Works matching IS 10597794 AND DT 2015 AND VI 36 AND IP 6

Results: 14

Differential Dimerization of Variants Linked to Enhanced S-Cone Sensitivity Syndrome (ESCS) Located in the NR2E3 Ligand-Binding Domain.

Published in:

Human Mutation, 2015, v. 36, n. 6, p. 599, doi. 10.1002/humu.22775

By:

Alpen, Désirée;
Tran, Hoai Viet;
Guex, Nicolas;
Venturini, Giulia;
Munier, Francis L.;
Schorderet, Daniel F.;
Haider, Neena B.;
Escher, Pascal

Publication type:

Article

Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients.

Published in:

Human Mutation, 2015, v. 36, n. 6, p. 611, doi. 10.1002/humu.22779

By:

Burda, Patricie;
Schäfer, Alexandra;
Suormala, Terttu;
Rummel, Till;
Bürer, Céline;
Heuberger, Dorothea;
Frapolli, Michele;
Giunta, Cecilia;
Sokolová, Jitka;
Vlášková, Hana;
Kožich, Viktor;
Koch, Hans Georg;
Fowler, Brian;
Froese, D. Sean;
Baumgartner, Matthias R.

Publication type:

Article

Getting It Right with Lynch Syndrome Genetic and Phenotypic Diagnosis.

Published in:

2015

By:

Frayling, Ian M.

Publication type:

Other

Contents.

Published in:: 2015
Publication type:: Other

Loss of Function Variants in Human PNPLA8 Encoding Calcium-Independent Phospholipase A<sub>2</sub>γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse.

Published in:

Human Mutation, 2015, v. 36, n. 6, p. 656, doi. 10.1002/humu.22790

By:

Saunders, Carol J.;
Moon, Sung Ho;
Liu, Xinping;
Thiffault, Isabelle;
Coffman, Keith;
LePichon, Jean‐Baptiste;
Taboada, Eugenio;
Smith, Laurie D.;
Farrow, Emily G.;
Miller, Neil;
Gibson, Margaret;
Patterson, Melanie;
Kingsmore, Stephen F.;
Gross, Richard W.

Publication type:

Article

Characterization of All Possible Single-Nucleotide Change Caused Amino Acid Substitutions in the Kinase Domain of Bruton Tyrosine Kinase.

Published in:

Human Mutation, 2015, v. 36, n. 6, p. 638, doi. 10.1002/humu.22791

By:

Väliaho, Jouni;
Faisal, Imrul;
Ortutay, Csaba;
Smith, C. I. Edvard;
Vihinen, Mauno

Publication type:

Article

DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.

Published in:

Human Mutation, 2015, v. 36, n. 6, p. 593, doi. 10.1002/humu.22795

By:

Sukalo, Maja;
Tilsen, Felix;
Kayserili, Hülya;
Müller, Dietmar;
Tüysüz, Beyhan;
Ruddy, Deborah M.;
Wakeling, Emma;
Ørstavik, Karen Helene;
Snape, Katie M.;
Trembath, Richard;
Smedt, Maryse;
Aa, Nathalie;
Skalej, Martin;
Mundlos, Stefan;
Wuyts, Wim;
Southgate, Laura;
Zenker, Martin

Publication type:

Article

A Mitochondrial Translation Defect Identified by Whole-Exome Sequencing Expands the Phenotypic Spectrum for MARS2.

Published in:

2015

By:

Wangler, Michael;
Bayat, Vafa;
Bellen, Hugo

Publication type:

Other

Novel, Compound Heterozygous, Single-Nucleotide Variants in MARS2 Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss.

Published in:

Human Mutation, 2015, v. 36, n. 6, p. 587, doi. 10.1002/humu.22781

By:

Webb, Bryn D.;
Wheeler, Patricia G.;
Hagen, Jacob J.;
Cohen, Ninette;
Linderman, Michael D.;
Diaz, George A.;
Naidich, Thomas P.;
Rodenburg, Richard J.;
Houten, Sander M.;
Schadt, Eric E.

Publication type:

Article

The SCN1A Mutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype.

Published in:

Human Mutation, 2015, v. 36, n. 6, p. 573, doi. 10.1002/humu.22782

By:

Meng, Heng;
Xu, Hai‐Qing;
Yu, Lu;
Lin, Guo‐Wang;
He, Na;
Su, Tao;
Shi, Yi‐Wu;
Li, Bin;
Wang, Jie;
Liu, Xiao‐Rong;
Tang, Bin;
Long, Yue‐Sheng;
Yi, Yong‐Hong;
Liao, Wei‐Ping

Publication type:

Article

Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?

Published in:

Human Mutation, 2015, v. 36, n. 6, p. 648, doi. 10.1002/humu.22783

By:

Sun, Yu;
Ruivenkamp, Claudia A.L.;
Hoffer, Mariëtte J.V.;
Vrijenhoek, Terry;
Kriek, Marjolein;
Asperen, Christi J.;
Dunnen, Johan T.;
Santen, Gijs W.E.

Publication type:

Article

Lynch Syndrome Associated with Two MLH1 Promoter Variants and Allelic Imbalance of MLH1 Expression.

Published in:

Human Mutation, 2015, v. 36, n. 6, p. 622, doi. 10.1002/humu.22785

By:

Hesson, Luke B.;
Packham, Deborah;
Kwok, Chau‐To;
Nunez, Andrea C.;
Ng, Benedict;
Schmidt, Christa;
Fields, Michael;
Wong, Jason W.H.;
Sloane, Mathew A.;
Ward, Robyn L.

Publication type:

Article

Heterozygous Deletion of FOXA2 Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia.

Published in:

Human Mutation, 2015, v. 36, n. 6, p. 631, doi. 10.1002/humu.22786

By:

Tsai, Ellen A.;
Grochowski, Christopher M.;
Falsey, Alexandra M.;
Rajagopalan, Ramakrishnan;
Wendel, Danielle;
Devoto, Marcella;
Krantz, Ian D.;
Loomes, Kathleen M.;
Spinner, Nancy B.

Publication type:

Article

amamutdb.no: A Relational Database for MAN2B1 Allelic Variants that Compiles Genotypes, Clinical Phenotypes, and Biochemical and Structural Data of Mutant MAN2B1 in α-Mannosidosis.

Published in:

Human Mutation, 2015, v. 36, n. 6, p. 581, doi. 10.1002/humu.22787

By:

Riise Stensland, Hilde Monica Frostad;
Frantzen, Gabrio;
Kuokkanen, Elina;
Buvang, Elisabeth Kjeldsen;
Klenow, Helle Bagterp;
Heikinheimo, Pirkko;
Malm, Dag;
Nilssen, Øivind

Publication type:

Article