Works matching IS 10597794 AND DT 2018 AND VI 39 AND IP 4

Results: 12

Cover Image, Volume 39, Issue 4.

Published in:

Human Mutation, 2018, v. 39, n. 4, p. i, doi. 10.1002/humu.23414

By:

Anand, Deepti;
Agrawal, Smriti A.;
Slavotinek, Anne;
Lachke, Salil A.

Publication type:

Article

Somatic mutations activating Wiskott–Aldrich syndrome protein concomitant with RAS pathway mutations in juvenile myelomonocytic leukemia patients.

Published in:

Human Mutation, 2018, v. 39, n. 4, p. 579, doi. 10.1002/humu.23399

By:

Coppe, Alessandro;
Nogara, Leonardo;
Pizzuto, Matteo Samuele;
Cani, Alice;
Cesaro, Simone;
Masetti, Riccardo;
Locatelli, Franco;
te Kronnie, Geertruy;
Basso, Giuseppe;
Bortoluzzi, Stefania;
Bresolin, Silvia

Publication type:

Article

Thorough in silico and in vitro cDNA analysis of 21 putative <italic>BRCA1</italic> and <italic>BRCA2</italic> splice variants and a complex tandem duplication in <italic>BRCA2</italic> allowing the identification of activated cryptic splice donor sites in <italic>BRCA2</italic> exon 11

Published in:

Human Mutation, 2018, v. 39, n. 4, p. 515, doi. 10.1002/humu.23390

By:

Baert, Annelot;
Machackova, Eva;
Coene, Ilse;
Cremin, Carol;
Turner, Kristin;
Portigal‐Todd, Cheryl;
Asrat, Marie Jill;
Nuk, Jennifer;
Mindlin, Allison;
Young, Sean;
MacMillan, Andree;
Van Maerken, Tom;
Trbusek, Martin;
McKinnon, Wendy;
Wood, Marie E.;
Foulkes, William D.;
Santamariña, Marta;
de la Hoya, Miguel;
Foretova, Lenka;
Poppe, Bruce

Publication type:

Article

Genetic contribution of retinoid‐related genes to neural tube defects.

Published in:

Human Mutation, 2018, v. 39, n. 4, p. 550, doi. 10.1002/humu.23397

By:

Li, Huili;
Zhang, Jing;
Chen, Shuyuan;
Wang, Fang;
Zhang, Ting;
Niswander, Lee

Publication type:

Article

Loss‐of‐function mutations in <italic>ISCA2</italic> disrupt 4Fe–4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.

Published in:

Human Mutation, 2018, v. 39, n. 4, p. 537, doi. 10.1002/humu.23396

By:

Alaimo, Joseph T.;
Besse, Arnaud;
Alston, Charlotte L.;
Pang, Ki;
Appadurai, Vivek;
Samanta, Monisha;
Smpokou, Patroula;
McFarland, Robert;
Taylor, Robert W.;
Bonnen, Penelope E.

Publication type:

Article

Mutation update of transcription factor genes <italic>FOXE3</italic>, <italic>HSF4</italic>, <italic>MAF</italic>, and <italic>PITX3</italic> causing cataracts and other developmental ocular defects.

Published in:

Human Mutation, 2018, v. 39, n. 4, p. 471, doi. 10.1002/humu.23395

By:

Anand, Deepti;
Agrawal, Smriti A.;
Slavotinek, Anne;
Lachke, Salil A.

Publication type:

Article

Disease‐causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene.

Published in:

Human Mutation, 2018, v. 39, n. 4, p. 527, doi. 10.1002/humu.23394

By:

Jang, Yoon J.;
LaBella, Abigail L.;
Feeney, Timothy P.;
Braverman, Nancy;
Tuchman, Mendel;
Morizono, Hiroki;
Ah Mew, Nicholas;
Caldovic, Ljubica

Publication type:

Article

Clinical, biochemical, and genetic features associated with <italic>VARS2</italic>‐related mitochondrial disease.

Published in:

Human Mutation, 2018, v. 39, n. 4, p. 563, doi. 10.1002/humu.23398

By:

Bruni, Francesco;
Di Meo, Ivano;
Bellacchio, Emanuele;
Webb, Bryn D.;
McFarland, Robert;
Chrzanowska‐Lightowlers, Zofia M. A.;
He, Langping;
Skorupa, Ewa;
Moroni, Isabella;
Ardissone, Anna;
Walczak, Anna;
Tyynismaa, Henna;
Isohanni, Pirjo;
Mandel, Hanna;
Prokisch, Holger;
Haack, Tobias;
Bonnen, Penelope E.;
Enrico, Bertini;
Pronicka, Ewa;
Ghezzi, Daniele

Publication type:

Article

<italic>Cis</italic> variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules.

Published in:

Human Mutation, 2018, v. 39, n. 4, p. 506, doi. 10.1002/humu.23389

By:

Baatallah, Nesrine;
Bitam, Sara;
Martin, Natacha;
Servel, Nathalie;
Costes, Bruno;
Mekki, Chadia;
Chevalier, Benoit;
Pranke, Iwona;
Simonin, Juliette;
Girodon, Emmanuelle;
Hoffmann, Brice;
Mornon, Jean‐Paul;
Callebaut, Isabelle;
Sermet‐Gaudelus, Isabelle;
Fanen, Pascale;
Edelman, Aleksander;
Hinzpeter, Alexandre

Publication type:

Article

Targeted copy number screening highlights an intragenic deletion of <italic>WDR63</italic> as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish.

Published in:

Human Mutation, 2018, v. 39, n. 4, p. 495, doi. 10.1002/humu.23388

By:

Hofmeister, Wolfgang;
Pettersson, Maria;
Kurtoglu, Deniz;
Armenio, Miriam;
Eisfeldt, Jesper;
Papadogiannakis, Nikos;
Gustavsson, Peter;
Lindstrand, Anna

Publication type:

Article

<italic>MPV17</italic>‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

Published in:

Human Mutation, 2018, v. 39, n. 4, p. 461, doi. 10.1002/humu.23387

By:

El‐Hattab, Ayman W.;
Wang, Julia;
Dai, Hongzheng;
Almannai, Mohammed;
Staufner, Christian;
Alfadhel, Majid;
Gambello, Michael J.;
Prasun, Pankaj;
Raza, Saleem;
Lyons, Hernando J.;
Afqi, Manal;
Saleh, Mohammed A. M.;
Faqeih, Eissa A.;
Alzaidan, Hamad I.;
Alshenqiti, Abduljabbar;
Flore, Leigh Anne;
Hertecant, Jozef;
Sacharow, Stephanie;
Barbouth, Deborah S.;
Murayama, Kei

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2018, v. 39, n. 4, p. 459, doi. 10.1002/humu.23325
Publication type:: Article