Works matching IS 00099163 AND DT 2023 AND VI 103 AND IP 4

Results: 17

Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report.

Published in:

Clinical Genetics, 2023, v. 103, n. 4, p. 448, doi. 10.1111/cge.14306

By:

Martínez‐Granero, Francisco;
Martínez‐Cayuelas, Elena;
Rodilla, Cristina;
Núñez‐Moreno, Gonzalo;
Rodríguez de Alba, Marta;
Blanco‐Kelly, Fiona;
Romero, Raquel;
Minguez, Pablo;
Ayuso, Carmen;
Lorda‐Sanchez, Isabel;
Corton, Marta;
Almoguera, Berta

Publication type:

Article

Genetic spectrum and clinical features in a cohort of Chinese patients with isolated dystonia.

Published in:

Clinical Genetics, 2023, v. 103, n. 4, p. 459, doi. 10.1111/cge.14298

By:

Li, Li‐Xi;
Liu, Ying;
Huang, Jie‐Hong;
Yang, Yi;
Pan, You‐Gui;
Zhang, Xiao‐Long;
Pan, Li‐Zhen;
Jin, Ling‐Jing

Publication type:

Article

Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum.

Published in:

Clinical Genetics, 2023, v. 103, n. 4, p. 478, doi. 10.1111/cge.14297

By:

Langeh, Nitika;
Saluja, Sumedha;
Ethayathulla, Abdul Samath;
Jana, Manisha;
Shukla, Rashmi;
Palanichamy, Jayanth Kumar;
Gupta, Neerja

Publication type:

Article

Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disorder.

Published in:

Clinical Genetics, 2023, v. 103, n. 4, p. 383, doi. 10.1111/cge.14296

By:

Imagawa, Eri;
Seyama, Rie;
Aoi, Hiromi;
Uchiyama, Yuri;
Marcarini, Bruno Guimaraes;
Furquim, Isabel;
Honjo, Rachel Sayuri;
Bertola, Debora Romeo;
Kim, Chong Ae;
Matsumoto, Naomichi

Publication type:

Article

Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses.

Published in:

Clinical Genetics, 2023, v. 103, n. 4, p. 466, doi. 10.1111/cge.14294

By:

Yoshihama, Keisuke;
Mutai, Hideki;
Sekimizu, Mariko;
Ito, Fumihiro;
Saito, Shin;
Nakamura, Shintaro;
Mikoshiba, Takuya;
Nagai, Ryoto;
Takebayashi, Akiko;
Miya, Fuyuki;
Kosaki, Kenjiro;
Ozawa, Hiroyuki;
Matsunaga, Tatsuo

Publication type:

Article

Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.

Published in:

Clinical Genetics, 2023, v. 103, n. 4, p. 401, doi. 10.1111/cge.14291

By:

Masson, Julie;
Pebrel‐Richard, Céline;
Egloff, Matthieu;
Frétigny, Mathilde;
Beaumont, Marion;
Uguen, Kevin;
Rollat‐Farnier, Pierre‐Antoine;
Diguet, Flavie;
Perthus, Isabelle;
Le Gudayer, Gwenaël;
Haye, Damien;
Dupeyron, Marie‐Noëlle Bonnet;
Putoux, Audrey;
Raskin‐Champion, Fabienne;
Till, Marianne;
Chatron, Nicolas;
Doray, Bérénice;
Bardel, Claire;
Vinciguerra, Christine;
Sanlaville, Damien

Publication type:

Article

Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.

Published in:

Clinical Genetics, 2023, v. 103, n. 4, p. 484, doi. 10.1111/cge.14290

By:

Averdunk, Luisa;
Al‐Thihli, Khalid;
Surowy, Harald;
Lüdecke, Hermann‐Josef;
Drechsler, Matthias;
Yigit, Gökhan;
Smorag, Lukasz;
Al Hallak, Bassam;
Li, Yun;
Altmüller, Janine;
Guthoff, Tanja;
Wallot, Michael;
Nürnberg, Peter;
Wollnik, Bernd;
Jamra, Rami Abou;
Al‐Maawali, Almundher;
Wieczorek, Dagmar

Publication type:

Article

Novo pathogenic variations of NLRP7 increasing the risk of gestational trophoblastic neoplasia.

