Literature DB >> 3016222

Contiguous gene syndromes: a component of recognizable syndromes.

R D Schmickel.   

Abstract

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Year:  1986        PMID: 3016222     DOI: 10.1016/s0022-3476(86)80377-8

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


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  90 in total

1.  N-ethyl-N-nitrosourea mutagenesis of a 6- to 11-cM subregion of the Fah-Hbb interval of mouse chromosome 7: Completed testing of 4557 gametes and deletion mapping and complementation analysis of 31 mutations.

Authors:  E M Rinchik; D A Carpenter
Journal:  Genetics       Date:  1999-05       Impact factor: 4.562

2.  A sporadic case of cystinuria, respiratory chain and growth hormone deficiencies.

Authors:  Marco Zaffanello; Renzo Beghini; Giorgio Zamboni; Vassilios Fanos
Journal:  Pediatr Nephrol       Date:  2003-05-15       Impact factor: 3.714

Review 3.  Twinning and mitotic crossing-over: some possibilities and their implications.

Authors:  G B Côté; J Gyftodimou
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

Review 4.  Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23.

Authors:  F S Dahdaleh; J C Carr; D Calva; J R Howe
Journal:  Clin Genet       Date:  2011-09-06       Impact factor: 4.438

Review 5.  Infantile hypertrophic pyloric stenosis--genetics and syndromes.

Authors:  Babette Peeters; Marc A Benninga; Raoul C M Hennekam
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2012-07-10       Impact factor: 46.802

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

Authors:  C Desmaze; J F Deleuze; A M Dutrillaux; G Thomas; M Hadchouel; A Aurias
Journal:  J Med Genet       Date:  1992-04       Impact factor: 6.318

7.  Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14.

Authors:  Björn Menten; Karen Buysse; Farah Zahir; Jan Hellemans; Sara J Hamilton; Teresa Costa; Carrie Fagerstrom; George Anadiotis; Daniel Kingsbury; Barbara C McGillivray; Marco A Marra; Jan M Friedman; Frank Speleman; Geert Mortier
Journal:  J Med Genet       Date:  2007-01-12       Impact factor: 6.318

8.  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

9.  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

Review 10.  A gene map of congenital malformations.

Authors:  A O Wilkie; J S Amberger; V A McKusick
Journal:  J Med Genet       Date:  1994-07       Impact factor: 6.318

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