(Q37256202)

English

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

scientific article published on 11 September 2013

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1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy (English)

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

facioscapulohumeral muscular dystrophy

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1 reference

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Roberto D'Amico

5

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19 August 2017

object named as

Giulia Ricci

1

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Rossella Tupler

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Rossella Tupler

34

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Angela Berardinelli

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Angela Berardinelli

11

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Lorenzo Maggi

21

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Carmelo Rodolico

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Carmelo Rodolico

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Massimiliano Filosto

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Massimiliano Filosto

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Francesco Sera

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object named as

Enzo Ricci

28

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Lucio Santoro

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Gabriele Siciliano

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Gabriele Siciliano

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Corrado Angelini

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Corrado Angelini

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Maurizio Moggio

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Maurizio Moggio

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19 August 2017

Tiziana Mongini

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Tiziana Mongini

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author name string

Isabella Scionti

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Monica Govi

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Ilaria Frambolli

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Fabiano Mele

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Liliana Vercelli

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Lucia Ruggiero

10

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Giovanni Antonini

13

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Elisabetta Bucci

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Michelangelo Cao

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Jessica Daolio

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Antonio Di Muzio

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Rita Di Leo

18

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Giuliana Galluzzi

19

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Elisabetta Iannaccone

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Valerio Maruotti

22

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Lucia Morandi

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Ana Nikolic

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Ebe Pastorello

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Maura Servida

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Giuliano Tomelleri

33

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19 August 2017

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publication date

11 September 2013

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19 August 2017

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Europe PubMed Central

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19 August 2017

136

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19 August 2017

Pt 11

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19 August 2017

3408-3417

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Europe PubMed Central

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19 August 2017

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808686

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808686

6 September 2017

Atypical onset in a series of 122 cases 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=3808686

6 September 2017

A unifying genetic model for facioscapulohumeral muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808686

6 September 2017

Specific sequence variations within the 4q35 region are 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=3808686

6 September 2017

Derivation and validation of QRISK, a new cardiovascular disease risk score for the United Kingdom: prospective open cohort study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808686

6 September 2017

Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808686

6 September 2017

Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808686

6 September 2017

A note on robust variance estimation for cluster-correlated data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808686

6 September 2017

Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808686

6 September 2017

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=3808686

6 September 2017

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=3808686

6 September 2017

Mutation spectrum and phenotypic manifestation in FSHD Greek patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808686

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808686

3 September 2018

The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808686

3 September 2018

Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808686

3 September 2018

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)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3808686

3 September 2018

Nonparametric Estimation from Incomplete Observations

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT226

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT226

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24030947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24030947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

44th ENMC International Workshop: Facioscapulohumeral Muscular Dystrophy: Molecular Studies 19-21 July 1996, Naarden, The Netherlands

1 reference

https://pubmed.ncbi.nlm.nih.gov/24030947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Facioscapulohumeral muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/24030947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24030947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24030947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic criteria for facioscapulohumeral muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/24030947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetics of facioscapulohumeral muscular dystrophy: new mutations in sporadic cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/24030947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/24030947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/24030947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24030947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/BRAIN/AWT226

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

ResearchGate publication ID

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