Literature DB >> 1583641

Screening of microdeletions of chromosome 20 in patients with Alagille syndrome.

C Desmaze1, J F Deleuze, A M Dutrillaux, G Thomas, M Hadchouel, A Aurias.   

Abstract

We report a cytogenetic and molecular study of a series of patients with Alagille syndrome. All 14 patients were studied with high resolution banding techniques and eight of them were also analysed with non-radioactive in situ hybridisation of the cosmid probe D20S6. Seven of these eight patients were also studied for allelic losses at the D20S6 locus. No microdeletion of chromosome 20 was found in this series.

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Year:  1992        PMID： 1583641      PMCID： PMC1015919          DOI： 10.1136/jmg.29.4.233

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  9 in total

Review 1.  Alagille syndrome and deletion of 20p.

Authors:  F Anad; J Burn; D Matthews; I Cross; B C Davison; R Mueller; M Sands; D M Lillington; E Eastham
Journal:  J Med Genet       Date:  1990-12       Impact factor: 6.318

2.  A one-step efficient and specific non-radioactive non-fluorescent method for in situ hybridization of banded chromosomes.

Authors:  F R Zhang; R Heilig; G Thomas; A Aurias
Journal:  Chromosoma       Date:  1990-10       Impact factor: 4.316

Review 3.  Contiguous gene syndromes: a component of recognizable syndromes.

Authors:  R D Schmickel
Journal:  J Pediatr       Date:  1986-08       Impact factor: 4.406

4.  Molecular cytogenetics: toward dissection of the contiguous gene syndromes.

Authors:  B S Emanuel
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

5.  del(20p) with manifestations of arteriohepatic dysplasia.

Authors:  J L Byrne; M J Harrod; J M Friedman; P N Howard-Peebles
Journal:  Am J Med Genet       Date:  1986-08

6.  Localization and linkage of three polymorphic DNA sequences on human chromosome 20.

Authors:  P J Goodfellow; A M Duncan; L A Farrer; J J Holden; B N White; J R Kidd; K K Kidd; N E Simpson
Journal:  Cytogenet Cell Genet       Date:  1987

7.  Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases.

Authors:  D Alagille; A Estrada; M Hadchouel; M Gautier; M Odièvre; J P Dommergues
Journal:  J Pediatr       Date:  1987-02       Impact factor: 4.406

8.  Interstitial deletion of the short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome).

Authors:  F Zhang; J F Deleuze; A Aurias; A M Dutrillaux; R N Hugon; D Alagille; G Thomas; M Hadchouel
Journal:  J Pediatr       Date:  1990-01       Impact factor: 4.406

9.  Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome).

Authors:  S Schnittger; C Höfers; P Heidemann; F Beermann; I Hansmann
Journal:  Hum Genet       Date:  1989-10       Impact factor: 4.132
  9 in total
  8 in total

Review 1.  Alagille syndrome.

Authors:  I D Krantz; D A Piccoli; N B Spinner
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

2.  Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: atypical Alagille syndrome?

Authors:  K Devriendt; L Dooms; W Proesmans; F de Zegher; V Desmet; E Eggermont
Journal:  Eur J Pediatr       Date:  1996-02       Impact factor: 3.183

3.  Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization.

Authors:  C Desmaze; P Scambler; M Prieur; S Halford; D Sidi; F Le Deist; A Aurias
Journal:  Hum Genet       Date:  1993-02       Impact factor: 4.132

4.  Human hepatic organoids for the analysis of human genetic diseases.

Authors:  Yuan Guan; Dan Xu; Phillip M Garfin; Ursula Ehmer; Melissa Hurwitz; Greg Enns; Sara Michie; Manhong Wu; Ming Zheng; Toshihiko Nishimura; Julien Sage; Gary Peltz
Journal:  JCI Insight       Date:  2017-09-07

5.  [Endocrinologic and metabolic complications of Alagille syndrome].

Authors:  L C Hofbauer; A Mrozek-Lasota; T Jelinek; H D Schworm; D Zimmermann; A E Heufelder
Journal:  Med Klin (Munich)       Date:  1997-09-15

6.  Deleted chromosome 20 from a patient with Alagille syndrome isolated in a cell hybrid through leucine transport selection: study of three candidate genes.

Authors:  J F Deleuze; S Dhorne; J Hazan; E Borghi; N Raynaud; N Pollet; M Meunier-Rotival; J Deschatrette; D Alagille; M Hadchouel
Journal:  Mamm Genome       Date:  1994-11       Impact factor: 2.957

7.  Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies.

Authors:  N B Spinner; E B Rand; P Fortina; A Genin; R Taub; A Semeraro; D A Piccoli
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

8.  Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family.

Authors:  F A Hol; B C Hamel; M P Geurds; I Hansmann; F A Nabben; O Daniëls; E C Mariman
Journal:  Hum Genet       Date:  1995-06       Impact factor: 4.132
  8 in total

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