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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
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
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
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
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
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
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
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