Works matching IS 00099163 AND DT 2023 AND VI 103 AND IP 3

Results: 18

Novel de novo ZNF148 truncating variant causing autism spectrum disorder, attention deficit hyperactivity disorder, and intellectual disability.

Published in:

Clinical Genetics, 2023, v. 103, n. 3, p. 364, doi. 10.1111/cge.14272

By:

Miao, Chunyue;
Du, Lin;
Zhang, Yu;
Jia, Feiyong;
Shan, Ling

Publication type:

Article

A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.

Published in:

Clinical Genetics, 2023, v. 103, n. 3, p. 320, doi. 10.1111/cge.14273

By:

Zhao, Rulian;
Dai, Erkuan;
Wang, Shiyuan;
Zhang, Xiang;
He, Yunqi;
Peng, Li;
Zhao, Peiquan;
Yang, Zhenglin;
Yang, Mu;
Li, Shujin

Publication type:

Article

A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.

Published in:

Clinical Genetics, 2023, v. 103, n. 3, p. 377, doi. 10.1111/cge.14270

By:

Couloigner, Loïc;
Planes, Marc;
Ka, Chandran;
Audebert‐Bellanger, Séverine;
Redon, Sylvia;
Benech, Caroline;
Rouault, Karen;
Küry, Sebastien;
Peudenier, Sylviane;
Autret, Sandrine;
Gourlaouen, Isabelle;
Bonneau, Dominique;
Odent, Sylvie;
Bézieau, Stéphane;
Gilbert‐Dussardier, Brigitte;
Toutain, Annick;
Boland, Anne;
Deleuze, Jean‐François;
Le Marechal, Cédric;
Le Gac, Gérald

Publication type:

Article

Aminoacylation‐defective bi‐allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness.

Published in:

Clinical Genetics, 2023, v. 103, n. 3, p. 358, doi. 10.1111/cge.14269

By:

Jin, Danni;
Wek, Sheree A.;
Cordova, Ricardo A.;
Wek, Ronald C.;
Lacombe, Didier;
Michaud, Vincent;
Musier‐Forsyth, Karin

Publication type:

Article

Identification of nonfunctional SPATA20 causing acephalic spermatozoa syndrome in humans.

Published in:

Clinical Genetics, 2023, v. 103, n. 3, p. 310, doi. 10.1111/cge.14268

By:

Wang, Xiang;
Jiang, Chuan;
Dai, Siyu;
Shen, Gan;
Yang, Yihong;
Shen, Ying

Publication type:

Article

Genetic screening in patients with ovarian dysfunction.

Published in:

Clinical Genetics, 2023, v. 103, n. 3, p. 352, doi. 10.1111/cge.14267

By:

Zeng, Yang;
Li, Lin;
Li, Qingchun;
Hu, Jijun;
Zhang, Nana;
Wu, Ling;
Yan, Zheng;
Qu, Ronggui;
Dong, Jie;
Liu, Ruyi;
Choy, Kwong Wai;
Wang, Lei;
Sang, Qing;
Guan, Yichun;
Chen, Biaobang

Publication type:

Article

New insights in efficacy of different enzyme replacement therapy dosages in Fabry disease: Switch studies data following agalsidase beta shortage.

Published in:

Clinical Genetics, 2023, v. 103, n. 3, p. 371, doi. 10.1111/cge.14266

By:

Riccio, Eleonora;
Pisani, Antonio

Publication type:

Article

Loss‐of‐function mutations in CST6 cause dry skin, desquamation and abnormal keratosis without hypotrichosis.

Published in:

Clinical Genetics, 2023, v. 103, n. 3, p. 301, doi. 10.1111/cge.14265

By:

Wang, Xuan;
Liu, Jun;
Chen, Junyi;
Xu, Xueyan;
Zhong, Yadan;
Xu, Yingping;
Lu, Ping;
Zhou, Jiajian;
Lin, Zhimiao;
Yang, Bin;
Yang, Chao

Publication type:

Article

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.

Published in:

Clinical Genetics, 2023, v. 103, n. 3, p. 346, doi. 10.1111/cge.14264

By:

Becker, Aurélie;
Felici, Charlotte;
Lambert, Laëtitia;
de Saint Martin, Anne;
Abi‐Warde, Marie‐Thérèse;
Schaefer, Elise;
Zix, Christian;
Zamani, Mina;
Sadeghian, Saeid;
Zeighami, Jawaher;
Seifi, Tahereh;
Azizimalamiri, Reza;
Shariati, Gholamreza;
Galehdari, Hamid;
Selig, Mareike;
Ding, Can;
Duerinckx, Sarah;
Pirson, Isabelle;
Abramowicz, Marc;
Clément, Guillemette

Publication type:

Article

A bi‐allelic missense change c.638A > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without cardiac anomalies.

