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Quoted phrase not found in phrase index: "Intellectual disability, X-linked 88"
Page 1
Deciphering the premature mortality in PIGA-CDG - An untold story.
Bayat A, Kløvgaard M, Johannesen KM, Barakat TS, Kievit A, Montomoli M, Parrini E, Pietrafusa N, Schelhaas J, van Slegtenhorst M, Miya K, Guerrini R, Tranebjærg L, Tümer Z, Rubboli G, Møller RS. Bayat A, et al. Epilepsy Res. 2021 Feb;170:106530. doi: 10.1016/j.eplepsyres.2020.106530. Epub 2020 Dec 9. Epilepsy Res. 2021. PMID: 33508693 Review.
OBJECTIVE: Congenital disorder of glycosylation (CDG) due to a defective phosphatidylinositol glycan anchor biosynthesis class A protein (PIGA) is a severe X-linked developmental and epileptic encephalopathy. Seizures are often treatment refractory, and patients hav …
OBJECTIVE: Congenital disorder of glycosylation (CDG) due to a defective phosphatidylinositol glycan anchor biosynthesis class A protein (PI …
Cognitive and adaptive behaviors associated with disease severity and genotype in patients with mucopolysaccharidosis II.
Yee KS, Alexanderian D, Merberg D, Natarajan M, Wang S, Wu Y, Whiteman DAH. Yee KS, et al. Mol Genet Metab. 2023 Nov;140(3):107652. doi: 10.1016/j.ymgme.2023.107652. Epub 2023 Jul 13. Mol Genet Metab. 2023. PMID: 37506513 Free article.
BACKGROUND: Mucopolysaccharidosis II (MPS II) is a rare, X-linked lysosomal storage disease caused by pathogenic variants of the iduronate-2-sulfatase gene (IDS) and is characterized by a highly variable disease spectrum. MPS II severity is difficult to predict …
BACKGROUND: Mucopolysaccharidosis II (MPS II) is a rare, X-linked lysosomal storage disease caused by pathogenic variants of t …
X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.
Coll MJ, Palau N, Camps C, Ruiz M, Pàmpols T, Girós M. Coll MJ, et al. Clin Genet. 2005 May;67(5):418-24. doi: 10.1111/j.1399-0004.2005.00423.x. Clin Genet. 2005. PMID: 15811009
In this study, we analyzed the ABCD1 gene in 80 X-linked adrenoleukodystrophy (X-ALD) patients from 62 unrelated families. ...Our results are also consistent with previous studies reporting the difficulty of predicting genotype-phenotype correlation....
In this study, we analyzed the ABCD1 gene in 80 X-linked adrenoleukodystrophy (X-ALD) patients from 62 unrelated families. ... …
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, Doco-Fenzy M, Landais E, Philippe C, Marle N, Callier P, Mosca-Boidron AL, Mugneret F, Le Meur N, Goldenberg A, Guerrot AM, Chambon P, Satre V, Coutton C, Jouk PS, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard ML, Addor MC, Lebon S, Martinet D, Alessandri JL, Doray B, Miguet M, Devys D, Saugier-Veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet AC, Thevenon J, Thauvin-Robinet C, Perreton N, Des Portes V, Faivre L. El Chehadeh S, et al. Clin Genet. 2017 Apr;91(4):576-588. doi: 10.1111/cge.12898. Epub 2017 Feb 16. Clin Genet. 2017. PMID: 27761913
These findings confirm that an abnormal phenotype, even severe, can be a rare event in females born to asymptomatic carrier mothers, making genetic counselling difficult in couples at risk in terms of prognosis, in particular in prenatal cases....
These findings confirm that an abnormal phenotype, even severe, can be a rare event in females born to asymptomatic carrier mothers, making …
Downregulation of myelination, energy, and translational genes in Menkes disease brain.
Liu PC, Chen YW, Centeno JA, Quezado M, Lem K, Kaler SG. Liu PC, et al. Mol Genet Metab. 2005 Aug;85(4):291-300. doi: 10.1016/j.ymgme.2005.04.007. Mol Genet Metab. 2005. PMID: 15923132
Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in a copper-transporting p-type ATPase (ATP7A) that normally delivers copper to the central nervous system. ...Thirty known genes were altered in both cortex and cereb …
Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in a copper-transporting p-type AT …