Works matching IS 00099163 AND DT 2024 AND VI 105 AND IP 3

Results: 16

CCDC65, encoding a component of the axonemal Nexin‐Dynein regulatory complex, is required for sperm flagellum structure in humans.

Published in:

Clinical Genetics, 2024, v. 105, n. 3, p. 317, doi. 10.1111/cge.14459

By:

Jreijiri, Fadwa;
Cavarocchi, Emma;
Amiri‐Yekta, Amir;
Cazin, Caroline;
Hosseini, Seyedeh‐Hanieh;
El Khouri, Elma;
Patrat, Catherine;
Thierry‐Mieg, Nicolas;
Ray, Pierre F.;
Dulioust, Emmanuel;
Whitfield, Marjorie;
Touré, Aminata

Publication type:

Article

A de novo variant in RERE causes autistic behavior by disrupting related genes and signaling pathway.

Published in:

Clinical Genetics, 2024, v. 105, n. 3, p. 273, doi. 10.1111/cge.14461

By:

Li, Qian;
Li, Wenbo;
Hu, Kaiyue;
Wang, Yaqian;
Li, Yang;
Xu, Jiawei

Publication type:

Article

Functional analysis of the CTNS gene exonic variants predicted to affect splicing.

Published in:

Clinical Genetics, 2024, v. 105, n. 3, p. 323, doi. 10.1111/cge.14460

By:

Li, Changying;
Zhang, Ruixiao;
Pan, Fengjiao;
Xin, Qing;
Shi, Xiaomeng;
Guo, Wencong;
Qiao, Dan;
Wang, Zhi;
Zhang, Yiyin;
Liu, Xuyan;
Zhang, Yan;
Shao, Leping

Publication type:

Article

Assessing type I collagen expression and quality in cellular models of osteogenesis imperfecta.

Published in:

Clinical Genetics, 2024, v. 105, n. 3, p. 329, doi. 10.1111/cge.14463

By:

Udupa, Prajna;
Shrikondawar, Akshaykumar Nanaji;
Ranjan, Akash;
Ghosh, Debasish Kumar

Publication type:

Article

ERBB3 deficiency causes a multisystemic syndrome in human patient and zebrafish.

Published in:

Clinical Genetics, 2024, v. 105, n. 3, p. 283, doi. 10.1111/cge.14462

By:

Liu, Keqiang;
Chen, Ru;
Zhang, Minzhong;
Gong, Yiming;
Wang, Yong;
Cai, Wei

Publication type:

Article

Epidemiological and clinical features of malignant hyperthermia: A scoping review.

Published in:

Clinical Genetics, 2024, v. 105, n. 3, p. 233, doi. 10.1111/cge.14475

By:

Cong, Zhukai;
Wan, Tingting;
Wang, Jiechu;
Feng, Luyang;
Cao, Cathy;
Li, Zhengqian;
Wang, Xiaoxiao;
Han, Yongzheng;
Zhou, Yang;
Gao, Ya;
Zhang, Jing;
Qu, Yinyin;
Guo, Xiangyang

Publication type:

Article

Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.

Published in:

Clinical Genetics, 2024, v. 105, n. 3, p. 335, doi. 10.1111/cge.14466

By:

Strafella, Claudia;
Colantoni, Luca;
Megalizzi, Domenica;
Trastulli, Giulia;
Piorgo, Emma Proietti;
Primiano, Guido;
Sancricca, Cristina;
Ricci, Giulia;
Siciliano, Gabriele;
Caltagirone, Carlo;
Filosto, Massimiliano;
Tasca, Giorgio;
Ricci, Enzo;
Cascella, Raffaella;
Giardina, Emiliano

Publication type:

Article

CAMTA1‐related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.

Published in:

Clinical Genetics, 2024, v. 105, n. 3, p. 294, doi. 10.1111/cge.14464

By:

Al‐Kateb, Hussam;
Au, P. Y. Billie;
Berland, Siren;
Cogne, Benjamin;
Demurger, Florence;
Fluss, Joel;
Isidor, Bertrand;
Frank, L. Matthew;
Varvagiannis, Konstantinos;
Koolen, David A.;
McDonald, Marie;
Montgomery, Sarah;
Moortgat, Stéphanie;
Deprez, Marie;
Karadurmus, Deniz;
Paulsen, Julie;
Reis, André;
Rieger, Melissa;
Vasileiou, Georgia;
Willing, Marcia

Publication type:

Article

Parental request for familial carrier testing in early childhood: The genetic counseling perspective.

Published in:

Clinical Genetics, 2024, v. 105, n. 3, p. 262, doi. 10.1111/cge.14458

By:

Southwick, Sabrina V.;
MacFarlane, Ian M.;
Long, Catherine;
Pillai, Nishitha R.;
Tryon, Rebecca

Publication type:

Article

A novel RNF125 variant associated with Tenorio syndrome alters ubiquitin chain binding.

Published in:

Clinical Genetics, 2024, v. 105, n. 3, p. 254, doi. 10.1111/cge.14457

By:

Barzak, Fareeda M.;
Lu, Anita;
Geltzeiler, Alexa R.;
Ledgerwood, Elizabeth C.;
Chung, Wendy K.;
Day, Catherine L.

Publication type:

Article

CATSHL syndrome, a new family and phenotypic expansion.

Published in:

Clinical Genetics, 2024, v. 105, n. 3, p. 313, doi. 10.1111/cge.14455

By:

Cannova, Silvia;
Meossi, Camilla;
Grilli, Federico;
Milani, Donatella;
Alberti, Federica;
Cesaretti, Claudia;
Marchisio, Paola Giovanna;
Crosti, Francesca;
Pezzani, Lidia

Publication type:

Article

Inheritance of c.628‐6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants.

Published in:

Clinical Genetics, 2024, v. 105, n. 3, p. 340, doi. 10.1111/cge.14454

By:

Pijuan, Jordi;
Vilanova‐Adell, Alba;
Casas‐Alba, Dídac;
Campistol, Jaume;
Hoenicka, Janet;
Palau, Francesc

Publication type:

Article

Genetic identification of familial hypercholesterolemia within whole genome sequences in 6820 newborns.

Published in:

Clinical Genetics, 2024, v. 105, n. 3, p. 308, doi. 10.1111/cge.14453

By:

Zhou, Yingchao;
Luo, Gang;
Zhang, Ai;
Gao, Shuai;
Tang, Yaqi;
Du, Zhanhui;
Pan, Silin

Publication type:

Article

A novel homozygous variant in PMVK is associated with enhanced IL1β secretion and a hyper‐IgD syndrome‐like phenotype.

Published in:

Clinical Genetics, 2024, v. 105, n. 3, p. 302, doi. 10.1111/cge.14451

By:

Jairaman, Amit;
Badiger, Vaishnavi Ashok;
Raj, Spoorthy;
Nair, Karthik Vijay;
Balan, Suma;
Narayanan, Dhanya Lakshmi

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2024, v. 105, n. 3, p. 231, doi. 10.1111/cge.14368
Publication type:: Article

Digenic inheritance accounts for phenotypic variability in amelogenesis imperfecta.

Published in:

Clinical Genetics, 2024, v. 105, n. 3, p. 243, doi. 10.1111/cge.14449

By:

Yang, Yi;
Qin, Man;
Zhao, Yuming;
Wang, Xin

Publication type:

Article