Works matching IS 00099163 AND DT 2024 AND VI 105 AND IP 2

Results: 16

Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 228, doi. 10.1111/cge.14448

By:

Ooi, Joshua Chin Ern;
Azman, Amelia;
Chan, Mei‐Yan;
Toh, Emilia Sheau Yuin;
Seo, Go Hun;
Kim, Ji Hye;
Yakob, Yusnita;
Chia, Yuen Kang

Publication type:

Article

Gene mutations as predictors of central lymph mode metastasis in cN0 PTC: A meta‐analysis.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 130, doi. 10.1111/cge.14456

By:

Ji, Jiaqi;
Shi, Xinlong

Publication type:

Article

Association between genetic variants of transmembrane transporters and susceptibility to anthracycline‐induced cardiotoxicity: Current understanding and existing evidence.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 115, doi. 10.1111/cge.14452

By:

Ni, Ming‐Ming;
Yang, Ju‐Fei;
Miao, Jing;
Xu, Jin

Publication type:

Article

A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 220, doi. 10.1111/cge.14450

By:

Kherraf, Zine‐Eddine;
Barbotin, Anne‐Laure;
Martinez, Guillaume;
Mazet, Aurélien;
Cazin, Caroline;
Coutton, Charles;
Arnoult, Christophe;
Thierry‐Mieg, Nicolas;
Rives, Nathalie;
Rives‐Feraille, Aurélie;
Ray, Pierre F.

Publication type:

Article

De novo enhancer deletion of LMX1B produces a mild nail‐patella clinical phenotype.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 214, doi. 10.1111/cge.14447

By:

Francis, David;
Lall, Paula;
Ayres, Samantha;
Van Bergen, Nicole J.;
Christodoulou, John;
Brown, Natasha J.;
Kalitsis, Paul

Publication type:

Article

Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 173, doi. 10.1111/cge.14445

By:

Sahajpal, Nikhil;
Ziats, Catherine;
Chaubey, Alka;
DuPont, Barbara R.;
Abidi, Fatima;
Schwartz, Charles E.;
Stevenson, Roger E.

Publication type:

Article

Rigorous evaluation of genetic and epigenetic effects on clinical laboratory measurements using Japanese monozygotic twins.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 159, doi. 10.1111/cge.14443

By:

Taniguchi, Jumpei;
Masuda, Tatsuo;
Iwatani, Yoshinori;
Yamamoto, Kenichi;
Takahashi, Masanori;
Nishio, Teiji;
Kamide, Kei;
Kihara, Shinji;
Watanabe, Hiroko;
Sakata, Dousatsu;
Sakai, Norio;
Okada, Yukinori;
Watanabe, Mikio

Publication type:

Article

Perspectives of carriers of X‐linked retinal diseases on genetic testing and gene therapy: A global survey.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 150, doi. 10.1111/cge.14442

By:

Gocuk, Sena A.;
Edwards, Thomas L.;
Jolly, Jasleen K.;
Ayton, Lauren N.

Publication type:

Article

The third case of Marbach‐Rustad progeroid syndrome caused by a de novo LEMD2 variant.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 209, doi. 10.1111/cge.14441

By:

Lu, Zhikun;
Zhang, Wen;
Mao, Xiaojian;
Li, Duan;
Chen, Xiaodan;
Liu, Li;
Lin, Yunting

Publication type:

Article

Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 140, doi. 10.1111/cge.14440

By:

Parra, Alejandro;
Pascual, Patricia;
Cazalla, Mario;
Arias, Pedro;
Gallego‐Zazo, Natalia;
San‐Martín, Esteban A.;
Silván, Cristina;
Santos‐Simarro, Fernando;
Plasencia, Antonio;
Rosa, Alberto L.;
Blanquer, Aleixandre;
Garcı'a‐Alix, Alfredo;
Santana, Alfredo;
Delicado, Alicia;
Alonso, Almudena;
Rodriguez, Amaya;
Sanchis, Amparo;
Moreno, Ana;
Gar‐cía, Ana Patiño;
Vega, Ana

Publication type:

Article

A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 202, doi. 10.1111/cge.14439

By:

Mehawej, Cybel;
Ibrahim, Maroun;
Khalife, Lynn;
Chouery, Eliane;
El Hachem, Setrida;
Sayad, Alain;
El Traboulsi, Aya;
Inati, Adlette;
Megarbane, Andre

Publication type:

Article

Adding to the evidence of gene‐disease association of RAP1B and syndromic thrombocytopenia.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 196, doi. 10.1111/cge.14438

By:

Pardo, Luba M.;
Aanicai, Ruxandra;
Zonic, Emir;
Hakonen, Anna H.;
Zielske, Susan;
Bauer, Peter;
Bertoli‐Avella, Aida M.

Publication type:

Article

Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 226, doi. 10.1111/cge.14431

By:

Tiwari, Amit K.;
Srinivasan, Varunvenkat M.;
Phadke, Shubha R.;
Saxena, Deepti

Publication type:

Article

A novel non‐recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 190, doi. 10.1111/cge.14428

By:

Bzdęga, Katarzyna;
Biela, Mateusz;
Deutsch, Gail H.;
Kitzmiller, Joseph A.;
Rydzanicz, Małgorzata;
Płoski, Rafał;
Whitsett, Jeffrey A.;
Śmigiel, Robert;
Karolak, Justyna A.

Publication type:

Article

DNA‐pools targeted‐sequencing as a robust cost‐effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosis.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 185, doi. 10.1111/cge.14427

By:

Perret, Claire;
Proust, Carole;
Esslinger, Ulrike;
Ader, Flavie;
Haas, Jan;
Pruny, Jean‐François;
Isnard, Richard;
Richard, Pascale;
Trégouët, David‐Alexandre;
Charron, Philippe;
Cambien, François;
Villard, Eric

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2024, v. 105, n. 2, p. 113, doi. 10.1111/cge.14367
Publication type:: Article