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