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1-269 out of 269 article(s)
Title Author Type Date Words
Prevalence of autosomal dominant polycystic kidney disease in Persian and Persian-related cats in Brazil/Prevalencia da doenca renal policistica autossomica dominante em gatos Persas e racas relacionadas no Brasil. Guerra, J.M.; Cardoso, N.C.; Daniel, A.G.T.; Onuchic, L.F.; Cogliati, B. Mar 2, 2021 4319
THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCE/TRAKYA BOLGESI ERKEK INFERTILITE OLGULARINDA Y KROMOZOM MIKRODELESYONLARI VE SITOGENETIK ANOMALILERIN SIKLIGI: TEK MERKEZ DENEYIMI. Yalcintepe, Sinem; Eker, Damla; Gurkan, Hakan Mar 1, 2021 3403
Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee. Larson, Daniel P.; Akkari, Yassmine M.; Van Dyke, Daniel L.; Raca, Gordana; Gardner, Juli-Anne; Rehd Feb 1, 2021 7854
Clinical and Molecular Spectrum of Tuberous Sclerosis Complex Patients: Identification of Three Novel Mutations. Isik, Esra; Onay, Huseyin; Atik, Tahir; Solmaz, Asli Ece; Terek, Demet, Demet; Gokben, Sarenur Report Jan 19, 2021 4585
Qatar Biobank panel session shines light on ethical, legal, social implications in research with vulnerable populations. Dec 3, 2020 298
CHANGES IN CLINICAL AND CYTOGENETIC FINDINGS OF INVASIVE PRENATAL DIAGNOSIS FROM 1989 TO 2011 IN ISTANBUL; IMPACT OF THE BIOCHEMICAL SCREENING TESTS AND FETAL ULTRASONOGRAPHY/ISTANBUL'DA 1989-2011 YILLARI ARASINDA INVAZIF PRENATAL TANININ KLINIK VE SITOGENETIK BULGULARINDAKI DEGISIKLIKLER; BIYOKIMYASAL TARAMA TESTLERININ VE FETAL ULTRASONOGRAFININ ETKISI. Basaran, Seher; Karaman, Birsen; Kirgiz, Melike; Kalelioglu, Ibrahim Halil; Has, Recep; Dehgan, Tahi Dec 1, 2020 7203
Six-year experience of prenatal diagnosis for beta thalassemia in twin pregnancies and selective foetal reduction - A case series. Yasmeen Ehsan, Shabnam Bashir, Furqan Sabir, Mahmood Ghafoor and Shagufta Khaliq Nov 30, 2020 2161
Congenital hypothyroidism: Diagnosis and management of patients. Mansoor, Sumreena Report Oct 31, 2020 1434
Applied Genetic joins My Retina Tracker program as scientific collaborator. Oct 7, 2020 294
Analysis of PKD1 and PKD2 Gene Mutations for Autosomal Dominant Polycystic Kidney Disease Cases in Turkish Population. Sezgin, Ilhan; Kayatas, Mansur; Kurtulgan, Hande Kucuk; Yildirim, Malik Ejder; Baser, Burak; Timucin Oct 1, 2020 3855
Chromosomal Abnormalities in Couples with Primary and Secondary Infertility: Genetic Counseling for Assisted Reproductive Techniques (ART). Poornima, Subhadra; Daram, Swarnalatha; Devaki, Rama Krishna; Qurratulain, Hasan Oct 1, 2020 3359
A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study. Lanza, Giuseppe; Cali, Francesco; Vinci, Mirella; Cosentino, Filomena Irene Ilaria; Tripodi, Mariang Report Aug 31, 2020 6846
Clinical predictors of a positive test result in patients undergoing genetic evaluation for a hereditary kidney cancer syndrome. Kokorovic, Andrea; Thomas, Aidan; Serrano-Lomelin, Jesus; Ferguson, Meghan; Rendon, Ricardo A. Aug 1, 2020 4725
Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss. Cui, Tian-Yi; Gao, Xue; Huang, Sha-Sha; Sun, Yan-Yan; Zhang, Si-Qi; Jiang, Xin-Xia; Yang, Yan-Zhong; Jul 31, 2020 7443
When to Consider Genetic Counseling for Heart Disease: Identifying the genetic cause of heart disease can help ensure you get the right treatment while protecting your family. Jul 1, 2020 690
Prenatal Diagnosis and Molecular Cytogenetic Characterization of Copy Number Variations on 4p15.2p16.3, Xp22.31, and 12p11.1q11 in a Fetus with Ultrasound Anomalies: A Case Report and Literature Review. Zhang, Han; Xi, Qi; Liu, Xiangyin; Yue, Fagui; Zhang, Hongguo; Sun, Meiling; Liu, Ruizhi Jun 30, 2020 5049
Perceptions and Practice of Early Diagnosis of Sickle Cell Disease by Parents and Physicians in a Southwestern State of Nigeria. Olatunya, Oladele Simeon; Babatola, Adefunke Olarinre; Ogundare, Ezra Olatunde; Olofinbiyi, Babatund Jun 30, 2020 5554
Managing a woman with BRCA mutations? Shared decision-making is key: A collaborative assessment of options and trade-offs-perhaps using visual decision aids--can help. Schrager, Sarina; Torell, Emily; Ledford, Kate; Elezaby, Mae; Barroleit, Lisa; Sadowski, Elizabeth Jun 1, 2020 4640
DEFINING HEALTH-RELATED QUALITY OF LIFE IN LOCALIZED AND ADVANCED STAGES OF BREAST CANCER--THE FIRST STEP TOWARDS HEREDITARY CANCER GENETIC COUNSELING/DEFINIRANJE KVALITETE AIVOTA KOD BOLESNICA S LOKALIZIRANIM I UZNAPREDOVALIM STADIJEM RAKA DOJKE--PRVI KORAK PREMA ONKOLOSKOM GENETSKOM SAVJETOVANJU. Zigman, Tamara; Luksa, Ivana; Mihaljevic, Gloria; Zarkovic, Masa; Kirac, Iva; Vrdoljak, Danko Velimi Report Jun 1, 2020 4233
