Works matching DE "GENETIC disorder diagnosis"

Results: 2789

Preimplantation diagnosis of genetic diseases.

Published in:

Journal of Postgraduate Medicine, 2010, v. 56, n. 4, p. 317

By:

Adiga, S. K.;
Kalthur, G.;
Kumar, P.;
Girisha, K. M.

Publication type:

Article

Genetic testing and human autonomy.

Published in:

South African Journal of Philosophy, 2004, v. 23, n. 1, p. 69, doi. 10.4314/sajpem.v23i1.31385

By:

Beckman, Jan P.

Publication type:

Article

Factors affecting mothers’ knowledge of genetic screening.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2004, v. 44, n. 1, p. 30, doi. 10.1111/j.1479-828X.2004.00171.x

By:

Suriadi, Christine;
Jovanovska, Mirjana;
Quinlivan, Julie A.

Publication type:

Article

Factoring Them In: Shining the Spotlight on Women and Girls with Congenital Bleeding Disorders.

Published in:

Journal of Women's Health (15409996), 2020, v. 29, n. 5, p. 608, doi. 10.1089/jwh.2019.8255

By:

Carpenter, Shannon L.

Publication type:

Article

A Cross-Sectional Study of Women and Girls with Congenital Bleeding Disorders: The American Thrombosis and Hemostasis Network Cohort.

Published in:

Journal of Women's Health (15409996), 2020, v. 29, n. 5, p. 670, doi. 10.1089/jwh.2019.7930

By:

Haley, Kristina M.;
Sidonio Jr., Robert F.;
Abraham, Shirley;
Dunlei Cheng;
Recht, Michael;
Kulkarni, Roshni

Publication type:

Article

Correlation-based feature selection and classification via regression of segmented chromosomes using geometric features.

Published in:

2017

By:

Arora, Tanvi;
Dhir, Renu

Publication type:

journal article

LA IMPORTANCIA DEL DIAGNÓSTICO GENÉTICO PREIMPLANTACIONAL A LA LUZ DE LOS DERECHOS HUMANOS.

Published in:

Revista Jurídica de la Universidad Autonóma de Madrid, 2017, n. 35, p. 267, doi. 10.15366/rjuam2017.35.009

By:

PABLO NOTRICA, FEDERICO

Publication type:

Article

Guideline on Dental Management of Heritable Dental Developmental Anomalies.

Published in:: Pediatric Dentistry, 2014, v. 36, n. 6, p. 264
Publication type:: Article

Electroretinographic oscillatory potentials in Leber hereditary optic neuropathy.

Published in:

Documenta Ophthalmologica, 2024, v. 148, n. 3, p. 133, doi. 10.1007/s10633-024-09968-9

By:

Barboni, Mirella T. S.;
Sustar Habjan, Maja;
Petrovic Pajic, Sanja;
Hawlina, Marko

Publication type:

Article

Dark-adapted threshold and electroretinogram for diagnosis of Usher syndrome.

Published in:

Documenta Ophthalmologica, 2021, v. 143, n. 1, p. 39, doi. 10.1007/s10633-021-09818-y

By:

Ambrosio, Lucia;
Hansen, Ronald M.;
Moskowitz, Anne;
Oza, Andrea;
Barrett, Devon;
Manganella, Juliana;
Medina, Genevieve;
Kawai, Kosuke;
Fulton, Anne B.;
Kenna, Margaret

Publication type:

Article

Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism.

Published in:

Documenta Ophthalmologica, 2017, v. 134, n. 2, p. 135, doi. 10.1007/s10633-017-9574-1

By:

Gradstein, Libe;
Hansen, Ronald;
Cox, Gerald;
Altschwager, Pablo;
Fulton, Anne

Publication type:

Article

Intentions for risk-reducing surgery among high-risk women referred for BRCA1/BRCA2 genetic counseling.

Published in:

Psycho-Oncology, 2015, v. 24, n. 1, p. 33, doi. 10.1002/pon.3560

By:

Tong, Angie;
Kelly, Scott;
Nusbaum, Rachel;
Graves, Kristi;
Peshkin, Beth N.;
Valdimarsdottir, Heiddis B.;
Wood, Marie;
McKinnon, Wendy;
Garber, Judy;
McCormick, Shelley R.;
Jandorf, Lina;
Schwartz, Marc D.

Publication type:

Article

Hereditary melanoma and predictive genetic testing: why not?

