Works matching IS 10597794 AND DT 2016 AND VI 37 AND IP 7

Results: 14

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.

Published in:

Human Mutation, 2016, v. 37, n. 7, p. 703, doi. 10.1002/humu.23000

By:

Günther, Sven;
Elert‐Dobkowska, Ewelina;
Soehn, Anne S.;
Hinreiner, Sophie;
Yoon, Grace;
Heller, Raoul;
Hellenbroich, Yorck;
Hübner, Christian A.;
Ray, Peter N.;
Hehr, Ute;
Bauer, Peter;
Sulek, Anna;
Beetz, Christian

Publication type:

Article

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.

Published in:

Human Mutation, 2016, v. 37, n. 7, p. 627, doi. 10.1002/humu.22973

By:

Vallée, Maxime P.;
Sera, Tonya L.;
Nix, David A.;
Paquette, Andrew M.;
Parsons, Michael T.;
Bell, Russel;
Hoffman, Andrea;
Hogervorst, Frans B. L.;
Goldgar, David E.;
Spurdle, Amanda B.;
Tavtigian, Sean V.

Publication type:

Article

Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.

Published in:

Human Mutation, 2016, v. 37, n. 7, p. 640, doi. 10.1002/humu.22972

By:

Caminsky, Natasha G.;
Mucaki, Eliseos J.;
Perri, Ami M.;
Lu, Ruipeng;
Knoll, Joan H. M.;
Rogan, Peter K.

Publication type:

Article

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

Published in:

Human Mutation, 2016, v. 37, n. 7, p. 710, doi. 10.1002/humu.22991

By:

Lukas, Jan;
Scalia, Simone;
Eichler, Sabrina;
Pockrandt, Anne‐Marie;
Dehn, Nicole;
Cozma, Claudia;
Giese, Anne‐Katrin;
Rolfs, Arndt

Publication type:

Article

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Published in:

Human Mutation, 2016, v. 37, n. 7, p. 653, doi. 10.1002/humu.22983

By:

Ng, Bobby G.;
Shiryaev, Sergey A.;
Rymen, Daisy;
Eklund, Erik A.;
Raymond, Kimiyo;
Kircher, Martin;
Abdenur, Jose E.;
Alehan, Fusun;
Midro, Alina T.;
Bamshad, Michael J.;
Barone, Rita;
Berry, Gerard T.;
Brumbaugh, Jane E.;
Buckingham, Kati J.;
Clarkson, Katie;
Cole, F. Sessions;
O'Connor, Shawn;
Cooper, Gregory M.;
Coster, Rudy;
Demmer, Laurie A.

Publication type:

Article

Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase.

Published in:

Human Mutation, 2016, v. 37, n. 7, p. 623, doi. 10.1002/humu.22993

By:

Meel, Eline;
Kornfeld, Stuart

Publication type:

Article

Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.

Published in:

Human Mutation, 2016, v. 37, n. 7, p. 679, doi. 10.1002/humu.22995

By:

Sancho‐Vaello, Enea;
Marco‐Marín, Clara;
Gougeard, Nadine;
Fernández‐Murga, Leonor;
Rüfenacht, Véronique;
Mustedanagic, Merima;
Rubio, Vicente;
Häberle, Johannes

Publication type:

Article

Complex Copy Number Variation of AMY1 does not Associate with Obesity in two East Asian Cohorts.

Published in:

Human Mutation, 2016, v. 37, n. 7, p. 669, doi. 10.1002/humu.22996

By:

Yong, Rita Y.Y.;
Mustaffa, Su'Aidah B.;
Wasan, Pavandip S.;
Sheng, Liang;
Marshall, Christian R.;
Scherer, Stephen W.;
Teo, Yik‐Ying;
Yap, Eric P.H.

Publication type:

Article

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.

Published in:

Human Mutation, 2016, v. 37, n. 7, p. 711, doi. 10.1002/humu.22997

By:

Filges, Isabel;
Bruder, Elisabeth;
Brandal, Kristin;
Meier, Stephanie;
Undlien, Dag Erik;
Waage, Trine Rygvold;
Hoesli, Irene;
Schubach, Max;
Beer, Tjaart;
Sheng, Ying;
Hoeller, Sylvia;
Schulzke, Sven;
Røsby, Oddveig;
Miny, Peter;
Tercanli, Sevgi;
Oppedal, Truls;
Meyer, Peter;
Selmer, Kaja Kristine;
Strømme, Petter

Publication type:

Article

Cover Image, Volume 37, Issue 7.

Published in:: Human Mutation, 2016, v. 37, n. 7, p. NA, doi. 10.1002/humu.23020
Publication type:: Article

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

Published in:

Human Mutation, 2016, v. 37, n. 7, p. 695, doi. 10.1002/humu.22994

By:

McInerney‐Leo, Aideen M.;
Harris, Jessica E.;
Gattas, Michael;
Peach, Elizabeth E.;
Sinnott, Stephen;
Dudding‐Byth, Tracy;
Rajagopalan, Sulekha;
Barnett, Christopher P.;
Anderson, Lisa K.;
Wheeler, Lawrie;
Brown, Matthew A.;
Leo, Paul J.;
Wicking, Carol;
Duncan, Emma L.

Publication type:

Article

A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains.

Published in:

Human Mutation, 2016, v. 37, n. 7, p. 661, doi. 10.1002/humu.22984

By:

Masset, Heleen;
Hestand, Matthew S.;
Esch, Hilde;
Kleinfinger, Pascale;
Plaisancié, Julie;
Afenjar, Alexandra;
Molignier, Romain;
Schluth‐Bolard, Caroline;
Sanlaville, Damien;
Vermeesch, Joris R.

Publication type:

Article

Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity.

Published in:

2016

By:

Thompson, Miles D.;
Cole, David E.

Publication type:

Other

Issue Information.

Published in:: Human Mutation, 2016, v. 37, n. 7, p. 617, doi. 10.1002/humu.22881
Publication type:: Article