Works matching IS 00099163 AND DT 2021 AND VI 100 AND IP 1

Results: 15

Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy.

Published in:

Clinical Genetics, 2021, v. 100, n. 1, p. 106, doi. 10.1111/cge.13964

By:

Mavillard, Fabiola;
Servián‐Morilla, Emilia;
Rivas, Eloy;
Paradas, Carmen;
Cabrera‐Serrano, Macarena

Publication type:

Article

Rapid exome sequencing as the first‐tier investigation for diagnosis of acutely and severely ill children and adults in Thailand.

Published in:

Clinical Genetics, 2021, v. 100, n. 1, p. 100, doi. 10.1111/cge.13963

By:

Kamolvisit, Wuttichart;
Phowthongkum, Prasit;
Boonsimma, Ponghatai;
Kuptanon, Chulaluck;
Rojnueangnit, Kitiwan;
Wattanasirichaigoon, Duangrurdee;
Chanvanichtrakool, Mongkol;
Phuaksaman, Chutima;
Wiromrat, Pattara;
Srichomthong, Chalurmpon;
Ittiwut, Chupong;
Phokaew, Chureerat;
Ittiwut, Rungnapa;
Assawapitaksakul, Adjima;
Chetruengchai, Wanna;
Buasong, Aayalida;
Suphapeetiporn, Kanya;
Shotelersuk, Vorasuk

Publication type:

Article

Third case of Bardet‐Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74.

Published in:

Clinical Genetics, 2021, v. 100, n. 1, p. 93, doi. 10.1111/cge.13962

By:

Mardy, Anne H.;
Hodoglugil, Ugur;
Yip, Tiffany;
Slavotinek, Anne M.

Publication type:

Article

NKX2.1 run‐on mutation associated to familial brain–lung–thyroid syndrome.

Published in:

Clinical Genetics, 2021, v. 100, n. 1, p. 114, doi. 10.1111/cge.13961

By:

Cavaliere, Elena;
Gortan, Anna Jolanda;
Passon, Nadia;
Fabbro, Dora;
Marin, Dario;
Carecchio, Miryam;
Baldan, Federica;
Credendino, Sara Carmela;
Gallo, Rosa;
Cogo, Paola;
Damante, Giuseppe;
De Vita, Gabriella

Publication type:

Article

Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late‐onset ataxia.

Published in:

Clinical Genetics, 2021, v. 100, n. 1, p. 90, doi. 10.1111/cge.13960

By:

Kontogeorgiou, Zoi;
Kartanou, Chrisoula;
Tsirligkani, Chrysanthi;
Anagnostou, Evangelos;
Rentzos, Michail;
Stefanis, Leonidas;
Karadima, Georgia;
Koutsis, Georgios

Publication type:

Article

A novel bi‐allelic loss‐of‐function mutation in STIM1 expands the phenotype of STIM1‐related diseases.

Published in:

Clinical Genetics, 2021, v. 100, n. 1, p. 84, doi. 10.1111/cge.13959

By:

Salvi, Alexandra;
Skrypnyk, Cristina;
Da Silva, Nathalie;
Urtizberea, Jon Andoni;
Bakhiet, Moiz;
Robert, Catherine;
Lévy, Nicolas;
Megarbané, André;
Delague, Valérie;
Bartoli, Marc

Publication type:

Article

Exome sequencing utility in defining the genetic landscape of hearing loss and novel‐gene discovery in Iran.

Published in:

Clinical Genetics, 2021, v. 100, n. 1, p. 59, doi. 10.1111/cge.13956

By:

Mohseni, Marzieh;
Babanejad, Mojgan;
Booth, Kevin T.;
Jamali, Payman;
Jalalvand, Khadijeh;
Davarnia, Behzad;
Ardalani, Fariba;
Khoshaeen, Atefeh;
Arzhangi, Sanaz;
Ghodratpour, Fatemeh;
Beheshtian, Maryam;
Jahanshad, Faezeh;
Otukesh, Hasan;
Bahrami, Fatemeh;
Seifati, Seyed Morteza;
Bazazzadegan, Niloofar;
Habibi, Farkhonde;
Behravan, Hanieh;
Mirzaei, Sepide;
Keshavarzi, Fatemeh

Publication type:

Article

Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta‐analysis.

