(Q35194788)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213832%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

Genotype-phenotype relationships in fragile X syndrome: a family study (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213832%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference

1 reference

6

G R Sutherland

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213832%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

author name string

D Z Loesch

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213832%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

R Huggins

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213832%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

D A Hay

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213832%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

A K Gedeon

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213832%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

J C Mulley

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213832%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

language of work or name

English

0 references

publication date

1 November 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213832%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

27 October 2019

published in

1 reference

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27 October 2019

volume

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213832%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

page(s)

1064-1073

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213832%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213832%20AND%20SRC:MED&resulttype=core&format=json

Between-generation differences in ascertainment and penetrance: relevance to genetic hypotheses in fragile X.

27 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

Cognitive profiles and the spectrum of clinical manifestations in heterozygous fra (X) females.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

Individual variation and specific cognitive deficits in the fra(X) syndrome.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

Phenotypic variation in male-transmitted fragile X: genetic inferences.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

Dermatoglyphic findings in fragile X syndrome: a causal hypothesis points to X-Y interchange

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

Do some patients with fragile X syndrome have precocious puberty?

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

Construct validity of the PPVT with neuropsychological, intellectual, and achievement measures.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

Anthropometry in Martin-Bell syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

Neuropsychological dimensions of the fragile X syndrome: support for a non-dominant hemisphere dysfunction hypothesis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

Fragile X genotype characterized by an unstable region of DNA.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

Neuropsychological, psychiatric, and physical manifestations in 149 members from 18 fragile X families.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

Absence of expression of the FMR-1 gene in fragile X syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

Neuroanatomy in fragile X females: the posterior fossa

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

Experience with direct molecular diagnosis of fragile X

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

Fragile-X syndrome: unique genetics of the heritable unstable element

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

Fixed and random effects in the variation of the finger ridge count: a study of fragile-X families

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

Fragile X syndrome without CCG amplification has an FMR1 deletion

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

DNA methylation represses FMR-1 transcription in fragile X syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

Extensions to pedigree analysis. III. Variance components by the scoring method

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682311

Application of the anthropometric discriminant functions in estimation of carrier probabilities in Martin-Bell syndrome

27 September 2018

1 reference

12 December 2020

Effect of fragile X on physical and intellectual traits estimated by pedigree analysis

1 reference

12 December 2020

Extensions to multivariate normal models for pedigree analysis

1 reference

12 December 2020

Problems in ascertainment of transmitting males in Martin-Bell syndrome

1 reference

12 December 2020

Programs for pedigree analysis: Mendel, Fisher, and dGene

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213832%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference