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

Results: 13

Contents.
Published in:
2015
Publication type:
Other
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
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
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
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
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
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