutations can predict childhood leukaemia relapse. Jan 8, 2009 658
Scientists Identify New Congenital Neutropenia Syndrome and Causative Gene Mutation. Jan 2, 2009 108
Detection of genes mutations in the K-ras, H-ras and EGFR in samples of blood plasma and cervical smears for patients with cervical intraepithelial neoplasia III and cervical cancer/Deteccion de mutaciones en los genes K-ras, H-ras y EGFR en muestras de plasma sanguineo y cepillado cervical de pacientes con neoplasia intraepitelial cervical (NIC) III y cancer de cuello uterino. Garcia, Dabeiba Adriana; Arias, Yazmin Rocio; Aristizabal, Fabio Ancizar Report Jan 1, 2009 3454
Detection of genes mutations in the K-RAS, H-RAS and EGFR in samples of blood plasma and cervical smears for patients with cervical intraepithelial neoplasia III and cervical cancer/Deteccion de mutaciones en los genes K-ras, H-ras y EGFR en muestras de plasma sanguineo y cepillado cervical de pacientes con neoplasia intraepitelial cervical (NIC) III y cancer de cuello uterino. Garcia, Dabeiba Adriana; Arias, Yazmin Rocio; Aristizabal, Fabio Ancizar Report Jan 1, 2009 4058
Human gene mutations expressed in yeast may predict severity of fatal childhood illness. Dec 22, 2008 246
Gene linked to inherited form of fatal lung disease identified. Dec 20, 2008 266
Gene mutation in placenta linked to cancer development. Dec 17, 2008 340
Gene mutation that appears to prevent heart disease identified. Dec 12, 2008 440
Gene mutation that causes common eye cancer discovered. Dec 11, 2008 340
Genetic mutations implicated in irritable bowel syndrome. Dec 11, 2008 321
Genetic mutation responsible for Labrador retriever ailment. Nov 1, 2008 283
Pittsburgh Researchers ID Genetic Mutation That Predicts Organ Rejection. Oct 1, 2008 171
Effects of blueberries on mortality rates and Indy gene expression in Drosophila melanogaster. Derr, Jenna N.; Smith, Tamara L.; Carlson, Kimberly A. Aug 1, 2008 2715
Detection of APC gene deletions using quantitative multiplex PCR of short fluorescent fragments. Castellsague, Ester; Gonzalez, Sara; Nadal, Marga; Campos, Olga; Guino, Elisabet; Urioste, Miguel; B Jul 1, 2008 5130
Utility of oligonucleotide array--based comparative genomic hybridization for detection of target gene deletions. Wong, Lee-Jun C.; Dimmock, David; Geraghty, Michael T.; Quan, Richard; Lichter-Konecki, Uta; Wang, J Jul 1, 2008 3308
Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of Ddstrophin gene mutations. Trimarco, Amelia; Torella, Annalaura; Piluso, Giulio; Ventriglia, Vega Maria; Politano, Luisa; Nigro Jun 1, 2008 5312
Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: comparison of two high-resolution melting platforms. De Leeneer, Kim; Coene, Ilse; Poppe, Bruce; De Paepe, Anne; Claes, Kathleen Jun 1, 2008 4400
Myriad Genetics obtains United States patent. Jun 1, 2008 119
Fly gene age clue. May 10, 2008 88
Myriad Genetics obtains United States patent. May 1, 2008 119
Hormone therapy and VTE. Etingin, Orli R. May 1, 2008 157
Investigating evidence for UV-B induced mutagenesis in Dimorphotheca sinuata using the 18S rDNA and rbcL gene sequences. Mpoloka, S.W. May 1, 2008 5009
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. Waldmuller, Stephan; Muller, Melanie; Rackebrandt, Kirsten; Binner, Priska; Poths, Sven; Bonin, Mich Apr 1, 2008 3223
Two novel mutations on chromosome 16 linked to autism. Moon, Mary Ann Feb 1, 2008 728
Two mutations on chromosome 16 may cause 1% of autism. Moon, Mary Ann Feb 1, 2008 757
Lifetime cancer risk is high in unaffected BRCA carriers. Jancin, Bruce Jan 15, 2008 473
How genetics and environment contribute to athletic prowess and compensation for disease deficiencies. Sauter, Edward R. Jan 1, 2008 3292
Mass spectrometry-based detection of hemoglobin E mutation by allele-specific base extension reaction. Tsang, Jason C.H.; Charoenkwan, Pimlak; Chow, Katherine C.K.; Jin, Yongjie; Wanapirak, Chanane; Sang Dec 1, 2007 2487
