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Syndromes with lissencephaly
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
8730288
retrieved
28 July 2017
review article
1 reference
stated in
Europe PubMed Central
title
Syndromes with lissencephaly
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
8730288
retrieved
28 July 2017
main subject
lissencephaly
0 references
author name string
Pilz DT
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
8730288
retrieved
28 July 2017
Quarrell OW
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
8730288
retrieved
28 July 2017
language of work or name
English
0 references
publication date
1 April 1996
1 reference
stated in
Europe PubMed Central
PubMed ID
8730288
retrieved
28 July 2017
published in
Journal of Medical Genetics
1 reference
stated in
Europe PubMed Central
PubMed ID
8730288
retrieved
28 July 2017
volume
33
1 reference
stated in
Europe PubMed Central
PubMed ID
8730288
retrieved
28 July 2017
issue
4
1 reference
stated in
Europe PubMed Central
PubMed ID
8730288
retrieved
28 July 2017
page(s)
319-323
1 reference
stated in
Europe PubMed Central
PubMed ID
8730288
retrieved
28 July 2017
cites work
LISSENCEPHALY IN 2 SIBLINGS.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
Walker-Warburg syndrome: prenatal ultrasound findings
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
Lissencephaly and other malformations of cortical development: 1995 update
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
Miller-Dieker syndrome: lissencephaly and monosomy 17p.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
The heterogeneity of microphthalmia in the mentally retarded
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
The prenatal diagnosis of the Walker-Warburg syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
Muscle-eye-brain disease (MEB)
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
Diagnostic criteria for Walker-Warburg syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
Muscle-eye-brain disease and Walker-Warburg syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
Prenatal diagnosis of lissencephaly
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
Epidemiology of Lissencephaly Type I
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
Causal heterogeneity in isolated lissencephaly
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
Formation, maturation, and disorders of brain neocortex
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
Hydrocephaly, Congenital Retinal Nonattachment, And Congenital Falciform Fold
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
Lissencephaly
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
28 July 2018
Development of the cortical dysplasia of type II lissencephaly.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
30 October 2018
Prenatal diagnosis of lissencephaly: Miller-Dieker syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050582
retrieved
30 October 2018
Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8730288
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A genetic study of the Fukuyama type congenital muscular dystrophy
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8730288
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
22nd ENMC sponsored workshop on congenital muscular dystrophy held in Baarn, The Netherlands, 14-16 May 1993
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8730288
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8730288
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1136/JMG.33.4.319
1 reference
stated in
Europe PubMed Central
PubMed ID
8730288
retrieved
28 July 2017
PMCID
1050582
1 reference
stated in
Europe PubMed Central
PubMed ID
8730288
retrieved
28 July 2017
PubMed ID
8730288
1 reference
stated in
Europe PubMed Central
PubMed ID
8730288
retrieved
28 July 2017
ResearchGate publication ID
14472747
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