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Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 13"
Page 1
Two cases of DYNC1H1 mutations with intractable epilepsy.
Matsumoto A, Kojima K, Miya F, Miyauchi A, Watanabe K, Iwamoto S, Kawai K, Kato M, Takahashi Y, Yamagata T. Matsumoto A, et al. Brain Dev. 2021 Sep;43(8):857-862. doi: 10.1016/j.braindev.2021.05.005. Epub 2021 Jun 3. Brain Dev. 2021. PMID: 34092403
BACKGROUND: The DYNC1H1 gene encodes the heavy chain of cytoplasmic dynein 1, a core structure of the cytoplasmic dynein complex. Dominant DYNC1H1 mutations are implicated in Charcot-Marie-Tooth disease, axonal, type 20, spinal muscular atrophy, lower extremity-predominant …
BACKGROUND: The DYNC1H1 gene encodes the heavy chain of cytoplasmic dynein 1, a core structure of the cytoplasmic dynein complex. Dominan …
Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool.
Amudhavalli SM, Hanson R, Angle B, Bontempo K, Gripp KW. Amudhavalli SM, et al. Am J Med Genet A. 2018 Jul;176(7):1648-1656. doi: 10.1002/ajmg.a.38832. Am J Med Genet A. 2018. PMID: 30160832
Ayme-Gripp syndrome (AGS) is an autosomal dominant multisystem disorder caused by specific heterozygous variants in MAF. ...AGS is characterized by congenital cataracts, sensorineural hearing loss, short stature, intellectual disability, and distinctiv …
Ayme-Gripp syndrome (AGS) is an autosomal dominant multisystem disorder caused by specific heterozygous variants in MAF. ...AG …
Cluster of differentiation 8 and programmed cell death ligand 1 expression in triple-negative breast cancer combined with autosomal dominant polycystic kidney disease and tuberous sclerosis complex: a case report.
Gonda K, Akama T, Nakamura T, Hashimoto E, Kyoya N, Rokkaku Y, Maejima Y, Horita S, Tachibana K, Abe N, Ohtake T, Shimomura K, Kono K, Saji S, Takenoshita S, Higashihara E. Gonda K, et al. J Med Case Rep. 2019 Dec 24;13(1):381. doi: 10.1186/s13256-019-2274-6. J Med Case Rep. 2019. PMID: 31870441 Free PMC article.
BACKGROUND: Autosomal dominant polycystic kidney disease is defined as an inherited disorder characterized by renal cyst formation due to mutations in the PKD1 or PKD2 gene, whereas tuberous sclerosis complex is an autosomal dominant neurocutaneous syn …
BACKGROUND: Autosomal dominant polycystic kidney disease is defined as an inherited disorder characterized by renal cyst forma …
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.
Jones AC, Daniells CE, Snell RG, Tachataki M, Idziaszczyk SA, Krawczak M, Sampson JR, Cheadle JP. Jones AC, et al. Hum Mol Genet. 1997 Nov;6(12):2155-61. doi: 10.1093/hmg/6.12.2155. Hum Mol Genet. 1997. PMID: 9328481
Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by the development of hamartomatous growths in many organs. ...Mutations were identified in 9/24 familial cases, but in only 13/147 sporadic cases. In contrast, a limited screen revealed …
Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by the development of hamartomatous growths in many o …