A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome (Q33676035)

28 July 2017

A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome (English)

1 reference

28 July 2017

Webb T

1

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28 July 2017

Clarke D

2

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28 July 2017

Hardy CA

3

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28 July 2017

Kilpatrick MW

4

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28 July 2017

Corbett J

5

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28 July 2017

Dahlitz M

6

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28 July 2017

language of work or name

English

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publication date

1 March 1995

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Journal of Medical Genetics

28 July 2017

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28 July 2017

32

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28 July 2017

3

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28 July 2017

181-185

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A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050313

FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050313

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050313

Deletions of chromosome 15 as a cause of the Prader-Willi 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=1050313

Preventing mental retardation associated with gross obesity in the Prader-Willi 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=1050313

Parental origin of chromosome 15 deletion in Prader-Willi 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=1050313

Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi 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=1050313

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi 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=1050313

Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050313

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050313

Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050313

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050313

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050313

Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050313

A male with a de novo translocation involving loss of 15q11q13 material and Prader-Willi syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050313

Behavioral and emotional problems in youngsters with Prader-Willi syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050313

Exclusion of the GABAA-receptor beta 3 subunit gene as the Angelman's syndrome gene

30 October 2018

1 reference

12 December 2020

Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene

1 reference

12 December 2020

Neuropsychological capacity of Prader-Willi children: general and specific aspects of impairment

1 reference

12 December 2020

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.3.181

1 reference

28 July 2017

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28 July 2017

1 reference