Literature DB >> 6886911

Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome.

K Patterson, K E Toomey, R S Chandra.   

Abstract

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Year:  1983        PMID: 6886911     DOI: 10.1016/s0022-3476(83)80422-3

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


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  14 in total

Review 1.  Hirschsprung disease, associated syndromes, and genetics: a review.

Authors:  J Amiel; S Lyonnet
Journal:  J Med Genet       Date:  2001-11       Impact factor: 6.318

2.  A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus.

Authors:  A Bottani; Y G Xie; F Binkert; A Schinzel
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

Review 3.  The Smith-Lemli-Opitz syndrome.

Authors:  R I Kelley; R C Hennekam
Journal:  J Med Genet       Date:  2000-05       Impact factor: 6.318

4.  Behaviour disorder in monosomy 10qter.

Authors:  L Mehta; D P Duckett; I D Young
Journal:  J Med Genet       Date:  1987-03       Impact factor: 6.318

5.  Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.

Authors:  C Mueller; S Patel; M Irons; K Antshel; G Salen; G S Tint; C Bay
Journal:  Am J Med Genet A       Date:  2003-11-15       Impact factor: 2.802

6.  Smith-Lemli-Opitz syndrome type II: report of a case with additional radiographic findings.

Authors:  T E Herman; M J Siegel; B C Lee; S B Dowton
Journal:  Pediatr Radiol       Date:  1993

Review 7.  Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2012-09-23       Impact factor: 1.827

Review 8.  The contribution of associated congenital anomalies in understanding Hirschsprung's disease.

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2006-03-04       Impact factor: 1.827

9.  The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs.

Authors:  D Donnai; I D Young; W G Owen; S A Clark; P F Miller; W F Knox
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

Review 10.  Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome.

Authors:  M L Merrer; M L Briard; S Girard; N Mulliez; C Moraine; M C Imbert
Journal:  J Med Genet       Date:  1988-02       Impact factor: 6.318

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