Literature DB >> 14119520

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

D W SMITH, L LEMLI, J M OPITZ.   

Abstract

Keywords:  ABNORMALITIES; CHILD; FACIAL EXPRESSION; FOOT; GENETICS, HUMAN; GENITALIA, MALE; GROWTH; HAND DEFORMITIES; INFANT; MENTAL RETARDATION; MICROCEPHALY; PYLORIC STENOSIS

Mesh：

Year:  1964        PMID： 14119520     DOI： 10.1016/s0022-3476(64)80264-x

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


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  143 in total

1.  Characterization of the biochemical abnormality in the Smith-Lemli-Opitz syndrome.

Authors:  A K Batta; G Salen
Journal:  Indian J Pediatr       Date:  1996 Mar-Apr       Impact factor: 1.967

2.  Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families.

Authors:  L Kozák; H Francová; E Hrabincová; D Procházková; V Jüttnerová; V Bzdúch; P Simek
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

Review 3.  Malformation syndromes caused by disorders of cholesterol synthesis.

Authors:  Forbes D Porter; Gail E Herman
Journal:  J Lipid Res       Date:  2010-10-07       Impact factor: 5.922

4.  Diagnosis of Smith-Lemli-Opitz syndrome from stored filter paper blood specimens.

Authors:  L Starck; A Lövgren
Journal:  Arch Dis Child       Date:  2000-06       Impact factor: 3.791

5.  Blocking cholesterol synthesis impairs acquisition of the classically conditioned eyeblink response.

Authors:  W T O'Brien; G Xu; G S Tint; G Salen; R J Servatius
Journal:  Integr Physiol Behav Sci       Date:  2000 Apr-Jun

6.  A CASE OF THE SMITH-LEMLI-OPITZ SYNDROME OF MULTIPLE CONGENITAL ANOMALIES IN ASSOCIATION WITH DYSPLASIA EPIPHYSIALIS PUNCTATA.

Authors:  R GIBSON
Journal:  Can Med Assoc J       Date:  1965-03-13       Impact factor: 8.262

7.  2011 William Allan Award introduction: John M. Opitz.

Authors:  Maximilian Muenke
Journal:  Am J Hum Genet       Date:  2012-03-09       Impact factor: 11.025

Review 8.  The ins and outs of cholesterol in the vertebrate retina.

Authors:  Steven J Fliesler; Lionel Bretillon
Journal:  J Lipid Res       Date:  2010-09-22       Impact factor: 5.922

9.  Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic.

Authors:  I Blahakova; E Makaturova; L Kotrbova; M Soukupova; J Lastuvkova; L Kozak
Journal:  J Inherit Metab Dis       Date:  2007-11-12       Impact factor: 4.982

10.  Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS].

Authors:  Martina Witsch-Baumgartner; Hilary Sawyer; Dorothea Haas
Journal:  Eur J Hum Genet       Date:  2013-01-16       Impact factor: 4.246
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