Literature DB >> 7966193

Beckwith-Wiedemann syndrome.

M Elliott1, E R Maher.   

Abstract

Entities:  

Mesh：

Year:  1994        PMID： 7966193      PMCID： PMC1049980          DOI： 10.1136/jmg.31.7.560

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


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  33 in total

1.  [FAMILIAL MALFORMATION COMPLEX WITH UMBILICAL HERNIA AND MACROGLOSSIA--A "NEW SYNDROME"?].

Authors:  H R WIEDEMANN
Journal:  J Genet Hum       Date:  1964-09

Review 2.  Paternal origin of 11p15 duplications in the Beckwith-Wiedemann syndrome. A new case and review of the literature.

Authors:  K W Brown; A Gardner; J C Williams; M G Mott; A McDermott; N J Maitland
Journal:  Cancer Genet Cytogenet       Date:  1992-01

3.  Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting females.

Authors:  C Moutou; C Junien; I Henry; C Bonaïti-Pellié
Journal:  J Med Genet       Date:  1992-04       Impact factor: 6.318

4.  Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome.

Authors:  D Viljoen; R Ramesar
Journal:  J Med Genet       Date:  1992-04       Impact factor: 6.318

5.  Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature.

Authors:  M J Pettenati; J L Haines; R R Higgins; R S Wappner; C G Palmer; D D Weaver
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

6.  Uniparental paternal disomy in a genetic cancer-predisposing syndrome.

Authors:  I Henry; C Bonaiti-Pellié; V Chehensse; C Beldjord; C Schwartz; G Utermann; C Junien
Journal:  Nature       Date:  1991-06-20       Impact factor: 49.962

Review 7.  Wiedemann-Beckwith syndrome.

Authors:  W Engström; S Lindham; P Schofield
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183

8.  Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome.

Authors:  M Waziri; S R Patil; J W Hanson; J A Bartley
Journal:  J Pediatr       Date:  1983-06       Impact factor: 4.406

9.  The birth prevalence of malformation syndromes in Tokyo infants: a survey of 14,430 newborn infants.

Authors:  M Higurashi; K Iijima; Y Sugimoto; N Ishikawa; H Hoshina; N Watanabe; K Yoneyama
Journal:  Am J Med Genet       Date:  1980

10.  An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive live births.

Authors:  P A Baird; E C MacDonald
Journal:  Am J Hum Genet       Date:  1981-05       Impact factor: 11.025
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  40 in total

Review 1.  Mechanisms of genomic imprinting.

Authors:  K Pfeifer
Journal:  Am J Hum Genet       Date:  2000-09-05       Impact factor: 11.025

2.  Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome.

Authors:  Alessandro Mussa; Licia Peruzzi; Nicoletta Chiesa; Agostina De Crescenzo; Silvia Russo; Daniela Melis; Luigi Tarani; Giuseppina Baldassarre; Lidia Larizza; Andrea Riccio; Margherita Silengo; Giovanni Battista Ferrero
Journal:  Pediatr Nephrol       Date:  2011-10-21       Impact factor: 3.714

3.  A new lethal syndrome of exomphalos, short limbs, and macrogonadism.

Authors:  L Faivre; A L Delezoide; F Narcy; F Razavi; R Bouvier; V Cormier-Daire; M L Briard; S Lyonnet; M Vekemans; A Munnich; M Le Merrer
Journal:  J Med Genet       Date:  1999-02       Impact factor: 6.318

Review 4.  Approach to the Diagnosis of Overgrowth Syndromes.

Authors:  Mohnish Suri
Journal:  Indian J Pediatr       Date:  2015-12-18       Impact factor: 1.967

5.  Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome.

Authors:  F R Grati; L Turolla; P D'Ajello; A Ruggeri; M Miozzo; G Bracalente; D Baldo; L Laurino; R Boldorini; E Frate; N Surico; L Larizza; F Maggi; G Simoni
Journal:  J Med Genet       Date:  2007-01-26       Impact factor: 6.318

Review 6.  Genomic imprinting and cancer.

Authors:  J A Joyce; P N Schofield
Journal:  Mol Pathol       Date:  1998-08

7.  Microdissecting the genetic events in nephrogenic rests and Wilms' tumor development.

Authors:  A K Charles; K W Brown; P J Berry
Journal:  Am J Pathol       Date:  1998-09       Impact factor: 4.307

8.  No evidence for uniparental disomy as a common cause of Sotos syndrome.

Authors:  M Smith; P Fullwood; Y Qi; S Palmer; M Upadhyaya; T Cole
Journal:  J Med Genet       Date:  1997-01       Impact factor: 6.318

9.  Autosomal dominant inheritance of Weaver syndrome.

Authors:  A Fryer; C Smith; L Rosenbloom; T Cole
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

10.  Outcome of prenatally diagnosed anterior abdominal wall defects.

Authors:  P A Boyd; A Bhattacharjee; S Gould; N Manning; P Chamberlain
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  1998-05       Impact factor: 5.747
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