A Leaky Noisy-OR Bayesian Network Applied to Genetic Counseling in Dogs. Detilleux, Johann. C. Jun 1, 2020 5304
Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/[beta]-Catenin Signaling Pathway. Han, Shuai; Sun, Junhui; Yang, Liwei; Qi, Ming May 31, 2020 5109
Invitae Acquires AI Software Provider Diploid for USD 95m. Mar 12, 2020 152
Functional Characterization of a Missense Variant of MLH1 Identified in Lynch Syndrome Pedigree. Zaib, Tahir; Zhang, Chunhui; Saleem, Komal; Xu, Lidan; Qin, Qian; Wang, Yusi; Ji, Wei; Khan, Hanif; Mar 1, 2020 6032
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
Robertsonian and Balanced Reciprocal Translocation in Both Child and Mother with a History of Recurrent Abortions. Poornima, Subhadra; Daram, Swarnalatha; Krishna, Rama; Hasan, Qurratulain Jan 1, 2020 1345
Genetic Evaluation of Turkish patients with Colorectal Carcinoma in Terms of Lynch Syndrome by Targeted Next Generation Sequencing. Ozdemir, Taha Resid; Degirmenci, Mustafa Jan 1, 2020 3698
Genetic Counseling: Clinical Practice and Ethical Considerations. Brief article Jan 1, 2020 112
Two Cases of Menkes Disease Diagnosed with Hair Findings and Novel Mutation. Isikay, Sedat; Kirik, Serkan Clinical report Dec 1, 2019 1676
Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey/Juvenil Miyoklonik Epilepside EFHC1 Geni ile Iliskili Yatkinlik: Turkiye'den Ilk Olgu Sunumu. Sirinocak, Pinar Bekdik; Salman, Baris; Kesim, Fatma Yesim; Bebek, Nerses; Baykan, Betul; Iseri, Sib Dec 1, 2019 2364
The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas. Kurtulgan, Hande Kucuk; Altuntas, Emine Elif; Yildirim, Malik Ejder; Ozdemir, Ozturk; Bagci, Binnur; Dec 1, 2019 5750
Chromosomal Aberrations in Pediatric Patients with Developmental Delay/Intellectual Disability: A Single-Center Clinical Investigation. Hu, Ting; Zhang, Zhu; Wang, Jiamin; Li, Qinqin; Zhu, Hongmei; Lai, Yi; Wang, He; Liu, Shanling Nov 30, 2019 7706
Varian welcomes Dr Michelle Le Beau to its board. Nov 28, 2019 148
Spotlight on governance of human genome sequencing. Staff Report Nov 6, 2019 586
USPSTF recommendations on risk assessment, genetic counseling, and genetic testing for BRCA-related cancer. Style, Alyssa; Skolnik, Neil Nov 1, 2019 1024
Medical masters degrees at Cing. Press Release Sep 24, 2019 113
MyHeritage Acquires River Road Bio, Operator of Promethease and SNPedia. Sep 12, 2019 313
MyHeritage Acquires River Road Bio, Operator of Promethease and SNPedia. Sep 12, 2019 315
Deal snapshot: MYHERITAGE ACQUIRES RIVER ROAD BIO. Sep 12, 2019 115
Varian welcomes Dr Phil Febbo to its board. Aug 22, 2019 133
USPSTF Recommends Genetic Counseling for High BRCA Risk; But counseling not recommended for women without personal, family history, ancestry associated with BRCA mutations. Aug 20, 2019 304
Pediatric Swallowing and Feeding: Assessment and Management, 3rd Edition. Book review Aug 1, 2019 108
Akcea Therapeutics, Ambry Genetics expand hATTR Compass partnership. Jul 16, 2019 131
Genetic testing: Answers to your questions. Jul 1, 2019 1115
Genetic testing Answers to your questions DNA: Answers about genetic testing. Jul 1, 2019 1115
Deal snapshot: CIVILIZATION VENTURES AGREES TO PORTFOLIO EXIT WITH SALE OF SINGULAR BIO. Jun 20, 2019 133
Medical genetics, genomics and the future of medicine. Fieggen, Karen J.; Ntusi, Ntobeko A.B. Report Jun 1, 2019 2013
Hereditary Neuropathy with Liability to Pressure Palsy: A Case Diagnosed with a Quick Multiplex Ligation-dependent Probe Amplification Test. Kanmaz, Seda; Simsek, Erdem; Serin, Hepsen Mine; Erdogan, Murat Kadri; Yilmaz, Sanem; Aktan, Gul; Te Jun 1, 2019 1572
Importance of functional genomics in medical genetics. Gulec, Cagri Jun 1, 2019 264
Genetics of eye. Ercal, Derya Jun 1, 2019 350
Osteogenesis imperfecta type I caused by a novel mutation of the COL1A1 gene in Turkish family. Kekilli, Arda; Cankaya, Tufan Jun 1, 2019 252
The importance of dysmorphology in genetic diagnosis-a case report with index finger anomaly. Randa, Nadide Cemre; Erkal, Ozgur; Kalkan, Tarkan Jun 1, 2019 243
A case with mutation in the TNFRSF1A gene. Yucel, Hilal; Koc, Altug Jun 1, 2019 293
The role of cytokines in the pathophysiology of chronic tonsillitis. Babakurban, Seda Turkoglu; Akad, Selin; Terzi, Yunus Kasim; Erbek, Selim Sermed; Sahin, Feride Iffet Jun 1, 2019 249
A case of neurofibromatosis with a new neurofibromin mutation: c.5392C>T. Kocakap, Derya Beyza Sayin; Gunduz, Ozgur; Ozer, Leyla; Durak, Murat Jun 1, 2019 230
