Works matching IS 10597794 AND DT 2017 AND VI 38 AND IP 6

Results: 15

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.

Published in:

Human Mutation, 2017, v. 38, n. 6, p. 637, doi. 10.1002/humu.23200

By:

Imagawa, Eri;
Higashimoto, Ken;
Sakai, Yasunari;
Numakura, Chikahiko;
Okamoto, Nobuhiko;
Matsunaga, Satoko;
Ryo, Akihide;
Sato, Yoshinori;
Sanefuji, Masafumi;
Ihara, Kenji;
Takada, Yui;
Nishimura, Gen;
Saitsu, Hirotomo;
Mizuguchi, Takeshi;
Miyatake, Satoko;
Nakashima, Mitsuko;
Miyake, Noriko;
Soejima, Hidenobu;
Matsumoto, Naomichi

Publication type:

Article

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.

Published in:

Human Mutation, 2017, v. 38, n. 6, p. 692, doi. 10.1002/humu.23210

By:

Baertling, Fabian;
Al‐Murshedi, Fathiya;
Sánchez‐Caballero, Laura;
Al‐Senaidi, Khalfan;
Joshi, Niranjan P;
Venselaar, Hanka;
den Brand, Mariël AM;
Nijtmans, Leo GJ;
Rodenburg, Richard JT

Publication type:

Article

Single-base substitutions in the CHM promoter as a cause of choroideremia.

Published in:

Human Mutation, 2017, v. 38, n. 6, p. 704, doi. 10.1002/humu.23212

By:

Radziwon, Alina;
Arno, Gavin;
K. Wheaton, Dianna;
McDonagh, Ellen M.;
Baple, Emma L.;
Webb‐Jones, Kaylie;
G. Birch, David;
Webster, Andrew R.;
MacDonald, Ian M.

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2017, v. 38, n. 6, p. 609, doi. 10.1002/humu.23091
Publication type:: Article

Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted.

Published in:

Human Mutation, 2017, v. 38, n. 6, p. 615, doi. 10.1002/humu.23213

By:

Alsina Casanova, Miguel;
Monteagudo‐Sánchez, Ana;
Rodiguez Guerineau, Luciana;
Court, Franck;
Gazquez Serrano, Isabel;
Martorell, Loreto;
Rovira Zurriaga, Carlota;
Moore, Gudrun E.;
Ishida, Miho;
Castañon, Montserrat;
Moliner Calderon, Elisenda;
Monk, David;
Moreno Hernando, Julio

Publication type:

Article

Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.

Published in:

Human Mutation, 2017, v. 38, n. 6, p. 611, doi. 10.1002/humu.23211

By:

Kernohan, Kristin D.;
Frésard, Laure;
Zappala, Zachary;
Hartley, Taila;
Smith, Kevin S.;
Wagner, Justin;
Xu, Hongbin;
McBride, Arran;
Bourque, Pierre R.;
Consortium, Care4Rare Canada;
Bennett, Steffany A. L.;
Dyment, David A.;
Boycott, Kym M.;
Montgomery, Stephen B.;
Warman Chardon, Jodi

Publication type:

Article

A SAMHD1 mutation associated with Aicardi-Goutières syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans.

Published in:

Human Mutation, 2017, v. 38, n. 6, p. 658, doi. 10.1002/humu.23201

By:

White, Tommy E.;
Brandariz‐Nuñez, Alberto;
Martinez‐Lopez, Alicia;
Knowlton, Caitlin;
Lenzi, Gina;
Kim, Baek;
Ivanov, Dmitri;
Diaz‐Griffero, Felipe

Publication type:

Article

A variant in a cis-regulatory element enhances claudin-14 expression and is associated with pediatric-onset hypercalciuria and kidney stones.

Published in:

Human Mutation, 2017, v. 38, n. 6, p. 649, doi. 10.1002/humu.23202

By:

Ure, Megan E.;
Heydari, Emma;
Pan, Wanling;
Ramesh, Ajay;
Rehman, Sabah;
Morgan, Catherine;
Pinsk, Maury;
Erickson, Robin;
Herrmann, Johannes M.;
Dimke, Henrik;
Cordat, Emmanuelle;
Lemaire, Mathieu;
Walter, Michael;
Alexander, R. Todd

Publication type:

Article

Rare deleterious variants in GRHL3 are associated with human spina bifida.

