Works matching DE "GENETIC testing"

Results: 5000

Limiting surveillance in individuals with the Palestinian TP53 p. R181C founder variant—is it too soon to draw conclusions?

Published in:

JNCI: Journal of the National Cancer Institute, 2025, v. 117, n. 5, p. 819, doi. 10.1093/jnci/djaf009

By:

Omran, Meis;
Malkin, David

Publication type:

Article

TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers.

Published in:

JNCI: Journal of the National Cancer Institute, 2025, v. 117, n. 5, p. 1069, doi. 10.1093/jnci/djae334

By:

Lolas-Hamameh, Suhair;
Lieberman, Sari;
Sarahneh, Alaa;
Walsh, Tom;
Lee, Ming K;
Gulsuner, Suleyman;
Rabie, Grace;
Beeri, Rachel;
Aburayyan, Amal;
Mandell, Jessica B;
Fridman, Hila;
Lazer-Derbeko, Galit;
Klopstock, Tehila;
Freireich, Orit;
Lahad, Amnon;
King, Mary-Claire;
Levy-Lahad, Ephrat;
Kanaan, Moien N

Publication type:

Article

Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03732-1

By:

Al Khudari, Rawan;
Baqla, Sameer;
Al Asmar, Diana

Publication type:

Article

Wavering on Branches of a Decision Tree.

Published in:

AMA Journal of Ethics, 2025, v. 27, n. 5, p. 382, doi. 10.1001/amajethics.2025.382

By:

Barnhardt, Lio

Publication type:

Article

Proposing GLMN, encoding glomulin, as a novel gene for Dowling–Degos disease.

Published in:

British Journal of Dermatology, 2025, v. 192, n. 5, p. 954, doi. 10.1093/bjd/ljae418

By:

Kumar, Sheetal;
Betz, Regina C;
Frank, Jorge

Publication type:

Article

Alpha-1 Antitrypsin Deficiency Screening Using Serum Protein Electrophoresis.

Published in:

Respiratory Care, 2025, v. 70, n. 5, p. 551, doi. 10.1089/respcare.12524

By:

Perales-Afán, Juan José;
Menao, Sebastián;
García-Gutiérrez, Almudena;
García-Zafra, Laura;
del Castillo-Díez, Enrique;
Torralba-Cabeza, Miguel Ángel

Publication type:

Article

Isolated Urticarial Rash in the Clinical Spectrum of HA20.

Published in:

Journal of Rheumatology, 2025, v. 52, n. 5, p. 520, doi. 10.3899/jrheum.2024-1134

By:

Mastrolia, Maria Vincenza;
Duan, Lucy;
Pennal, Alexandra;
Laxer, Ronald M.;
Dissanayake, Dilan

Publication type:

Article

Extreme Sinus Bradycardia in a 36‐Week Neonate Caused by De Novo Short QT Syndrome: A Case Report.

Published in:

Journal of Paediatrics & Child Health, 2025, v. 61, n. 5, p. 806, doi. 10.1111/jpc.70026

By:

Minto, Nicole;
Tong, James

Publication type:

Article

Early‐onset muscle weakness syndrome (MW) in an Australian Holstein calf.

Published in:

Australian Veterinary Journal, 2025, v. 103, n. 5, p. 298, doi. 10.1111/avj.13431

By:

Ciacia, MG;
Phipps, AJ

Publication type:

Article

Sideroblastic anemia in children: challenges in diagnosis and management in three cases.

Published in:

Annals of Hematology, 2025, v. 104, n. 4, p. 2537, doi. 10.1007/s00277-025-06266-5

By:

Rekaya, Samia;
Ben Fraj, Ilhem;
Hamdi, Rym;
Ben Taieb, Aicha;
Merdassi, Amani;
Jouini, Hamida;
Zarrouk, Hajer;
Zaiter, Ikram;
Kouki, Ridha;
Bejaoui, Mohamed;
Mellouli, Fethi;
Ben Khaled, Monia;
Ouederni, Monia

Publication type:

Article

Genetic diseases.

Published in:: Clinical Chemistry & Laboratory Medicine, 2025, v. 63, n. 1, p. s1285, doi. 10.1515/cclm-2025-8047
Publication type:: Article

Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03679-3

By:

Giugliani, Roberto;
Solomon, Faryn;
Kushlaf, Hani;
Wright, Erica;
Haselkorn, Tmirah;
Zanoteli, Edmar;
Schoser, Benedikt

Publication type:

Article

Homozygous familial hypercholesterolemia with xanthomas and a recurrent mutation.

