Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping (Q24540040)

6 July 2017

title

Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping (English)

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6 July 2017

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muscle-eye-brain disease

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1 reference

Cormand B

1

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ORCID Public Data File 2021

Albert de la Chapelle

7

object named as

de la Chapelle A

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6 July 2017

Avela K

2

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6 July 2017

Pihko H

3

1 reference

6 July 2017

Santavuori P

4

1 reference

6 July 2017

Talim B

5

1 reference

6 July 2017

Topaloglu H

6

1 reference

6 July 2017

Lehesjoki AE

8

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6 July 2017

language of work or name

English

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publication date

1 January 1999

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American Journal of Human Genetics

6 July 2017

published in

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6 July 2017

volume

64

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6 July 2017

issue

1

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6 July 2017

page(s)

126-135

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An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

6 July 2017

cites work

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Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

24 March 2017

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Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis

24 March 2017

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24 March 2017

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Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

24 March 2017

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24 March 2017

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24 March 2017

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24 March 2017

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Reassignment of MYCL1 to human chromosome 1p34.3 by fluorescence in situ hybridization

24 March 2017

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24 March 2017

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Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33

24 March 2017

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Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

24 March 2017

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24 March 2017

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Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

24 March 2017

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A metric map of humans: 23,500 loci in 850 bands

7 April 2017

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Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

27 September 2017

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A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci

27 September 2017

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Diagnostic criteria for Walker-Warburg syndrome

27 September 2017

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Relationship between neuronal migration and cell-substratum adhesion: laminin and merosin promote olfactory neuronal migration but are anti-adhesive

27 September 2017

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27 September 2017

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Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities

30 May 2018

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Abnormal localization of laminin subunits in muscular dystrophies

30 May 2018

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30 May 2018

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Congenital muscular dystrophy and cerebral CT scan anomalies. Results of a collaborative study of the Société de Neurologie Infantile

30 May 2018

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Muscle-eye-brain disease (MEB)

30 May 2018

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Muscle-eye-brain disease and Walker-Warburg syndrome

30 May 2018

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Merosin promotes cell attachment and neurite outgrowth and is a component of the neurite-promoting factor of RN22 schwannoma cells

30 May 2018

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Ophthalmological findings in a new syndrome with muscle, eye and brain involvement

30 May 2018

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Laminins of the adult mammalian CNS; laminin-α2 (merosin M-) chain immunoreactivity is associated with neuronal processes

30 May 2018

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Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study

29 November 2018

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Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic

29 November 2018

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29 November 2018

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Congenital muscular dystrophy, brain malformation and ocular problems (muscle, eye and brain disease) in two German families

29 November 2018

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Congenital muscular dystrophy with eye and brain malformations in six Dutch patients

29 November 2018

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50th ENMC International Workshop: congenital muscular dystrophy. 28 February 1997 to 2 March 1997, Naarden, The Netherlands

29 November 2018

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12 December 2020

Muscle-eye-brain disease

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12 December 2020

Cerebro-ocular dysplasia and muscular dystrophy: report of two cases

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12 December 2020

Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations

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12 December 2020

Congenital muscular dystrophy with eye and brain involvement. The Turkish experience in two cases

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12 December 2020

Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus

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12 December 2020

MRI of the brain in muscle-eye-brain (MEB) disease

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12 December 2020

A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC)

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12 December 2020

Muscle-eye-brain disease: a neuropathological study

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12 December 2020

Response to Santavuori et al. regarding Walker-Warburg syndrome and muscle-eye-brain disease

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Crossref

https://api.crossref.org/works/10.1086%2F302206

7 January 2021

inferred from DOI database lookup

Genome maps 7. The human transcript map. Wall chart

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F302206

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/302206

1 reference

6 July 2017

1 reference

6 July 2017

1 reference