Published in:

Psycho-Oncology, 2005, v. 14, n. 9, p. 738, doi. 10.1002/pon.901

By:

Riedijk, S.R.;
de Snoo, F.A.;
van Dijk, S.;
Bergman, W.;
van Haeringen, A.;
Silberg, S.;
van Elderen, T.M.T.;
Tibben, A.

Publication type:

Article

BRCA1 TESTING: SOME ISSUES IN MOVING FROM RESEARCH TO SERVICE.

Published in:

Psycho-Oncology, 1996, v. 5, n. 3, p. 223, doi. 10.1002/(SICI)1099-1611(199609)5:3<223::AID-PON237>3.0.CO;2-X

By:

Ponder, Maggie;
Green, Josephine M.

Publication type:

Article

PSYCHOSOCIAL IMPACT OF TESTING (BY LINKAGE) FOR THE BRCA1 BREAST CANCER GENE: AN INVESTIGATION OF TWO FAMILIES IN THE RESEARCH SETTING.

Published in:

Psycho-Oncology, 1996, v. 5, n. 3, p. 233, doi. 10.1002/(SICI)1099-1611(199609)5:3<233::AID-PON238>3.0.CO;2-T

By:

Watson, M.;
Lloyd, S. M.;
Eeles, R.;
Ponder, B.;
Eastonp, D.;
Seal, S.;
D.Averill;
Daly, P.;
Ormiston, W.;
Murday, V.

Publication type:

Article

MALES AT-RISK FOR THE BRCA1-GENE, THE PSYCHOLOGICAL IMPACT.

Published in:

Psycho-Oncology, 1996, v. 5, n. 3, p. 251, doi. 10.1002/(SICI)1099-1611(199609)5:3<251::AID-PON225>3.0.CO;2-6

By:

de Wit, A. C. Dudok;
Tibben, A.;
Frets, P. G.;
Meuers-Heuboer, E. J.;
Devilee, P.;
Niermeijer, M. F.

Publication type:

Article

ACCEPTANCE OF INVITATIONS FOR p53 AND BRCA1 PREDISPOSITION TESTING: FACTORS INFLUENCING POTENTIAL UTILIZATION OF CANCER GENETIC TESTING.

Published in:

Psycho-Oncology, 1996, v. 5, n. 3, p. 241, doi. 10.1002/(SICI)1099-1611(199609)5:3<241::AID-PON235>3.0.CO;2-6

By:

Patenaude, Andrea Farkas;
Schneider, Katherine A.;
Kieffer, Schphanie A.;
Calzone, Kathleen A.;
Stopfer, Jill E.;
Basili, Laura A.;
Weber, Barbara L.;
Gabber, Judy E.

Publication type:

Article

TTR Val142Ile: Bystander Genetic Finding or Diagnosis? Response to Editor.

Published in:

Pediatric Cardiology, 2023, v. 44, n. 2, p. 501, doi. 10.1007/s00246-022-03086-6

By:

Torpoco Rivera, Diana Milagros;
Williams, Celeste T.;
Karpawich, Peter P.

Publication type:

Article

TTR Val142Ile: Bystander Genetic Finding or Diagnosis?

Published in:

Pediatric Cardiology, 2023, v. 44, n. 2, p. 499, doi. 10.1007/s00246-022-03085-7

By:

Kontorovich, Amy R.;
Abul-Husn, Noura S.

Publication type:

Article

Rotational Position of the Aortic Root is Associated with Increased Aortic Dimensions in Marfan and Loeys–Dietz Syndrome.

Published in:

Pediatric Cardiology, 2021, v. 42, n. 5, p. 1157, doi. 10.1007/s00246-021-02594-1

By:

Powell, Shannon K.;
Almeneisi, Hassan;
Alsaied, Tarek;
Shikany, Amy;
Riley, Laura;
Miller, Erin;
Belonis, Alyce;
Weaver, Kathryn Nicole;
Brown, Nicole;
Mori, Shumpei;
Tretter, Justin T.

Publication type:

Article

Left Ventricular Non-compaction: Is It Genetic?

Published in:

Pediatric Cardiology, 2015, v. 36, n. 8, p. 1565, doi. 10.1007/s00246-015-1222-5

By:

Ting, Teck;
Jamuar, Saumya;
Brett, Maggie;
Tan, Ee;
Cham, Breana;
Lim, Jiin;
Law, Hai;
Tan, Ene;
Choo, Jonathan;
Lai, Angeline

Publication type:

Article

Systemic and ocular associations in pediatric patients undergoing cataract surgery.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2023, v. 261, n. 1, p. 241, doi. 10.1007/s00417-022-05802-7

By:

Nihalani, Bharti R.;
VanderVeen, Deborah K.

