Works matching IS 10597794 AND DT 2020 AND VI 41 AND IP 7

Results: 14

Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.

Published in:

Human Mutation, 2020, v. 41, n. 7, p. 1329, doi. 10.1002/humu.24026

By:

Gallego, Diana;
Leal, Fátima;
Gámez, Alejandra;
Castro, Margarita;
Navarrete, Rosa;
Sanchez‐Lijarcio, Obdulia;
Vitoria, Isidro;
Bueno‐Delgado, María;
Belanger‐Quintana, Amaya;
Morais, Ana;
Pedrón‐Giner, Consuelo;
García, Inmaculada;
Campistol, Jaume;
Artuch, Rafael;
Alcaide, Carlos;
Cornejo, Veronica;
Gil, David;
Yahyaoui, Raquel;
Desviat, Lourdes R.;
Ugarte, Magdalena

Publication type:

Article

An update on genetic variants of the NKX2‐5.

Published in:

Human Mutation, 2020, v. 41, n. 7, p. 1187, doi. 10.1002/humu.24030

By:

Kolomenski, Jorge E.;
Delea, Marisol;
Simonetti, Leandro;
Fabbro, Mónica C.;
Espeche, Lucía D.;
Taboas, Melisa;
Nadra, Alejandro D.;
Bruque, Carlos D.;
Dain, Liliana

Publication type:

Article

The EAHAD blood coagulation factor VII variant database.

Published in:

Human Mutation, 2020, v. 41, n. 7, p. 1209, doi. 10.1002/humu.24025

By:

Giansily‐Blaizot, Muriel;
Rallapalli, Pavithra M.;
Perkins, Stephen J.;
Kemball‐Cook, Geoffrey;
Hampshire, Daniel J.;
Gomez, Keith;
Ludlam, Christopher A.;
McVey, John H.

Publication type:

Article

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy.

Published in:

Human Mutation, 2020, v. 41, n. 7, p. 1263, doi. 10.1002/humu.24015

By:

Carvill, Gemma L.;
Helbig, Katherine L.;
Myers, Candace T.;
Scala, Marcello;
Huether, Robert;
Lewis, Sara;
Kruer, Tyler N.;
Guida, Brandon S.;
Bakhtiari, Somayeh;
Sebe, Joy;
Tang, Sha;
Stickney, Heather;
Oktay, Sehribani Ulusoy;
Bhandiwad, Ashwin A.;
Ramsey, Keri;
Narayanan, Vinodh;
Feyma, Timothy;
Rohena, Luis O.;
Accogli, Andrea;
Severino, Mariasavina

Publication type:

Article

Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism.

Published in:

Human Mutation, 2020, v. 41, n. 7, p. 1226, doi. 10.1002/humu.24022

By:

Kluwe, Lan;
Friedrich, Reinhard E.;
Farschtschi, Said C.;
Hagel, Christian;
Kehrer‐Sawatzki, Hildegard;
Mautner, Victor‐Felix

Publication type:

Article

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.

Published in:

Human Mutation, 2020, v. 41, n. 7, p. 1220, doi. 10.1002/humu.24021

By:

Boussion, Simon;
Escande, Fabienne;
Jourdain, Anne‐Sophie;
Smol, Thomas;
Brunelle, Perrine;
Duhamel, Céline;
Alembik, Yves;
Attié‐Bitach, Tania;
Baujat, Geneviève;
Bazin, Anne;
Bonnière, Maryse;
Carassou, Philippe;
Carles, Dominique;
Devisme, Louise;
Goizet, Cyril;
Goldenberg, Alice;
Grotto, Sarah;
Guichet, Agnès;
Jouk, Pierre‐Simon;
Loeuillet, Laurence

Publication type:

Article

Disease‐causing missense mutations within the N‐terminal transmembrane domain of GlcNAc‐1‐phosphotransferase impair endoplasmic reticulum translocation or Golgi retention.