Molecular analysis of SMN1 and SMN2 genes with the patients pre-diagnosed with spinal muscular atrophy. Karasu, Nilgun; Dogan, Muhammet Ensar; Yildirim, Abdulbaki; Taskin, Duygu; Ozkul, Yusuf; Saatci, Cet Jun 1, 2019 292
Screening molecular markers in various hematological malignancies. Akyurek, Esra; Tascioglu, Nazife; Akalin, Hilal; Saatci, Cetin; Ozkul, Yusuf; Ozcan, Alper; Kaynar, Jun 1, 2019 277
Papillon-Lefevre Syndrome: Diagnosis, Dental Management, and a Case Report. Chedid, Jean-Claude Abou; Salameh, Michel; Outa, Abbass El-; Noujeim, Ziad E.F. May 31, 2019 3570
Quantifying the Levels of Knowledge, Attitude, and Practice Associated with Sickle Cell Disease and Premarital Genetic Counseling in 350 Saudi Adults. Al-Qattan, Heba M.; Amlih, Dana F.; Sirajuddin, Fatima S.; Alhuzaimi, Dalal I.; Alageel, Mai S.; Tuw May 31, 2019 4889
Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing. Yang, Kai; Shen, Ming; Yan, Yousheng; Tan, Ya; Zhang, Jing; Wu, Jue; Yang, Guangming; Li, Shang; Wan May 31, 2019 4568
Impact of the Polymorphism of the PACRG and CD80 Genes on the Development of the Different Stages of Tuberculosis Infection. Bragina, Elena Yu.; Babushkina, Nadezhda P.; Garaeva, Anna F.; Rudko, Alexey A.; Tsitrikov, Dmitry Y Report May 1, 2019 4966
A Lesson in Screening For Hereditary Kidney Cancer Syndromes. Curry, Cindy; Ernst, Kelly May 1, 2019 2144
Prenatal Sacrococcygeal Teratoma Diagnosed in a Fetus with Partial Trisomy 13q22. Dalal, Shana S.; Berry, Teresa; Pimentel, Veronica Maria Apr 30, 2019 1547
YouScript and Genome Medical Announce Partnership to Provide Clinical and Analytics Support for Genetic Risk Management. Apr 3, 2019 593
Myriad Genetics to present data on performance of its prenatal tests at ACMG. Apr 2, 2019 215
New genetic testing technologies: Advantages and limitations. Krause, A. Report Apr 1, 2019 2632
Longer trinucleotide repeats of androgen Receptor Gene: Infertility in males. Report Mar 31, 2019 670
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
KMC Medical Genetics Team discovers rare bone disorder. Dec 17, 2018 442
Health and fitness. Nov 29, 2018 475
Health and fitness. Nov 29, 2018 459
A new generation of scientists from Cing. Nov 27, 2018 242
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, Case study Nov 1, 2018 1989
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
Wayne and Sara Finley: Alabama's Trailblazers in Medical Cytogenetics. Weaver, William Nov 1, 2018 1731
KIF21A Gene c.2860C>T Mutation in CFEOMlA: The First Report from Iran. Ramahi, Masoomeh; Rad, Abolfazl; Shirzadeh, Ebrahim; Najafi, Maryam Case study Oct 1, 2018 2003
NxGen MDx signs genetic counselling agreement with Answer Health on Demand. Sep 20, 2018 200
Timely diagnosis of vascular Ehlers Danlos syndrome--the need for genetic testing and counselling. Feben, C.; Kromberg, J.; McDonald, A.; Krause, A. Report Sep 1, 2018 2244
Medical Speech-Language Pathology: A Desk Reference, 4th Edition. Book review Sep 1, 2018 198
CONSANGUINITY AND RISK OF CONGENITAL DEFECTS- A SYSTEMATIC REVIEW. Hemant, Charmode Sundip; Huchechesha, Kadlimatti Report Jul 30, 2018 4997
'Genetic defects in babies in Oman above global average'. Jul 29, 2018 737
Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines. Mackic-Durovic, Mirela; Stomornjak-Vukadin, Meliha; Ibrulj, Slavka Case study Jul 1, 2018 2001
Progressive Pseudorheumatoid Condrodysplasia, an Unusual Cause of Joint Swelling and Stiffness. Kilic, Esra Report Jun 1, 2018 1048
De Novo Mutation in ATP7A Gene with Severe Menkes Disease. Ustkoyuncu, Pembe Soylu; Guven, Ahmet Sami; Kiraz, Aslihan; Yilmaz, Aysegul; Bozdemir, Sefika Elmas; Jun 1, 2018 1728
Saudi Society for Medical Genetics approves 12 recommendations to combat diseases. May 21, 2018 211
QGP symposium focuses on genetic counselling & ethics. May 3, 2018 436
Qatar Genome Programme Symposium Concludes With Discussions on Genetic Counseling and Ethics. May 3, 2018 432
Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan. Apr 30, 2018 2793
TGFB1 and LAMA1 gene polymorphisms in children with high myopia. Report Apr 30, 2018 2661
Top university sets aside BD200,000 for research. Apr 19, 2018 148
Aeglea BioTherapeutics price target raised to $20 from $12 at Needham. Apr 13, 2018 104
South Nassau Communities Hospital Opens New Center for High-Risk Pregnancy Care. Mar 29, 2018 734
Over 2,000 patients screenedfor cancer by HMC since 2013. Mar 24, 2018 620
Over 2,000 patients screened for cancer by HMC since 2013. Mar 23, 2018 614
Over 2,000 screened for cancer by genetic counselling service. Mar 22, 2018 433
