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
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
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
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