Literature DB >> 9152841

Autosomal dominant inheritance of Weaver syndrome.

A Fryer1, C Smith, L Rosenbloom, T Cole.   

Abstract

Most report of Weaver syndrome have been sporadic cases and the genetic basis of the syndrome is uncertain. This report of an affected father and daughter provides evidence for autosomal dominant inheritance.

Entities:  

Mesh：

Year:  1997        PMID： 9152841      PMCID： PMC1050951          DOI： 10.1136/jmg.34.5.418

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  8 in total

1.  Sotos syndrome.

Authors:  T R Cole; H E Hughes
Journal:  J Med Genet       Date:  1990-09       Impact factor: 6.318

2.  Weaver syndrome.

Authors:  T R Cole; N R Dennis; H E Hughes
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

3.  A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly.

Authors:  D D Weaver; C B Graham; I T Thomas; D W Smith
Journal:  J Pediatr       Date:  1974-04       Impact factor: 4.406

4.  Twins and their mildly affected mother with Weaver syndrome.

Authors:  M Dumić; J Vuković; M Cvitkovic; I Medica
Journal:  Clin Genet       Date:  1993-12       Impact factor: 4.438

Review 5.  Beckwith-Wiedemann syndrome.

Authors:  M Elliott; E R Maher
Journal:  J Med Genet       Date:  1994-07       Impact factor: 6.318

6.  The Weaver syndrome: a rare type of primordial overgrowth.

Authors:  F Majewski; M Ranke; H Kemperdick; E Schmidt
Journal:  Eur J Pediatr       Date:  1981-11       Impact factor: 3.183

7.  A Weaver-like syndrome with endocrinological abnormalities in a boy and his mother.

Authors:  C Stoll; P Talon; L Mengus; M P Roth; B Dott
Journal:  Clin Genet       Date:  1985-09       Impact factor: 4.438

8.  Further delineation of Weaver syndrome.

Authors:  H H Ardinger; J W Hanson; M J Harrod; M M Cohen; J A Tibbles; J P Welch; T Young-Wee; A Sommer; R Goldberg; R J Shprintzen
Journal:  J Pediatr       Date:  1986-02       Impact factor: 4.406
  8 in total
  6 in total

1.  Diagnosing Friedreich's ataxia.

Authors:  N W Wood
Journal:  Arch Dis Child       Date:  1998-03       Impact factor: 3.791

2.  Growing interest in overgrowth.

Authors:  T Cole
Journal:  Arch Dis Child       Date:  1998-03       Impact factor: 3.791

3.  Weaver syndrome associated with bilateral congenital hip and unilateral subtalar dislocation.

Authors:  P Mikalef; T Beslikas; I Gigis; I Bisbinas; T Papageorgiou; I Christoforides
Journal:  Hippokratia       Date:  2010-07       Impact factor: 0.471

4.  Mutations in EZH2 cause Weaver syndrome.

Authors:  William T Gibson; Rebecca L Hood; Shing Hei Zhan; Dennis E Bulman; Anthony P Fejes; Richard Moore; Andrew J Mungall; Patrice Eydoux; Riyana Babul-Hirji; Jianghong An; Marco A Marra; David Chitayat; Kym M Boycott; David D Weaver; Steven J M Jones
Journal:  Am J Hum Genet       Date:  2011-12-15       Impact factor: 11.025

5.  Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction.

Authors:  Arnold H Menezes; Timothy W Vogel
Journal:  Childs Nerv Syst       Date:  2008-03-28       Impact factor: 1.475

6.  Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Authors:  Katrina Tatton-Brown; Sandra Hanks; Elise Ruark; Anna Zachariou; Silvana Del Vecchio Duarte; Emma Ramsay; Katie Snape; Anne Murray; Elizabeth R Perdeaux; Sheila Seal; Chey Loveday; Siddharth Banka; Carol Clericuzio; Frances Flinter; Alex Magee; Vivienne McConnell; Michael Patton; Wolfgang Raith; Julia Rankin; Miranda Splitt; Volker Strenger; Clare Taylor; Patricia Wheeler; Karen I Temple; Trevor Cole; Jenny Douglas; Nazneen Rahman
Journal:  Oncotarget       Date:  2011-12
  6 in total

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