Works matching IS 03406717 AND DT 2016 AND VI 135 AND IP 10

Results: 10

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

Published in:

Human Genetics, 2016, v. 135, n. 10, p. 1117, doi. 10.1007/s00439-016-1700-8

By:

Henden, Lyndal;
Freytag, Saskia;
Afawi, Zaid;
Baldassari, Sara;
Berkovic, Samuel;
Bisulli, Francesca;
Canafoglia, Laura;
Casari, Giorgio;
Crompton, Douglas;
Depienne, Christel;
Gecz, Jozef;
Guerrini, Renzo;
Helbig, Ingo;
Hirsch, Edouard;
Keren, Boris;
Klein, Karl;
Labauge, Pierre;
LeGuern, Eric;
Licchetta, Laura;
Mei, Davide

Publication type:

Article

Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus.

Published in:

Human Genetics, 2016, v. 135, n. 10, p. 1181, doi. 10.1007/s00439-016-1701-7

By:

Yang, Haiou;
Zheng, Zhaojing;
Cai, Haiqing;
Li, Huimin;
Ye, Xingchen;
Zhang, Xiaoqing;
Wang, Zhigang;
Fu, Qihua

Publication type:

Article

Nonrecurrent PMP22- RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.

Published in:

Human Genetics, 2016, v. 135, n. 10, p. 1161, doi. 10.1007/s00439-016-1703-5

By:

Yuan, Bo;
Neira, Juanita;
Gu, Shen;
Harel, Tamar;
Liu, Pengfei;
Briceño, Ignacio;
Elsea, Sarah;
Gómez, Alberto;
Potocki, Lorraine;
Lupski, James

Publication type:

Article

Genetic alterations of δ-catenin/NPRAP/Neurojungin ( CTNND2): functional implications in complex human diseases.

Published in:

Human Genetics, 2016, v. 135, n. 10, p. 1107, doi. 10.1007/s00439-016-1705-3

By:

Lu, Qun;
Aguilar, Byron;
Li, Mingchuan;
Jiang, Yongguang;
Chen, Yan-Hua

Publication type:

Article

Immunoglobulin G genotypes and the risk of schizophrenia.

Published in:

Human Genetics, 2016, v. 135, n. 10, p. 1175, doi. 10.1007/s00439-016-1706-2

By:

Pandey, Janardan;
Namboodiri, Aryan;
Elston, Robert

Publication type:

Article

Genetic variants in microRNA and microRNA biogenesis pathway genes and breast cancer risk among women of African ancestry.

Published in:

Human Genetics, 2016, v. 135, n. 10, p. 1145, doi. 10.1007/s00439-016-1707-1

By:

Qian, Frank;
Feng, Ye;
Zheng, Yonglan;
Ogundiran, Temidayo;
Ojengbede, Oladosu;
Zheng, Wei;
Blot, William;
Ambrosone, Christine;
John, Esther;
Bernstein, Leslie;
Hu, Jennifer;
Ziegler, Regina;
Nyante, Sarah;
Bandera, Elisa;
Ingles, Sue;
Press, Michael;
Nathanson, Katherine;
Hennis, Anselm;
Nemesure, Barbara;
Ambs, Stefan

Publication type:

Article

A lethal phenotype associated with tissue plasminogen deficiency in humans.

Published in:

Human Genetics, 2016, v. 135, n. 10, p. 1209, doi. 10.1007/s00439-016-1711-5

By:

Shamseldin, Hanan;
Aldeeri, Abdulrahman;
Babay, Zainab;
Alsultan, Abdulrahman;
Hashem, Mais;
Alkuraya, Fowzan

Publication type:

Article

Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans.

Published in:

Human Genetics, 2016, v. 135, n. 10, p. 1191, doi. 10.1007/s00439-016-1722-2

By:

Shaheen, Ranad;
Hashem, Amal;
Abdel-Salam, Ghada;
Al-Fadhli, Fatima;
Ewida, Nour;
Alkuraya, Fowzan

Publication type:

Article

CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.

Published in:

Human Genetics, 2016, v. 135, n. 10, p. 1199, doi. 10.1007/s00439-016-1724-0

By:

Basit, Sulman;
Al-Harbi, Khalid;
Alhijji, Sabri;
Albalawi, Alia;
Alharby, Essa;
Eldardear, Amr;
Samman, Mohammed

Publication type:

Article

The genetic history of Cochin Jews from India.

Published in:

Human Genetics, 2016, v. 135, n. 10, p. 1127, doi. 10.1007/s00439-016-1698-y

By:

Waldman, Yedael;
Biddanda, Arjun;
Dubrovsky, Maya;
Campbell, Christopher;
Oddoux, Carole;
Friedman, Eitan;
Atzmon, Gil;
Halperin, Eran;
Ostrer, Harry;
Keinan, Alon

Publication type:

Article