Works matching IS 10597794 AND DT 2017 AND VI 38 AND IP 1

Results: 19

Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner Disease.

Published in:

Human Mutation, 2017, v. 38, n. 1, p. 43, doi. 10.1002/humu.23124

By:

Burin‐des‐Roziers, Cyril;
Rothschild, Pierre‐Raphael;
Layet, Valérie;
Chen, Jian‐Min;
Ghiotti, Tiffany;
Leroux, Céline;
Cremers, Frans P. M.;
Brézin, Antoine P.;
Valleix, Sophie

Publication type:

Article

Analysis of Heteroplasmic Variants in the Cardiac Mitochondrial Genome of Individuals with Down Syndrome.

Published in:

Human Mutation, 2017, v. 38, n. 1, p. 48, doi. 10.1002/humu.23071

By:

Hefti, Erik;
Bard, Jonathan;
Blanco, Javier G.

Publication type:

Article

Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine.

Published in:

Human Mutation, 2017, v. 38, n. 1, p. 122, doi. 10.1002/humu.23064

By:

Bean, Lora J.H.;
Hegde, Madhuri R.

Publication type:

Article

Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.

Published in:

Human Mutation, 2017, v. 38, n. 1, p. 34, doi. 10.1002/humu.23070

By:

Vodopiutz, Julia;
Mizumoto, Shuji;
Lausch, Ekkehart;
Rossi, Antonio;
Unger, Sheila;
Janocha, Nikolaus;
Costantini, Rossella;
Seidl, Rainer;
Greber‐Platzer, Susanne;
Yamada, Shuhei;
Müller, Thomas;
Jilma, Bernd;
Ganger, Rudolf;
Superti‐Furga, Andrea;
Ikegawa, Shiro;
Sugahara, Kazuyuki;
Janecke, Andreas R.

Publication type:

Article

Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I.

Published in:

Human Mutation, 2017, v. 38, n. 1, p. 95, doi. 10.1002/humu.23130

By:

Xiong, Fu;
Ji, Zhisong;
Liu, Yanhui;
Zhang, Yu;
Hu, Lingling;
Yang, Qi;
Qiu, Qinwei;
Zhao, Lingfeng;
Chen, Dong;
Tian, Zhihui;
Shang, Xuan;
Zhang, Leitao;
Wei, Xiaofeng;
Liu, Cuixian;
Yu, Qiuxia;
Zhang, Meichao;
Cheng, Jing;
Xiong, Jun;
Li, Dongri;
Wu, Xiuhua

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2017, v. 38, n. 1, p. 1, doi. 10.1002/humu.22893
Publication type:: Article

ExonImpact: Prioritizing Pathogenic Alternative Splicing Events.

Published in:

Human Mutation, 2017, v. 38, n. 1, p. 16, doi. 10.1002/humu.23111

By:

Li, Meng;
Feng, Weixing;
Zhang, Xinjun;
Yang, Yuedong;
Wang, Kejun;
Mort, Matthew;
Cooper, David N;
Wang, Yue;
Zhou, Yaoqi;
Liu, Yunlong

Publication type:

Article

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.

Published in:

Human Mutation, 2017, v. 38, n. 1, p. 64, doi. 10.1002/humu.23117

By:

Tricarico, Rossella;
Kasela, Mariann;
Mareni, Cristina;
Thompson, Bryony A.;
Drouet, Aurélie;
Staderini, Lucia;
Gorelli, Greta;
Crucianelli, Francesca;
Ingrosso, Valentina;
Kantelinen, Jukka;
Papi, Laura;
Angioletti, Maria;
Berardi, Margherita;
Gaildrat, Pascaline;
Soukarieh, Omar;
Turchetti, Daniela;
Martins, Alexandra;
Spurdle, Amanda B.;
Nyström, Minna;
Genuardi, Maurizio

Publication type:

Article

Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland.

Published in:

Human Mutation, 2017, v. 38, n. 1, p. 78, doi. 10.1002/humu.23121

By:

Radian, Serban;
Diekmann, Yoan;
Gabrovska, Plamena;
Holland, Brendan;
Bradley, Lisa;
Wallace, Helen;
Stals, Karen;
Bussell, Anna‐Marie;
McGurren, Karen;
Cuesta, Martin;
Ryan, Anthony W.;
Herincs, Maria;
Hernández‐Ramírez, Laura C.;
Holland, Aidan;
Samuels, Jade;
Aflorei, Elena Daniela;
Barry, Sayka;
Dénes, Judit;
Pernicova, Ida;
Stiles, Craig E.

Publication type:

Article

Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues.

