Works matching IS 00099163 AND DT 2019 AND VI 96 AND IP 2

Results: 11

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.

Published in:

Clinical Genetics, 2019, v. 96, n. 2, p. 107, doi. 10.1111/cge.13546

By:

Germain, Dominique P.;
Fouilhoux, Alain;
Decramer, Stéphane;
Tardieu, Marine;
Pillet, Pascal;
Fila, Marc;
Rivera, Serge;
Deschênes, Georges;
Lacombe, Didier

Publication type:

Article

Issue Information ‐ Editorial Board.

Published in:: Clinical Genetics, 2019, v. 96, n. 2, p. 105, doi. 10.1111/cge.13400
Publication type:: Article

A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family.

Published in:

Clinical Genetics, 2019, v. 96, n. 2, p. 176, doi. 10.1111/cge.13563

By:

Wang, Binghao;
Li, Xiaobo;
Huang, Shunxiang;
Zhao, Huadong;
Liu, Jun;
Hu, Zhengmao;
Lin, Zhiqiang;
Liu, Lei;
Xie, Yongzhi;
Jin, Qingwen;
Zhao, Huihui;
Tang, Beisha;
Niu, Qi;
Zhang, Ruxu

Publication type:

Article

Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2.

Published in:

Clinical Genetics, 2019, v. 96, n. 2, p. 183, doi. 10.1111/cge.13580

By:

Jepsen, Wayne M.;
Ramsey, Keri;
Szelinger, Szabolcs;
Llaci, Lorida;
Balak, Chris;
Belnap, Newell;
Bilagody, Cherae;
De Both, Matthew;
Gupta, Raj;
Naymik, Marcus;
Pandey, Richa;
Piras, Ignazio S.;
Sanchez‐Castillo, Meredith;
Rangasamy, Sampathkumar;
Narayanan, Vinodh;
Huentelman, Matthew J.

Publication type:

Article

Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia.

Published in:

Clinical Genetics, 2019, v. 96, n. 2, p. 169, doi. 10.1111/cge.13562

By:

Nicita, Francesco;
Nardella, Marta;
Bellacchio, Emanuele;
Alfieri, Paolo;
Terrone, Gaetano;
Piccini, Giorgia;
Graziola, Federica;
Pignata, Claudio;
Capuano, Alessandro;
Bertini, Enrico;
Zanni, Ginevra

Publication type:

Article

Low‐depth sequencing for copy number abnormalities in multiple myeloma supersedes fluorescent in situ hybridization in scope and resolution.

Published in:

Clinical Genetics, 2019, v. 96, n. 2, p. 163, doi. 10.1111/cge.13561

By:

Elnenaei, Manal O.;
Knopf, Philipp;
Cutler, Samuel D.;
Sinclair, Keaton;
Abou El Hassan, Mohamed;
Greer, Wenda;
Goudie, Marissa;
Wagner, Julie;
White, Darrell;
Couban, Stephen;
Forward, Nicholas;
Gaston, Daniel;
Campbell, Clinton J.V.

Publication type:

Article

Trends in phenotype in the English paediatric neurofibromatosis type 2 cohort stratified by genetic severity.

Published in:

Clinical Genetics, 2019, v. 96, n. 2, p. 151, doi. 10.1111/cge.13551

By:

Halliday, Dorothy;
Emmanouil, Beatrice;
Vassallo, Grace;
Lascelles, Karine;
Nicholson, James;
Chandratre, Saleel;
Anand, Geetha;
Wasik, Martin;
Pretorius, Pieter;
Evans, D. Gareth;
Parry, Allyson;
Axon, Patrick;
Gair, Juliette;
Smyth, Carolyn;
Afridi, Shazia K;
Obholzer, Rupert;
Everett, Vanessa;
Jarvis, Nicola;
Henshaw, Kirsty;
Hanemann, C Oliver

Publication type:

Article

The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.

Published in:

Clinical Genetics, 2019, v. 96, n. 2, p. 140, doi. 10.1111/cge.13548

By:

Jiao, Qingguo;
Sun, Haiming;
Zhang, Haoya;
Wang, Ran;
Li, Suting;
Sun, Dan;
Yang, Xiu‐An;
Jin, Yan

Publication type:

Article

Whole‐exome sequencing revealed a nonsense mutation in STKLD1 causing non‐syndromic pre‐axial polydactyly type A affecting only upper limb.

Published in:

Clinical Genetics, 2019, v. 96, n. 2, p. 134, doi. 10.1111/cge.13547

By:

Umair, Muhammad;
Bilal, Muhammad;
Ali, Raja H.;
Alhaddad, Bader;
Ahmad, Farooq;
Abdullah;
Haack, Tobias B.;
Alfadhel, Majid;
Ansar, Muhammad;
Meitinger, Thomas;
Ahmad, Wasim

Publication type:

Article

Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.

Published in:

Clinical Genetics, 2019, v. 96, n. 2, p. 126, doi. 10.1111/cge.13544

By:

ten Dam, Leroy;
Frankhuizen, Wendy S.;
Linssen, Wim H.J.P.;
Straathof, Chiara S.;
Niks, Erik H.;
Faber, Karin;
Fock, Annemarie;
Kuks, Jan B.;
Brusse, Esther;
de Coo, René;
Voermans, Nicol;
Verrips, Aad;
Hoogendijk, Jessica E.;
van der Pol, Ludo;
Westra, Dineke;
de Visser, Marianne;
van der Kooi, Anneke J.;
Ginjaar, Ieke

Publication type:

Article

Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.

Published in:

Clinical Genetics, 2019, v. 96, n. 2, p. 118, doi. 10.1111/cge.13543

By:

Frisk, Sofia;
Taylan, Fulya;
Blaszczyk, Izabela;
Nennesmo, Inger;
Annerén, Göran;
Herm, Bettina;
Stattin, Eva‐Lena;
Zachariadis, Vasilios;
Lindstrand, Anna;
Tesi, Bianca;
Laurell, Tobias;
Nordgren, Ann

Publication type:

Article