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The following term was not found in PubMed: disability-cerebellar
Page 1
Kabuki Syndrome-Clinical Review with Molecular Aspects.
Boniel S, Szymańska K, Śmigiel R, Szczałuba K. Boniel S, et al. Genes (Basel). 2021 Mar 25;12(4):468. doi: 10.3390/genes12040468. Genes (Basel). 2021. PMID: 33805950 Free PMC article. Review.
De novo or inherited pathogenic/likely pathogenic variants in the KMT2D gene are the most common cause of KS and account for up to 75% of patients. Variants in KDM6A cause up to 5% of cases (X-linked dominant inheritance), while the etiology of about 20% of cases re …
De novo or inherited pathogenic/likely pathogenic variants in the KMT2D gene are the most common cause of KS and account for up to 75% of pa …
Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms.
Wang YR, Xu NX, Wang J, Wang XM. Wang YR, et al. World J Pediatr. 2019 Dec;15(6):528-535. doi: 10.1007/s12519-019-00309-4. Epub 2019 Oct 5. World J Pediatr. 2019. PMID: 31587141 Review.
BACKGROUND: Kabuki syndrome (KS), is a infrequent inherited malformation syndrome caused by mutations in a H3 lysine 4 methylase (KMT2D) or an X-linked histone H3 lysine 27 demethylase (UTX/KDM6A). ...Cancer risks of Kabuki syndrome was reviewed …
BACKGROUND: Kabuki syndrome (KS), is a infrequent inherited malformation syndrome caused by mutations in a H3 lysine 4 methyla …
NAA10-related syndrome.
Wu Y, Lyon GJ. Wu Y, et al. Exp Mol Med. 2018 Jul 27;50(7):1-10. doi: 10.1038/s12276-018-0098-x. Exp Mol Med. 2018. PMID: 30054457 Free PMC article. Review.
NAA10-related syndrome is an X-linked condition with a broad spectrum of findings ranging from a severe phenotype in males with p.Ser37Pro in NAA10, originally described as Ogden syndrome, to the milder NAA10-related intellectual disability foun …
NAA10-related syndrome is an X-linked condition with a broad spectrum of findings ranging from a severe phenotype in ma …
Baraitser-Winter cerebrofrontofacial syndrome.
Yates TM, Turner CL, Firth HV, Berg J, Pilz DT. Yates TM, et al. Clin Genet. 2017 Jul;92(1):3-9. doi: 10.1111/cge.12864. Epub 2016 Nov 30. Clin Genet. 2017. PMID: 27625340 Review.
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) (BRWS; MIM #243310, 614583) is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/tr …
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) (BRWS; MIM #243310, 614583) is a rare developmental disorder affecting multiple …
MED12 related disorders.
Graham JM Jr, Schwartz CE. Graham JM Jr, et al. Am J Med Genet A. 2013 Nov;161A(11):2734-40. doi: 10.1002/ajmg.a.36183. Epub 2013 Oct 10. Am J Med Genet A. 2013. PMID: 24123922 Free PMC article. Review.
As a multiprotien complex, Mediator regulates signals involved in cell growth, development, and differentiation, and it is involved in a protein network required for extraneuronal gene silencing and also functions as a direct suppressor of Gli3-dependent Sonic hedgehog signaling. …
As a multiprotien complex, Mediator regulates signals involved in cell growth, development, and differentiation, and it is involved in a pro …
Ocular manifestations in the X-linked intellectual disability syndromes.
Couser NL, Masood MM, Aylsworth AS, Stevenson RE. Couser NL, et al. Ophthalmic Genet. 2017 Sep-Oct;38(5):401-412. doi: 10.1080/13816810.2016.1247459. Epub 2017 Jan 23. Ophthalmic Genet. 2017. PMID: 28112979 Review.
Genetic causes of ID are often accompanied by recognizable syndromal patterns. The vision apparatus is a sensory extension of the brain, and individuals with intellectual disabilities frequently have coexisting abnormalities of ocular structures and the visua …
Genetic causes of ID are often accompanied by recognizable syndromal patterns. The vision apparatus is a sensory extension of the bra …
Fragile X syndrome and connective tissue dysregulation.
Ramírez-Cheyne JA, Duque GA, Ayala-Zapata S, Saldarriaga-Gil W, Hagerman P, Hagerman R, Payán-Gómez C. Ramírez-Cheyne JA, et al. Clin Genet. 2019 Feb;95(2):262-267. doi: 10.1111/cge.13469. Epub 2018 Nov 27. Clin Genet. 2019. PMID: 30414172 Review.
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disabilities and autism spectrum disorders, and it is an X-linked disorder in which there is a deficiency of the fragile X mental retardation 1 protein. ...Several proteins hav …
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disabilities and autism spectrum disorders, and it …
Epigenetic Causes of Overgrowth Syndromes.
Lui JC, Baron J. Lui JC, et al. J Clin Endocrinol Metab. 2024 Jan 18;109(2):312-320. doi: 10.1210/clinem/dgad420. J Clin Endocrinol Metab. 2024. PMID: 37450557 Free PMC article. Review.
These disorders often present with tall stature, macrocephaly, and/or abdominal organomegaly and are sometimes associated with additional phenotypic abnormalities such as intellectual disability and increased cancer risk. As the genetic etiology of these disorders h …
These disorders often present with tall stature, macrocephaly, and/or abdominal organomegaly and are sometimes associated with additional ph …
Fragile X syndrome.
Garber KB, Visootsak J, Warren ST. Garber KB, et al. Eur J Hum Genet. 2008 Jun;16(6):666-72. doi: 10.1038/ejhg.2008.61. Epub 2008 Apr 9. Eur J Hum Genet. 2008. PMID: 18398441 Free PMC article. Review.
Fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is associated with intellectual and emotional disabilities ranging from learning problems to mental retardation, and mood instability to autism. ...The resulting over abundance …
Fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is associated with intellectual and e …
Seizures and X-linked intellectual disability.
Stevenson RE, Holden KR, Rogers RC, Schwartz CE. Stevenson RE, et al. Eur J Med Genet. 2012 May;55(5):307-12. doi: 10.1016/j.ejmg.2012.01.017. Epub 2012 Feb 8. Eur J Med Genet. 2012. PMID: 22377486 Free PMC article. Review.
Intellectual disability occurs as an isolated X-linked trait and as a component of recognizable X-linked syndromes in the company of somatic, metabolic, neuromuscular, or behavioral abnormalities. Seizures accompany intellectual …
Intellectual disability occurs as an isolated X-linked trait and as a component of recognizable X-linked …
81 results