Works matching IS 10597794 AND DT 2017 AND VI 38 AND IP 12

Results: 20

Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history.

Published in:

Human Mutation, 2017, v. 38, n. 12, p. 1723, doi. 10.1002/humu.23320

By:

Andrade, Kelvin César;
Mirabello, Lisa;
Stewart, Douglas R.;
Karlins, Eric;
Koster, Roelof;
Wang, Mingyi;
Gapstur, Susan M.;
Gaudet, Mia M.;
Freedman, Neal D.;
Landi, Maria Teresa;
Lemonnier, Nathanaël;
Hainaut, Pierre;
Savage, Sharon A.;
Achatz, Maria Isabel

Publication type:

Article

Loss of interaction between plectin and type XVII collagen results in epidermolysis bullosa simplex.

Published in:

Human Mutation, 2017, v. 38, n. 12, p. 1666, doi. 10.1002/humu.23344

By:

Natsuga, Ken;
Nishie, Wataru;
Nishimura, Machiko;
Shinkuma, Satoru;
Watanabe, Mika;
Izumi, Kentaro;
Nakamura, Hideki;
Hirako, Yoshiaki;
Shimizu, Hiroshi

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2017, v. 38, n. 12, p. 1615, doi. 10.1002/humu.23109
Publication type:: Article

Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

Published in:

Human Mutation, 2017, v. 38, n. 12, p. 1774, doi. 10.1002/humu.23339

By:

Chen, Li;
Jensik, Philip J.;
Alaimo, Joseph T.;
Walkiewicz, Magdalena;
Berger, Seth;
Roeder, Elizabeth;
Faqeih, Eissa A.;
Bernstein, Jonathan A.;
Smith, Ann C. M.;
Mullegama, Sureni V.;
Saffen, David W.;
Elsea, Sarah H.

Publication type:

Article

A disease-associated mutation in the adhesion GPCR BAI2 ( ADGRB2) increases receptor signaling activity.

Published in:

Human Mutation, 2017, v. 38, n. 12, p. 1751, doi. 10.1002/humu.23336

By:

Purcell, Ryan H.;
Toro, Camilo;
Gahl, William A.;
Hall, Randy A.

Publication type:

Article

Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism.

Published in:

Human Mutation, 2017, v. 38, n. 12, p. 1740, doi. 10.1002/humu.23335

By:

Zhou, Xiao-Long;
He, Long-Xia;
Yu, Li-Jia;
Wang, Yong;
Wang, Xi-Jin;
Wang, En-Duo;
Yang, Tao

Publication type:

Article

Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.

Published in:

Human Mutation, 2017, v. 38, n. 12, p. 1761, doi. 10.1002/humu.23338

By:

Barone, Virginia;
Del Re, Valeria;
Gamberucci, Alessandra;
Polverino, Valentina;
Galli, Lucia;
Rossi, Daniela;
Costanzi, Elisa;
Toniolo, Luana;
Berti, Gianna;
Malandrini, Alessandro;
Ricci, Giulia;
Siciliano, Gabriele;
Vattemi, Gaetano;
Tomelleri, Giuliano;
Pierantozzi, Enrico;
Spinozzi, Simone;
Volpi, Nila;
Fulceri, Rosella;
Battistutta, Roberto;
Reggiani, Carlo

Publication type:

Article

Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.

Published in:

Human Mutation, 2017, v. 38, n. 12, p. 1621, doi. 10.1002/humu.23337

By:

Cardoso, Luís;
Stevenson, Mark;
Thakker, Rajesh V.

Publication type:

Article

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

Published in:

Human Mutation, 2017, v. 38, n. 12, p. 1786, doi. 10.1002/humu.23340

By:

Wortmann, Saskia B.;
Timal, Sharita;
Venselaar, Hanka;
Wintjes, Liesbeth T.;
Kopajtich, Robert;
Feichtinger, René G.;
Onnekink, Carla;
Mühlmeister, Mareike;
Brandt, Ulrich;
Smeitink, Jan A.;
Veltman, Joris A.;
Sperl, Wolfgang;
Lefeber, Dirk;
Pruijn, Ger;
Stojanovic, Vesna;
Freisinger, Peter;
v Spronsen, Francjan;
Derks, Terry GJ;
Veenstra-Knol, Hermine E.;
Mayr, Johannes A

Publication type:

Article

Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene.