Published in:

Indian Journal of Dermatology, Venereology & Leprology, 2025, v. 91, p. 1, doi. 10.25259/IJDVL_980_2023

By:

Raman, Tamanna;
Imran, Mohamed;
Agarwal, Mohak;
Singh, Shrishti;
Bhoyar, Rahul C;
Gupta, Aayush;
Scaria, Vinod

Publication type:

Article

Babies screened for more genetic disorders.

Published in:: Lamp (0047-3936), 2015, v. 72, n. 1, p. 11
Publication type:: Article

Genetic Screening and Methylation Support During Pregnancy for Prevention of Preeclampsia.

Published in:

Nutritional Perspectives: Journal of the Council on Nutrition, 2020, v. 43, n. 3, p. 5

By:

Whitfield, Paige M.

Publication type:

Article

Case History Corner.

Published in:

Nutritional Perspectives: Journal of the Council on Nutrition, 2019, v. 42, n. 1, p. 24

By:

Prahl, Valorie J.

Publication type:

Article

Natural Treatments for Autoimmune Diseases.

Published in:

Nutritional Perspectives: Journal of the Council on Nutrition, 2013, v. 36, n. 2, p. 28

By:

Jurgelewicz, Michael

Publication type:

Article

The ethical protection of genetic information: procedure analysis for psychologists.

Published in:

Clinical Psychologist, 2022, v. 26, n. 1, p. 1, doi. 10.1080/13284207.2021.1985376

By:

Allen, Kelly-Ann;
McInerney-Leo, Aideen M;
Gamble, Nicholas;
Wurf, Gerald;
Boyle, Christopher

Publication type:

Article

Global economic costs due to vivax malaria and the potential impact of its radical cure: A modelling study.

Published in:

2021

By:

Devine, Angela;
Battle, Katherine E.;
Meagher, Niamh;
Howes, Rosalind E.;
Dini, Saber;
Gething, Peter W.;
Simpson, Julie A.;
Price, Ric N.;
Lubell, Yoel

Publication type:

journal article

The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study.

Published in:

2020

By:

Ryan, Neil A. J.;
McMahon, Raymond;
Tobi, Simon;
Snowsill, Tristan;
Esquibel, Shona;
Wallace, Andrew J.;
Bunstone, Sancha;
Bowers, Naomi;
Mosneag, Ioana E.;
Kitson, Sarah J.;
O'Flynn, Helena;
Ramchander, Neal C.;
Sivalingam, Vanitha N.;
Frayling, Ian M.;
Bolton, James;
McVey, Rhona J.;
Evans, D. Gareth;
Crosbie, Emma J.

Publication type:

journal article

The Rise of Genetic Genealogy, and the Need for Social Work's Voice.

Published in:

Social Work, 2021, v. 66, n. 3, p. 272, doi. 10.1093/sw/swab018

By:

Landers, Jillian;
Parrish, Danielle E

Publication type:

Article

Eugenics, Genetics, and the Minority Group Model of Disabilities: Implications for Social Work Advocacy.

Published in:

Social Work, 2011, v. 56, n. 4, p. 347, doi. 10.1093/sw/56.4.347

By:

O'Brien, Gerald V.

Publication type:

Article

Dihydrostreptomycin Directly Binds to, Modulates, and Passes through the MscL Channel Pore.

Published in:

PLoS Biology, 2016, v. 14, n. 6, p. 1, doi. 10.1371/journal.pbio.1002473

By:

Wray, Robin;
Iscla, Irene;
Gao, Ya;
Li, Hua;
Wang, Junmei;
Blount, Paul

Publication type:

Article

High-Throughput Genetic Screens Identify a Large and Diverse Collection of New Sporulation Genes in Bacillus subtilis.

Published in:

PLoS Biology, 2016, v. 14, n. 1, p. 1, doi. 10.1371/journal.pbio.1002341

By:

Meeske, Alexander J.;
Rodrigues, Christopher D. A.;
Brady, Jacqueline;
Lim, Hoong Chuin;
Bernhardt, Thomas G.;
Rudner, David Z.

Publication type:

Article

The Actress, the Court, and What Needs to Be Done to Guarantee the Future of Clinical Genomics.

