Works matching IS 10597794 AND DT 2014 AND VI 35 AND IP 8

Results: 19

Mutation Update for GNE Gene Variants Associated with GNE Myopathy.

Published in:

Human Mutation, 2014, v. 35, n. 8, p. 915, doi. 10.1002/humu.22583

By:

Celeste, Frank V.;
Vilboux, Thierry;
Ciccone, Carla;
Dios, John Karl;
Malicdan, May Christine V.;
Leoyklang, Petcharat;
McKew, John C.;
Gahl, William A.;
Carrillo‐Carrasco, Nuria;
Huizing, Marjan

Publication type:

Article

Genetic Variations and Diseases in UniProtKB/Swiss-Prot: The Ins and Outs of Expert Manual Curation.

Published in:

Human Mutation, 2014, v. 35, n. 8, p. 927, doi. 10.1002/humu.22594

By:

Famiglietti, Maria Livia;
Estreicher, Anne;
Gos, Arnaud;
Bolleman, Jerven;
Géhant, Sébastien;
Breuza, Lionel;
Bridge, Alan;
Poux, Sylvain;
Redaschi, Nicole;
Bougueleret, Lydie;
Xenarios, Ioannis

Publication type:

Article

Majority Vote and Other Problems when using Computational Tools.

Published in:

Human Mutation, 2014, v. 35, n. 8, p. 912, doi. 10.1002/humu.22600

By:

Vihinen, Mauno

Publication type:

Article

Contents.

Published in:: 2014
Publication type:: Other

Deciphering the cis-Regulatory Landscape of SOX9 Implicated in Craniofacial Development and Isolated Pierre Robin Sequence.

Published in:

2014

By:

Baere, Elfride

Publication type:

Other

The Challenge for the Next Generation of Medical Geneticists.

Published in:

Human Mutation, 2014, v. 35, n. 8, p. 909, doi. 10.1002/humu.22592

By:

Frebourg, Thierry

Publication type:

Article

A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly.

Published in:

Human Mutation, 2014, v. 35, n. 8, p. 959, doi. 10.1002/humu.22597

By:

Makrythanasis, Periklis;
Temtamy, Samia;
Aglan, Mona S.;
Otaify, Ghada A.;
Hamamy, Hanan;
Antonarakis, Stylianos E.

Publication type:

Article

A Novel ZRS Mutation Leads to Preaxial Polydactyly Type 2 in a Heterozygous Form and Werner Mesomelic Syndrome in a Homozygous Form.

Published in:

Human Mutation, 2014, v. 35, n. 8, p. 945, doi. 10.1002/humu.22581

By:

VanderMeer, Julia E.;
Lozano, Reymundo;
Sun, Miao;
Xue, Yuan;
Daentl, Donna;
Jabs, Ethylin Wang;
Wilcox, William R.;
Ahituv, Nadav

Publication type:

Article

Reducing False-Positive Incidental Findings with Ensemble Genotyping and Logistic Regression Based Variant Filtering Methods.

Published in:

Human Mutation, 2014, v. 35, n. 8, p. 936, doi. 10.1002/humu.22587

By:

Hwang, Kyu‐Baek;
Lee, In‐Hee;
Park, Jin‐Ho;
Hambuch, Tina;
Choe, Yongjoon;
Kim, MinHyeok;
Lee, Kyungjoon;
Song, Taemin;
Neu, Matthew B.;
Gupta, Neha;
Kohane, Isaac S.;
Green, Robert C.;
Kong, Sek Won

Publication type:

Article

Genetic Screening and Functional Characterization of PDGFRB Mutations Associated with Basal Ganglia Calcification of Unknown Etiology.

Published in:

Human Mutation, 2014, v. 35, n. 8, p. 964, doi. 10.1002/humu.22582

By:

Sanchez‐Contreras, Monica;
Baker, Matthew C.;
Finch, NiCole A.;
Nicholson, Alexandra;
Wojtas, Aleksandra;
Wszolek, Zbigniew K.;
Ross, Owen A.;
Dickson, Dennis W.;
Rademakers, Rosa

Publication type:

Article

Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs.

Published in:

Human Mutation, 2014, v. 35, n. 8, p. 998, doi. 10.1002/humu.22593

By:

Zeng, Weihua;
Chen, Yen‐Yun;
Newkirk, Daniel A.;
Wu, Beibei;
Balog, Judit;
Kong, Xiangduo;
Ball, Alexander R.;
Zanotti, Simona;
Tawil, Rabi;
Hashimoto, Naohiro;
Mortazavi, Ali;
Maarel, Silvère M.;
Yokomori, Kyoko

Publication type:

Article

A Novel in-Frame 18-bp Microdeletion in MT- CYB Causes a Multisystem Disorder with Prominent Exercise Intolerance.