Publication type:

Article

Yield of genetic evaluation in non-syndromic pediatric moyamoya patients.

Published in:

Child's Nervous System, 2024, v. 40, n. 3, p. 801, doi. 10.1007/s00381-023-06167-w

By:

Slingerland, Anna L.;
Keusch, Dylan S.;
Lehman, Laura L.;
Smith, Edward R.;
Srivastava, Siddharth;
See, Alfred P.

Publication type:

Article

3-D ultrasound imaging of a prenatally diagnosed Beckwith-Wiedemann syndrome.

Published in:

2011

By:

Eckmann-Scholz, Christel;
Jonat, Walter

Publication type:

Case Study

A case of third trimester diagnosis of Cornelia de Lange syndrome.

Published in:

2011

By:

Kanellopoulos, V.;
Iavazzo, C.;
Tzanatou, C.;
Papadakis, E.;
Tassis, K.

Publication type:

journal article

Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders.

Published in:

Acta Neuropathologica, 2013, v. 125, n. 2, p. 173, doi. 10.1007/s00401-012-1072-7

By:

Vasli, Nasim;
Laporte, Jocelyn

Publication type:

Article

Genes and Pulmonary Arterial Hypertension.

Published in:

Respiration, 2007, v. 74, n. 2, p. 123, doi. 10.1159/000098818

By:

Sztrymf, Benjamin;
Yaïci, Azzedine;
Girerd, Barbara;
Humbert, Marc

Publication type:

Article

Cancer: Staying together on the road to metastasis.

Published in:

Nature, 2014, v. 514, n. 7522, p. 309, doi. 10.1038/514309a

By:

Bottos, Alessia;
Hynes, Nancy E.

Publication type:

Article

Fast genetic sequencing saves newborn lives.

Published in:

Nature, 2014, v. 514, n. 7520, p. 13, doi. 10.1038/514013a

By:

Reardon, Sara

Publication type:

Article

A Case of Cribriform-Morular Thyroid Carcinoma Presenting Without Thyroid Nodule.

Published in:

JCEM Case Reports, 2024, v. 2, n. 4, p. 1, doi. 10.1210/jcemcr/luae062

By:

Rao, Angela;
Needleman, Leor;
Lalakea, M Lauren;
Hsu, Emory

Publication type:

Article

A Novel Variant in NR5A1 Presenting as 46,XY Difference of Sex Development.

Published in:

JCEM Case Reports, 2023, v. 1, n. 5, p. 1, doi. 10.1210/jcemcr/luad103

By:

Yu, Yunting;
Lee, Peter A;
Huerta-Saenz, Lina;
Allen, Natalie G

Publication type:

Article

Prenatal genetic diagnosis of monogenic diseases.

Published in:

Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, 2023, v. 4, n. 1, p. 28, doi. 10.1515/almed-2023-0024

By:

Prior-de Castro, Carmen;
Gómez-González, Clara;
Rodríguez-López, Raquel;
Macher, Hada C.

Publication type:

Article

Genetic Testing for Breast and Ovarian Cancer Susceptibility: Evaluating Direct-to-Consumer Marketing -- Atlanta, Denver, Raleigh-Durham, and Seattle, 2003.

Published in:

MMWR: Morbidity & Mortality Weekly Report, 2004, v. 53, n. 27, p. 603

By:

Jacobellis, J.;
Martin, L.;
Engel, J.;
VanEenwyk, J.;
Bradley, L.;
Kassim, S.;
Jorgensen, C.;
Litch, J. A.;
Myers, M. F.

Publication type:

Article

PREVALENCE OF FAMILIAL HYPERCHOLESTEROLEMIA IN ATTICA REGION, GREECE.

Published in:

Health & Research Journal, 2021, v. 7, n. 1, p. 26, doi. 10.12681/healthresj.26096

By:

Pavlatou, Niki;
Rovina, Nikoletta;
Toylia, Georgia;
Kadda, Olga;
Marvaki, Christina;
Kapadochos, Theodore;
Kolovou, Genovefa;
Koutsoukou, Antonia

Publication type:

Article

A rare costovertebral malformation in a Kenyan infant.

Published in:

African Journal of Thoracic & Critcal Care Medicine, 2024, v. 30, n. 1, p. 28, doi. 10.7196/AJTCCM.2024.v30i1.984

By:

Irungu, A.;
Patil, R.;
Awori, M. N.;
Metto, A.

Publication type:

Article

Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles.

