Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East (Q24644863)

Mustafa A M Salih

15

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William B. Dobyns

William B Dobyns

16

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Christopher A. Walsh

17

Christopher A Walsh

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Annapurna Poduri

7

Annapurna Poduri

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author name string

M Chiara Manzini

1

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Danielle Gleason

2

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Bernard S Chang

3

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R Sean Hill

4

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Brenda J Barry

5

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Jennifer N Partlow

6

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Sophie Currier

8

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Patricia Galvin-Parton

9

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Lawrence R Shapiro

10

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Karen Schmidt

11

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Jessica G Davis

12

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Mohamed Z Seidahmed

14

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language of work or name

English

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publication date

November 2008

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published in

Human Mutation

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volume

29

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issue

11

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page(s)

E231-41

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cites work

Walker-Warburg syndrome

1 reference

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POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

7 April 2017

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Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2577713

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

7 April 2017

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Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

7 April 2017

1 reference

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Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

7 April 2017

1 reference

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An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

7 April 2017

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Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome

7 April 2017

1 reference

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Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

7 April 2017

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Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations

7 April 2017

1 reference

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Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

7 April 2017

1 reference

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Listening to silence and understanding nonsense: exonic mutations that affect splicing

7 April 2017

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Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

7 April 2017

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Physical and functional association of human protein O-mannosyltransferases 1 and 2.

27 September 2017

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Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

27 September 2017

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Dystroglycan: from biosynthesis to pathogenesis of human disease.

27 September 2017

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Glyc-O-genetics of Walker-Warburg syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2577713

dChipSNP: significance curve and clustering of SNP-array-based loss-of-heterozygosity data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2577713

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2577713

A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2577713

Diagnostic criteria for Walker-Warburg syndrome

27 September 2017

1 reference

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Molecular heterogeneity in fetal forms of type II lissencephaly.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2577713

A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2577713

Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2577713

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2577713

Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2577713

A new mutation of the fukutin gene in a non-Japanese patient.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2577713

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2577713

Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2577713