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1999 3
2000 6
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245 results

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Quoted phrase not found in phrase index: "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome"
Page 1
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 …
Epigenetic regulation of autophagy-related genes: Implications for neurodevelopmental disorders.
Lewerissa EI, Nadif Kasri N, Linda K. Lewerissa EI, et al. Autophagy. 2024 Jan;20(1):15-28. doi: 10.1080/15548627.2023.2250217. Epub 2023 Sep 6. Autophagy. 2024. PMID: 37674294 Free PMC article. Review.
Intriguingly, several of the NDD-linked chromatinopathy genes have been shown to regulate autophagy-related genes, albeit in non-neuronal contexts. ...We here summarize NDD-related chromatinopathy genes that are known to regulate transcriptional regulation of …
Intriguingly, several of the NDD-linked chromatinopathy genes have been shown to regulate autophagy-related genes, albeit in n …
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.
Multiple monogenic overgrowth syndromes result from variants in epigenetic regulators: variants in histone methyltransferases NSD1 and EZH2 cause Sotos syndrome and Weaver syndrome, respectively, variants in DNA methyltransferase DNMT3A cause Tatton-Brown-Rah …
Multiple monogenic overgrowth syndromes result from variants in epigenetic regulators: variants in histone methyltransferases NSD1 an …
X-Linked Epilepsies: A Narrative Review.
Bernardo P, Cuccurullo C, Rubino M, De Vita G, Terrone G, Bilo L, Coppola A. Bernardo P, et al. Int J Mol Sci. 2024 Apr 8;25(7):4110. doi: 10.3390/ijms25074110. Int J Mol Sci. 2024. PMID: 38612920 Free PMC article. Review.
X-linked epilepsies are a heterogeneous group of epileptic conditions, which often overlap with X-linked intellectual disability. To date, various X-linked genes responsible for epilepsy syndromes and/or developmental …
X-linked epilepsies are a heterogeneous group of epileptic conditions, which often overlap with X-linked inte …
ATR-X syndrome: genetics, clinical spectrum, and management.
León NY, Harley VR. León NY, et al. Hum Genet. 2021 Dec;140(12):1625-1634. doi: 10.1007/s00439-021-02361-5. Epub 2021 Sep 15. Hum Genet. 2021. PMID: 34524523
ATR-X, an acronym for alpha thalassemia and mental retardation X-linked, syndrome is a congenital condition predominantly affecting males, characterized by mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalie …
ATR-X, an acronym for alpha thalassemia and mental retardation X-linked, syndrome is a congenital condition predominant …
The neurobiology of X-linked intellectual disability.
Bassani S, Zapata J, Gerosa L, Moretto E, Murru L, Passafaro M. Bassani S, et al. Neuroscientist. 2013 Oct;19(5):541-52. doi: 10.1177/1073858413493972. Epub 2013 Jul 2. Neuroscientist. 2013. PMID: 23820068 Review.
X-linked intellectual disability (XLID) affects 1% to 3% of the population. ...XLID arises from mutations on the X chromosome; to date, 102 XLID genes have been identified. The proteins encoded by XLID genes are involved in higher brain function …
X-linked intellectual disability (XLID) affects 1% to 3% of the population. ...XLID arises from mutations on the X chro …
Fragile X syndrome.
Laxova R. Laxova R. Adv Pediatr. 1994;41:305-42. Adv Pediatr. 1994. PMID: 7992687 Review.
It is inherited in an atypical X-linked dominant way and affects about 1 in 1000 males and 1 in 2000 females; about 1 in 700 females is a carrier. 3. ...Twenty percent of males with the mutation are phenotypically and intellectually unaffected. They ae called …
It is inherited in an atypical X-linked dominant way and affects about 1 in 1000 males and 1 in 2000 females; about 1 in 700 f …
Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder.
Gonzalez JN, Goldman S, Carter MT, Bain JM. Gonzalez JN, et al. Genes (Basel). 2023 May 26;14(6):1154. doi: 10.3390/genes14061154. Genes (Basel). 2023. PMID: 37372334 Free PMC article.
Rett Syndrome (RTT) is a neurodevelopmental disorder with a prevalence of 1:10,000 to 15,000 females worldwide. ...Other genetic etiologies have emerged with similar clinical characteristics to RTT Syndrome. Our team has characterized HNRNPH2-related neurodevelopmen …
Rett Syndrome (RTT) is a neurodevelopmental disorder with a prevalence of 1:10,000 to 15,000 females worldwide. ...Other genetic etio …
Fragile X and X-linked intellectual disability: four decades of discovery.
Lubs HA, Stevenson RE, Schwartz CE. Lubs HA, et al. Am J Hum Genet. 2012 Apr 6;90(4):579-90. doi: 10.1016/j.ajhg.2012.02.018. Am J Hum Genet. 2012. PMID: 22482801 Free PMC article. Review.
X-Linked intellectual disability (XLID) accounts for 5%-10% of intellectual disability in males. ...A large number of families with nonsyndromal XLID, 95 of which have been regionally mapped, have been described as well. Mutations in 102 X-li …
X-Linked intellectual disability (XLID) accounts for 5%-10% of intellectual disability in males. ...A large numb …
X-linked disorders with cerebellar dysgenesis.
Zanni G, Bertini ES. Zanni G, et al. Orphanet J Rare Dis. 2011 May 15;6:24. doi: 10.1186/1750-1172-6-24. Orphanet J Rare Dis. 2011. PMID: 21569638 Free PMC article. Review.
X-linked disorders with cerebellar dysgenesis (XLCD) are a genetically heterogeneous and clinically variable group of disorders in which the hallmark is a cerebellar defect (hypoplasia, atrophy or dysplasia) visible on brain imaging, caused by gene mutations or geno …
X-linked disorders with cerebellar dysgenesis (XLCD) are a genetically heterogeneous and clinically variable group of disorder …
245 results