Published in:

2013

By:

Caplan, Arthur L.

Publication type:

Opinion

Histones Are Passed Back to Stay in Place, More or Less.

Published in:

PLoS Biology, 2011, v. 9, n. 6, p. 1, doi. 10.1371/journal.pbio.1001072

By:

Robinson, Richard

Publication type:

Article

Genetic Method.

Published in:

Review of Educational Research, 1939, v. 9, n. 5, p. 491, doi. 10.2307/1167748

By:

Jensen, Kai

Publication type:

Article

The Italian Preadolescent Mental Health Project (PrISMA): rationale and methods.

Published in:

International Journal of Methods in Psychiatric Research, 2006, v. 15, n. 1, p. 22, doi. 10.1002/mpr.25

By:

Frigerio, Alessandra;
Vanzin, Laura;
Pastore, Valentina;
Nobile, Maria;
Giorda, Roberto;
Marino, Cecilia;
Molteni, Massimo;
Rucci, Paola;
Ammaniti, Massimo;
Lucarelli, Loredana;
Lenti, Carlo;
Walder, Mauro;
Martinuzzi, Andrea;
Carlet, Ombretta;
Muratori, Filippo;
Milone, Annarita;
Zuddas, Alessandro;
Cavolina, Pina;
Nardocci, Franco;
Tullini, Andrea

Publication type:

Article

Feasibility of using pharmacogenetic testing with Clinical Decision Support System in private GP clinics in Singapore.

Published in:: Annals of Family Medicine, 2022, v. 20, p. 238
Publication type:: Article

Doctor-patient communication about blood tests: qualitative interview study in general practice.

Published in:: Annals of Family Medicine, 2022, v. 20, p. 186
Publication type:: Article

Practice continuity of care and quality of preventive services.

Published in:: Annals of Family Medicine, 2022, v. 20, p. 6
Publication type:: Article

A Multidisciplinary Precision Medicine Service in Primary Care.

Published in:

2022

By:

Massart, Mylynda;
Berenbrok, Lucas A.;
Munro, Christine;
Berman, Natasha Robin;
Empey, Philip E.

Publication type:

journal article

Breast cancer genetics and risk assessment: an overview for the clinician.

Published in:

Climacteric, 2023, v. 26, n. 3, p. 229, doi. 10.1080/13697137.2023.2184254

By:

Larkin, L.

Publication type:

Article

Premature ovarian insufficiency – the need for a genomic map.

Published in:

Climacteric, 2021, v. 24, n. 5, p. 444, doi. 10.1080/13697137.2021.1945025

By:

Cloke, B.;
Rymer, J.

Publication type:

Article

A sporadic case of Creutzfeldt- Jakob disease showing unilateral hemispheric involvement on magnetic resonance imaging.

Published in:

Psychogeriatrics, 2017, v. 17, n. 6, p. 517, doi. 10.1111/psyg.12272

By:

Hirao, Kentaro;
Hirose, Daisuke;
Fukasawa, Raita;
Takata, Yusuke;
Shimizu, Soichiro;
Kanetaka, Hidekazu;
Umahara, Takahiko;
Sakurai, Hirofumi;
Hanyu, Haruo

Publication type:

Article

Co-occurring frontal variant Alzheimer's dementia and carrier of Huntington's disease allele with reduced penetrance.

Published in:

Psychogeriatrics, 2017, v. 17, n. 6, p. 488, doi. 10.1111/psyg.12246

By:

Rawtaer, Iris;
Krishnamoorthy, Ashok

Publication type:

Article

Willingness to pay for expanded non‐invasive prenatal screening – An online discrete choice experiment from the perspective of women living in Western Australia.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2025, v. 65, n. 1, p. 55, doi. 10.1111/ajo.13858

By:

Long, Sarah;
O'Leary, Peter;
Norman, Richard;
Dickinson, Jan E.

