Works matching DE "GENETIC testing"

Results: 5000

Hemoglobinopathy Proficiency Testing: Comment.

Published in:

Archives of Pathology & Laboratory Medicine, 2025, v. 149, n. 8, p. 696, doi. 10.5858/arpa.2025-0024-LE

By:

Daungsupawong, Hinpetch;
Wiwanitkit, Viroj

Publication type:

Article

Adult‐Onset Gitelman Syndrome: Case Analysis and Literature Review.

Published in:

Case Reports in Medicine, 2025, v. 2025, p. 1, doi. 10.1155/carm/2647228

By:

Haddiya, Intissar;
Ramdani, Sara;
Kadi, Aymane;
Machmachi, Imane;
Benabdelhak, Mohammed;
Bentata, Yassamine;
Jha, Poulami

Publication type:

Article

Follow-up multimodal changes on PET/MRI in fatal familial insomnia patient: a case report.

Published in:

BMC Neurology, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12883-025-04315-0

By:

Chen, Zhigeng;
Wu, Liyong;
Yan, Shaozhen;
Lu, Jie

Publication type:

Article

Spectrum of PAH gene variants in Jordanian patients with phenylalanine hydroxylase deficiency.

Published in:

Biomedical Reports, 2025, v. 23, n. 3, p. N.PAG, doi. 10.3892/br.2025.2029

By:

Fathallah, Rajaa;
Al-Rashed, Khadeeja;
Arafat, Alaa;
Awwad, Hanan;
Maraqa, Latifa;
El-Khateeb, Mohammed;
Shboul, Mohammad

Publication type:

Article

Effective Treatment of Janus Kinase 1/3 Inhibitor in Blau Syndrome From a Multicenter Retrospective Study in Central China.

Published in:

Journal of Rheumatology, 2025, v. 52, n. 8, p. 810, doi. 10.3899/jrheum.2024-0822

By:

Yangyang Hu;
Pengcheng Li;
Jinhua Liu;
Zhipeng Zeng;
Xiong Zhang;
Wen Yin;
Hai Xu;
Jing Cai;
Yikai Yu

Publication type:

Article

Topology of WFS1 Variants Linked With Islet Function and Higher Risk of Urological Symptoms in WFS1‐Associated Disease.

Published in:

Pediatric Diabetes, 2025, v. 2025, p. 1, doi. 10.1155/pedi/9955995

By:

Zhang, Juan-juan;
Dai, Tong-tong;
Wang, Jun-qi;
Yin, Ming-yue;
Yang, Yuan-yan;
Jiang, Li;
Xia, Bei-jun;
Cui, Zhuo-zhou;
Lu, Wen-li;
Hu, Rong-gui;
Li, Chuan-yin;
Dong, Zhi-ya;
Xiao, Yuan;
Hamza, Rasha

Publication type:

Article

Case Report: A rare chromosomal imbalance with dup 7q36.3-qter and del 7pter-p22.3 arising from parental pericentric inversion.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1564711

By:

Lin, Rongbo;
Zhang, Wenhui;
Huang, Mingwei;
Shen, Yansheng;
Liao, Jianxiang;
Song, Ping;
Qi, Ying;
He, Jie;
Xia, Yuanxiang;
Duan, Jing;
Ye, Yuanzhen;
Yi, Qiuwei;
Lan, Pei;
Kong, Lingyu;
Hu, Zhanqi

Publication type:

Article

Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand.

Published in:

Journal of the Royal Society of New Zealand, 2025, v. 55, n. 6, p. 2464, doi. 10.1080/03036758.2024.2394128

By:

Musgrave, Suzanne M.;
Taylor, Juliet;
Whitford, Whitney;
Garton, Alexandra;
Poquérusse, Jessie;
Hawkins, Victoria;
Port, Waiora;
Moodley, Kriebashne S.;
Monk, Ruth;
Knowles, Sarah D.;
Walker, Caroline;
Samson, Christopher;
Velzian, Lydia;
Swan, Brendan;
Love, Donald R.;
Hill, Rosamund;
Muir, Colette;
Talkowski, Michael E.;
Lowther, Chelsea;
Snell, Russell G.

Publication type:

Article

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation associated with KIF11 pathogenic variant: case report and genotype-phenotype correlation analysis.

Published in:

BMC Ophthalmology, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12886-025-04261-y

By:

Peng, Jiajia;
Xie, Yan;
Wang, Hui;
Huang, Lijuan;
Yang, Yangfan;
Li, Ningdong

Publication type:

Article

Sudden Blast Crisis in a Chronic Myeloid Leukemia Patient in Treatment-Free Remission: A Case Report and Literature Review.

Published in:

Acta Haematologica, 2025, v. 148, n. 4, p. 371, doi. 10.1159/000542153

By:

Liang, Qiushi;
Liu, Zhigang;
Wu, Yu;
Zhu, Huanling;
Yang, Yunfan

Publication type:

Article

A Case of Distal Hereditary Motor Neuropathy with HSPB1 Mutation in Coexistence with Myotonia and Myopathy.

