PMC Articles for MedGen (Select 507284) - PMC

Select item 4199921.

Contiguous Deletion of the X-Linked Adrenoleukodystrophy Gene (ABCD1) and DXS1357E: A Novel Neonatal Phenotype Similar to Peroxisomal Biogenesis Disorders

Deyanira Corzo, William Gibson, Kisha Johnson, Grant Mitchell, Guy LePage, Gerald F. Cox, Robin Casey, Carolyn Zeiss, Heidi Tyson, Garry R. Cutting, Gerald V. Raymond, Kirby D. Smith, Paul A. Watkins, Ann B. Moser, Hugo W. Moser, Steven J. Steinberg

Am J Hum Genet. 2002 Jun; 70(6): 1520–1531. Published online 2002 Apr 29. doi: 10.1086/340849

PMCID:: PMC419992

Article PDF–478K

Select item 104945072.

Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review

Oliver Heath, Dinusha Pandithan, James Pitt, Elena Savva, Laura Raiti, Jenny Bracken, Moya Vandeleur, Martin B. Delatycki, Joy Yaplito‐Lee, Winita Hardikar, Rebecca Halligan

JIMD Rep. 2023 Sep; 64(5): 337–345. Published online 2023 Aug 19. doi: 10.1002/jmd2.12390

PMCID:: PMC10494507

Article PDF–1.5M

Select item 84405203.

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

Sandra Whalen, Marie Shaw, Cyril Mignot, Delphine Héron, Sandra Chantot Bastaraud, Cecile Cieuta Walti, Jan Liebelt, Frances Elmslie, Patrick Yap, Jane Hurst, Elisabeth Forsythe, Brian Kirmse, Jillian Ozmore, Alessandro Mauro Spinelli, Olga Calabrese, Thierry Billette de Villemeur, Anne Claude Tabet, Jonathan Levy, Agnes Guet, Manoëlle Kossorotoff, Benjamin Kamien, Jenny Morton, Anne McCabe, Elise Brischoux-Boucher, Annick Raas-Rothschild, Antonella Pini, Renée Carroll, Jessica N. Hartley, Care4Rare Canada Consortium, Patrick Frosk, Anne Slavotinek, Kristen Truxal, Carroll Jennifer, Annelies Dheedene, Hong Cui, Vishal Kumar, Glen Thomson, Florence Riccardi, Jozef Gecz, Laurent Villard

Eur J Hum Genet. 2021 Sep; 29(9): 1405–1417. Published online 2021 Feb 18. doi: 10.1038/s41431-021-00821-0

PMCID:: PMC8440520

Article PDF–1.6M

Select item 37555814.

A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein

Masashi Morita, Junpei Kobayashi, Kozue Yamazaki, Kosuke Kawaguchi, Ayako Honda, Kenji Sugai, Nobuyuki Shimozawa, Reiji Koide, Tsuneo Imanaka

JIMD Rep. 2013; 10: 95–102. Published online 2013 Feb 12. doi: 10.1007/8904_2012_209

PMCID:: PMC3755581

Article PDF–488K

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