Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III (Q34687471)

3 August 2017

title

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

1 reference

https://api.crossref.org/works/10.1007/S00401-010-0748-0

microcephalic osteodysplastic primordial dwarfism type I

17 July 2024

main subject

0 references

microcephaly

0 references

author name string

Gordana Juric-Sekhar

1

1 reference

3 August 2017

Raj P. Kapur

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20857301

17 July 2024

Ian A. Glass

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20857301

17 July 2024

Mitzi L. Murray

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20857301

17 July 2024

Shawn E. Parnell

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20857301

17 July 2024

Robert F. Hevner

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20857301

17 July 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20857301

17 July 2024

publication date

21 September 2010

1 reference

full work available at URL

3 August 2017

https://europepmc.org/articles/pmc3059390?pdf=render

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20857301

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20857301/pdf/?tool=EBI

17 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20857301

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20857301/?tool=EBI

17 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20857301

https://europepmc.org/articles/PMC3059390

17 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20857301

https://europepmc.org/articles/PMC3059390?pdf=render

17 July 2024

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20857301

https://doi.org/10.1007/s00401-010-0748-0

17 July 2024

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20857301

https://link.springer.com/content/pdf/10.1007/s00401-010-0748-0.pdf

17 July 2024

1 reference

https://api.crossref.org/works/10.1007/S00401-010-0748-0

https://link.springer.com/article/10.1007/s00401-010-0748-0/fulltext.html

17 July 2024

1 reference

https://api.crossref.org/works/10.1007/S00401-010-0748-0

http://link.springer.com/content/pdf/10.1007/s00401-010-0748-0

17 July 2024

1 reference

https://api.crossref.org/works/10.1007/S00401-010-0748-0

17 July 2024

published in

Acta Neuropathologica

1 reference

3 August 2017

volume

121

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3 August 2017

issue

4

1 reference

3 August 2017

page(s)

545-554

1 reference

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

3 August 2017

cites work

1 reference

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

7 July 2018

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Neuronal migration disorders: clinical, neuroradiologic and genetics aspects

7 July 2018

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Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

7 July 2018

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

7 July 2018

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

7 July 2018

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7 July 2018

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

7 July 2018

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7 July 2018

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7 July 2018

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Genotypically defined lissencephalies show distinct pathologies

7 July 2018

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

7 July 2018

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Interneurons of the neocortical inhibitory system

7 July 2018

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Origin of GABAergic neurons in the human neocortex

7 July 2018

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

7 July 2018

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

7 July 2018

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

7 July 2018

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

7 July 2018

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

7 July 2018

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

7 July 2018

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Microcephalic, osteodysplastic, primordial dwarfism

7 July 2018

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

7 July 2018

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

7 July 2018

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

7 July 2018

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

7 July 2018

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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

1 reference

3 August 2017

1 reference

3 August 2017

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