Published in:

Clinical Genetics, 2021, v. 100, n. 1, p. 3, doi. 10.1111/cge.13949

By:

Chen, Anhai;
Song, Jian;
Acke, Frederic R. E.;
Mei, Lingyun;
Cai, Xinzhang;
Feng, Yong;
He, Chufeng

Publication type:

Article

Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader‐Willi syndrome: A multicenter study.

Published in:

Clinical Genetics, 2021, v. 100, n. 1, p. 29, doi. 10.1111/cge.13947

By:

Mahmoud, Ranim;
Leonenko, Anna;
Butler, Merlin G.;
Flodman, Pamela;
Gold, June‐Anne;
Miller, Jennifer L.;
Roof, Elizabeth;
Dykens, Elisabeth;
Driscoll, Daniel J.;
Kimonis, Virginia

Publication type:

Article

GCH1 mutations in hereditary spastic paraplegia.

Published in:

Clinical Genetics, 2021, v. 100, n. 1, p. 51, doi. 10.1111/cge.13955

By:

Varghaei, Parizad;
Yoon, Grace;
Estiar, Mehrdad A.;
Veyron, Simon;
Leveille, Etienne;
Dupré, Nicolas;
Trempe, Jean‐François;
Rouleau, Guy A.;
Gan‐Or, Ziv

Publication type:

Article

Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole‐exome sequencing.

Published in:

Clinical Genetics, 2021, v. 100, n. 1, p. 40, doi. 10.1111/cge.13951

By:

Hiraide, Takuya;
Yamoto, Kaori;
Masunaga, Yohei;
Asahina, Miki;
Endoh, Yusaku;
Ohkubo, Yumiko;
Matsubayashi, Tomoko;
Tsurui, Satoshi;
Yamada, Hidetaka;
Yanagi, Kumiko;
Nakashima, Mitsuko;
Hirano, Kouichi;
Sugimura, Haruhiko;
Fukuda, Tokiko;
Ogata, Tsutomu;
Saitsu, Hirotomo

Publication type:

Article

DYNC2H1 variants cause Leber congenital amaurosis without syndromic features.

Published in:

Clinical Genetics, 2021, v. 100, n. 1, p. 111, doi. 10.1111/cge.13958

By:

Lee, Junwon;
Lee, Hyunjoo;
Lee, Young‐Mock;
Kuht, Helen J.;
Thomas, Mervyn G.;
Kim, Sang Jin;
Lee, Seung‐Tae;
Han, Jinu

Publication type:

Article

Congenital ataxia due to novel variant in ATP8A2.

Published in:

Clinical Genetics, 2021, v. 100, n. 1, p. 79, doi. 10.1111/cge.13954

By:

Damásio, Joana;
Santos, Diana;
Morais, Sara;
Brás, José;
Guerreiro, Rita;
Sardoeira, Ana;
Cavaco, Sara;
Carrilho, Inês;
Barbot, Clara;
Barros, José;
Sequeiros, Jorge

Publication type:

Article

De novo variants in neurodevelopmental disorders—experiences from a tertiary care center.

Published in:

Clinical Genetics, 2021, v. 100, n. 1, p. 14, doi. 10.1111/cge.13946

By:

Brunet, Theresa;
Jech, Robert;
Brugger, Melanie;
Kovacs, Reka;
Alhaddad, Bader;
Leszinski, Gloria;
Riedhammer, Korbinian M.;
Westphal, Dominik S.;
Mahle, Isabella;
Mayerhanser, Katharina;
Skorvanek, Matej;
Weber, Sandrina;
Graf, Elisabeth;
Berutti, Riccardo;
Necpál, Ján;
Havránková, Petra;
Pavelekova, Petra;
Hempel, Maja;
Kotzaeridou, Urania;
Hoffmann, Georg F.

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2021, v. 100, n. 1, p. 1, doi. 10.1111/cge.13783
Publication type:: Article