(Q33593899)

28 July 2017

Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome (English)

1 reference

28 July 2017

Viljoen D

1

1 reference

PubMed ID

1583639

28 July 2017

Ramesar R

series ordinal

2

1 reference

PubMed ID

1583639

28 July 2017

language of work or name

English

0 references

publication date

1 April 1992

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

29

1 reference

28 July 2017

221-225

1 reference

28 July 2017

4

1 reference

FAMILIAL MALFORMATION COMPLEX WITH UMBILICAL HERNIA AND MACROGLOSSIA--A "NEW SYNDROME"?

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015916

Monozygotic twins discordant for Wiedemann-Beckwith syndrome and the implications for genetic counselling.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015916

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015916

Familial Wiedeman-Beckwith syndrome: prenatal echography diagnosis and histologic confirmation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015916

Further studies of the hypoglycemia in children with the exomphalos--macroglossia--gigantism syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015916

Exomphalos with macroglossia: a study of eleven cases.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015916

The Wiedemann-Beckwith syndrome: genetic considerations and a diagnostic sign.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015916

Dominant inheritance of Wiedemann-Beckwith syndrome: further evidence for transmission of "unstable premutation" through carrier women

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015916

Prenatal diagnosis in autosomal dominant Beckwith-Wiedemann syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015916

Studies of malformation syndromes of man XXIX: the Wiedemann-Beckwith syndrome. Clinical, genetic and pathogenetic studies of 12 cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015916

Familial occurrence of the Wiedemann-Beckwith syndrome and persistent fontanel

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015916

Letter: Wiedemann-Beckwith syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015916

Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015916

Wiedemann and Beckwith syndrome: a new familial case

30 October 2018

1 reference

12 December 2020

Beckwith-Wiedemann syndrome in a mother and her son

1 reference

12 December 2020

Familial macroglossia-omphalocele syndrome

1 reference

12 December 2020

Wiedemann-Beckwith syndrome

1 reference

12 December 2020

1 reference

12 December 2020

Letter: Autosomal-dominant sex-dependent transmission of the Wiedemann-Beckwith syndrome

1 reference

12 December 2020

[Exomphalos-macroglossia-gigantism syndrome (Wiedemann-Beckwith syndrome) in three siblings]

1 reference

12 December 2020

Syndrome of excessive growth with macroglossia and omphalocele (Widedeman-Beckwith)

1 reference

12 December 2020

Omphalocele in siblings; report of two cases with surgical recovery

1 reference

12 December 2020

Genetic imprinting in clinical genetics

1 reference

12 December 2020

Duplication of HRAS1, INS, and IGF2 is not a common event in Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Constitutional interstitial deletion of 11p11 and pericentric inversion of chromosome 9 in a patient with Wiedemann-Beckwith syndrome and hepatoblastoma

1 reference

12 December 2020

Prenatal diagnosis of the Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Deletion of chromosome 11(p11p13) in a patient with Beckwith-Wiedemann syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Trisomy 11p15 and Beckwith-Wiedemann syndrome. Report of two new cases

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.29.4.221

1 reference

28 July 2017

1 reference

28 July 2017

1 reference

PubMed ID

1583639