Published in:

Human Mutation, 2014, v. 35, n. 8, p. 954, doi. 10.1002/humu.22596

By:

Carossa, Valeria;
Ghelli, Anna;
Tropeano, Concetta Valentina;
Valentino, Maria Lucia;
Iommarini, Luisa;
Maresca, Alessandra;
Caporali, Leonardo;
La Morgia, Chiara;
Liguori, Rocco;
Barboni, Piero;
Carbonelli, Michele;
Rizzo, Giovanni;
Tonon, Caterina;
Lodi, Raffaele;
Martinuzzi, Andrea;
Nardo, Vera;
Rugolo, Michela;
Ferretti, Luca;
Gandini, Francesca;
Pala, Maria

Publication type:

Article

Structural Genomic Variation as Risk Factor for Idiopathic Recurrent Miscarriage.

Published in:

Human Mutation, 2014, v. 35, n. 8, p. 972, doi. 10.1002/humu.22589

By:

Nagirnaja, Liina;
Palta, Priit;
Kasak, Laura;
Rull, Kristiina;
Christiansen, Ole B.;
Nielsen, Henriette S.;
Steffensen, Rudi;
Esko, Tõnu;
Remm, Maido;
Laan, Maris

Publication type:

Article

Mutations in ALDH1 A3 Represent a Frequent Cause of Microphthalmia/Anophthalmia in Consanguineous Families.

Published in:

Human Mutation, 2014, v. 35, n. 8, p. 949, doi. 10.1002/humu.22580

By:

Abouzeid, Hana;
Favez, Tatiana;
Schmid, Angélique;
Agosti, Céline;
Youssef, Mohammed;
Marzouk, Iman;
El Shakankiry, Nihal;
Bayoumi, Nader;
Munier, Francis L.;
Schorderet, Daniel F.

Publication type:

Article

Genetic and Epigenetic Determinants of Low Dysferlin Expression in Monocytes.

Published in:

Human Mutation, 2014, v. 35, n. 8, p. 990, doi. 10.1002/humu.22591

By:

Gallardo, Eduard;
Ankala, Arunkanth;
Núñez‐Álvarez, Yaiza;
Hegde, Madhuri;
Diaz‐Manera, Jordi;
Luna, Noemí De;
Pastoret, Ana;
Suelves, Mònica;
Illa, Isabel

Publication type:

Article

VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies.

Published in:

Human Mutation, 2014, v. 35, n. 8, p. 983, doi. 10.1002/humu.22590

By:

Diodato, Daria;
Melchionda, Laura;
Haack, Tobias B.;
Dallabona, Cristina;
Baruffini, Enrico;
Donnini, Claudia;
Granata, Tiziana;
Ragona, Francesca;
Balestri, Paolo;
Margollicci, Maria;
Lamantea, Eleonora;
Nasca, Alessia;
Powell, Christopher A.;
Minczuk, Michal;
Strom, Tim M.;
Meitinger, Thomas;
Prokisch, Holger;
Lamperti, Costanza;
Zeviani, Massimo;
Ghezzi, Daniele

Publication type:

Article

Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence.

Published in:

Human Mutation, 2014, v. 35, n. 8, p. 1011, doi. 10.1002/humu.22606

By:

Gordon, Christopher T.;
Attanasio, Catia;
Bhatia, Shipra;
Benko, Sabina;
Ansari, Morad;
Tan, Tiong Y.;
Munnich, Arnold;
Pennacchio, Len A.;
Abadie, Véronique;
Temple, I. Karen;
Goldenberg, Alice;
Heyningen, Veronica;
Amiel, Jeanne;
FitzPatrick, David;
Kleinjan, Dirk A.;
Visel, Axel;
Lyonnet, Stanislas

Publication type:

Article

What Identity Crisis? Rapidly Mutating Y-STRs Facilitate Differentiation of Males.

Published in:

2014

By:

Oefner, Peter J.

Publication type:

Other

Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats.

Published in:

Human Mutation, 2014, v. 35, n. 8, p. 1021, doi. 10.1002/humu.22599

By:

Ballantyne, Kaye N.;
Ralf, Arwin;
Aboukhalid, Rachid;
Achakzai, Niaz M.;
Anjos, Maria J.;
Ayub, Qasim;
Balažic, Jože;
Ballantyne, Jack;
Ballard, David J.;
Berger, Burkhard;
Bobillo, Cecilia;
Bouabdellah, Mehdi;
Burri, Helen;
Capal, Tomas;
Caratti, Stefano;
Cárdenas, Jorge;
Cartault, François;
Carvalho, Elizeu F.;
Carvalho, Monica;
Cheng, Baowen

Publication type:

Article