Over 2,000 Patients Screened for Cancer by HMC's Genetic Counseling and Testing Service. Mar 20, 2018 1038
40m Nigerians are healthy carriers of sickle cell gene - Prof. Akinyanju. Interview Mar 17, 2018 1125
Too Few Early Breast CA Patients Given Formal Genetic Counseling; 43.5% of women with early-stage breast cancer with indications for risk evaluation get counseling. Mar 14, 2018 271
Bahrain to host genomics conference. Conference news Mar 13, 2018 279
A "REVOLUTION" IN GENETIC TESTING. Interview Mar 1, 2018 472
Be alert for BAP1 mutations in hereditary melanomas. McNamara, Damian Mar 1, 2018 1070
Prevalence of Synchronous Oligopolyposis in Incident Colorectal Cancer: A Population-Based Study. Marques-Lespier, Juan M.; Soto-Salgado, Marievelisse; Gonzalez-Pons, Maria; Mendez, Vanessa; Bertran Mar 1, 2018 4567
Rare diseases' awareness campaign to be launched. Jan 25, 2018 388
A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family. Gao, Xue; Xu, Jin-Cao; Wang, Wei-Qian; Yuan, Yong-Yi; Bai, Dan; Huang, Sha-Sha; Wang, Guo-Jian; Su, Jan 1, 2018 3599
2018 GENETIC RESOURCES. Capizola, Jordan Jan 1, 2018 2185
CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations. Karimi, Nasibeh; Alibakhshi, Reza; Almasi, Shekoufeh Report Jan 1, 2018 4337
Is Genetic Counseling a Form of Eugenics?/Asesoramiento genetico: ?una practica que estimula la eugenesia?/Assessoria genetica: uma pratica que estimula a eugenia? Bernal, Ricardo Miguel Luque; Bejarano, Roberto Jose Buitrago Jan 1, 2018 7302
Formulation of Genetic Counseling Format for Adult Bangladeshi Patients with Acute Myeloid Leukemia. Rahman, M.Z.; Nishat, L.; Yesmin, Z.A.; Banu, L.A. Report Jan 1, 2018 2223
A Rare Case of Severe Congenital RYRl-Associated Myopathy. Laforgia, Nicola; Capozza, Manuela; de Cosmo, Lucrezia; Di Mauro, Antonio; Baldassarre, Maria Elisab Jan 1, 2018 3717
Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss. Zhang, Fengguo; Xu, Lei; Xiao, Yun; Li, Jianfeng; Bai, Xiaohui; Wang, Haibo Jan 1, 2018 3714
Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children. Guran, Tulay Report Dec 1, 2017 7944
FOURTEEN YEARS OF NEWBORN SCREENING FOR PHENYLKETONURIA IN VOJVODINA/CETRNAEST GODINA NOVORODENACKOG SKRININGA FENILKETONURIJE U VOJVODINI. Kavecan, Ivana; Jovanovic, Jadranka; Privrodski, Boris; Obrenovic, Milan; Mudrinic, Tatjana Redzek Report Nov 1, 2017 3149
Saliva screening can help cancer diagnosis, say experts. Oct 21, 2017 452
Stem Cells Communicate With Neighbor Cells Using Signal Proteins. Hengstschlager, Markus Sep 25, 2017 392
Research of genetic bases of hereditary non-syndromic hearing loss. Subasioglu, Asli; Duman, Duygu; Sirmaci, Asli; Bademci, Guney; Carkit, Fehime; Somdas, Mehmet Akif; Report Sep 1, 2017 7093
Rare genetic mutation identified by Omani researcher. Aug 5, 2017 148
Ambry Releases Two Paired Somatic/Germline Tests. Jun 7, 2017 285
PARP inhibitors: new developments in ovarian cancer. Tran, Arthur-Quan; Rossi, Emma C. Jun 1, 2017 1040
A Rare Genodermatosis: H Syndrome. Sezer, Ozlem; Ozen, Duriye Sila Karagoz; Demirag, Mehmet Derya; Toto, Ismail; Ozturk, Hacer Pinar; T Case study Jun 1, 2017 375
A Case of SHOX Gene Deletion Diagnosed By Microarray. Pariltay, Erhan; Isik, Esra; Atik, Tahir; Cogulu, Ozgur; Ozkinay, Ferda Case study Jun 1, 2017 257
HOXC4 Gene is Possibly Responsible for Lin-Gettig Syndrome. Atik, Tahir; Isik, Esra; Ozen, Samim; Akgun, Bilcag; Onay, Huseyin; Cogulu, Ozgur; Erguner, Bekir; S Case study Jun 1, 2017 319
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
Strong women INWALES who prove we can flourish together. May 15, 2017 698
Cell-free DNA: real-world obstacles plague noninvasive prenatal testing use. Oakes, Kari May 1, 2017 1314
L'Heureux Named Chief Executive Officer at Progeny Genetics. Apr 27, 2017 282
Rising frequency of hereditary diseases in Cyprus. Apr 21, 2017 324
Managing wealth. Apr 19, 2017 972
Managing wealth; IN THE COMPANY OF... Apr 19, 2017 852
Variantyx Launches Genomic Intelligence Clinical Diagnostic Platform. Clinical report Mar 23, 2017 191
A Rabbi Pushes for Genetic Testing Beyond Tay-Sachs Disease. Rochman, Bonnie Feb 28, 2017 275
PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti's Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family. Meng, Xiaohong; Li, Qiyou; Guo, Hong; Xu, Haiwei; Li, Shiying; Yin, Zhengqin Jan 1, 2017 4262
Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome. Li, Kuanshu; Yang, Liu; Liu, Ying; Lin, Ding Report Jan 1, 2017 2631