Published in:

Human Mutation, 2017, v. 38, n. 12, p. 1660, doi. 10.1002/humu.23343

By:

Venet, Théa;
Masson, Emmanuelle;
Talbotec, Cécile;
Billiemaz, Kareen;
Touraine, Renaud;
Gay, Claire;
Destombe, Sylvie;
Cooper, David N.;
Patural, Hugues;
Chen, Jian-Min;
Férec, Claude

Publication type:

Article

Partial and complete SPINK1 deficiency cause distinct pancreatic phenotypes.

Published in:

2017

By:

Sahin-Tóth, Miklós

Publication type:

Other

Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects.

Published in:

Human Mutation, 2017, v. 38, n. 12, p. 1731, doi. 10.1002/humu.23321

By:

Ghosh, Somadri;
Huber, Céline;
Siour, Quentin;
Sousa, Sérgio B.;
Wright, Michael;
Cormier-Daire, Valérie;
Erneux, Christophe

Publication type:

Article

Molecular and clinical spectra of FBXL4 deficiency.

Published in:

Human Mutation, 2017, v. 38, n. 12, p. 1649, doi. 10.1002/humu.23341

By:

El-Hattab, Ayman W.;
Dai, Hongzheng;
Almannai, Mohammed;
Wang, Julia;
Faqeih, Eissa A.;
Al Asmari, Ali;
Saleh, Mohammed A. M.;
Elamin, Mohammed A. O.;
Alfadhel, Majid;
Alkuraya, Fowzan S.;
Hashem, Mais;
Aldosary, Mazhor S.;
Almass, Rawan;
Almutairi, Faten B.;
Alsagob, Maysoon;
Al-Owain, Mohammed;
Al-Sharfa, Shirin;
Al-Hassnan, Zuhair N.;
Rahbeeni, Zuhair;
Al-Muhaizea, Mohammed A.

Publication type:

Article

Is Li-Fraumeni syndrome really much more common?

Published in:

2017

By:

Thomas, David M

Publication type:

Other

HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing.

Published in:

Human Mutation, 2017, v. 38, n. 12, p. 1796, doi. 10.1002/humu.23298

By:

Imai-Okazaki, Atsuko;
Kohda, Masakazu;
Kobayashi, Kaori;
Hirata, Tomoko;
Sakata, Yasushi;
Murayama, Kei;
Ohtake, Akira;
Okazaki, Yasushi;
Nakaya, Akihiro;
Ott, Jurg

Publication type:

Article

Cover Image, Volume 38, Issue 12.

Published in:

Human Mutation, 2017, v. 38, n. 12, p. i, doi. 10.1002/humu.23363

By:

Zhang, Yue;
Zhou, Tiantian;
Niu, Yayan;
He, Meiling;
Wang, Can;
Liu, Meng;
Yang, Junhua;
Zhang, Yonghong;
Zhou, Jianping;
Fukuda, Koichi;
Qin, Jun;
Dong, Ningzheng;
Wu, Qingyu

Publication type:

Article

PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay.

Published in:

Human Mutation, 2017, v. 38, n. 12, p. 1671, doi. 10.1002/humu.23310

By:

Proskorovski-Ohayon, Regina;
Kadir, Rotem;
Michalowski, Analia;
Flusser, Hagit;
Perez, Yonatan;
Hershkovitz, Eli;
Sivan, Sara;
Birk, Ohad S.

Publication type:

Article

Functional and molecular studies in primary carnitine deficiency.

Published in:

Human Mutation, 2017, v. 38, n. 12, p. 1684, doi. 10.1002/humu.23315

By:

Frigeni, Marta;
Balakrishnan, Bijina;
Yin, Xue;
Calderon, Fernanda R.O.;
Mao, Rong;
Pasquali, Marzia;
Longo, Nicola

Publication type:

Article

Identification and functional analysis of CORIN variants in hypertensive patients.

Published in:

Human Mutation, 2017, v. 38, n. 12, p. 1700, doi. 10.1002/humu.23318

By:

Zhang, Yue;
Zhou, Tiantian;
Niu, Yayan;
He, Meiling;
Wang, Can;
Liu, Meng;
Yang, Junhua;
Zhang, Yonghong;
Zhou, Jianping;
Fukuda, Koichi;
Qin, Jun;
Dong, Ningzheng;
Wu, Qingyu

Publication type:

Article

Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification.

Published in:

Human Mutation, 2017, v. 38, n. 12, p. 1711, doi. 10.1002/humu.23319

By:

Hillmer, Morten;
Summerer, Anna;
Mautner, Victor-Felix;
Högel, Josef;
Cooper, David N.;
Kehrer-Sawatzki, Hildegard

Publication type:

Article