(Q24676110)

English

Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11

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scholarly article

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Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11 (English)

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Contiguous gene syndrome

1 reference

based on heuristic

inferred from title

parietal foramina

1 reference

based on heuristic

inferred from title

hereditary multiple exostoses

1 reference

based on heuristic

inferred from title

author name string

O Bartsch

1

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W Wuyts

2

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W Van Hul

3

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J T Hecht

4

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P Meinecke

5

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D Hogue

6

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W Werner

7

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B Zabel

8

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G K Hinkel

9

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C M Powell

10

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L G Shaffer

11

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P J Willems

12

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language of work or name

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publication date

April 1996

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American Journal of Human Genetics

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58

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4

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734-42

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Genetic heterogeneity in families with hereditary multiple exostoses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914683

7 April 2017

Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914683

7 April 2017

Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914683

7 April 2017

A gene for hereditary multiple exostoses maps to chromosome 19p.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914683

28 September 2017

A radiation hybrid map of 506 STS markers spanning human chromosome 11.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914683

28 September 2017

Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914683

28 September 2017

Parietal foramina in the Saethre-Chotzen syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914683

28 September 2017

Hereditary cranium bifidum and symmetric parietal foramina are the same entity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914683

28 September 2017

Normal variants and congenital anomalies in the region of the obelion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914683

28 September 2017

WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914683

30 May 2018

Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914683

30 May 2018

Parietal foramina in Saethre-Chotzen syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914683

30 May 2018

[Lacunar changes in the parietal bones. Observations on 75 members of a family with an increased occurrece of parietal foramia]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914683

30 May 2018

An unusual type of acrocephalosyndactyly with bilateral parietooccipital "encephalocele," micropenis, and severe mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914683

30 May 2018

Human haploinsufficiency — one for sorrow, two for joy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914683

28 November 2018

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914683

28 November 2018

Saethre-Chotzen syndrome: a broad and variable pattern of skeletal malformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914683

28 November 2018

Nonfamilial and nonhereditary craniofacial dysostosis: a variant of Crouzon's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8644736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A concordant craniofacial dysostosis with enlarged parietal foramina in twins

1 reference

https://pubmed.ncbi.nlm.nih.gov/8644736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evolution of persistently enlarged parietal foramina

1 reference

https://pubmed.ncbi.nlm.nih.gov/8644736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary enlarged parietal foramina (foramina parietalia permagna). Prenatal diagnosis, evolution and family study

1 reference

https://pubmed.ncbi.nlm.nih.gov/8644736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial incidence of foramina parietalia permagna

1 reference

https://pubmed.ncbi.nlm.nih.gov/8644736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bone growth in diaphysial aclasis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8644736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial occurrance of foramina parietalia permagna

1 reference

https://pubmed.ncbi.nlm.nih.gov/8644736

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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