PMC Articles for MedGen (Select 1676539) - PMC

Select item 93378121.

ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences

Dulika Sumathipala, Petter Strømme, Zohreh Fattahi, Torben Lüders, Ying Sheng, Kimia Kahrizi, Ingunn Holm Einarsen, Jennifer L Sloan, Hossein Najmabadi, Lambert van den Heuvel, Ron A Wevers, Sergio Guerrero-Castillo, Lars Mørkrid, Vassili Valayannopoulos, Paul Hoff Backe, Charles P Venditti, Clara D van Karnebeek, Hilde Nilsen, Eirik Frengen, Doriana Misceo

Brain. 2022 Jul; 145(7): 2602–2616. Published online 2022 Feb 1. doi: 10.1093/brain/awac034

PMCID:: PMC9337812

Article PDF–1.1M

Select item 74379392.

Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report

Andrés López-Cortés, Ana Karina Zambrano, Patricia Guevara-Ramírez, Byron Albuja Echeverría, Santiago Guerrero, Eliana Cabascango, Andy Pérez-Villa, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, Verónica Yumiceba, Gabriela Pérez-M, Paola E. Leone, César Paz-y-Miño

BMC Med Genomics. 2020; 13: 113. Published online 2020 Aug 17. doi: 10.1186/s12920-020-00764-3

PMCID:: PMC7437939

Article PDF–1.8M

Select item 72038613.

Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations

You-Kyung Lee, Soo-Kyeong Lee, Suin Choi, Yang Hoon Huh, Ji-Hye Kwak, Yong-Seok Lee, Deok-Jin Jang, Jae-Hyung Lee, Kyungmin Lee, Bong-Kiun Kaang, Chae-Seok Lim, Jin-A Lee

Mol Brain. 2020; 13: 69. Published online 2020 May 6. doi: 10.1186/s13041-020-00611-7

PMCID:: PMC7203861

Article PDF–755K

Select item 17352404.

Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes

A Slavotinek, C Tifft

J Med Genet. 2002 Sep; 39(9): 623–633. doi: 10.1136/jmg.39.9.623

PMCID:: PMC1735240

Summary PDF–167K

Select item 17343785.

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

P Beales, N Elcioglu, A Woolf, D Parker, F Flinter

J Med Genet. 1999 Jun; 36(6): 437–446.

PMCID:: PMC1734378

Summary PDF–182K

Select item 12355596.

Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan

Martin Brockington, Derek J. Blake, Paola Prandini, Susan C. Brown, Silvia Torelli, Matthew A. Benson, Chris P. Ponting, Brigitte Estournet, Norma B. Romero, Eugenio Mercuri, Thomas Voit, Caroline A. Sewry, Pascale Guicheney, Francesco Muntoni

Am J Hum Genet. 2001 Dec; 69(6): 1198–1209. Published online 2001 Oct 8. doi: 10.1086/324412

PMCID:: PMC1235559

Article PDF–1.0M

Select item 12260467.

Disorders of Peroxisome Biogenesis Due to Mutations in PEX1: Phenotypes and PEX1 Protein Levels

Claudia Walter, Jeannette Gootjes, Petra A. Mooijer, Herma Portsteffen, Christina Klein, Hans R. Waterham, Peter G. Barth, Jörg T. Epplen, Wolf-H. Kunau, Ronald J. A. Wanders, Gabriele Dodt

Am J Hum Genet. 2001 Jul; 69(1): 35–48. Published online 2001 Jun 1. doi: 10.1086/321265

PMCID:: PMC1226046

Article PDF–857K

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