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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Anad F, Burn J, Matthews D, Cross I, Davison B C C, Mueller R, Sands M, Lillington D M, Eastham E: Alagille syndrome and deletion of 20p. J. Med. Genet. 27:729-737, 1990. [PMC free article: PMC1017275] [PubMed: 2074558]Case 2.46,XX,del(20)(p12 -> p13).Aberration: Terminal deletionMIM#: 118450Chromosomal Aneuploidy: 20p-Positive band
- Artavanis-Tsakonas S.: Alagille syndrome-a notch up for the notch receptor. Nature Genet. 16:212-213, 1997. [PubMed: 9207778]Also see article by Li et al (197) on page 243 of this issue.
Kamath B M, Bason L, Piccoli D A, Krantz I D, Spinner N B.: Consequences of JAG1 mutations. J. Med. Genet. 40:891-895, 2003. [PMC free article: PMC1735339] [PubMed: 14684686]
Krantz I D, Rand E B, Genin A, Hunt P, Jones M, Louis A A, Graham J M, Jr, Bhatt S, Piccoli D A, Spinner N B. : Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization. AJMG 70:80-86, 1997. [PubMed: 9129746]
Oda T, Elkahloun A G, Pike B L, Okajima K, Krantz I D, Genin A, Piccoli D A, Meltzer P S, Spinner N B, Collins F S, Chandrasekharappa S C.: Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nature Genet. 16:235-242, 1997. [PubMed: 9207787]The authors of the 1997 papers have concluded that the AGS is caused by haploinsufficiency of JAG1.
Spinner N B, Rand E B, Fortina P, Genin A, Taub R, Semeraro A, Piccoli D A: "Cytologically balanced t(2;20) in a two-generation family with Alagille syndrome: cytogenetic and molecular studies." AJHG 55:238-243, 1994. [PMC free article: PMC1918350] [PubMed: 8037203]Individual II-1:46,XY,t(2;20)(q21.3;p12).,Individuals III-1 and III-2:46,XX,der t(2;20)(q21.3;p12)pat.All three translocation carrier individuals have Alagille syndrome.56 patients were studied.The critical region lies between markers D20S41 and D20S162. Frequency of cytogenetic abnormalities is 2/56(3.6%); and molecular deletions is 3/45(6.7%).Aberration: Reciprocal translocationMIM#: 118450Chromosomal Aneuploidy: 20p-Index Terms: Alagille syndromePositive band - Same entry as in 01p221,02p160,04p150,18p110 (Boue and Gallano, 1984).
- Deleuze F, Hadchouel M.: Submicroscopic deletions are rare in Alagille syndrome. AJHG 59:477, 1996. [PMC free article: PMC1914723] [PubMed: 8755938]
Krantz I D, Piccoli D A, Spinner N B.: Alagille syndrome. J. Med. Genet. 34:152-157, 1997. [PMC free article: PMC1050871] [PubMed: 9039994]
Krantz I D.: Alagille syndrome: chipping away at the tip of the iceberg. AJMG 112:160-162, 2002. [PubMed: 12244549]
Laufer-Cahana A, Krantz I D, Bason L D, Lu F-M, Piccoli D A, Spinner N B.: Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p deletion. AJMG 112:190-193, 2002. [PubMed: 12244554]
Rand E B, Spinner N B, Piccoli D A, Whitington P F, Taub R.: Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12. AJHG 57:1068-1073, 1995. [PMC free article: PMC1801384] [PubMed: 7485156]
Rand E B, Taub R.: Reply to Deleuze and Hadchouel. AJHG 59:477-478, 1996.46,XX at 550 band level.ish del(20)(JAG1-)mat.,Mother=46,XX,del(20)[9/20]-blood.An 18-month-old patient is reported.Aberration: Interstitial deletionMIM#: 118450Chromosomal Aneuploidy: 20p-Index Terms: JAG1,Alagille syndromePositive band
- 20p120 - Chromosomal Variation in Man20p120 - Chromosomal Variation in Man
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