Literature DB >> 9412792

Further delineation of the critical region for noonan syndrome on the long arm of chromosome 12.

A F Brady1, C R Jamieson, I van der Burgt, A Crosby, M van Reen, H Kremer, E Mariman, M A Patton, S Jeffery.   

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Year:  1997        PMID： 9412792

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  3 in total

1.  Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene.

Authors:  L Lee; J Dowhanick-Morrissette; A Katz; L Jukofsky; I D Krantz
Journal:  Hum Genet       Date:  2000-12       Impact factor: 4.132

2.  PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Authors:  Marco Tartaglia; Kamini Kalidas; Adam Shaw; Xiaoling Song; Dan L Musat; Ineke van der Burgt; Han G Brunner; Débora R Bertola; Andrew Crosby; Andra Ion; Raju S Kucherlapati; Steve Jeffery; Michael A Patton; Bruce D Gelb
Journal:  Am J Hum Genet       Date:  2002-05-01       Impact factor: 11.025

Review 3.  What's new in the neuro-cardio-facial-cutaneous syndromes?

Authors:  Ellen Denayer; Eric Legius
Journal:  Eur J Pediatr       Date:  2007-07-05       Impact factor: 3.183
  3 in total

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