(Q33595787)

28 July 2017

Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype (English)

1 reference

28 July 2017

1 reference

de Vries BB

1

1 reference

28 July 2017

Fryns JP

2

1 reference

28 July 2017

Butler MG

3

1 reference

28 July 2017

Canziani F

4

1 reference

28 July 2017

Wesby-van Swaay E

5

1 reference

28 July 2017

van Hemel JO

6

1 reference

28 July 2017

Oostra BA

7

1 reference

28 July 2017

Halley DJ

8

1 reference

28 July 2017

Niermeijer MF

9

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 September 1993

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

30

1 reference

28 July 2017

761-766

1 reference

28 July 2017

9

1 reference

X-linked mental retardation, macro-orchidism, and the Xq27 fragile site

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016534

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016534

21 June 2018

A marker X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016534

Prevalence of the fragile-X syndrome in mentally retarded boys in a Swedish county.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016534

Population incidence and segregation ratios in the Martin-Bell 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=1016534

The nucleotide sequence of chicken smooth muscle myosin light chain two

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016534

Prader-Willi syndrome: current understanding of cause and diagnosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016534

Fragile X genotype characterized by an unstable region of DNA.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016534

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X 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=1016534

Dinucleotide repeat polymorphism of D15S10 in the Prader-Willi chromosome region (PWCR)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016534

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016534

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X 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=1016534

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016534

The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016534

Fragile X mental retardation and the iduronate sulphatase locus: testing Laird's model of fra(X) inheritance

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016534

Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016534

X-Linked mental retardation with macro-orchidism and the fragile site at Xq27 or 28

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016534

Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016534

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016534

A peculiar subphenotype in the fra(X) syndrome: extreme obesity-short stature-stubby hands and feet-diffuse hyperpigmentation. Further evidence of disturbed hypothalamic function in the fra(X) syndrome?

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8411072

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8411072

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.30.9.761

1 reference

28 July 2017

1 reference

28 July 2017

1 reference