Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy (Q34266481)

1 August 2017

title

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy (English)

1 reference

Fascioscapulohumeral Muscular Dystrophy

1 August 2017

main subject

1 reference

22

Woodring Wright

1 reference

1 August 2017

23

Mayana Zatz

1 reference

1 August 2017

Giulia Ricci

3

0 references

Rossella Tupler

Rossella Tupler

24

0 references

Carmelo Rodolico

Carmelo Rodolico

15

0 references

Enzo Ricci

Enzo Ricci

14

0 references

Lucio Santoro

Lucio Santoro

17

0 references

Gabriele Siciliano

Gabriele Siciliano

18

0 references

Corrado Angelini

Corrado Angelini

8

0 references

Angela Berardinelli

Angela Berardinelli

7

0 references

Maurizio Moggio

12

Maurizio Moggio

1 reference

1 August 2017

Isabella Scionti

1

1 reference

1 August 2017

Francesca Greco

2

1 reference

1 August 2017

Monica Govi

4

1 reference

1 August 2017

Patricia Arashiro

5

1 reference

1 August 2017

Liliana Vercelli

6

1 reference

1 August 2017

Giovanni Antonini

9

1 reference

1 August 2017

Michelangelo Cao

10

1 reference

1 August 2017

Antonio Di Muzio

11

1 reference

1 August 2017

Lucia Morandi

13

1 reference

1 August 2017

Lucia Ruggiero

16

1 reference

1 August 2017

Giuliano Tomelleri

19

1 reference

1 August 2017

Carlo Pietro Trevisan

20

1 reference

1 August 2017

Giuliana Galluzzi

21

1 reference

1 August 2017

language of work or name

English

0 references

publication date

1 April 2012

1 reference

American Journal of Human Genetics

1 August 2017

published in

1 reference

1 August 2017

volume

90

1 reference

1 August 2017

issue

4

1 reference

1 August 2017

page(s)

628-635

1 reference

Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322229

The multidimensional nature of epigenetic information and its role in disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322229

Clinical features of facioscapulohumeral muscular dystrophy 2.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322229

A unifying genetic model for facioscapulohumeral muscular dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322229

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322229

The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322229

Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322229

Chromosome 4q;10q translocations; comparison with different ethnic populations and FSHD patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322229

Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322229

Mechanisms of development of multiple endocrine neoplasia type 2 and Hirschsprung's disease by ret mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322229

Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322229

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322229

Physical Mapping Evidence for a Duplicated Region on Chromosome 10qter Showing High Homology with the Facioscapulohumeral Muscular Dystrophy Locus on Chromosome 4qter

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322229

Genetic counselling in facioscapulohumeral muscular dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322229

Linkage analyses of five chromosome 4 markers localizes the facioscapulohumeral muscular dystrophy (FSHD) gene to distal 4q35

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322229

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322229

Asymptomatic elevation of serum creatine kinase leading to the diagnosis of 4q35 facioscapulohumeral muscular dystrophy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322229

Becker's muscular dystrophy aggravating facioscapulohumeral muscular dystrophy--double trouble as an explanation for an atypical phenotype.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322229

Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye?

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322229

Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322229

Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322229

Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322229

Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322229

Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD)

28 October 2018

1 reference

12 December 2020

Diagnostic criteria for facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

X-linked and FSH dystrophies in one family

1 reference

12 December 2020

Monozygotic twins with facioscapulohumeral dystrophy (FSHD): implications for genotype/phenotype correlation. FSH-DY Group

1 reference

12 December 2020

Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1

1 reference

12 December 2020

Inheritance of a 38-kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy

1 reference

12 December 2020

Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity

1 reference

12 December 2020

Facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles

1 reference

12 December 2020

Atypical Phenotypes in Patients With Facioscapulohumeral Muscular Dystrophy 4q35 Deletion

1 reference

12 December 2020

An unusual family with Leber's hereditary optic neuropathy and facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Novel mitochondrial tRNALeu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype

1 reference

12 December 2020

Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Facioscapulohumeral muscular dystrophy presenting with hypertrophic cardiomyopathy: a case study

1 reference

12 December 2020

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample.

1 reference

12 December 2020

Charcot-Marie-tooth disease

1 reference

12 December 2020

171st ENMC International Workshop: Standards of care and management of facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

1 reference

12 December 2020

Camptocormia phenotype of FSHD: a clinical and MRI study on six patients

1 reference

12 December 2020

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling

1 reference

12 December 2020

10.1016/J.AJHG.2012.02.019

Identifiers

DOI

1 reference

1 August 2017

1 reference

1 August 2017

1 reference