Published in:

Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2025, v. 62, n. 2, p. 205, doi. 10.29399/npa.28654

By:

UZU NÇAKMAK- UYANIK, Handan;
TAN, Ersin;
TEMUÇİN, Çağrı Mesut

Publication type:

Article

Enfermedad inflamatoria intestinal de inicio muy temprano refractaria a terapia anti-TNF.

Published in:

Revista Colombiana de Gastroenterología, 2025, v. 40, n. 2, p. 200, doi. 10.22516/25007440.1213

By:

Vergara-Espitia, Angie Vanessa;
Sánchez, Diana Paola

Publication type:

Article

„Doktornő, látszik már, hogy mi lesz?”.

Published in:

Magyar Nőorvosok Lapja, 2025, v. 88, n. 4, p. 203

By:

Zsuzsanna, Dóka;
Éva, Szövördi;
László, Farkas

Publication type:

Article

SMARCB1 基因新发突变致 Coffin-Siris 综合征3型2例.

Published in:

Chinese Journal of Contemporary Pediatrics, 2025, v. 27, n. 7, p. 870, doi. 10.7499/j.issn.1008-8830.2501013

By:

金颖;
李梦秋;
杨艳玲

Publication type:

Article

染色体 19p13.3微缺失导致心-面-皮肤综合征 1例并文献复习.

Published in:

Chinese Journal of Contemporary Pediatrics, 2025, v. 27, n. 7, p. 854, doi. 10.7499/j.issn.1008-8830.2502003

By:

李翠云;
徐颖;
姚如恩;
于英;
陈雪亭;
李崴;
曾慧;
陈丽婷

Publication type:

Article

Comprehensive Review of Clinically Relevant Drug-Gene Interactions in Pharmacy Practice: A UKBB Data Guide for Providers.

Published in:

Pharmacy Practice (1886-3655), 2025, v. 23, n. 2, p. 1, doi. 10.18549/PharmPract.2025.2.3185

By:

Malki, Mustafa Adnan

Publication type:

Article

Clinical and cost-effectiveness of pharmacogenomic testing for anthracycline-induced cardiotoxicity in childhood cancer: a systematic review and meta-analysis.

Published in:

Frontiers in Pharmacology, 2025, p. 1, doi. 10.3389/fphar.2025.1568320

By:

Wong, Ling Yin Fritz;
Sutcliffe, Alastair G.;
Ho, Carmen Lok Tung;
Lu, Yan;
Williams, Carrie L.;
Afzal, Faiza;
Purkayastha, Mitana

Publication type:

Article

Clinical manifestations of Johanson-Blizzard syndrome in a patient with nucleotide variants in the UBR1 gene.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2023, v. 88, n. 10, p. 885, doi. 10.2298/VSP220803003J

By:

Jojkić-Pavkov, Danijela;
Tošić, Jela;
Kavečan, Ivana;
Plazačić, Milica

Publication type:

Article

The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2023, v. 80, n. 3, p. 201, doi. 10.2298/VSP190208030M

By:

Maksić, Jasmina;
Maksimović, Nela;
Rasulić, Lukas;
Milankov, Olgica;
Marjanović, Ana;
Cvetković, Dragana;
Stojanović, Vidosava Rakočević;
Novaković, Ivana

Publication type:

Article

Birth of a healthy child fathered by a man with Klinefelter's syndrome after preimplantation genetic testing.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2021, v. 78, n. 8, p. 896, doi. 10.2298/VSP190715138T

By:

Trninić-Pjević, Aleksandra;
Milatović, Stevan;
Havrljenko, Jelena;
Kavecan, Ivana;
Kopitović, Aleksandar

Publication type:

Article

GLUT1 deficiency syndrome: a case report with a novel SLC2A1 mutation.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2019, v. 76, n. 5, p. 543, doi. 10.2298/VSP170406120I

By:

Ivančević, Nikola;
Cerovac, Nataša;
Nikolić, Blažo;
Čuturilo, Goran;
Marjanović, Ana;
Branković, Marija;
Novaković, Ivana

Publication type:

Article

Hereditary hemorrhagic telangiectasia associated with inherited thrombophilia.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2017, v. 74, n. 5, p. 489, doi. 10.2298/VSP150601105R

By:

Roganović, Branka;
Obradović, Slobodan;
Micić, Aleksandar;
Petrović, Stanko

Publication type:

Article

Definitive diagnosis of malignant hyperthermia susceptibility by genetic testing: A case report.

Published in:

Pediatric Anesthesia, 2023, v. 33, n. 10, p. 868, doi. 10.1111/pan.14714

By:

Basile, Ellen;
McGrath, Kayla;
Jones, Kareen;
Apostolov, Boyan D.;
Kahana, Madelyn

Publication type:

Article

Perioperative evaluation of direct‐to‐consumer genetic testing results.

Published in:

Pediatric Anesthesia, 2021, v. 31, n. 5, p. 619, doi. 10.1111/pan.14149

By:

Eklund, Susan E.;
Polaner, David

Publication type:

Article

Medical alert tattoos—A pinch of style along with patient safety.

Published in:

2018

By:

Lai, Emily A.;
Nesrsta, Eric A.;
Bodiford, Jason M.;
Jain, Ranu R.

