Works matching IS 00099163 AND DT 2023 AND VI 104 AND IP 6

Results: 15

RIPOR2: A new gene of non‐syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models.

Published in:

Clinical Genetics, 2023, v. 104, n. 6, p. 669, doi. 10.1111/cge.14436

By:

Morel, Godelieve;
Ernest, Sylvain;
Serey‐Gaut, Margaux;
Jonard, Laurence;
Balogoun, Abeke Ralyath;
Parodi, Marine;
Loundon, Natalie;
Achard, Sophie;
Marlin, Sandrine

Publication type:

Article

LRRC23 deficiency causes male infertility with idiopathic asthenozoospermia by disrupting the assembly of radial spokes.

Published in:

Clinical Genetics, 2023, v. 104, n. 6, p. 694, doi. 10.1111/cge.14433

By:

Li, Yuqian;
Zhang, Qiang;
Tan, Qing;
Sha, Xuan;
Gao, Yang;
Hua, Rong;
Zhou, Ping;
Wei, Zhaolian;
He, Xiaojin;
Cao, Yunxia;
Li, Tao;
Wu, Huan

Publication type:

Article

Recurrence of a BBS1 variant in Bardet–Biedl patients from Prince Edward Island.

Published in:

Clinical Genetics, 2023, v. 104, n. 6, p. 713, doi. 10.1111/cge.14418

By:

Alghaith, Fahad A.;
MacKay, Sara;
Wallace, Karin;
Locke, Jeff;
Robitaille, Johane M.;
Dyack, Sarah;
Arts, Heleen H.

Publication type:

Article

Novel WEE2 homozygous mutations c.1346C>T and c.949A>T identified in primary infertile women due to unexplained fertilization failure.

Published in:

Clinical Genetics, 2023, v. 104, n. 6, p. 700, doi. 10.1111/cge.14429

By:

Guo, Haiyan;
Wu, Haibo;
Yan, Zheng;
Yin, Mingru;
Wu, Ling;
Li, Bin

Publication type:

Article

Prospects and challenges of CRISPR/Cas9 gene‐editing technology in cancer research.

Published in:

Clinical Genetics, 2023, v. 104, n. 6, p. 613, doi. 10.1111/cge.14424

By:

Ning, Li;
Xi, Jiahui;
Zi, Yin;
Chen, Min;
Zou, Qingjian;
Zhou, Xiaoqing;
Tang, Chengcheng

Publication type:

Article

Lamb–Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.

Published in:

Clinical Genetics, 2023, v. 104, n. 6, p. 637, doi. 10.1111/cge.14423

By:

Tenorio‐Castano, Jair;
Gómez, Ángela Sánchez‐Algaba;
Coronado, Mónica;
Rodríguez‐Martín, Pilar;
Parra, Alejandro;
Pascual, Patricia;
Cazalla, Mario;
Gallego, Natalia;
Arias, Pedro;
Morales, Aixa V.;
Nevado, Julián;
Lapunzina, Pablo

Publication type:

Article

Spectrum of variants in a large Chinese Gitelman syndrome cohort.

Published in:

Clinical Genetics, 2023, v. 104, n. 6, p. 674, doi. 10.1111/cge.14422

By:

Mou, Lijun;
Tang, Mengyue;
Zhu, Lina;
Lin, Wanbing;
Gu, Ying

Publication type:

Article

A X‐linked nonsense APOO/MIC26 variant causes a lethal mitochondrial disease with progeria‐like phenotypes.

Published in:

Clinical Genetics, 2023, v. 104, n. 6, p. 659, doi. 10.1111/cge.14420

By:

Peifer‐Weiß, Leon;
Kurban, Mazen;
David, Céline;
Lubeck, Melissa;
Kondadi, Arun Kumar;
Nemer, Georges;
Reichert, Andreas S.;
Anand, Ruchika

Publication type:

Article

Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility.

Published in:

Clinical Genetics, 2023, v. 104, n. 6, p. 648, doi. 10.1111/cge.14425

By:

Wang, Xiang;
Zhou, Ruixi;
Lu, Xiaowei;
Dai, Siyu;
Liu, Mohan;
Jiang, Chuan;
Yang, Yanting;
Shen, Ying;
Wang, Yan;
Liu, Hanmin

Publication type:

Article

From pollakiuria to Donnai‐Barrow syndrome diagnosis in pediatric age.

Published in:

Clinical Genetics, 2023, v. 104, n. 6, p. 711, doi. 10.1111/cge.14417

By:

Gritti, Michela M.;
Pecoraro, Luca;
Ceol, Monica;
Pietrobelli, Angelo;
Piacentini, Giorgio;
Anglani, Franca;
Brugnara, Milena

Publication type:

Article

Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.

Published in:

Clinical Genetics, 2023, v. 104, n. 6, p. 686, doi. 10.1111/cge.14416

By:

Hautakangas, Milla‐Riikka;
Widgren, Paula;
Korpelainen, Paavo;
Kangas, Salla M.;
Komulainen, Tuomas;
Vieira, Päivi;
Rahikkala, Elisa;
Pylkäs, Katri;
Tuominen, Hannu;
Kokkonen, Hannaleena;
Miinalainen, Ilkka;
Nadaf, Javad;
Majewski, Jacek;
Hinttala, Reetta;
Uusimaa, Johanna

Publication type:

Article

A novel in‐frame deletion in MYOT causes an early adult onset distal myopathy.

Published in:

Clinical Genetics, 2023, v. 104, n. 6, p. 705, doi. 10.1111/cge.14413

By:

Guglielmi, Valeria;
Pancheri, Elia;
Cannone, Elena;
Nigro, Vincenzo;
Malatesta, Manuela;
Vettori, Andrea;
Giorgetti, Alejandro;
Torella, Annalaura;
Aurino, Stefania;
Cisterna, Barbara;
Marchetto, Giulia;
Tomelleri, Giuliano;
Tonin, Paola;
Schiavone, Marco;
Vattemi, Gaetano

Publication type:

Article

Biallelic ANKS6 null variants cause notable extrarenal phenotypes in a nephronophthisis patient and lead to hepatobiliary abnormalities by YAP1 deficiency.

Published in:

Clinical Genetics, 2023, v. 104, n. 6, p. 625, doi. 10.1111/cge.14412

By:

Liu, Keqiang;
Chen, Ru;
Wang, Xiaoying;
Gong, Yiming;
Shi, Jia;
Gu, Beilin;
Zhou, Ying;
Cai, Wei

Publication type:

Article

A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT).

Published in:

Clinical Genetics, 2023, v. 104, n. 6, p. 679, doi. 10.1111/cge.14406

By:

Saygılı, Seha;
Koşukcu, Can;
Baştuğ, Turgut;
Doğan, Özlem Akgün;
Yılmaz, Esra Karabağ;
Kalyoncu, Ayşe Uçar;
Ağbaş, Ayşe;
Canpolat, Nur;
Çalışkan, Salim;
Ozaltin, Fatih

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2023, v. 104, n. 6, p. 611, doi. 10.1111/cge.14162
Publication type:: Article