Works matching IS 10597794 AND DT 2015 AND VI 36 AND IP 1

Results: 22

Contents.

Published in:: 2015
Publication type:: Other

Whole-Exome Sequencing Identifies a Variant in TMEM132 E Causing Autosomal-Recessive Nonsyndromic Hearing Loss DFNB99.

Published in:

Human Mutation, 2015, v. 36, n. 1, p. 98, doi. 10.1002/humu.22712

By:

Li, Jiangxia;
Zhao, Xiaohan;
Xin, Qian;
Shan, Shan;
Jiang, Baichun;
Jin, Yecheng;
Yuan, Huijun;
Dai, Pu;
Xiao, Ruo;
Zhang, Qingyan;
Xiao, Jingjing;
Shao, Changshun;
Gong, Yaoqin;
Liu, Qiji

Publication type:

Article

WGS and targetted sequencing in acute lymphoblastic leukemia identifies putative enhancer mutation associated with over-expression of a growth factor.

Published in:

2015

By:

Chenevix‐Trench, Georgia

Publication type:

Other

Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability.

Published in:

Human Mutation, 2015, v. 36, n. 1, p. 48, doi. 10.1002/humu.22691

By:

Donkervoort, Sandra;
Hu, Ying;
Stojkovic, Tanya;
Voermans, Nicol C.;
Foley, A. Reghan;
Leach, Meganne E.;
Dastgir, Jahannaz;
Bolduc, Véronique;
Cullup, Thomas;
Becdelièvre, Alix;
Yang, Lin;
Su, Hai;
Meilleur, Katherine;
Schindler, Alice B.;
Kamsteeg, Erik‐Jan;
Richard, Pascale;
Butterfield, Russell J.;
Winder, Thomas L.;
Crawford, Thomas O.;
Weiss, Robert B.

Publication type:

Article

GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders.

Published in:

Human Mutation, 2015, v. 36, n. 1, p. 11, doi. 10.1002/humu.22696

By:

Lemos, Manuel C.;
Thakker, Rajesh V.

Publication type:

Article

Regulation of body and brain size: role of MAP4 and other centrosomal proteins.

Published in:

2015

By:

Mortier, Geert R.

Publication type:

Other

MAP4-Dependent Regulation of Microtubule Formation Affects Centrosome, Cilia, and Golgi Architecture as a Central Mechanism in Growth Regulation.

Published in:

Human Mutation, 2015, v. 36, n. 1, p. 87, doi. 10.1002/humu.22711

By:

Zahnleiter, Diana;
Hauer, Nadine N.;
Kessler, Kristin;
Uebe, Steffen;
Sugano, Yuya;
Neuhauss, Stephan C.F.;
Giessl, Andreas;
Ekici, Arif B.;
Blessing, Holger;
Sticht, Heinrich;
Dörr, Helmuth‐Günther;
Reis, André;
Thiel, Christian T.

Publication type:

Article

Novel SLC5 A2 Variants Contribute to Renal Glucosuria in Chinese Families: Abnormal Expression and Dysfunction of Variant SLC5 A2.

Published in:

Human Mutation, 2015, v. 36, n. 1, p. 79, doi. 10.1002/humu.22714

By:

Yu, Lei;
Hou, Ping;
Lv, Ji‐Cheng;
Liu, Guo‐Ping;
Zhang, Hong

Publication type:

Article

Simultaneous Analysis of Hundreds of Y-Chromosomal SNPs for High-Resolution Paternal Lineage Classification using Targeted Semiconductor Sequencing.

Published in:

Human Mutation, 2015, v. 36, n. 1, p. 151, doi. 10.1002/humu.22713

By:

Ralf, Arwin;
Oven, Mannis;
Zhong, Kaiyin;
Kayser, Manfred

Publication type:

Article

An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients.

Published in:

Human Mutation, 2015, v. 36, n. 1, p. 39, doi. 10.1002/humu.22716

By:

Bauwens, Miriam;
De Zaeytijd, Julie;
Weisschuh, Nicole;
Kohl, Susanne;
Meire, Françoise;
Dahan, Karin;
Depasse, Fanny;
De Jaegere, Sarah;
De Ravel, Thomy;
De Rademaeker, Marjan;
Loeys, Bart;
Coppieters, Frauke;
Leroy, Bart P.;
De Baere, Elfride

Publication type:

Article

Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy.

Published in:

Human Mutation, 2015, v. 36, n. 1, p. 34, doi. 10.1002/humu.22715

By:

Baertling, Fabian;
van den Brand, Mariel;
Hertecant, Jozef L.;
Al‐Shamsi, Aisha;
van den Heuvel, Lambert;
Distelmaier, Felix;
Mayatepek, Ertan;
Smeitink, Jan A.;
Nijtmans, Leo G.J.;
Rodenburg, Richard J.T.

Publication type:

Article

Heterozygous Deep-Intronic Variants and Deletions in ABCA4 in Persons with Retinal Dystrophies and One Exonic ABCA4 Variant.

Published in:

Human Mutation, 2015, v. 36, n. 1, p. 43, doi. 10.1002/humu.22717

By:

Bax, Nathalie M.;
Sangermano, Riccardo;
Roosing, Susanne;
Thiadens, Alberta A.H.J.;
Hoefsloot, Lies H.;
den Born, L. Ingeborgh;
Phan, Milan;
Klevering, B. Jeroen;
Westeneng‐van Haaften, Carla;
Braun, Terry A.;
Zonneveld‐Vrieling, Marijke N.;
Wijs, Ilse;
Mutlu, Merve;
Stone, Edwin M.;
den Hollander, Anneke I.;
Klaver, Caroline C.W.;
Hoyng, Carel B.;
Cremers, Frans P.M.

Publication type:

Article

Variants in CUL4B are Associated with Cerebral Malformations.

