Literature DB >> 1227524

A previously unrecognized X-linked syndrome of dysmorphia.

J L Simpson, S Landey, M New, J German.   

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Year:  1975        PMID： 1227524

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  24 in total

1.  Sotos syndrome: a study of the diagnostic criteria and natural history.

Authors:  T R Cole; H E Hughes
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

2.  Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome.

Authors:  L M Brzustowicz; S Farrell; M B Khan; R Weksberg
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

3.  G0/G1 switch gene-2 regulates human adipocyte lipolysis by affecting activity and localization of adipose triglyceride lipase.

Authors:  Martina Schweiger; Margret Paar; Christina Eder; Janina Brandis; Elena Moser; Gregor Gorkiewicz; Susanne Grond; Franz P W Radner; Ines Cerk; Irina Cornaciu; Monika Oberer; Sander Kersten; Rudolf Zechner; Robert Zimmermann; Achim Lass
Journal:  J Lipid Res       Date:  2012-08-13       Impact factor: 5.922

4.  Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes.

Authors:  J Eggenschwiler; T Ludwig; P Fisher; P A Leighton; S M Tilghman; A Efstratiadis
Journal:  Genes Dev       Date:  1997-12-01       Impact factor: 11.361

5.  Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.

Authors:  Arya Mani; Jayaram Radhakrishnan; Anita Farhi; Khary S Carew; Carole A Warnes; Carol Nelson-Williams; Ronald W Day; Barbara Pober; Matthew W State; Richard P Lifton
Journal:  Proc Natl Acad Sci U S A       Date:  2005-01-31       Impact factor: 11.205

6.  A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.

Authors:  V Shashi; M N Berry; S Shoaf; J J Sciote; D Goldstein; T C Hart
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

7.  A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma.

Authors:  P Lapunzina; I Badia; C Galoppo; E De Matteo; P Silberman; A Tello; J Grichener; R Hughes-Benzie
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

8.  Congenital craniofacial dysostosis and cutis gyratum: the Beare-Stevenson syndrome.

Authors:  B Bratanic; M Praprotnik; M Novosel-Sever
Journal:  Eur J Pediatr       Date:  1994-03       Impact factor: 3.183

9.  Clinical and oral findings of a patient with Simpson-Golabi-Behmel syndrome.

Authors:  M Bayram; M Yildirim; F Seymen
Journal:  Eur Arch Paediatr Dent       Date:  2014-09-23

10.  A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome?

Authors:  A Behmel; E Plöchl; W Rosenkranz
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
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