(Q36148677)

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Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse

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scholarly article

1 reference

Europe PubMed Central

12 August 2017

Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse (English)

1 reference

Europe PubMed Central

12 August 2017

author name string

Nicholls RD

1

1 reference

Europe PubMed Central

12 August 2017

Gottlieb W

2

1 reference

Europe PubMed Central

12 August 2017

Russell LB

3

1 reference

Europe PubMed Central

12 August 2017

Davda M

4

1 reference

Europe PubMed Central

12 August 2017

Horsthemke B

5

1 reference

Europe PubMed Central

12 August 2017

Rinchik EM

6

1 reference

Europe PubMed Central

12 August 2017

language of work or name

0 references

publication date

1 March 1993

1 reference

Europe PubMed Central

12 August 2017

Proceedings of the National Academy of Sciences of the United States of America

1 reference

Europe PubMed Central

12 August 2017

90

1 reference

Europe PubMed Central

12 August 2017

2050-2054

1 reference

Europe PubMed Central

12 August 2017

5

1 reference

Europe PubMed Central

12 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46018

2 October 2017

Abnormal spermiogenesis in two pink-eyed sterile mutants in the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46018

2 October 2017

Contiguous gene syndromes: a component of recognizable syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46018

2 October 2017

Insulin-like growth factor I receptor primary structure: comparison with insulin receptor suggests structural determinants that define functional specificity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46018

2 October 2017

Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46018

2 October 2017

Rhabdomyosarcoma-associated locus and MYOD1 are syntenic but separate loci on the short arm of human chromosome 11

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46018

2 October 2017

Prader-Willi syndrome: current understanding of cause and diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46018

2 October 2017

GABA: an excitatory transmitter in early postnatal life

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46018

2 October 2017

Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46018

2 October 2017

The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46018

2 October 2017

A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46018

2 October 2017

The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46018

2 October 2017

Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46018

2 October 2017

Monoallelic expression of the human H19 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46018

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46018

2 October 2017

Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46018

2 October 2017

Diagnosis of Angelman syndrome in infants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46018

2 July 2018

Angelman syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46018

2 July 2018

Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46018

2 July 2018

Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=46018

2 July 2018

Interstitial 15q deletion without a classic Prader-Willi phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/8095339

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The syntenic relationship between the critical deletion region for the Prader-Willi/Angelman syndromes and proximal mouse chromosome 7

1 reference

https://pubmed.ncbi.nlm.nih.gov/8095339

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The p locus is closely linked to the mouse homolog of a gene from the Prader-Willi chromosomal region

1 reference

https://pubmed.ncbi.nlm.nih.gov/8095339

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8095339

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/8095339

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/8095339

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions of proximal 15q and non-classical Prader-Willi syndrome phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8095339

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.90.5.2050

1 reference

Europe PubMed Central

12 August 2017

1993PNAS...90.2050N

0 references

1 reference

Europe PubMed Central

12 August 2017

1 reference

Europe PubMed Central

12 August 2017

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