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Literature DB >> 1479609

The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes.

R Hughes-Benzie, J Allanson, A Hunter, T Cole.

Abstract

Entities: Disease

Mesh：

Year: 1992 PMID： 1479609 PMCID： PMC1016224 DOI： 10.1136/jmg.29.12.928-b

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

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6 in total

1. Monozygotic twinning and Wiedemann-Beckwith syndrome.

Authors: J Clayton-Smith; A P Read; D Donnai
Journal: Am J Med Genet Date: 1992-02-15

2. 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

3. 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

4. The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity.

Authors: N Niikawa; S Ishikiriyama; S Takahashi; A Inagawa; H Tonoki; Y Ohta; N Hase; T Kamei; T Kajii
Journal: Am J Med Genet Date: 1986-05

5. Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5.

Authors: A Koufos; P Grundy; K Morgan; K A Aleck; T Hadro; B C Lampkin; A Kalbakji; W K Cavenee
Journal: Am J Hum Genet Date: 1989-05 Impact factor: 11.025

6. Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21.

Authors: R M Hughes-Benzie; A G Hunter; J E Allanson; A E Mackenzie
Journal: Am J Med Genet Date: 1992 Apr 15-May 1

6 in total

1. Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome.

Authors: M W Partington; K Fagan; V Soubjaki; G Turner
Journal: J Med Genet Date: 1997-09 Impact factor: 6.318

2. 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

The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes.

1. Monozygotic twinning and Wiedemann-Beckwith syndrome.

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

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

4. The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity.

5. Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5.

6. Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21.

1. Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome.

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

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

Review 4. What's new in metabolic and genetic hypoglycaemias: diagnosis and management.

5. Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.

6. Molecular genetic basis of Wilms' tumour?