Publication type:

Article

Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2024, v. 64, n. 5, p. 467, doi. 10.1111/ajo.13814

By:

Rogers, Alice;
De Jong, Lucas;
Waters, Wendy;
Rawlings, Lesley H.;
Simons, Keryn;
Gao, Song;
Soubrier, Julien;
Kenyon, Rosalie;
Lin, Ming;
King, Rob;
Lawrence, David M.;
Muller, Peter;
Leblanc, Shannon;
McGregor, Lesley;
Sallevelt, Suzanne C. E. H.;
Liebelt, Jan;
Hardy, Tristan S. E.;
Fletcher, Janice M.;
Scott, Hamish S.;
Kulkarni, Abhi

Publication type:

Article

Clinical utility of maternal TORCH screening in fetal growth restriction: A retrospective two‐centre study.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2024, v. 64, n. 4, p. 354, doi. 10.1111/ajo.13802

By:

Wade, Christine A.;
Atkinson, Naomi;
Holmes, Natasha E.;
Hui, Lisa

Publication type:

Article

Familial hypercholesterolaemia in pregnancy: Australian case series and review.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2023, v. 63, n. 3, p. 402, doi. 10.1111/ajo.13657

By:

Nangrahary, Mary;
Graham, Dorothy F.;
Pang, Jing;
Barnett, Wendy;
Watts, Gerald F.

Publication type:

Article

Mainstream genetic testing for high‐grade ovarian, tubal and peritoneal cancers: A tertiary referral centre experience.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2023, v. 63, n. 2, p. 241, doi. 10.1111/ajo.13650

By:

Srinivasa, Shweta;
Bowman, Michelle;
Titterton, Leanna;
Harnett, Paul;
Brand, Alison;
Kirk, Judy;
Ragunathan, Abiramy

Publication type:

Article

Clinician views and experiences of non‐invasive prenatal genetic screening tests in Australia.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2022, v. 62, n. 6, p. 830, doi. 10.1111/ajo.13533

By:

McKinn, Shannon;
Javid, Nasrin;
Newson, Ainsley J.;
Freeman, Lucinda;
Bonner, Carissa;
Shand, Antonia W.;
Nassar, Natasha;
Bell, Katy J.L.

Publication type:

Article

Effectiveness of alternative prenatal genetic counselling methods in a cohort of pregnant women from a low socio‐economic population.

Published in:: Australian & New Zealand Journal of Obstetrics & Gynaecology, 2022, v. 62, n. 5, p. 674, doi. 10.1111/ajo.13522
Publication type:: Article

Website advertising of IVF add‐ons: Does PGT‐A live up to its billing?

Published in:

2021

By:

Homer, Hayden Anthony

Publication type:

Editorial

IVF add‐ons in Australia and New Zealand: A systematic assessment of IVF clinic websites.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2021, v. 61, n. 3, p. 430, doi. 10.1111/ajo.13321

By:

Lensen, Sarah;
Chen, Sheng;
Goodman, Lucy;
Rombauts, Luk;
Farquhar, Cindy;
Hammarberg, Karin

Publication type:

Article

Factors influencing medical practitioner participation in population carrier screening for cystic fibrosis.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2021, v. 61, n. 2, p. 232, doi. 10.1111/ajo.13264

By:

Valente, Giulia M.;
Amor, David J.;
Ioannou, Liane J.;
Archibald, Alison D.

Publication type:

Article

Socioeconomic status and uptake of reproductive carrier screening in Australia.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2020, v. 60, n. 6, p. 976, doi. 10.1111/ajo.13206

By:

Robson, Stephen J.;
Caramins, Melody;
Saad, Mirette;
Suthers, Graeme

Publication type:

Article

'Small cost to pay for peace of mind': Women's experiences with non‐invasive prenatal testing.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2019, v. 59, n. 5, p. 649, doi. 10.1111/ajo.12945

By:

Bowman‐Smart, Hilary;
Savulescu, Julian;
Mand, Cara;
Gyngell, Christopher;
Pertile, Mark D.;
Lewis, Sharon;
Delatycki, Martin B.

Publication type:

Article

Referral patterns for genetic counselling of women diagnosed with tubo‐ovarian or peritoneal high‐grade serous carcinoma (HGSC) within the Auckland Gynaecological Oncology Centre.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2019, v. 59, n. 3, p. 444, doi. 10.1111/ajo.12964

By:

Burling, Michael J;
Gamet, Kimberly;
Eva, Lois;
Tan, Ai Ling

Publication type:

Article

Preimplantation genetic testing for aneuploidy (PGT‐A): The biology, the technology and the clinical outcomes.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2019, v. 59, n. 2, p. 317, doi. 10.1111/ajo.12960

By:

Homer, Hayden Anthony

Publication type:

Article