The Promise of Genomic Studies on Human Diseases: From Basic Science to Clinical Application. Tsoi, Lam C.; Wolf, Bethany; Chen, Y. Ann Report Jan 1, 2017 835
Novel Implications in Molecular Diagnosis of Lynch Syndrome. Liccardo, Raffaella; Rosa, Marina De; Izzo, Paola; Duraturo, Francesca Report Jan 1, 2017 9099
Split-Hand Malformation in a 4-Year-Old Child. Meshram, Girish Gulab; Hura, Kanwaljeet Singh; Kaur, Neeraj Disease/Disorder overview Jan 1, 2017 1250
Biochemical and Molecular Analysis of the Hb Lepore Boston Washington in a Syrian Homozygous Child. Pirastru, Monica; Manca, Laura; Trova, Sandro; Mereu, Paolo Clinical report Jan 1, 2017 3765
Construction of Multilevel Structure for Avian Influenza Virus System Based on Granular Computing. Li, Yang; Liang, Qi-Hao; Sun, Meng-Meng; Tang, Xu-Qing; Zhu, Ping Report Jan 1, 2017 4610
Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing. Bernardis, Isabella; Chiesi, Laura; Tenedini, Elena; Artuso, Lucia; Percesepe, Antonio; Artusi, Vale Report Jan 1, 2017 7788
ExCNVSS: A Noise-Robust Method for Copy Number Variation Detection in Whole Exome Sequencing Data. Kong, Jinhwa; Shin, Jaemoon; Won, Jungim; Lee, Keonbae; Lee, Unjoo; Yoon, Jeehee Report Jan 1, 2017 8199
Deteccion de mutaciones en el gen F8 en mujeres portadoras y en pacientes con hemofilia A. Identificacion de una mutacion nueva. Lopez-Vasquez, Lucia; Albanez, Silvia; Pestana, Carolina; Porco, Antonietta Dec 1, 2016 4201
Doctor's column: Understanding medical genetics. Column Oct 22, 2016 303
Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene. Nur, Banu Guzel; Celmeli, Gamze; Manguoglu, Esra; Soyucen, Erdogan; Bircan, Iffet; Mihci, Ercan Case study Sep 1, 2016 2509
Review of the 2015 Guidelines for Maternity Care with relevance to congenital disorders. Malherbe, H.L.; Woods, D.L.; Aldous, C.; Christianson, A.L. Book review Jul 1, 2016 2965
DNA testing and genetic counseling service. Jul 1, 2016 195
Homozygosity for a Robertsonian translocation (13q;14q) in a phenotypically normal 44, XX female with a history of recurrent abortion and a normal pregnancy outcome. Miryounesi, Mohammad; Diantpour, Mehdi; Motevaseli, Elahe; Ghafouri-Fard, Soudeh Clinical report Jul 1, 2016 1974
Mum's OBE for services to genetics. May 6, 2016 471
Genetics and genomics of pathogens: fighting infections with genome-sequencing technology. Plavskin, Alexandra Mar 1, 2016 3359
Knowledge regarding basic concepts of hereditary cancers, and the available genetic counselling and testing services: a survey of general practitioners in Johannesburg, South Africa. van Wyk, C.; Wessels, T.-M.; Kromberg, J.G.R.; Krause, A. Report Mar 1, 2016 3758
Genetic and family counselling for schizophrenia: where do we stand now? Roos, Johannes L. Report Feb 1, 2016 4347
What I miss most about India.. Three decades after arriving in Wales as a newlywed 19-year-old, there are lots of things Meena Upadhyaya still misses about India. But the professor of medical genetics at Cardiff University and founder of the Ethnic Minority Welsh Women Achievement Association really couldn't imagine a life without Welshcakes now... Nov 14, 2015 655
Clinicohaematological spectrum of haemoglobinopathies a hospital based study. Deb, Tanushree; Deb, Dipankar; Kar, Giridhari; Pujar, Ravikumar; Bhattacharjee, Raj Kumar Report Oct 26, 2015 2855
Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family/Enfermedad de Charcot Marie tooth (CMT4A) por mutacion en el gen GDAP1: reporte de una familia colombiana. Martin, Angela M.; Maradei, Silvia J.; Velasco, Harvy M. Oct 1, 2015 3192
Currently Clinical Views on Genetics of Wilson's Disease. Chen, Chen; Shen, Bo; Xiao, Jia-Jia; Wu, Rong; Canning, Sarah Duff; Wang, Xiao-Ping Clinical report Jul 5, 2015 3988
Understanding the genetic diversity of South Africa's peoples. Krause, Amanda Report Jul 1, 2015 1841
Invitae to elect Dr Robert Nussbaum as its CMO to lead medical organisation. Apr 28, 2015 223
Invitae to elect Dr Robert Nussbaum as its CMO to lead medical organisation. Apr 28, 2015 219
Medico-Genetics of Oculocutaneous Albinism; An Updated Study with Pakistani Perspective. Report Mar 31, 2015 2608
Sudden Cardiac Death: A Modern Pathology Approach to Hypertrophic Cardiomyopathy. Kocovski, Linda; Fernandes, John Mar 1, 2015 3308
Clinical exome performance for reporting secondary genetic findings. Park, Jason Y.; Clark, Peter; Londin, Eric; Sponziello, Marialuisa; Kricka, Larry J.; Fortina, Paolo Report Jan 1, 2015 5135
Baylor College of Medicine, Miraca Holdings agree on joint venture on clinical genetic testing. Oct 31, 2014 545
