(Q34687471)

3 August 2017

Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. (English)

1 reference

microcephalic osteodysplastic primordial dwarfism type I

3 August 2017

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microcephaly

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author name string

Gordana Juric-Sekhar

1

1 reference

3 August 2017

Raj P Kapur

2

1 reference

3 August 2017

Ian A Glass

3

1 reference

3 August 2017

Mitzi L Murray

4

1 reference

3 August 2017

Shawn E Parnell

5

1 reference

3 August 2017

Robert F Hevner

6

1 reference

3 August 2017

21 September 2010

1 reference

3 August 2017

Acta Neuropathologica

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3 August 2017

121

1 reference

3 August 2017

4

1 reference

3 August 2017

545-554

1 reference

https://scigraph.springernature.com/pub.10.1007/s00401-010-0748-0

3 August 2017

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cites work

Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: surgical considerations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Neuronal migration disorders: clinical, neuroradiologic and genetics aspects

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Layer-specific markers as probes for neuron type identity in human neocortex and malformations of cortical development

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

The origin and specification of cortical interneurons

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Towards the classification of subpopulations of layer V pyramidal projection neurons

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Area and layer patterning in the developing cerebral cortex.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Genotypically defined lissencephalies show distinct pathologies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Interneurons of the neocortical inhibitory system

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Origin of GABAergic neurons in the human neocortex

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

A 17-month-old with extreme prenatal-onset growth delay. Microcephalic osteodysplastic primordial dwarfism type II.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Molecular evidence for the early specification of presumptive functional domains in the embryonic primate cerebral cortex.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Microcephalic, osteodysplastic, primordial dwarfism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

The spectrum of lissencephaly: report of ten patients analyzed by magnetic resonance imaging

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Microcephalic osteodysplastic primordial dwarfism type I/III in sibs

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3059390

Distinct origins of neocortical projection neurons and interneurons in vivo

7 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0748-0

Hippocampal abnormalities associated with various congenital malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0748-0

Beyond laminar fate: toward a molecular classification of cortical projection/pyramidal neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0748-0

Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0748-0

Malformations of cortical development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0748-0

Contributions of cortical subventricular zone to the development of the human cerebral cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0748-0

Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20857301

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Microcephalic osteodysplastic primordial dwarfism type II: a child with café au lait lesions, cutis marmorata, and moyamoya disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20857301

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Nosology and classification of genetic skeletal disorders: 2006 revision

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20857301

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00401-010-0748-0

1 reference

3 August 2017

1 reference

3 August 2017

1 reference