Volume 54; Issue 3

Journal of Medical Genetics

Volume 54; Issue 3

1

The importance of dynamic re-analysis in diagnostic whole exome sequencing

Need, Anna C, Shashi, Vandana, Schoch, Kelly, Petrovski, Slavé, Goldstein, David B

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 132 KB

english, 2017

2

Genetics insight into the amyotrophic lateral sclerosis/frontotemporal dementia spectrum

Ji, Ai-Ling, Zhang, Xia, Chen, Wei-Wei, Huang, Wen-Juan

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 502 KB

english, 2017

3

CEP78 is mutated in a distinct type of Usher syndrome

Fu, Qing, Xu, Mingchu, Chen, Xue, Sheng, Xunlun, Yuan, Zhisheng, Liu, Yani, Li, Huajin, Sun, Zixi, Li, Huiping, Yang, Lizhu, Wang, Keqing, Zhang, Fangxia, Li, Yumei, Zhao, Chen, Sui, Ruifang, Chen, Ru

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 998 KB

english, 2017

4

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene

Balasubramanian, M, Lord, H, Levesque, S, Guturu, H, Thuriot, F, Sillon, G, Wenger, A M, Sureka, D L, Lester, T, Johnson, D S, Bowen, J, Calhoun, A R, Viskochil, D H, Bejerano, G, Bernstein, J A, Chit

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 794 KB

english, 2017

5

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy

Ishii, Atsushi, Kang, Jing-Qiong, Schornak, Cara C, Hernandez, Ciria C, Shen, Wangzhen, Watkins, Joseph C, Macdonald, Robert L, Hirose, Shinichi

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 5.62 MB

english, 2017

6

A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome

Bar, Daniel Z, Arlt, Martin F, Brazier, Joan F, Norris, Wendy E, Campbell, Susan E, Chines, Peter, Larrieu, Delphine, Jackson, Stephen P, Collins, Francis S, Glover, Thomas W, Gordon, Leslie B

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 1.11 MB

english, 2017

7

A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima

Koehler, Katrin, Milev, Miroslav P., Prematilake, Keshika, Reschke, Felix, Kutzner, Susann, Jühlen, Ramona, Landgraf, Dana, Utine, Eda, Hazan, Filiz, Diniz, Gulden, Schuelke, Markus, Huebner, Angela,

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 1.77 MB

english, 2017

8

Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix

Shah, Khadim, Ansar, Muhammad, Mughal, Zaib-un-Nisa, Khan, Falak Sher, Ahmad, Wasim, Ferrara, Tracey M, Spritz, Richard A

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 493 KB

english, 2017

9

Mutations in the phosphatidylinositol glycan C ( PIGC ) gene are associated with epilepsy and intellectual disability

Edvardson, Simon, Murakami, Yoshiko, Nguyen, Thi Tuyet Mai, Shahrour, Maher, St-Denis, Anik, Shaag, Avraham, Damseh, Nadira, Le Deist, Françoise, Bryceson, Yenan, Abu-Libdeh, Bassam, Campeau, Philippe

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 1.17 MB

english, 2017

10

Carriers of a VEGFA enhancer polymorphism selectively binding CHOP/DDIT3 are predisposed to increased circulating levels of thyroid-stimulating hormone

Ahluwalia, Tarunveer Singh, Troelsen, Jesper Thorvald, Balslev-Harder, Marie, Bork-Jensen, Jette, Thuesen, Betina Heinsbæk, Cerqueira, Charlotte, Linneberg, Allan, Grarup, Niels, Pedersen, Oluf, Hanse

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 1.44 MB

english, 2017