Genetic counselling in psychiatry: scope and challenges. Ghosh, Prosenjit Oct 9, 2014 4508
Harlequin ichthyosis: the third babies with harlequin ichthyosis in a family. Konca, Capan Letter to the editor Sep 1, 2014 1133
Mutation analysis of exons 10 and 17a of CFTR gene in patients with cystic fibrosis in Kermanshah province, western Iran. Sahami, Abbas; Alibakhshi, Reza; Ghadiri, Keyghobad; Sadeghi, Hamid Report Jan 1, 2014 3825
The physician who knew too much: a comment on Watters v. White. Zawati, Ma'n H.; Thorogood, Adrian Case note Jan 1, 2014 9076
Human genetics in Johannesburg, South Africa: past, present and future. Kromberg, J.G.R.; Krause, A. Report Dec 1, 2013 4982
The elusive gene for keratolytic winter erythema. Hull, P.R.; Hobbs, A.; Aron, S.; Ramsay, M. Report Dec 1, 2013 3762
Neural tube defects in Gauteng, South Africa: recurrence risks and associated factors. Teckie, G.; Krause, A.; Kromberg, J.G.R. Report Dec 1, 2013 5048
Testing for haemoglobinopathies in Johannesburg, South Africa: a 30-year review. Krause, A.; Wainstein, T.; Essop, F.B.; Goodyear, Q. Report Dec 1, 2013 5188
Ethical issues and Huntington's disease. Kromberg, J.G.R.; Wessels, T.-M. Report Dec 1, 2013 4570
Characteristics and prognosis of adult acute myeloid leukemia with internal tandem duplication in the FLT3 gene. Mawali, Adhra Al-; Gillis, David; Lewis, Ian Report Nov 1, 2013 5786
Decreased expressions of toll-like receptor 9 and its signaling molecules in chronic hepatitis B virus--infected patients. Sajadi, Seyyed Mohammad Ali; Mirzaei, Vahid; Hassanshahi, Gholamhossein; Khorramdelazad, Hossein; Da Report Nov 1, 2013 3640
The expression of PTEN is associated with improved prognosis in patients with ampullary adenocarcinoma after pancreaticoduodenectomy. Report Nov 1, 2013 5409
Source of periodontitis in nervous system. Oct 1, 2013 327
A comprehensive assay for CFTR mutational analysis using next-generation sequencing. Tayoun, Ahmad N. Abou; Tunkey, Christopher D.; Pugh, Trevor J.; Ross, Tristen; Shah, Minita; Lee, Cl Report Oct 1, 2013 5000
The phenotype/genotype correlation of lactase persistence among Omani adults. Abri, Abdulrahim Al-; Bayoumi, Riad Report Sep 1, 2013 2627
Ill-advised genetic counseling. Sep 1, 2013 253
Implementation of a breast cancer genetic service in South Africa--lessons learned. Schoeman, M.; Apffelstaedt, J.P.; Baatjes, K.; Urban, M. Aug 1, 2013 4308
Association between PNPLA8 gene polymorphism and schizophrenia in male patients. Yu, Q.; Yu, Y.; Shi, J.; Sang, H. Report Aug 1, 2013 1233
Symmetric snapback primers for scanning and genotyping of the cystic fibrosis transmembrane conductance regulator gene. Zhou, Luming; Palais, Robert A.; Ye, Felix; Chen, Jimmy; Montgomery, Jesse L.; Wittwer, Carl T. Report Jul 1, 2013 5191
MS research under the sea. Bernstein, Sara Jun 22, 2013 809
American College of Medical Genetics and Genomics Noninvasive Prenatal Screening Policy Statement Includes Lettercase and Brighter Tomorrows as Recommended Resource. Apr 12, 2013 456
Evaluation of gene SCNN1A responsible for the synthesis of alpha subunit of epithelial sodium channel in transient tachypnea of newborn/Yenidoganin gecici takipnesinde epiteliyal sodyum kanali alfa alt biriminin sentezinden sorumlu SCNN1A geninin degerlendirilmesi. Oztekin, Osman; Akyol, Mahmut; Kalay, Salih; Tezel, Gonul; Akcakus, Mustafa; Oygur, Nihal Report Mar 1, 2013 3139
Epigenetics and the social work imperative. Combs-Orme, Terri Report Jan 1, 2013 5092
Genetics Center takes part in global meet. Nov 12, 2012 330
The year in human and medical genetics; inborn errors of immunity I. Book review Oct 1, 2012 178
The University of Cape Town's contribution to medical genetics in Africa--from the past into the future. Beighton, P.; Fieggen, K.; Wonkam, A.; Ramesar, R.; Greenberg, J. Report Jun 1, 2012 2640
Next-generation sequencing: genetics in your practice. Hulick Apr 1, 2012 655
Coronary artery disease from a perspective of genomic risk score, ethical approaches and suggestions/Genomik risk skorlamasi perspektifinden koroner arter hastaligi, etik yaklasim ve oneriler. Agirbasli, Deniz; Ulman, Yesim Isil Report Mar 1, 2012 5400
Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns. Sista, Ramakrishna S.; Eckhardt, Allen E.; Wang, Tong; Graham, Carrie; Rouse, Jeremy L.; Norton, Sco Oct 1, 2011 5603
Eugenics, genetics, and the minority group model of disabilities: implications for social work advocacy. O'Brien, Gerald V. Report Oct 1, 2011 5535
