(Q33596012)

28 July 2017

title

Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5). (English)

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Beckwith-Wiedemann syndrome

28 July 2017

main subject

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Tommerup N

1

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28 July 2017

Brandt CA

2

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28 July 2017

Pedersen S

3

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28 July 2017

Bolund L

4

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28 July 2017

Kamper J

5

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28 July 2017

language of work or name

English

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publication date

1 November 1993

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

30

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28 July 2017

issue

11

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28 July 2017

page(s)

958-961

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Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016608

Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016608

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=1016608

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016608

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=1016608

Genomic imprinting and the 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=1016608

A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016608

Loss of heterozygosity in Wilms' tumors, studied for six putative tumor suppressor regions, is limited to chromosome 11.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016608

Embryological and molecular investigations of parental imprinting on mouse chromosome 7.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016608

Genomic imprinting in mammalian development: a parental tug-of-war

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016608

Parental imprinting of the mouse insulin-like growth factor II gene.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016608

On the parental origin of de novo mutation in man.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016608

Uniparental paternal disomy in a genetic cancer-predisposing 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=1016608

Regional mapping of the parathyroid hormone gene (PTH) by cytogenetic and molecular studies

21 June 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016608

21 June 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016608

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016608

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

30 October 2018

1 reference

12 December 2020

Wiedemann-Beckwith syndrome: autosomal-dominant inheritance in a family

1 reference

12 December 2020

Methyl green is a substitute for distamycin A in the formation of distamycin A/DAPI C-bands

1 reference

12 December 2020

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

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

Bronze baby syndrome, biliary hypoplasia, incomplete Beckwith-Wiedemann syndrome and partial trisomy 11

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

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

1 reference

12 December 2020

An infant with Beckwith-Wiedemann syndrome and chromosomal duplication 11p13----pter.: correlation of symptoms between 11p trisomy and Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Formation of a minichromosome by excision of the proximal region of 17q in a patient with von Recklinghausen neurofibromatosis

1 reference

12 December 2020

Parental origin of de novo chromosome rearrangements

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.30.11.958

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28 July 2017

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28 July 2017

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