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X-chromosome inactivation: implications in human disease.
Pereira G, Dória S. Pereira G, et al. J Genet. 2021;100:63. J Genet. 2021. PMID: 34553695 Free article. Review.
In this mini review, we discuss the known mechanisms associated with XCI, when and how does it initiate, spreads and maintain, as well as the mechanisms that allow some genes to escape from it. We address the skewed XCI, condition in which the process are not fully randomi …
In this mini review, we discuss the known mechanisms associated with XCI, when and how does it initiate, spreads and maintain, as well as th …
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, Jansen AC, Keymolen K, Stouffs K, Jennesson M, Poirsier C, Lesca G, Depienne C, Nava C, Rastetter A, Curie A, Cuisset L, Des Portes V, Milh M, Charles P, Mignot C, Héron D. Gras M, et al. J Med Genet. 2024 Jan 19;61(2):103-108. doi: 10.1136/jmg-2023-109203. J Med Genet. 2024. PMID: 37879892 Review.
While the clinical spectrum of ARX-related disorders is well described in males, from X linked lissencephaly with abnormal genitalia syndrome to syndromic and non-syndromic intellectual disability (ID), its phenotypic delineation in females is incomple …
While the clinical spectrum of ARX-related disorders is well described in males, from X linked lissencephaly with abnormal gen …
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A. Lissens W, et al. Hum Mutat. 2000;15(3):209-19. doi: 10.1002/(SICI)1098-1004(200003)15:3<209::AID-HUMU1>3.0.CO;2-K. Hum Mutat. 2000. PMID: 10679936 Review.
However, the great majority of PDH complex deficiencies result from mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1). ...The mutation was never present in the somatic cells of the father; in 63 mothers studied, 16 were carriers …
However, the great majority of PDH complex deficiencies result from mutations in the X-linked pyruvate dehydrogenase (E1) alph …
Genetics of non-syndromic autosomal recessive mental retardation.
Afroze B, Chaudhry B. Afroze B, et al. J Pak Med Assoc. 2013 Jan;63(1):106-10. J Pak Med Assoc. 2013. PMID: 23865144 Review.
Non-syndromic mental retardation is one of the most serious neurodevelopmental disorders, which has a serious impact not only on the affected individuals and their families but also on the health care system and society. Previously research has been more focused on the X- …
Non-syndromic mental retardation is one of the most serious neurodevelopmental disorders, which has a serious impact not only on the affecte …
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Mercati O, Abi Warde MT, Lina-Granade G, Rio M, Heide S, de Lonlay P, Ceballos-Picot I, Robert MP, Couloigner V, Beltrand J, Boddaert N, Rodriguez D, Rubinato E, Lapierre JM, Merlette C, Sanquer S, Rötig A, Prokisch H, Lyonnet S, Loundon N, Kaplan J, Bonnefont JP, Munnich A, Besmond C, Jonard L, Marlin S. Mercati O, et al. Eur J Med Genet. 2020 Nov;63(11):104033. doi: 10.1016/j.ejmg.2020.104033. Epub 2020 Aug 8. Eur J Med Genet. 2020. PMID: 32781272 Review.
MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.
Rubinato E, Rondeau S, Giuliano F, Kossorotoff M, Parodi M, Gherbi S, Steffan J, Jonard L, Marlin S. Rubinato E, et al. Eur J Med Genet. 2020 Mar;63(3):103768. doi: 10.1016/j.ejmg.2019.103768. Epub 2019 Sep 16. Eur J Med Genet. 2020. PMID: 31536828 Review.
Mutations in MED12 gene have been described in association with syndromic and non-syndromic X-linked intellectual disability (XLID). Up to date at least three distinct XLID syndromes have been described: FG syndrome, Lujan-Fryns syndrome (LS) and Ohdo …
Mutations in MED12 gene have been described in association with syndromic and non-syndromic X-linked intellectual di