Works matching IS 00034800 AND DT 2019 AND VI 83 AND IP 4

Results: 13

Issue Information.

Published in:: Annals of Human Genetics, 2019, v. 83, n. 4, p. i, doi. 10.1111/ahg.12266
Publication type:: Article

Two novel variants in the ATM gene causing ataxia‐telangiectasia, including a duplication of 90 kb: Utility of targeted next‐generation sequencing in detection of copy number variation.

Published in:

Annals of Human Genetics, 2019, v. 83, n. 4, p. 266, doi. 10.1111/ahg.12312

By:

Martin‐Rodriguez, Samuel;
Calvo‐Ferrer, Alicia;
Ortega‐Unanue, Nerea;
Samaniego‐Jimenez, Laura;
Sanz‐Izquierdo, Maria Pilar;
Bernardo‐Gonzalez, Ivan

Publication type:

Article

Association of rs10490924 in ARMS2/HTRA1 with age‐related macular degeneration in the Pakistani population.

Published in:

Annals of Human Genetics, 2019, v. 83, n. 4, p. 285, doi. 10.1111/ahg.12311

By:

Ayub, Humaira;
Shafique, Sobia;
Azam, Aisha;
Muslim, Irfan;
Qazi, Nauman A;
Akhtar, Farah;
Khan, Muhammad Asim;
Ayub, Adil;
Bashir, Shaheena;
Bakker, Bjorn;
Ahmed, Shakil;
Azam, Maleeha;
Hollander, Anneke I.;
Qamar, Raheel

Publication type:

Article

Association of single nucleotide polymorphisms in TPM1 rs11071720, rs3803499, rs12148828, and rs1972041 with the risk of nonsyndromic cleft lip with or without cleft palate in a sample of the Iranian population, a preliminary report.

Published in:

Annals of Human Genetics, 2019, v. 83, n. 4, p. 256, doi. 10.1111/ahg.12310

By:

Rafighdoost, Houshang;
Tabatabaei, Fatemeh;
Bahari, Gholamreza;
Hashemi, Mohammad

Publication type:

Article

Influence of STAT4 gene polymorphisms in the pathogenesis of endometriosis.

Published in:

Annals of Human Genetics, 2019, v. 83, n. 4, p. 249, doi. 10.1111/ahg.12309

By:

Bianco, Bianca;
Fernandes, Ramon Felix Martins;
Trevisan, Camila Martins;
Christofolini, Denise M.;
Sanz‐Lomana, Carlos Millán;
Bernabe, Javier Valero;
Barbosa, Caio P.

Publication type:

Article

Consanguinity: A blessing or menace at population level?

Published in:

Annals of Human Genetics, 2019, v. 83, n. 4, p. 214, doi. 10.1111/ahg.12308

By:

Bhinder, Munir Ahmad;
Sadia, Haleema;
Mahmood, Nasir;
Qasim, Muhammad;
Hussain, Zawar;
Rashid, Muhammad Mudassar;
Zahoor, Muhammad Yasir;
Bhatti, Rashid;
Shehzad, Wasim;
Waryah, Ali Muhammad;
Jahan, Shah

Publication type:

Article

Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.

Published in:

Annals of Human Genetics, 2019, v. 83, n. 4, p. 278, doi. 10.1111/ahg.12307

By:

Gul, Hadia;
Shah, Abdul Haleem;
Harripaul, Ricardo;
Mikhailov, Anna;
Prajapati, Kamalben;
Khan, Ejazullah;
Ullah, Farman;
Zubair, Muhammad;
Ali, Muhammad Zeeshan;
Shah, Ayesha Haleem;
Salman, Said;
Khan, Saadullah;
Vincent, John B.;
Khan, Muzammil Ahmad

Publication type:

Article

The epigenetics of the hypothalamic‐pituitary‐adrenal axis in fetal development.

Published in:

Annals of Human Genetics, 2019, v. 83, n. 4, p. 195, doi. 10.1111/ahg.12306

By:

Montenegro, Yorran Hardman A.;
Queiroga Nascimento, Denise;
Assis, Thiago Oliveira;
Santos‐Lopes, Simone Silva Dos

Publication type:

Article

Significant association of rare variant p.Gly8Ser in cardiac sodium channel β4‐subunit SCN4B with atrial fibrillation.

Published in:

Annals of Human Genetics, 2019, v. 83, n. 4, p. 239, doi. 10.1111/ahg.12305

By:

Xiong, Hongbo;
Yang, Qin;
Zhang, Xiaoping;
Wang, Pengxia;
Chen, Feifei;
Liu, Ying;
Wang, Pengyun;
Zhao, Yuanyuan;
Li, Sisi;
Huang, Yufeng;
Chen, Shanshan;
Wang, Xiaojing;
Zhang, Hongfu;
Yu, Dong;
Tan, Chencheng;
Fang, Cheng;
Huang, Yuan;
Wu, Gang;
Wu, Yanxia;
Cheng, Xiang

Publication type:

Article

Regions of homozygosity as risk factors for multiple myeloma.

Published in:

Annals of Human Genetics, 2019, v. 83, n. 4, p. 231, doi. 10.1111/ahg.12304

By:

Went, Molly;
Sud, Amit;
Li, Ni;
Johnson, David C.;
Mitchell, Jonathan S.;
Kaiser, Martin;
Houlston, Richard S.

Publication type:

Article

The mitochondrial DNA 4977‐bp deletion and copy number alteration in Han Chinese samples with uterine fibroids.

Published in:

Annals of Human Genetics, 2019, v. 83, n. 4, p. 220, doi. 10.1111/ahg.12303

By:

Luo, Yong;
Zou, Yang;
Wu, Juan;
Zhang, Zi‐Yu;
Liu, Fa‐Ying;
Li, Li‐Ping;
Huang, Ou‐Ping

Publication type:

Article

Clinical relevance of genome‐wide polygenic score may be less than claimed.

Published in:

Annals of Human Genetics, 2019, v. 83, n. 4, p. 274, doi. 10.1111/ahg.12302

By:

Curtis, David

Publication type:

Article

Issue Information.

Published in:: Annals of Human Genetics, 2019, v. 83, n. 4, p. 1, doi. 10.1111/ahg.12266
Publication type:: Article