Published in:

Human Mutation, 2015, v. 36, n. 1, p. 106, doi. 10.1002/humu.22718

By:

Vulto‐van Silfhout, Anneke T.;
Nakagawa, Tadashi;
Bahi‐Buisson, Nadia;
Haas, Stefan A.;
Hu, Hao;
Bienek, Melanie;
Vissers, Lisenka E.L.M.;
Gilissen, Christian;
Tzschach, Andreas;
Busche, Andreas;
Müsebeck, Jörg;
Rump, Patrick;
Mathijssen, Inge B.;
Avela, Kristiina;
Somer, Mirja;
Doagu, Fatma;
Philips, Anju K.;
Rauch, Anita;
Baumer, Alessandra;
Voesenek, Krysta

Publication type:

Article

The Mutational Landscape in Pediatric Acute Lymphoblastic Leukemia Deciphered by Whole Genome Sequencing.

Published in:

Human Mutation, 2015, v. 36, n. 1, p. 118, doi. 10.1002/humu.22719

By:

Lindqvist, Carl Mårten;
Nordlund, Jessica;
Ekman, Diana;
Johansson, Anna;
Moghadam, Behrooz Torabi;
Raine, Amanda;
Övernäs, Elin;
Dahlberg, Johan;
Wahlberg, Per;
Henriksson, Niklas;
Abrahamsson, Jonas;
Frost, Britt‐Marie;
Grandér, Dan;
Heyman, Mats;
Larsson, Rolf;
Palle, Josefine;
Söderhäll, Stefan;
Forestier, Erik;
Lönnerholm, Gudmar;
Syvänen, Ann‐Christine

Publication type:

Article

Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics.

Published in:

Human Mutation, 2015, v. 36, n. 1, p. 26, doi. 10.1002/humu.22685

By:

Braunholz, Diana;
Obieglo, Carolin;
Parenti, Ilaria;
Pozojevic, Jelena;
Eckhold, Juliane;
Reiz, Benedikt;
Brænne, Ingrid;
Wendt, Kerstin S.;
Watrin, Erwan;
Vodopiutz, Julia;
Rieder, Harald;
Gillessen‐Kaesbach, Gabriele;
Kaiser, Frank J.

Publication type:

Article

Disruption of the SEMA3 D Gene in a Patient with Congenital Heart Defects.

Published in:

Human Mutation, 2015, v. 36, n. 1, p. 30, doi. 10.1002/humu.22702

By:

Sanchez‐Castro, Marta;
Pichon, Olivier;
Briand, Annaig;
Poulain, Damien;
Gournay, Véronique;
David, Albert;
Caignec, Cédric Le

Publication type:

Article

Improved Locus-Specific Database for OPA1 Mutations Allows Inclusion of Advanced Clinical Data.

Published in:

Human Mutation, 2015, v. 36, n. 1, p. 20, doi. 10.1002/humu.22703

By:

Ferré, Marc;
Caignard, Angélique;
Milea, Dan;
Leruez, Stéphanie;
Cassereau, Julien;
Chevrollier, Arnaud;
Amati‐Bonneau, Patrizia;
Verny, Christophe;
Bonneau, Dominique;
Procaccio, Vincent;
Reynier, Pascal

Publication type:

Article

Clinical Applications and Implications of Common and Founder Mutations in Indian Subpopulations.

Published in:

Human Mutation, 2015, v. 36, n. 1, p. 1, doi. 10.1002/humu.22704

By:

Ankala, Arunkanth;
Tamhankar, Parag M.;
Valencia, C. Alexander;
Rayam, Krishna K.;
Kumar, Manisha M.;
Hegde, Madhuri R.

Publication type:

Article

Identification and Characterization of Aberrant GAA Pre-m RNA Splicing in Pompe Disease Using a Generic Approach.

Published in:

Human Mutation, 2015, v. 36, n. 1, p. 57, doi. 10.1002/humu.22705

By:

Bergsma, Atze J.;
Kroos, Marian;
Hoogeveen‐Westerveld, Marianne;
Halley, Dicky;
Ploeg, Ans T.;
Pijnappel, W. W.

Publication type:

Article

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy.

Published in:

Human Mutation, 2015, v. 36, n. 1, p. 69, doi. 10.1002/humu.22709

By:

Lee, Jae‐Ran;
Srour, Myriam;
Kim, Doyoun;
Hamdan, Fadi. F.;
Lim, So‐Hee;
Brunel‐Guitton, Catherine;
Décarie, Jean‐Claude;
Rossignol, Elsa;
Mitchell, Grant A.;
Schreiber, Allison;
Moran, Rocio;
Haren, Keith;
Richardson, Randal;
Nicolai, Joost;
Oberndorff, Karin M.E.J.;
Wagner, Justin D.;
Boycott, Kym M.;
Rahikkala, Elisa;
Junna, Nella;
Tyynismaa, Henna

Publication type:

Article

Next Generation Sequencing Identifies a Novel Rearrangement in the HBB Cluster Permitting to-the-Base Characterization.

Published in:

Human Mutation, 2015, v. 36, n. 1, p. 142, doi. 10.1002/humu.22707

By:

Shooter, Claire;
Rooks, Helen;
Thein, Swee Lay;
Clark, Barnaby

Publication type:

Article

Functional Characterization and Classification of Frequent Low-Density Lipoprotein Receptor Variants.

Published in:

Human Mutation, 2015, v. 36, n. 1, p. 129, doi. 10.1002/humu.22721

By:

Etxebarria, Aitor;
Benito‐Vicente, Asier;
Palacios, Lourdes;
Stef, Marianne;
Cenarro, Ana;
Civeira, Fernando;
Ostolaza, Helena;
Martin, Cesar

Publication type:

Article