Published in:

Clinical Genetics, 2023, v. 103, n. 3, p. 369, doi. 10.1111/cge.14263

By:

Nampoothiri, Sheela;
Dsouza, Jeanne Maria;
Yesodharan, Dhanya;
Girisha, Katta M.;
Eapen, Malini;
Sivasankaran Nair, Sajitha;
Pillai, Bhanu Vikraman;
Radhakrishnan, Periyasamy

Publication type:

Article

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.

Published in:

Clinical Genetics, 2023, v. 103, n. 3, p. 288, doi. 10.1111/cge.14262

By:

Hartley, Taila;
Soubry, Élisabeth;
Acker, Meryl;
Osmond, Matthew;
Couse, Madeline;
Gillespie, Meredith K.;
Ito, Yoko;
Marshall, Aren E.;
Lemire, Gabrielle;
Huang, Lijia;
Chisholm, Caitlin;
Eaton, Alison J.;
Price, E. Magda;
Dowling, James J.;
Ramani, Arun K.;
Mendoza‐Londono, Roberto;
Costain, Gregory;
Axford, Michelle M.;
Szuto, Anna;
McNiven, Vanda

Publication type:

Article

FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.

Published in:

Clinical Genetics, 2023, v. 103, n. 3, p. 277, doi. 10.1111/cge.14261

By:

Croft, Brittany;
Bird, Anthony D.;
Ono, Makoto;
Eggers, Stefanie;
Bagheri‐Fam, Stefan;
Ryan, Janelle M.;
Reyes, Alejandra P.;
van den Bergen, Jocelyn;
Baxendale, Anne;
Thompson, Elizabeth M.;
Kueh, Andrew J.;
Stanton, Peter;
Thomas, Tim;
Sinclair, Andrew H.;
Harley, Vincent R.

Publication type:

Article

Dynamic interplay of microRNA in diseases and therapeutic.

Published in:

Clinical Genetics, 2023, v. 103, n. 3, p. 268, doi. 10.1111/cge.14256

By:

Kargutkar, Neha;
Hariharan, Priya;
Nadkarni, Anita

Publication type:

Article

A novel variant in AFF3 underlying isolated syndactyly.

Published in:

Clinical Genetics, 2023, v. 103, n. 3, p. 341, doi. 10.1111/cge.14254

By:

Khan, Hammal;
Koh, Glenn;
Chong, Angie En Qi;
Zahid, Muhammad;
Hussain, Shabir;
Ali, Hamid;
Ahmad, Wasim;
Xue, Shifeng

Publication type:

Article

Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome.

Published in:

Clinical Genetics, 2023, v. 103, n. 3, p. 330, doi. 10.1111/cge.14251

By:

Devlin, Laura A.;
Coles, Janice;
Jackson, Claire L.;
Barroso‐Gil, Miguel;
Green, Ben;
Walker, Woolf T.;
Thomas, N. Simon;
Thompson, James;
Rock, Simon A.;
Neatu, Ruxandra;
Powell, Laura;
Molinari, Elisa;
Wilson, Ian J.;
Cordell, Heather J.;
Olinger, Eric;
Miles, Colin G.;
Sayer, John A.;
Wheway, Gabrielle;
Lucas, Jane S.

Publication type:

Article

Vascular aneurysms in Ehlers‐Danlos syndrome subtypes: A systematic review.

Published in:

Clinical Genetics, 2023, v. 103, n. 3, p. 261, doi. 10.1111/cge.14245

By:

Shabani, Mahsima;
Abdollahi, Ashkan;
Brar, Bobby K.;
MacCarrick, Gretchen L.;
Ambale Venkatesh, Bharath;
Lima, Joao A. C.;
Bodurtha, Joann N.

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2023, v. 103, n. 3, p. 259, doi. 10.1111/cge.14153
Publication type:: Article

Management of copy number variants associated with incomplete penetrance and variable expressivity—Results of a French survey.

Published in:

Clinical Genetics, 2023, v. 103, n. 3, p. 335, doi. 10.1111/cge.14252

By:

Lejamtel, Floriane;
Oheix, Cécile;
Morales, Elisa;
Martinovic, Jelena;
Labrune, Philippe;
Petit, François Mickaël;
Receveur, Aline;
Achour‐Frydman, Nelly;
Benachi, Alexandra;
Puisney‐Dakhli, Chloé;
Vivanti, Alexandre Joseph

Publication type:

Article