Works matching IS 03406717 AND DT 2016 AND VI 135 AND IP 2

Results: 11

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.

Published in:

Human Genetics, 2016, v. 135, n. 2, p. 157, doi. 10.1007/s00439-015-1619-5

By:

Szczepanski, Sandra;
Hussain, Muhammad;
Sur, Ilknur;
Altmüller, Janine;
Thiele, Holger;
Abdullah, Uzma;
Waseem, Syeda;
Moawia, Abubakar;
Nürnberg, Gudrun;
Noegel, Angelika;
Baig, Shahid;
Nürnberg, Peter

Publication type:

Article

A new method for estimating effect size distribution and heritability from genome-wide association summary results.

Published in:

Human Genetics, 2016, v. 135, n. 2, p. 171, doi. 10.1007/s00439-015-1621-y

By:

Zhang, Lei;
Shen, Yue-Ping;
Hu, Wen-Zhu;
Ran, Shu;
Lin, Yong;
Lei, Shu-Feng;
Zhang, Yong-Hong;
Papasian, Christopher;
Yi, Nengjun;
Pei, Yu-Fang

Publication type:

Article

Incorporation of 5-ethynyl-2′-deoxyuridine (EdU) as a novel strategy for identification of the skewed X inactivation pattern in balanced and unbalanced X-rearrangements.

Published in:

Human Genetics, 2016, v. 135, n. 2, p. 185, doi. 10.1007/s00439-015-1622-x

By:

Sisdelli, Luiza;
Vidi, Angela;
Moysés-Oliveira, Mariana;
Di Battista, Adriana;
Bortolai, Adriana;
Moretti-Ferreira, Danilo;
Dias da Silva, Magnus;
Melaragno, Maria;
Carvalheira, Gianna

Publication type:

Article

Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy.

Published in:

Human Genetics, 2016, v. 135, n. 2, p. 193, doi. 10.1007/s00439-015-1624-8

By:

Shtir, Corina;
Aldahmesh, Mohammed;
Al-Dahmash, Saad;
Abboud, Emad;
Alkuraya, Hisham;
Abouammoh, Marwan A.;
Nowailaty, Sawsan R.;
Al-Thubaiti, Ghazai;
Naim, E.;
ALYounes, B.;
Binhumaid, F.;
ALOtaibi, A.;
Altamimi, A.;
Alamer, F.;
Hashem, Mais;
Abouelhoda, Mohamed;
Monies, Dorota;
Alkuraya, Fowzan

Publication type:

Article

Differential gene expression levels might explain association of LAIR2 polymorphisms with pemphigus.

Published in:

Human Genetics, 2016, v. 135, n. 2, p. 233, doi. 10.1007/s00439-015-1626-6

By:

Camargo, Carolina;
Augusto, Danillo;
Petzl-Erler, Maria

Publication type:

Article

Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.

Published in:

Human Genetics, 2016, v. 135, n. 2, p. 209, doi. 10.1007/s00439-015-1627-5

By:

Yaoita, Masako;
Niihori, Tetsuya;
Mizuno, Seiji;
Okamoto, Nobuhiko;
Hayashi, Shion;
Watanabe, Atsushi;
Yokozawa, Masato;
Suzumura, Hiroshi;
Nakahara, Akihiko;
Nakano, Yusuke;
Hokosaki, Tatsunori;
Ohmori, Ayumi;
Sawada, Hirofumi;
Migita, Ohsuke;
Mima, Aya;
Lapunzina, Pablo;
Santos-Simarro, Fernando;
García-Miñaúr, Sixto;
Ogata, Tsutomu;
Kawame, Hiroshi

Publication type:

Article

Linking short tandem repeat polymorphisms with cytosine modifications in human lymphoblastoid cell lines.

Published in:

Human Genetics, 2016, v. 135, n. 2, p. 223, doi. 10.1007/s00439-015-1628-4

By:

Zhang, Zhou;
Zheng, Yinan;
Zhang, Xu;
Liu, Cong;
Joyce, Brian;
Kibbe, Warren;
Hou, Lifang;
Zhang, Wei

Publication type:

Article

APOH interacts with FTO to predispose to healthy thinness.

Published in:

Human Genetics, 2016, v. 135, n. 2, p. 201, doi. 10.1007/s00439-015-1629-3

By:

Hasstedt, Sandra;
Coon, Hilary;
Xin, Yuanpei;
Adams, Ted;
Hunt, Steven

Publication type:

Article

Jones EM and Tansey EM (eds): Clinical molecular genetics in the UK c.1975-c.2000. Wellcome witnesses to contemporary medicine, vol 48.

Published in:

2016

By:

Wilkie, Andrew

Publication type:

Book Review

GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder.

Published in:

Human Genetics, 2016, v. 135, n. 2, p. 245, doi. 10.1007/s00439-015-1632-8

By:

Shamseldin, Hanan;
Bennett, Alexis;
Alfadhel, Majid;
Gupta, Vandana;
Alkuraya, Fowzan

Publication type:

Article

Chimeric transcripts resulting from complex duplications in chromosome Xq28.

Published in:

Human Genetics, 2016, v. 135, n. 2, p. 253, doi. 10.1007/s00439-015-1614-x

By:

W. Zuccherato, Luciana;
Alleva, Benjamin;
Whiters, Marjorie;
Carvalho, Claudia;
Lupski, James

Publication type:

Article