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Items: 8

1.
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper
Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3
PMCID:
PMC7497289
AbstractArticlePDF–2.5M
2.
Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy
Eric D Gaier, Inderneel Sahai, Janey L Wiggs, Brian McGeeney, Jodi Hoffman, Crandall Peeler
Ophthalmic Genet. Author manuscript; available in PMC 2021 Jan 13.
Published in final edited form as: Ophthalmic Genet. 2019 Dec; 40(6): 570–573. Published online 2020 Jan 13. doi: 10.1080/13816810.2019.1711428
PMCID:
PMC7050282
AbstractArticlePDF–140K
3.
Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review
Miriam Kessi, Jing Peng, Lifen Yang, Juan Xiong, Haolin Duan, Nan Pang, Fei Yin
BMC Genet. 2018; 19: 40. Published online 2018 Jul 6. doi: 10.1186/s12863-018-0628-5
PMCID:
PMC6034250
AbstractArticlePDF–589K
4.
Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation
Stephanie C. Bourne, Katelin N. Townsend, Casper Shyr, Allison Matthews, Scott A. Lear, Raj Attariwala, Anna Lehman, Wyeth W. Wasserman, Clara van Karnebeek, Graham Sinclair, Hilary Vallance, William T. Gibson
Cold Spring Harb Mol Case Stud. 2017 Jan; 3(1): a001156. doi: 10.1101/mcs.a001156
PMCID:
PMC5171695
AbstractArticlePDF–896K
5.
Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria
Christina Lam, Linda K. Gallo, Richard Dineen, Carla Ciccone, Heidi Dorward, George E. Hoganson, Lynne Wolfe, William A. Gahl, Marjan Huizing
Mol Genet Metab Rep. 2014; 1: 114–123. Published online 2014 Mar 13. doi: 10.1016/j.ymgmr.2014.02.003
PMCID:
PMC3987911
AbstractArticlePDF–918K
6.
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co‐chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome‐like condition
K M Davey, J S Parboosingh, D R McLeod, A Chan, R Casey, P Ferreira, F F Snyder, P J Bridge
J Med Genet. 2006 May; 43(5): 385–393. Published online 2005 Aug 3. doi: 10.1136/jmg.2005.036657
PMCID:
PMC2564511
AbstractArticlePDF–1.5M
7.
Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews
Yair Anikster, Robert Kleta, Avraham Shaag, William A. Gahl, Orly Elpeleg
Am J Hum Genet. 2001 Dec; 69(6): 1218–1224. Published online 2001 Oct 19. doi: 10.1086/324651
PMCID:
PMC1235533
AbstractArticlePDF–249K
8.
3-Methylglutaconic Aciduria Type I Is Caused by Mutations in AUH
Lodewijk IJlst, Ference J. Loupatty, Jos P. N. Ruiter, Marinus Duran, Willy Lehnert, Ronald J. A. Wanders
Am J Hum Genet. 2002 Dec; 71(6): 1463–1466. Published online 2002 Nov 14. doi: 10.1086/344712
Correction in:
Am J Hum Genet. 2003 Sep; 73(3): 709.
PMCID:
PMC378594
AbstractArticlePDF–163K

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