Works matching IS 03406717 AND DT 2020 AND VI 139 AND IP 2

Results: 9

Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD.

Published in:

Human Genetics, 2020, v. 139, n. 2, p. 257, doi. 10.1007/s00439-020-02110-0

By:

Tu, Chaofeng;
Nie, Hongchuan;
Meng, Lanlan;
Wang, Weili;
Li, Haiyu;
Yuan, Shimin;
Cheng, Dehua;
He, Wenbin;
Liu, Gang;
Du, Juan;
Gong, Fei;
Lu, Guangxiu;
Lin, Ge;
Zhang, Qianjun;
Tan, Yue-Qiu

Publication type:

Article

Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.

Published in:

Human Genetics, 2020, v. 139, n. 2, p. 247, doi. 10.1007/s00439-019-02107-4

By:

Okubo, Mariko;
Noguchi, Satoru;
Hayashi, Shinichiro;
Nakamura, Harumasa;
Komaki, Hirofumi;
Matsuo, Masafumi;
Nishino, Ichizo

Publication type:

Article

Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene.

Published in:

Human Genetics, 2020, v. 139, n. 2, p. 227, doi. 10.1007/s00439-019-02104-7

By:

Nobile, Veronica;
Palumbo, Federica;
Lanni, Stella;
Ghisio, Valentina;
Vitali, Alberto;
Castagnola, Massimo;
Marzano, Valeria;
Maulucci, Giuseppe;
De Angelis, Claudio;
De Spirito, Marco;
Pacini, Laura;
D'Andrea, Laura;
Ragno, Rino;
Stazi, Giulia;
Valente, Sergio;
Mai, Antonello;
Chiurazzi, Pietro;
Genuardi, Maurizio;
Neri, Giovanni;
Tabolacci, Elisabetta

Publication type:

Article

Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21.

Published in:

Human Genetics, 2020, v. 139, n. 2, p. 215, doi. 10.1007/s00439-019-02099-1

By:

Mukhopadhyay, Nandita;
Bishop, Madison;
Mortillo, Michael;
Chopra, Pankaj;
Hetmanski, Jacqueline B.;
Taub, Margaret A.;
Moreno, Lina M.;
Valencia-Ramirez, Luz Consuelo;
Restrepo, Claudia;
Wehby, George L.;
Hecht, Jacqueline T.;
Deleyiannis, Frederic;
Butali, Azeez;
Weinberg, Seth M.;
Beaty, Terri H.;
Murray, Jeffrey C.;
Leslie, Elizabeth J.;
Feingold, Eleanor;
Marazita, Mary L.

Publication type:

Article

A powerful fine-mapping method for transcriptome-wide association studies.

Published in:

Human Genetics, 2020, v. 139, n. 2, p. 199, doi. 10.1007/s00439-019-02098-2

By:

Wu, Chong;
Pan, Wei

Publication type:

Article

Editors' Note to: EDAR, LYPLAL1, PRDM16, PAX3, DKK1, TNFSF12, CACNA2D3, and SUPT3H gene variants influence facial morphology in a Eurasian population.

Published in:: 2020
Publication type:: Editorial

Identifying common genome-wide risk genes for major psychiatric traits.

Published in:

Human Genetics, 2020, v. 139, n. 2, p. 185, doi. 10.1007/s00439-019-02096-4

By:

Liu, Sha;
Rao, Shuquan;
Xu, Yong;
Li, Jun;
Huang, Hailiang;
Zhang, Xu;
Fu, Hui;
Wang, Qiang;
Cao, Hongbao;
Baranova, Ancha;
Jin, Chunhui;
Zhang, Fuquan

Publication type:

Article

MS/MS in silico subtraction-based proteomic profiling as an approach to facilitate disease gene discovery: application to lens development and cataract.

Published in:

Human Genetics, 2020, v. 139, n. 2, p. 151, doi. 10.1007/s00439-019-02095-5

By:

Aryal, Sandeep;
Anand, Deepti;
Hernandez, Francisco G.;
Weatherbee, Bailey A. T.;
Huang, Hongzhan;
Reddy, Ashok P.;
Wilmarth, Phillip A.;
David, Larry L.;
Lachke, Salil A.

Publication type:

Article

Copy number variation profiling in pharmacogenes using panel-based exome resequencing and correlation to human liver expression.

Published in:

Human Genetics, 2020, v. 139, n. 2, p. 137, doi. 10.1007/s00439-019-02093-7

By:

Tremmel, Roman;
Klein, Kathrin;
Battke, Florian;
Fehr, Sarah;
Winter, Stefan;
Scheurenbrand, Tim;
Schaeffeler, Elke;
Biskup, Saskia;
Schwab, Matthias;
Zanger, Ulrich M.

Publication type:

Article