| 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 |
