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

Results: 19

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
Issue Information.
Published in:
Human Mutation, 2017, v. 38, n. 1, p. 1, doi. 10.1002/humu.22893
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
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
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
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
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
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
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
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
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
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
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
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