hereditary cerebellarataxia

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  • Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis.
  • Horpaopan S1, Spier I, Zink AM, Altmüller J, Holzapfel S, Laner A, Vogt S, Uhlhaas S, Heilmann S, Stienen D, Pasternack SM, Keppler K, Adam R, Kayser K, Moebus S, Draaken M, Degenhardt F, Engels H, Hofmann A, Nöthen MM, Steinke V, Perez-Bouza A, Herms S, Holinski-Feder E, Fröhlich H, Thiele H, Hoffmann P, Aretz S.
  • International journal of cancer. Journal international du cancer.Int J Cancer.2015 Mar 15;136(6):E578-89. doi: 10.1002/ijc.29215. Epub 2014 Sep 30.
  • To uncover novel causative genes in patients with unexplained adenomatous polyposis, a model disease for colorectal cancer, we performed a genome-wide analysis of germline copy number variants (CNV) in a large, well characterized APC and MUTYH mutation negative patient cohort followed by a targeted
  • PMID 25219767
  • The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: Insights into pathogenesis.
  • Sgariglia F1, Pedrini E2, Bradfield JP3, Bhatti TR4, D'Adamo P5, Dormans JP1, Gunawardena AT1, Hakonarson H6, Hecht JT7, Sangiorgi L2, Pacifici M1, Enomoto-Iwamoto M1, Grant SF8.
  • Bone.Bone.2015 Mar;72:123-7. doi: 10.1016/j.bone.2014.11.024. Epub 2014 Dec 9.
  • Hereditary Multiple Exostoses (HME) is an autosomal-dominant disorder characterized by benign cartilage tumors (exostoses) forming near the growth plates, leading to severe health problems. EXT1 and EXT2 are the two genes known to harbor heterozygous loss-of-function mutations that account for the v
  • PMID 25498973


hereditary cerebellar ataxia n. A disease of later childhood and early adult life marked by ataxic gait, hesitating and explosive speech, nystagmus, and sometimes optic neuritis. hereditary cerebellar ataxia AAA syndrome An AR ...
Hereditary cerebellar ataxia definition at, a free online dictionary with pronunciation, synonyms and translation. Look it up now! Added to Favorites Dictionary Thesaurus Word Dynamo Quotes Reference Translator ...


Spinocerebellar DegenerationsReuben - Non-Hereditary Cerebellar Ataxia hqdefault.jpgHereditary Cerebellar Ataxia,




  • adj.
  • 遺伝性の、遺伝の
heredityheritableinheritinheritableinheritable characterinheritanceinherited

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「世襲の,親譲りの / 遺伝的な,遺伝性の」