A non-mosaic ring chromosome 9 in a newborn baby referred for ambiguous genitalia: a case study. Mazzaschi, Roberto L.P.; Love, Donald R.; George, Alice; Aftimos, Salim Case study Aug 1, 2011 1954
Velocardiofacial syndrome--a syndrome with many faces. Lombard, M.; Roos, J.L. Case study Aug 1, 2011 4800
Frequency and clinical genetics of familial dilated cardiomyopathy in Cape Town: implications for the evaluation of patients with unexplained cardiomyopathy. Ntusi, Ntobeko B.A.; Wonkam, Ambroise; Shaboodien, Gasnat; Badri, Motasim; Mayosi, Bongani M. Report Jun 1, 2011 4303
Effectiveness of prenatal screening for Down syndrome on the basis of maternal age in Cape Town. Urban, M.F.; Stewart, C.; Ruppelt, T.; Geerts, L. Report Jan 1, 2011 3216
Genetics curriculum materials for the 21st century. Dawson, Vaille; Carson, Katherine; Venville, Grady Report Dec 1, 2010 3385
BREAKING HEALTH newsbulletin University's pounds 150,000 [...]. Nov 8, 2010 427
Leading genetic research in online archive; Scientists' work preserved. Nov 8, 2010 354
Ethical issues in predictive pediatric genetic testing. Holaday, Bonnie Report Oct 1, 2010 2674
A Robertsonian translocation rob (14;15) (q10:q10) in a patient with recurrent abortions: a case report. Venkateshwari, Ananthapur; Srilekha, Avvari; Sunitha, Tella; Pratibha, Nallari; Jyothy, Akka Report Sep 1, 2010 1443
The clinical scientist in diagnostic pathology. Legge, Mike Report Aug 1, 2010 2663
Analisis de marcadores STR sobre el cromosoma X en una poblacion de Bogota. Siza Fuentes, Luz Miryam; Sanchez, Daissy Lorena; Milena Gomez, Yenny; Martin Restrepo, Carlos; Guti Jul 1, 2010 1827
Staking the public trust on newborn dried blood spot retention: how the Beleno and Bearder decisions may impact Canadian Newborn Metabolic Screening Processes. Barr, Graham Jun 22, 2010 5869
The Center for Legal and Medical Genetics Launches New Paternity Testing Website: www.centredegenetique.ca. Apr 25, 2010 164
Developing a national newborn screening strategy for Canada. Wilson, Kumanan; Kennedy, Shelley J.; Potter, Beth K.; Geraghty, Michael T.; Chakraborty, Pranesh Mar 22, 2010 4870
Disclosing non paternity in genetic counselling: in Italy the law overcomes the bioethical debate. Caenazzo, Luciana; Tozzo, Pamela; Rodriguez, Daniele Report Jan 1, 2010 2884
Advances in Medical Genetics Highlight 2nd Qatar Genetics Symposium. Nov 1, 2009 741
Medical genetics in India--what needs to be done? Agarwal, S.S. Editorial Oct 1, 2009 1580
Age at diagnosis of autism spectrum disorders in four regions of Canada. Ouellette-Kuntz, Helene M.J.; Coo, Helen; Lam, Miu; Yu, C.T.; Breitenbach, Marlene M.; Hennessey, Pa Report Jul 1, 2009 4286
'DNA Sudoku' to revolutionise genome sequencing, medical genetics. Jun 25, 2009 391
Constructing & using case studies in genetics to engage students in active learning. Styer, Susan C. Mar 1, 2009 1140
Price battles slow worldwide sales growth. Jan 19, 2009 542
Molecular diagnostics clinical laboratory science course design: making it real. Rohde, Rodney E.; Falleur, David M.; Kostroun, Phil Jan 1, 2009 4152
Increased C3-carnitine in a healthy premature infant. Chapman, Kimberly A.; Bennett, Michael J.; Sondheimer, Neal Nov 1, 2008 3286
Cirrhosis originally diagnosed as nonalcoholic steatohepatitis. Snyder, Marion L.; Fantz, Corinne R. Aug 1, 2008 3521
The laboratory's role in pharmacogenetic testing. Oleschuck, Curtis May 1, 2008 1289
Association between the UGT1A1 TA-repeat polymorphism and bilirubin concentration in patients with intermittent claudication: results from the CAVASIC study. Rantner, Barbara; Kollerits, Barbara; Anderwald-Stadler, Marietta; Klein-Weigel, Peter; Gruber, Ingr Clinical report May 1, 2008 4784
Lederberg, Nobel Prize winner. Apr 1, 2008 202
Royal award for medical team's genetics work. Feb 15, 2008 321
Application of biochemical genetics to genetically characterize mosquito vectors. Samuel, Philip Oct 1, 2007 7374
'Genetic medicine' for internists. Taylor, Matthew R.G. Aug 1, 2007 856
El consejo genetico desde una perspectiva bioetica personalista. Gajardo Ugas, Alejandra Report Jul 1, 2007 2739
Document will help you deliver competent care in the genomic era. Brief article Dec 1, 2006 227
The promise of personalized medicine: our genes might one day lead to more personal medications; in some ways, they already have. Mar 1, 2006 1094
Determination of SMN1/SMN2 gene dosage by a quantitative genotyping platform combining capillary electrophoresis and MALDI-TOF mass spectrometry. Kao, Hung-Yi; Su, Yi-Ning; Liao, Hsin-Kai; Liu, Ming S.; Chen, Yu-Ju Mar 1, 2006 5410
