Literature DB >> 8953644

De novo interstitial proximal deletion of 14q and prenatal diagnosis of holoprosencephaly.

H Bruyere, B Favre, S Douvier, A Nivelon-Chevalier, F Mugneret.   

Abstract

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Year:  1996        PMID： 8953644     DOI： 10.1002/(SICI)1097-0223(199611)16:11<1059::AID-PD993>3.0.CO;2-Z

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


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  4 in total

Review 1.  Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly.

Authors:  C P Chen; C C Lee; L F Chen; C Y Chuang; S W Jan; B F Chen
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

2.  De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia.

Authors:  C P Chen; S R Chern; C C Lee; W L Chen; M H Chen; K M Chang
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

3.  Unbalanced X; autosome translocation.

Authors:  Neerja Gupta; Himanshu Goel; Shubha R Phadke
Journal:  Indian J Pediatr       Date:  2006-09       Impact factor: 1.967

4.  Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children.

Authors:  Farah Zahir; Helen V Firth; Agnes Baross; Allen D Delaney; Patrice Eydoux; William T Gibson; Sylvie Langlois; Howard Martin; Lionel Willatt; Marco A Marra; Jan M Friedman
Journal:  J Med Genet       Date:  2007-06-01       Impact factor: 6.318
  4 in total

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