Published in:

Human Mutation, 2020, v. 41, n. 7, p. 1321, doi. 10.1002/humu.24019

By:

Lee, Wang‐Sik;
Jennings, Benjamin C.;
Doray, Balraj;
Kornfeld, Stuart

Publication type:

Article

Targeted resequencing reveals rare variants enrichment in multiple sclerosis susceptibility genes.

Published in:

Human Mutation, 2020, v. 41, n. 7, p. 1308, doi. 10.1002/humu.24016

By:

Gil‐Varea, Elia;
Spataro, Nino;
Villar, Luisa María;
Tejeda‐Velarde, Amalia;
Midaglia, Luciana;
Matesanz, Fuencisla;
Malhotra, Sunny;
Eixarch, Herena;
Patsopoulos, Nikolaos;
Fernández, Óscar;
Oliver‐Martos, Begoña;
Saiz, Albert;
Llufriu, Sara;
Ramió‐Torrentà, Lluís;
Quintana, Ester;
Izquierdo, Guillermo;
Alcina, Antonio;
Bosch, Elena;
Navarro, Arcadi;
Montalban, Xavier

Publication type:

Article

Bi‐allelic mutations in HARS1 severely impair histidyl‐tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome.

Published in:

Human Mutation, 2020, v. 41, n. 7, p. 1232, doi. 10.1002/humu.24024

By:

Galatolo, Daniele;
Kuo, Molly E.;
Mullen, Patrick;
Meyer‐Schuman, Rebecca;
Doccini, Stefano;
Battini, Roberta;
Lieto, Maria;
Tessa, Alessandra;
Filla, Alessandro;
Francklyn, Christopher;
Antonellis, Anthony;
Santorelli, Filippo M.

Publication type:

Article

Functional characterization of four ATP‐binding cassette transporter A3 gene (ABCA3) variants.

Published in:

Human Mutation, 2020, v. 41, n. 7, p. 1298, doi. 10.1002/humu.24014

By:

Hu, June Y.;
Yang, Ping;
Wegner, Daniel J.;
Heins, Hillary B.;
Luke, Cliff J.;
Li, Fuhai;
White, Frances V.;
Silverman, Gary A.;
Sessions Cole, F.;
Wambach, Jennifer A.

Publication type:

Article

A protective polymorphism in MMP16, improved blood gas levels, and chronic obstructive pulmonary diseases: Family and two population‐based studies.

Published in:

Human Mutation, 2020, v. 41, n. 7, p. 1280, doi. 10.1002/humu.24013

By:

Zhang, Zili;
Wang, Jian;
Zheng, Zeguang;
Chen, Xindong;
Xu, Guihua;
Chen, Sifan;
Liu, Fei;
Chen, Lingdan;
Ding, Mingjing;
Yuan, Liang;
Li, Yuanyuan;
Qian, Jing;
Xie, Xiaohui;
Deng, Bingxian;
Lu, Wenju

Publication type:

Article

Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.

Published in:

Human Mutation, 2020, v. 41, n. 7, p. 1250, doi. 10.1002/humu.24010

By:

Angel, Guillermo;
Reynders, John;
Negron, Christopher;
Steinbrecher, Thomas;
Mornet, Etienne

Publication type:

Article

Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.

Published in:

Human Mutation, 2020, v. 41, n. 7, p. 1238, doi. 10.1002/humu.24009

By:

Ballout, Rami A.;
Dickerson, Cheryl;
Wick, Myra J.;
Al‐Sweel, Najla;
Openshaw, Amanda S.;
Srivastava, Siddharth;
Swanson, Lindsay C.;
Bramswig, Nuria C.;
Kuechler, Alma;
Hong, Bo;
Fleming, Leah R.;
Curry, Kathryn;
Robertson, Stephen P.;
Andersen, Erica F.;
El‐Hattab, Ayman W.

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2020, v. 41, n. 7, p. 1185, doi. 10.1002/humu.23811
Publication type:: Article