Urinary lipid profiling for the identification of fabry hemizygotes and heterozygotes. Fuller, Maria; Sharp, Peter C.; Rozaklis, Tina; Whitfield, Phillip D.; Blacklock, David; Hopwood, Jo Apr 1, 2005 4684
In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics. Tchernitchko, Dimitri; Goossens, Michel; Wajcman, Henri Nov 1, 2004 3332
Muscle-strenghtening gene may reverse muscle wasting in muscular dystrophy patients. Sep 30, 2004 160
Icos obtains United States patent. Brief Article Sep 1, 2004 88
Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNA polymorphisms. Li, Ying; Zimmermann, Bernhard; Rusterholz, Corinne; Kang, Anjeung; Holzgreve, Wolfgang; Hahn, Sinuh Jun 1, 2004 6041
Direct visualization of cystic fibrosis transmembrane regulator mutations in the clinical laboratory setting. Strom, Charles M.; Clark, David D.; Hantash, Feras M.; Rea, Larry; Anderson, Ben; Maul, Diana; Huang May 1, 2004 6375
Familial frontotemporal dementia: from gene discovery to clinical molecular diagnostics. Van Deerlin, Vivianna M.; Gill, Lisa H.; Farmer, Jennifer M.; Trojanowski, John Q.; Lee, Virginia M. Oct 1, 2003 7166
Discovering the genetics of autism. (Medicine & Health). Pericak-Vance, Margaret A. Jan 1, 2003 2452
Fluorescent, multiplexed, automated, primer-extension assay for 3120+1G [right arrow] a and I148t mutations in cystic fibrosis. Brown, Nicholas M.; Bernacki, Susan; Pratt, Victoria M.; Stenzel, Timothy T. Nov 1, 2001 1744
DNA Technology, the Clinical Laboratory, and the Future. Kiechle, Frederick L. Jan 1, 2001 4317
Comparative Genomic Hybridization A New Tool for Reproductive Pathology. Barrett, Irene J.; Lomax, Brenda L.; Loukianova, Tatiana; Tang, Steven S.; Lestou, Valia S.; Kalouse Jan 1, 2001 2977
Hoechst 33342-Induced Apoptosis Is Associated With Intracellular Accumulation of E2F-1 Protein in BC3H-1 Myocytes and HL-60 Cells. Zhang, Xinbo; Kiechle, Frederick L. Jan 1, 2001 3798
Use of Buccal Cells Collected in Mouthwash as a Source of DNA for Clinical Testing. Heath, Ellen M.; Morken, Nathaniel W.; Campbell, Kristen A.; Tkach, Dennis; Boyd, Erin A.; Strom, Da Jan 1, 2001 4306
Genetic testing: What's here, what's ahead. Lippman, Helen Brief Article Aug 1, 2000 669
Don't Take Liberties with Our Genes. Bereano, Phil Sep 22, 1999 1515
Characteristics of clinical molecular-genetic testing laboratories in the United States. Hofgartner, Wolfgang T.; Tait, Jonathan F. Survey Aug 1, 1999 1915
A Conceptual Framework for the Psychosocial Issues Faced by Families with Genetic Conditions(*). STREET, EDDY; SOLDAN, JO Sep 22, 1998 8850
Repeating DNA linked to schizophrenia. Travis, John Nov 8, 1997 592
Can preventive mastectomies prolong lives? Seppa, Nathan May 17, 1997 607
What good is the cystic fibrosis gene? Travis, John Brief Article May 17, 1997 450
Gen-ethics: more than just an academic exercise. Statland, Bernard E. Dec 1, 1996 1151
Testing genes: physicians wrestle with the information that genetic tests provide. Seachrist, Lisa Dec 9, 1995 2079
Seizing two genes for fast heartbeat. Fackelmann, Kathleen Mar 11, 1995 663
A rat-and-mouse game: mapping the rat genome opens new paths in biomedical research. Kaiser, Jocelyn Mar 11, 1995 1611
Environmental risks can be predicted. Feb 1, 1995 356
All rights reserved: how the gene-patenting race is affecting science. Wuethrich, Bernice Cover Story Sep 4, 1993 3483
The human genome as metaphor. Stein, Howard F. Editorial Sep 1, 1992 1750
Fooling with Mother Nature. Gaylin, Willard Jan 1, 1990 4337
Genetics and human malleability. Anderson, W. French Jan 1, 1990 2736
Mutation revealed for adult Tay-Sachs. Wickelgren, Ingrid Mar 18, 1989 390
Mom's mitochondria may hold mutation. Young, Patrick Jul 30, 1988 571
Genetic roadblocks: the body may not always resist cancer, but it does have built-in barricades to slow the spread. Beil, Laura Jul 23, 1988 1071
Enzyme inhibition key to Alzheimer's? Edwards, Diane D. Feb 13, 1988 364
Pattern B another genetic heart risk? Edwards, Diane D. Jan 30, 1988 716
Huntington's marker. Nov 28, 1987 210
Better animal models for genetic defects. Eisenberg, Steve Nov 21, 1987 537
Gene search narrows. Weiss, Rick Jun 6, 1987 311
Colorectal oncogenes found. May 30, 1987 129
Hereditary factors in AIDS? May 16, 1987 183
Closing in on the cystic fibrosis gene. May 9, 1987 164
The heart and heredity. Silberner, Joanne Nov 23, 1985 307
Two genes for Joseph disease. Miller, Julie Ann Nov 23, 1985 95
Muscular dystrophy defect located. Silberner, Joanne Sep 7, 1985 695
At risk for Down's syndrome. Aug 3, 1985 174

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