Works matching IS 10597794 AND DT 2015 AND VI 36 AND IP 7

Results: 13

15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.

Published in:

Human Mutation, 2015, v. 36, n. 7, p. 689, doi. 10.1002/humu.22800

By:

Noor, Abdul;
Dupuis, Lucie;
Mittal, Kirti;
Lionel, Anath C.;
Marshall, Christian R.;
Scherer, Stephen W.;
Stockley, Tracy;
Vincent, John B.;
Mendoza‐Londono, Roberto;
Stavropoulos, Dimitri J.

Publication type:

Article

McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.

Published in:

Human Mutation, 2015, v. 36, n. 7, p. 669, doi. 10.1002/humu.22806

By:

Nogales‐Gadea, Gisela;
Brull, Astrid;
Santalla, Alfredo;
Andreu, Antoni L.;
Arenas, Joaquin;
Martín, Miguel A.;
Lucia, Alejandro;
Luna, Noemi;
Pinós, Tomàs

Publication type:

Article

A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).

Published in:

Human Mutation, 2015, v. 36, n. 7, p. 720, doi. 10.1002/humu.22807

By:

Pattnaik, Bikash R.;
Shahi, Pawan K.;
Marino, Meghan J.;
Liu, Xinying;
York, Nathaniel;
Brar, Simran;
Chiang, John;
Pillers, De‐Ann M.;
Traboulsi, Elias I.

Publication type:

Article

15q Maternal Duplication and Neurodevelopmental Disorders; UBE3A is the Key.

Published in:

2015

By:

Isles, Anthony R.

Publication type:

Other

Contents.

Published in:: 2015
Publication type:: Other

Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome.

Published in:

Human Mutation, 2015, v. 36, n. 7, p. 679, doi. 10.1002/humu.22792

By:

Lemmers, Richard J. L. F.;
Boogaard, Marlinde L.;
Vliet, Patrick J.;
Donlin‐Smith, Colleen M.;
Nations, Sharon P.;
Ruivenkamp, Claudia A. L.;
Heard, Patricia;
Bakker, Bert;
Tapscott, Stephen;
Cody, Jannine D.;
Tawil, Rabi;
Maarel, Silvère M.

Publication type:

Article

LMNA Mutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging.

Published in:

Human Mutation, 2015, v. 36, n. 7, p. 694, doi. 10.1002/humu.22793

By:

Alastalo, Tero‐Pekka;
West, Gun;
Li, Song‐Ping;
Keinänen, Anni;
Helenius, Mikko;
Tyni, Tiina;
Lapatto, Risto;
Turanlahti, Maila;
Heikkilä, Päivi;
Kääriäinen, Helena;
Laakso, Markku;
Mauermann, Monika;
Herrmann, Harald;
Pihkala, Jaana;
Taimen, Pekka

Publication type:

Article

Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia Coli Strain.

Published in:

Human Mutation, 2015, v. 36, n. 7, p. 704, doi. 10.1002/humu.22794

By:

Komine, Keigo;
Shimodaira, Hideki;
Takao, Masashi;
Soeda, Hiroshi;
Zhang, Xiaofei;
Takahashi, Masanobu;
Ishioka, Chikashi

Publication type:

Article

Alström Syndrome: Mutation Spectrum of ALMS1.

Published in:

Human Mutation, 2015, v. 36, n. 7, p. 660, doi. 10.1002/humu.22796

By:

Marshall, Jan D.;
Muller, Jean;
Collin, Gayle B.;
Milan, Gabriella;
Kingsmore, Stephen F.;
Dinwiddie, Darrell;
Farrow, Emily G.;
Miller, Neil A.;
Favaretto, Francesca;
Maffei, Pietro;
Dollfus, Hélène;
Vettor, Roberto;
Naggert, Jürgen K.

Publication type:

Article

Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.

Published in:

Human Mutation, 2015, v. 36, n. 7, p. 712, doi. 10.1002/humu.22798

By:

Velde, K. Joeri;
Kuiper, Joël;
Thompson, Bryony A.;
Plazzer, John‐Paul;
Valkenhoef, Gert;
Haan, Mark;
Jongbloed, Jan D.H.;
Wijmenga, Cisca;
Koning, Tom J.;
Abbott, Kristin M.;
Sinke, Richard;
Spurdle, Amanda B.;
Macrae, Finlay;
Genuardi, Maurizio;
Sijmons, Rolf H.;
Swertz, Morris A.

Publication type:

Article

Further Confirmation of Germline Glioma Risk Variant rs78378222 in TP53 and Its Implication in Tumor Tissues via Integrative Analysis of TCGA Data.

Published in:

Human Mutation, 2015, v. 36, n. 7, p. 684, doi. 10.1002/humu.22799

By:

Wang, Zhaoming;
Rajaraman, Preetha;
Melin, Beatrice S.;
Chung, Charles C.;
Zhang, Weijia;
McKean‐Cowdin, Roberta;
Michaud, Dominique;
Yeager, Meredith;
Ahlbom, Anders;
Albanes, Demetrius;
Andersson, Ulrika;
Freeman, Laura E. Beane;
Buring, Julie E.;
Butler, Mary Ann;
Carreón, Tania;
Feychting, Maria;
Gapstur, Susan M.;
Gaziano, J. Michael;
Giles, Graham G.;
Hallmans, Goran

Publication type:

Article

The DNA Bank: High-Security Bank Accounts to Protect and Share Your Genetic Identity.

Published in:

Human Mutation, 2015, v. 36, n. 7, p. 657, doi. 10.1002/humu.22810

By:

Dunnen, Johan T.

Publication type:

Article

Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen.

Published in:

Human Mutation, 2015, v. 36, n. 7, p. 728, doi. 10.1002/humu.22812

By:

Schleit, Jennifer;
Bailey, Samuel S.;
Tran, Thao;
Chen, Diana;
Stowers, Susan;
Schwarze, Ulrike;
Byers, Peter H.

Publication type:

Article