Published in:

Turkish Journal of Medical Sciences, 2021, v. 51, n. 2, p. 657, doi. 10.3906/sag-2004-298

By:

TUĞ BOZDOĞAN, Sevcan;
BÜYUKKURT, Selim;
ÖZER, Sinem;
BİŞGİN, Atıl

Publication type:

Article

GENETIC DIAGNOSIS OF THE RUST-RED FLOUR BEETLE TRIBOLIUM CASTANEUM (HERBST) (COLEOPTERA:) AND ITS MORTALITY, ATTRACTION AND REPELLING EFFECT OF SOME VEGETABLE OILS.

Published in:

International Journal of Agricultural & Statistical Sciences, 2021, v. 17, p. 1867

By:

Kalaf, Jinan Malik

Publication type:

Article

Cohesin pathway makes the necessary arrangements.

Published in:

Journal of Cell Biology, 2009, v. 187, n. 4, p. 444, doi. 10.1083/jcb.1874iti1

By:

Short, Ben

Publication type:

Article

Observers' Reactions to Genetic Testing: The Role of Hindsight Bias and Judgments of Responsibility.

Published in:

Journal of Applied Social Psychology, 2000, v. 30, n. 8, p. 1670, doi. 10.1111/j.1559-1816.2000.tb02461.x

By:

Menec, Verena H.;
Weiner, Bernard

Publication type:

Article

Clinical application of whole-exome sequencing analysis in childhood epilepsy.

Published in:

Journal of Neurogenetics, 2024, v. 38, n. 4, p. 187, doi. 10.1080/01677063.2024.2434869

By:

Gavaz, Meral;
Aslan, Elif S.;
Tekeş, Selahattin

Publication type:

Article

Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel.

Published in:

Scientific Data, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41597-019-0339-4

By:

Leung, Marco L.;
Watson, Deborah J.;
Vaccaro, Courtney N.;
Mafra, Fernanda;
Wenocur, Adam;
Wang, Tiancheng;
Hakonarson, Hakon;
Santani, Avni

Publication type:

Article

APPENDIX B: The Last Acceptable Prejudice.

Published in:: Human Life Review, 2008, v. 34, n. 4, p. 118
Publication type:: Article

Confessions of a "Genetic Outlaw".

Published in:

Human Life Review, 2006, v. 32, n. 3/4, p. 139

By:

Schiltz, Elizabeth R.

Publication type:

Article

Current Aspects of Clinical Genetic Diagnosis in Werdnig-Hoffman Spinal Muscular Atrophy.

Published in:

Medicina Moderna, 2015, v. 22, n. 1, p. 47

By:

Corches, Axinia

Publication type:

Article

广州地区育龄人群地中海贫血基因分型及筛查漏检误诊的原因分析.

Published in:

Progress in Modern Biomedicine, 2023, v. 23, n. 17, p. 3247, doi. 10.13241/j.cnki.pmb.2023.17.009

By:

林琪茵;
孔舒;
王鼎;
黎青;
孙筱放;
蔡贞

Publication type:

Article

26 例中国先天性晶状体异位患者的基因诊断及手术初步效果观察.

Published in:

Progress in Modern Biomedicine, 2022, v. 22, n. 15, p. 2846, doi. 10.13241/j.cnki.pmb.2022.15.009

By:

齐梦;
容维宁;
何雷;
刘毅;
史翔宇

Publication type:

Article

PipeMAGI: an integrated and validated workflow for analysis of NGS data for clinical diagnostics.

Published in:

European Review for Medical & Pharmacological Sciences, 2019, v. 23, n. 15, p. 6753

By:

MARCEDDU, G.;
DALLAVILLA, T.;
GUERRI, G.;
MANARA, E.;
CHIURAZZI, P.;
BERTELLI, M.

Publication type:

Article

Fetal Intra‐pericardial Morgagni Hernia with effusion affecting one member of a twin gestation.

Published in:

Echocardiography, 2019, v. 36, n. 5, p. 1014, doi. 10.1111/echo.14329

By:

Abutaqa, Mohammed;
Tayeh, Christelle;
Bitar, Fadi;
Arabi, Mariam;
Charafeddine, Fatme

Publication type:

Article

Model Organisms: Nature's Gift to Disease Research.

Published in:

Genetics, 2020, v. 214, n. 2, p. 233, doi. 10.1534/genetics.120.303050

By:

Johnston, Mark

Publication type:

Article

Newborn screening in the genomics era.

Published in:

Journal of Law & the Biosciences, 2014, v. 1, n. 3, p. 369, doi. 10.1093/jlb/lsu027

By:

Rego, Shannon

Publication type:

Article