Gene polymorphism linked to depression in CHD. Jancin, Bruce Dec 1, 2007 566
Myriad Genetics obtains United States patent. Dec 1, 2007 99
The incredible bulk. Morrill, Anne Nov 12, 2007 290
Maturity-onset diabetes mimics type 2 disease in children. Tucker, Miriam E. Aug 1, 2007 581
United States Department of Energy obtains United States patent. Jun 1, 2007 157
Quantitative mitochondrial DNA mutation analysis by denaturing HPLC. Lim, Kok Seong; Naviaux, Robert K.; Haas, Richard H. Jun 1, 2007 4736
Your LIFE: Dr Miriam gets to the heart of.. ...GENES AND CANCER. May 31, 2007 270
Your LIFE: Dr Miriam gets to the heart of.. ...GENES AND CANCER; REAL LIFE. May 31, 2007 270
Genetics and skin disease. Wood, E.J. May 1, 2007 772
Screening guidelines will be tough to follow. Frame, Paul Apr 15, 2007 606
Scientists' cancer gene surprise. Mar 8, 2007 125
Mitochondrial DNA mutation detection by electrospray mass spectrometry. Jiang, Yun; Hall, Thomas A.; Hofstadler, Steven A.; Naviaux, Robert K. Feb 1, 2007 5426
Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. Kennerson, Marina L.; Warburton, Trent; Nelis, Eva; Brewer, Megan; Polly, Patsie; De Jonghe, Peter; Clinical report Feb 1, 2007 2248
Endolymphatic sac tumor: a report of 3 cases and discussion of management. Maceri, Dennis Disease/Disorder overview Jan 1, 2007 4056
A new tool to trace genetic susceptibility. Spivey, Angela Jan 1, 2007 646
New insight into intrachromosomal deletions induced by chrysotile in the gpt delta transgenic mutation assay. Hei, Tom K. Jan 1, 2007 7080
Research Linking Ashkenazi Jews & Breast Cancer Genes Beset by Problems. Nov 3, 2006 686
Lower prevalence of breast cancer gene mutations. Dooley, Erin E. Nov 1, 2006 141
Supermice immune to cancer. Nov 1, 2006 163
Medics crack breast cancer code; BREAKTHROUGH ..3. Oct 30, 2006 101
Coffee 'harms sperm'. Oct 30, 2006 187
Hopes of curing cleft lip in womb. Oct 17, 2006 224
Scientists establish mutant gene link to autism. Oct 17, 2006 409
Fibrous dysplasia of the frontal bone. Issing, Wolfgang J. Oct 1, 2006 1390
Sperm DNA changes as men age. Phelps, Jerry Sep 1, 2006 423
Salpingo-oophorectomy cuts cancer risk in BRCA2 carriers. Tanzola, Melinda Jul 15, 2006 427
Environmental Polymorphism Registry: banking DNA to discover the source of susceptibility. Spivey, Angela Jul 1, 2006 1161
Misfolded protein presents potential molecular explanation for autism spectrum disorders. Phelps, Jerry Jul 1, 2006 324
Flu virus pandemic dismissed. Jun 24, 2006 203
Boost for lung battle. Jun 22, 2006 87
Large-scale survey of cancer gene mutations. Jun 22, 2006 377
Not all women benefit from removing ovaries. Jun 22, 2006 436
Adding MRI sensible in BRCA carriers age 35-54. Moon, Mary Ann Jun 15, 2006 424
Dana Farber and 454 Life Sciences announce breakthrough in DNA sequencing for cancer research. Jun 1, 2006 693
Ovarian Cancer; Diagnosis. May 30, 2006 1498
Myriad Genetics obtains United States patent. May 1, 2006 121
Multiplex tetra-primer amplification refractory mutation system PCR to detect 6 common germline mutations of the MUTYH gene associated with polyposis and colorectal cancer. Piccioli, Patrizia; Serra, Martina; Gismondi, Viviana; Pedemonte, Simona; Loiacono, Fabrizio; Lastra Apr 1, 2006 3072
Government: in February, the National Cancer Institute (NCI) launched the three-year, $14 million Cancer Genetic Markers of Susceptibility (CGEMS) initiative, which seeks to identify low-risk genetic mutations that in combination are linked with an increased risk for breast and prostate cancers. Mar 31, 2006 94
Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome. Garcia-Barcelo, Merce; So, Man-ting; Lau, Danny Ko-chun; Leon, Thomas Yuk-yu; Yuan, Zheng-wei; Cai, Report Jan 1, 2006 4560
A new way to inherit environmental harm. Montague, Tim Reprint Jan 1, 2006 1588

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