(Q33683060)

English

Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

facioscapulohumeral muscular dystrophy

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7

object named as

Wijmenga C

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

author name string

Bakker E

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Van der Wielen MJ

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Voorhoeve E

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Ippel PF

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Padberg GW

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Frants RR

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

0 references

publication date

1 January 1996

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

33

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

29-35

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051808

28 July 2018

FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051808

28 July 2018

Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051808

28 July 2018

Genomic sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051808

28 July 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051808

28 July 2018

DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051808

28 July 2018

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051808

28 July 2018

Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertainment bias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051808

28 July 2018

Isolation and mapping of a polymorphic DNA sequence pH30 on chromosome 4[HGM provisional no. D4S139]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051808

28 July 2018

Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051808

28 July 2018

Location of facioscapulohumeral muscular dystrophy gene on chromosome 4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051808

28 July 2018

Isolation and characterization of a hypervariable region [D4S163] on chromosome 4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051808

28 July 2018

Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051808

28 July 2018

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051808

28 July 2018

Transmission of de-novo mutation associated with facioscapulohumeral muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8825045

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Job perspectives in facioscapulohumeral muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8825045

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy familes (FSHD) with 4q markers

1 reference

https://pubmed.ncbi.nlm.nih.gov/8825045

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements

1 reference

https://pubmed.ncbi.nlm.nih.gov/8825045

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.33.1.29

1 reference

https://api.fatcat.wiki/v0/release/nmff6rusbff4todhnt4p6fpina

30 July 2022

based on heuristic

mapped directly with Wikidata item

release_nmff6rusbff4todhnt4p6fpina

1 reference

https://api.fatcat.wiki/v0/release/nmff6rusbff4todhnt4p6fpina

30 July 2022

based on heuristic

mapped directly with Wikidata item

PMC publication ID

1 reference

https://api.fatcat.wiki/v0/release/nmff6rusbff4todhnt4p6fpina

30 July 2022

based on heuristic

mapped directly with Wikidata item

PubMed publication ID

1 reference

https://api.fatcat.wiki/v0/release/nmff6rusbff4todhnt4p6fpina

30 July 2022

based on heuristic

mapped directly with Wikidata item

ResearchGate publication ID

0 references

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