Published in:

Clinical Genetics, 2023, v. 103, n. 4, p. 498, doi. 10.1111/cge.14288

By:

Tao, Chengqiu;
Zhu, Tingting;
Tang, Shuyan;
Lu, Jiaqi;
Lin, Xiaoqi;
Li, Xiuqin;
Liu, Xiaomei;
Pang, Yicun;
Zhao, Huan;
Liang, Jie;
Zhang, Feng;
Lu, Xin;
Zhang, Ling

Publication type:

Article

Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene.

Published in:

Clinical Genetics, 2023, v. 103, n. 4, p. 492, doi. 10.1111/cge.14287

By:

Llauradó, Arnau;
Rovira‐Moreno, Eulalia;
Codina‐Solà, Marta;
Martínez‐Saez, Elena;
Salvadó, Maria;
Sanchez‐Tejerina, Daniel;
Sotoca, Javier;
López‐Diego, Verónica;
Restrepo‐Vera, Juan Luis;
Garcia‐Arumi, Elena;
Juntas‐Morales, Raul

Publication type:

Article

ROSAH syndrome mimicking chronic uveitis.

Published in:

Clinical Genetics, 2023, v. 103, n. 4, p. 453, doi. 10.1111/cge.14286

By:

Fardeau, Christine;
Alafaleq, Munirah;
Dhaenens, Claire‐Marie;
Dollfus, Hélène;
Koné‐Paut, Isabelle;
Grunewald, Olivier;
Morel, Jean‐Baptiste;
Titah, Cherif;
Saadoun, David;
Lazeran, Patrice Olivier;
Meunier, Isabelle

Publication type:

Article

A novel PLS1 c.981+1G>A variant causes autosomal‐dominant hereditary hearing loss in a family.

Published in:

Clinical Genetics, 2023, v. 103, n. 4, p. 413, doi. 10.1111/cge.14283

By:

Xu, Liangpu;
Wang, Xinrui;
Li, Jia;
Chen, Lingji;
Wang, Haiwei;
Xu, Shiyi;
Zhang, Yanhong;
Li, Wei;
Yao, Pengcheng;
Tan, Meihua;
Zhou, Si;
Chen, Meihuan;
Pan, Yali;
Chen, Xuemei;
Chen, Xiaolan;
Liu, Yunliang;
Lin, Na;
Huang, Hailong;
Cao, Hua

Publication type:

Article

Strategies for activity analysis of single nucleotide polymorphisms associated with human diseases.

Published in:

Clinical Genetics, 2023, v. 103, n. 4, p. 392, doi. 10.1111/cge.14282

By:

Ren, Naixia;
Dai, Shangkun;
Ma, Shumin;
Yang, Fengtang

Publication type:

Article

Novel homozygous variant of CCIN causes male infertility owing to the abnormal sperm head with a nuclear subsidence phenotype.

Published in:

Clinical Genetics, 2023, v. 103, n. 4, p. 495, doi. 10.1111/cge.14281

By:

He, Jiaxin;
Liu, Qiang;
Wang, Weili;
Su, Lilan;
Meng, Lanlan;
Tan, Chen;
Zhang, Huan;
Zhang, Qianjun;
Lu, Guangxiu;
Du, Juan;
Lin, Ge;
Tu, Chaofeng;
Tan, Yue‐Qiu

Publication type:

Article

Novel homozygous variant in ARL2BP associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patient.

Published in:

Clinical Genetics, 2023, v. 103, n. 4, p. 472, doi. 10.1111/cge.14278

By:

Zhu, Tian;
Li, Hui;
Wei, Xing;
Li, Wuyi;
Sun, Zixi;
Sui, Ruifang

Publication type:

Article

Evaluation of out‐of‐pocket pay genetic testing in a publicly funded healthcare system.

Published in:

Clinical Genetics, 2023, v. 103, n. 4, p. 424, doi. 10.1111/cge.14276

By:

Grant, Peter;
Cook, Courtney B.;
Langlois, Sylvie;
Nuk, Jennifer;
Mung, SzeWing;
Zhang, Qian;
Lynd, Larry D.;
Austin, Jehannine;
Elliott, Alison M.

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2023, v. 103, n. 4, p. 381, doi. 10.1111/cge.14154
Publication type:: Article

Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil.

Published in:

Clinical Genetics, 2023, v. 103, n. 4, p. 434, doi. 10.1111/cge.14279

By:

Costa‐Riquetto, Aline Dantas;
de Santana, Lucas Santos;
Franco, Pedro Campos;
Jr, Augusto Cezar Santomauro;
Martio, Artur Eduardo;
Lisboa, Hugo Roberto Kurtz;
Kohara, Suely Keiko;
Teles, Milena G.

Publication type:

Article