Published in:

Human Mutation, 2017, v. 38, n. 1, p. 39, doi. 10.1002/humu.23116

By:

Igarashi, Maki;
Takasawa, Kei;
Hakoda, Akiko;
Kanno, Junko;
Takada, Shuji;
Miyado, Mami;
Baba, Takashi;
Morohashi, Ken‐ichirou;
Tajima, Toshihiro;
Hata, Kenichiro;
Nakabayashi, Kazuhiko;
Matsubara, Yoichi;
Sekido, Ryohei;
Ogata, Tsutomu;
Kashimada, Kenichi;
Fukami, Maki

Publication type:

Article

A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).

Published in:

Human Mutation, 2017, v. 38, n. 1, p. 55, doi. 10.1002/humu.23123

By:

Shaikh, Samiha S.;
Chen, Ya‐Chun;
Halsall, Sally‐Anne;
Nahorski, Michael S.;
Omoto, Kiyoyuki;
Young, Gareth T.;
Phelan, Anne;
Woods, Christopher Geoffrey

Publication type:

Article

mirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via Classifications.

Published in:

Human Mutation, 2017, v. 38, n. 1, p. 25, doi. 10.1002/humu.23125

By:

Li, Zhongshan;
Liu, Zhenwei;
Jiang, Yi;
Chen, Denghui;
Ran, Xia;
Sun, Zhong Sheng;
Wu, Jinyu

Publication type:

Article

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

Published in:

Human Mutation, 2017, v. 38, n. 1, p. 7, doi. 10.1002/humu.23128

By:

Yokote, Koutaro;
Chanprasert, Sirisak;
Lee, Lin;
Eirich, Katharina;
Takemoto, Minoru;
Watanabe, Aki;
Koizumi, Naoko;
Lessel, Davor;
Mori, Takayasu;
Hisama, Fuki M.;
Ladd, Paula D.;
Angle, Brad;
Baris, Hagit;
Cefle, Kivanc;
Palanduz, Sukru;
Ozturk, Sukru;
Chateau, Antoinette;
Deguchi, Kentaro;
Easwar, T.K.M;
Federico, Antonio

Publication type:

Article

Investigating the Molecular Mechanisms Behind Uncharacterized Cysteine Losses from Prediction of Their Oxidation State.

Published in:

Human Mutation, 2017, v. 38, n. 1, p. 86, doi. 10.1002/humu.23129

By:

Raimondi, Daniele;
Orlando, Gabriele;
Messens, Joris;
Vranken, Wim F.

Publication type:

Article

11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.

Published in:

Human Mutation, 2017, v. 38, n. 1, p. 105, doi. 10.1002/humu.23131

By:

Abi Habib, Walid;
Brioude, Frederic;
Azzi, Salah;
Salem, Jennifer;
Das Neves, Cristina;
Personnier, Claire;
Chantot‐Bastaraud, Sandra;
Keren, Boris;
Bouc, Yves;
Harbison, Madeleine D.;
Netchine, Irene

Publication type:

Article

Characterization of a Rare Nonpathogenic Methylenetetrahydrofolatereductase ( MTHFR) Gene Mutation p.Lys215del in a Southern Italian family.

Published in:

Human Mutation, 2017, v. 38, n. 1, p. 120, doi. 10.1002/humu.23132

By:

Palmirotta, Raffaele;
Lovero, Domenica;
Silvestris, Erica;
Simone, Valeria;
Lanotte, Laura;
Quaresmini, Davide;
Silvestris, Franco

Publication type:

Article

The CHRNA5/CHRNA3/CHRNB4 Nicotinic Receptor Regulome: Genomic Architecture, Regulatory Variants, and Clinical Associations.

Published in:

Human Mutation, 2017, v. 38, n. 1, p. 112, doi. 10.1002/humu.23135

By:

Barrie, Elizabeth S.;
Hartmann, Katherine;
Lee, Sung‐Ha;
Frater, John T.;
Seweryn, Michal;
Wang, Danxin;
Sadee, Wolfgang

Publication type:

Article

Cover Image, Volume 38, Issue 1.

Published in:

Human Mutation, 2017, v. 38, n. 1, p. i, doi. 10.1002/humu.23151

By:

Igarashi, Maki;
Takasawa, Kei;
Hakoda, Akiko;
Kanno, Junko;
Takada, Shuji;
Miyado, Mami;
Baba, Takashi;
Morohashi, Ken‐ichirou;
Tajima, Toshihiro;
Hata, Kenichiro;
Nakabayashi, Kazuhiko;
Matsubara, Yoichi;
Sekido, Ryohei;
Ogata, Tsutomu;
Kashimada, Kenichi;
Fukami, Maki

Publication type:

Article

Are Functional Assays for Pathogenicity Assessment of Genetic Variants Overrated?

Published in:

Human Mutation, 2017, v. 38, n. 1, p. 5, doi. 10.1002/humu.23143

By:

Sobrido, María‐Jesús

Publication type:

Article