Publication type:

Case Study

Computational Screening of Disease-Associated Mutations in OCA2 Gene.

Published in:

Cell Biochemistry & Biophysics, 2014, v. 68, n. 1, p. 97, doi. 10.1007/s12013-013-9697-2

By:

Kamaraj, Balu;
Purohit, Rituraj

Publication type:

Article

Loss of the abasic site sensor HMCES is synthetic lethal with the activity of the APOBEC3A cytosine deaminase in cancer cells.

Published in:

PLoS Biology, 2021, v. 19, n. 3, p. 1, doi. 10.1371/journal.pbio.3001176

By:

Biayna, Josep;
Garcia-Cao, Isabel;
Álvarez, Miguel M.;
Salvadores, Marina;
Espinosa-Carrasco, Jose;
McCullough, Marcel;
Supek, Fran;
Stracker, Travis H.

Publication type:

Article

An evolutionarily diverged mitochondrial protein controls biofilm growth and virulence in Candida albicans.

Published in:

PLoS Biology, 2021, p. 1, doi. 10.1371/journal.pbio.3000957

By:

Mamouei, Zeinab;
Singh, Shakti;
Lemire, Bernard;
Gu, Yiyou;
Alqarihi, Abdullah;
Nabeela, Sunna;
Li, Dongmei;
Ibrahim, Ashraf;
Uppuluri, Priya

Publication type:

Article

Prenatal Genetic Diagnosis of Fetal Cystic Hygroma: A Retrospective Single-Center Study from China.

Published in:

Cytogenetic & Genome Research, 2022, v. 162, n. 7, p. 354, doi. 10.1159/000528600

By:

Zhou, Yulin;
Lu, Xingxiu;
Zhang, Yanhong;
Ge, Yunsheng;
Xu, Yasong;
Wu, Lili;
Jiang, Yu

Publication type:

Article

The Effectiveness of Next-Generation Sequencing-Based Preimplantation Genetic Testing for Balanced Translocation Couples.

Published in:

Cytogenetic & Genome Research, 2020, v. 160, n. 11/12, p. 625, doi. 10.1159/000512847

By:

Hongfang Liu;
Bin Mao;
Xiaojuan Xu;
Lin Liu;
Xiaoling Ma;
Xuehong Zhang

Publication type:

Article

De novo Unbalanced 1;22 Translocation with 22q11 Deletion Syndrome.

Published in:

Cytogenetic & Genome Research, 2019, v. 157, n. 4, p. 32, doi. 10.1159/000497173

By:

Vittas, Spiros;
Efstathiou, George;
Tsakalidis, Christos;
Malamaki, Christina;
antari, Vasiliki;
Chatzitoliou, Efthymia;
Chatziioannidis, Ilias;
Galli-Tsinopoulou, assimina;
Soubasi, Vasiliki

Publication type:

Article

Clinical, Hormonal, and Genetic Evaluation of Idiopathic Nonobstructive Azoospermia and Klinefelter Syndrome Patients.

Published in:

Cytogenetic & Genome Research, 2018, v. 153, n. 4, p. 190, doi. 10.1159/000487039

By:

Kim, Shin Y.;
Lee, Bom Y.;
Oh, Ah R.;
Park, So Y.;
Lee, Hyo S.;
Seo, Ju T.

Publication type:

Article

An International Genetic Survey of Breed-Specific Diseases in Working Dogs from the United States, Israel, and Poland.

Published in:

Cytogenetic & Genome Research, 2018, v. 153, n. 4, p. 198, doi. 10.1159/000486774

By:

Shaffer, Lisa G.;
Ramirez, Christina J.;
Phelps, Patricia;
Aviram, Maya;
Walczak, Marta;
Bar-Gal, Gila Kahila;
Ballif, Blake C.

Publication type:

Article

Perinatal Genetic Screening From the Perspective of India-Born Individuals and Healthcare Providers in Victoria, Australia: A Community-Engaged Grounded Theory Protocol.

Published in:

International Journal of Qualitative Methods, 2025, p. 1, doi. 10.1177/16094069251316998

By:

Kanga-Parabia, Anaita;
Biggs, Laura J.;
Dawson-McClaren, Belinda;
Lewis, Sharon;
Pangli, Karamdeep K.;
Archibald, Alison D.

Publication type:

Article

'Screening should not be based on ability to pay': Australian healthcare providers' and consumers' perspectives on public funding for non‐invasive prenatal testing.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2025, v. 65, n. 3, p. 409, doi. 10.1111/ajo.13915

By:

Pynaker, Cecilia;
Johnston, Molly;
Mills, Catherine;
Vasey, Katie;
Taylor‐Sands, Michelle;
Bowman‐Smart, Hilary;
Hui, Lisa

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

The interval transfer of a frozen‐thawed embryo is more successful than a fresh embryo transfer for women undergoing IVF with recurrent implantation failure after cleavage stage embryo biopsy.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2019, v. 59, n. 1, p. 134, doi. 10.1111/ajo.12798

By:

Pontré, Jennifer C.;
Ryan, John P.;
Tan, Andy;
Hart, Roger J.

Publication type:

Article