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Page 1
Genetics of retinoblastoma.
Vogel F. Vogel F. Hum Genet. 1979 Nov 1;52(1):1-54. doi: 10.1007/BF00284597. Hum Genet. 1979. PMID: 393614 Review.
The genetic basis of retinoblastoma is reviewed and the following conclusions are drawn: 1) The mode of inheritance of the hereditary variety of retinoblastoma (R) is autosomal dominant with about 90% penetrance. 2) About 68% of inherited cases are bilateral, and ab …
The genetic basis of retinoblastoma is reviewed and the following conclusions are drawn: 1) The mode of inheritance of the hereditary variet …
Expansion of the genotypic and phenotypic spectrum of CTCF-related disorder guides clinical management: 43 new subjects and a comprehensive literature review.
Valverde de Morales HG, Wang HV, Garber K, Cheng X, Corces VG, Li H. Valverde de Morales HG, et al. Am J Med Genet A. 2023 Mar;191(3):718-729. doi: 10.1002/ajmg.a.63065. Epub 2022 Dec 1. Am J Med Genet A. 2023. PMID: 36454652 Free PMC article. Review.
Monoallelic variants of CTCF cause an autosomal dominant neurodevelopmental disorder with a wide range of features, including impacts on the brain, growth, and craniofacial development. ...The cardinal clinical features in subjects with CRD included intellectual …
Monoallelic variants of CTCF cause an autosomal dominant neurodevelopmental disorder with a wide range of features, including …
Genetics of the Costello syndrome.
Lurie IW. Lurie IW. Am J Med Genet. 1994 Sep 1;52(3):358-9. doi: 10.1002/ajmg.1320520321. Am J Med Genet. 1994. PMID: 7528974 Review.
Although Costello syndrome is considered to be an autosomal recessive disorder, review of 20 families demonstrated that the 37 sibs of the probands were all normal. ...Even if there were no normal offspring in these latter families, the occurrence of the Costello syndrome …
Although Costello syndrome is considered to be an autosomal recessive disorder, review of 20 families demonstrated that the 37 sibs o …
Contiguous gene deletion of chromosome 2p16.3-p21 as a cause of Lynch syndrome.
Salo-Mullen EE, Lynn PB, Wang L, Walsh M, Gopalan A, Shia J, Tran C, Man FY, McBride S, Schattner M, Zhang L, Weiser MR, Stadler ZK. Salo-Mullen EE, et al. Fam Cancer. 2018 Jan;17(1):71-77. doi: 10.1007/s10689-017-0006-x. Fam Cancer. 2018. PMID: 28555354 Free PMC article. Review.
Although commonly associated with clinical features such as intellectual disability and congenital anomalies, contiguous gene deletions may also result in cancer predisposition syndromes. ...The patient had intellectual disability and presented with a …
Although commonly associated with clinical features such as intellectual disability and congenital anomalies, contiguous gene …
Spinocerebellar ataxia with mental retardation (SCA13).
Stevanin G, Durr A, Benammar N, Brice A. Stevanin G, et al. Cerebellum. 2005;4(1):43-6. doi: 10.1080/14734220510007923. Cerebellum. 2005. PMID: 15895558 Review.
Spinocerebellar ataxia 13 is a slowly progressive and relatively pure autosomal dominant cerebellar ataxia with childhood onset and mental deficiency. ...
Spinocerebellar ataxia 13 is a slowly progressive and relatively pure autosomal dominant cerebellar ataxia with childhood onse …
Clinical features of patients with Yin Yang 1 deficiency causing Gabriele-de Vries syndrome: A new case and review of the literature.
Khamirani HJ, Zoghi S, Namdar ZM, Kamal N, Dianatpour M, Tabei SMB, Mohammadi S, Dehghanian F, Farbod Z, Dastgheib SA. Khamirani HJ, et al. Ann Hum Genet. 2022 Jan;86(1):52-62. doi: 10.1111/ahg.12448. Epub 2021 Nov 3. Ann Hum Genet. 2022. PMID: 34729769 Review.
BACKGROUND: Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic variants in YY1. ...RESULTS: The proband presented with delayed motor and speech development, ataxia, abnormal gait, autistic behavior, brain atrophy, an …
BACKGROUND: Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic variants in Y …