Literature DB >> 20683991

Transient QT interval prolongation in an infant with Simpson-Golabi-Behmel syndrome.

Emily Gertsch1, Salman Kirmani, Michael J Ackerman, Dusica Babovic-Vuksanovic.   

Abstract

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Mesh：

Year:  2010        PMID： 20683991      PMCID： PMC3332551          DOI： 10.1002/ajmg.a.33561

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  11 in total

1.  Simpson-Golabi-Behmel syndrome: disproportionate fetal overgrowth and elevated maternal serum alpha-fetoprotein.

Authors:  R M Hughes-Benzie; J L Tolmie; M McNay; A Patrick
Journal:  Prenat Diagn       Date:  1994-04       Impact factor: 3.050

2.  A new X-linked dysplasia gigantism syndrome: follow up in the first family and report on a second Austrian family.

Authors:  A Behmel; E Plöchl; W Rosenkranz
Journal:  Am J Med Genet       Date:  1988 May-Jun

Review 3.  Cardiac anomalies in the Simpson-Golabi-Behmel syndrome.

Authors:  A E Lin; G Neri; R Hughes-Benzie; R Weksberg
Journal:  Am J Med Genet       Date:  1999-04-23

4.  Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.

Authors:  R M Hughes-Benzie; G Pilia; J Y Xuan; A G Hunter; E Chen; M Golabi; J A Hurst; J Kobori; K Marymee; R A Pagon; H H Punnett; S Schelley; J L Tolmie; M M Wohlferd; T Grossman; D Schlessinger; A E MacKenzie
Journal:  Am J Med Genet       Date:  1996-12-11

5.  A new X-linked multiple congenital anomalies/mental retardation syndrome.

Authors:  M Golabi; M Ito; B D Hall
Journal:  Am J Med Genet       Date:  1984-01

6.  Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.

Authors:  Igor Splawski; Katherine W Timothy; Leah M Sharpe; Niels Decher; Pradeep Kumar; Raffaella Bloise; Carlo Napolitano; Peter J Schwartz; Robert M Joseph; Karen Condouris; Helen Tager-Flusberg; Silvia G Priori; Michael C Sanguinetti; Mark T Keating
Journal:  Cell       Date:  2004-10-01       Impact factor: 41.582

7.  Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome.

Authors:  G Neri; R Marini; M Cappa; P Borrelli; J M Opitz
Journal:  Am J Med Genet       Date:  1988 May-Jun

8.  Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.

Authors:  G Pilia; R M Hughes-Benzie; A MacKenzie; P Baybayan; E Y Chen; R Huber; G Neri; A Cao; A Forabosco; D Schlessinger
Journal:  Nat Genet       Date:  1996-03       Impact factor: 38.330

9.  Long QT syndrome associated with syndactyly identified in females.

Authors:  M L Marks; D L Trippel; M T Keating
Journal:  Am J Cardiol       Date:  1995-10-01       Impact factor: 2.778

10.  Increased nuchal translucency and other ultrasound findings in a case of simpson-golabi-behmel syndrome.

Authors:  Chumei C Li; Sarah D McDonald
Journal:  Fetal Diagn Ther       Date:  2008-04-09       Impact factor: 2.587
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  3 in total

Review 1.  Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

Authors:  Mary Ella Pierpont; Martina Brueckner; Wendy K Chung; Vidu Garg; Ronald V Lacro; Amy L McGuire; Seema Mital; James R Priest; William T Pu; Amy Roberts; Stephanie M Ware; Bruce D Gelb; Mark W Russell
Journal:  Circulation       Date:  2018-11-20       Impact factor: 29.690

2.  First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray.

Authors:  Heidi Kristine Støve; Naja Becher; Vibike Gjørup; Mette Ramsing; Ida Vogel; Else Marie Vestergaard
Journal:  Clin Case Rep       Date:  2017-03-17

3.  Whole exome sequencing aids the diagnosis of Simpson-Golabi-Behmel syndrome in two male fetuses.

Authors:  Jingjing Xiang; Qin Zhang; Xiaoyan Song; Yinghua Liu; Haibo Li; Hong Li; Ting Wang
Journal:  J Int Med Res       Date:  2019-07-15       Impact factor: 1.671
  3 in total

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