Published in:

Human Mutation, 2017, v. 38, n. 6, p. 716, doi. 10.1002/humu.23214

By:

Lemay, Philippe;
Marco, Patrizia;
Emond, Alexandre;
Spiegelman, Dan;
Dionne‐Laporte, Alexandre;
Laurent, Sandra;
Merello, Elisa;
Accogli, Andrea;
Rouleau, Guy A;
Capra, Valeria;
Kibar, Zoha

Publication type:

Article

A functional SNP regulated by miR-196a-3p in the 3′UTR of FGF2 is associated with bone mineral density in the Chinese population.

Published in:

Human Mutation, 2017, v. 38, n. 6, p. 725, doi. 10.1002/humu.23216

By:

Zhu, Dong‐Li;
Guo, Yan;
Zhang, Yan;
Dong, Shan‐Shan;
Xu, Wen;
Hao, Ruo‐Han;
Chen, Xiao‐Feng;
Yan, Han;
Yang, Shui‐Yun;
Yang, Tie‐Lin

Publication type:

Article

Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.

Published in:

Human Mutation, 2017, v. 38, n. 6, p. 621, doi. 10.1002/humu.23205

By:

Musante, Luciana;
Püttmann, Lucia;
Kahrizi, Kimia;
Garshasbi, Masoud;
Hu, Hao;
Stehr, Henning;
Lipkowitz, Bettina;
Otto, Sabine;
Jensen, Lars R.;
Tzschach, Andreas;
Jamali, Payman;
Wienker, Thomas;
Najmabadi, Hossein;
Ropers, Hans Hilger;
Kuss, Andreas W.

Publication type:

Article

Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis.

Published in:

Human Mutation, 2017, v. 38, n. 6, p. 736, doi. 10.1002/humu.23218

By:

Sadovnick, A Dessa;
Gu, Ben J;
Traboulsee, Anthony L;
Bernales, Cecily Q;
Encarnacion, Mary;
Yee, Irene M;
Criscuoli, Maria G;
Huang, Xin;
Ou, Amber;
Milligan, Carol J;
Petrou, Steven;
Wiley, James S;
Vilariño‐Güell, Carles

Publication type:

Article

Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development.

Published in:

Human Mutation, 2017, v. 38, n. 6, p. 669, doi. 10.1002/humu.23207

By:

Chen, Yiyun;
Bartanus, Justin;
Liang, Desheng;
Zhu, Hongmin;
Breman, Amy M;
Smith, Janice L;
Wang, Hua;
Ren, Zhilin;
Patel, Ankita;
Stankiewicz, Pawel;
Cram, David S;
Cheung, Sau Wai;
Wu, Lingqian;
Yu, Fuli

Publication type:

Article

Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.

Published in:

Human Mutation, 2017, v. 38, n. 6, p. 678, doi. 10.1002/humu.23208

By:

Bravo‐Alonso, Irene;
Navarrete, Rosa;
Arribas‐Carreira, Laura;
Perona, Almudena;
Abia, David;
Couce, María Luz;
García‐Cazorla, Angels;
Morais, Ana;
Domingo, Rosario;
Ramos, María Antonia;
Swanson, Michael A.;
Hove, Johan L.K.;
Ugarte, Magdalena;
Pérez, Belén;
Pérez‐Cerdá, Celia;
Rodríguez‐Pombo, Pilar

Publication type:

Article

Cover Image, Volume 38, Issue 6.

Published in:

Human Mutation, 2017, v. 38, n. 6, p. i, doi. 10.1002/humu.23244

By:

Imagawa, Eri;
Higashimoto, Ken;
Sakai, Yasunari;
Numakura, Chikahiko;
Okamoto, Nobuhiko;
Matsunaga, Satoko;
Ryo, Akihide;
Sato, Yoshinori;
Sanefuji, Masafumi;
Ihara, Kenji;
Takada, Yui;
Nishimura, Gen;
Saitsu, Hirotomo;
Mizuguchi, Takeshi;
Miyatake, Satoko;
Nakashima, Mitsuko;
Miyake, Noriko;
Soejima, Hidenobu;
Matsumoto, Naomichi

Publication type:

Article