Cleidocranial dysplasia: clinical and molecular genetics (Q33594812)

28 July 2017

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title

Cleidocranial dysplasia: clinical and molecular genetics (English)

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28 July 2017

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cleidocranial dysplasia

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Mundlos S

1

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28 July 2017

language of work or name

English

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publication date

1 March 1999

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

36

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28 July 2017

issue

3

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28 July 2017

page(s)

177-182

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Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

Heritable diseases of the skeleton. Part II: Molecular insights into skeletal development-matrix components and their homeostasis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

Heritable diseases of the skeleton. Part I: Molecular insights into skeletal development-transcription factors and signaling pathways.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

Trisomy 20pter = to q11 in a malformed boy from a t(13;20)(p11;q11) translocation-carrier mother.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

Cleidocranial dysostosis. A review of 40 new cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

Animal model: skeletal anomalies in mice with cleidocranial dysplasia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

Partial deletion of chromosome 6p: delineation of the syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

t(8;21) breakpoints on chromosome 21 in acute myeloid leukemia are clustered within a limited region of a single gene, AML1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

Dental treatment strategies in cleidocranial dysplasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

Mouse clavicular development: analysis of wild-type and cleidocranial dysplasia mutant mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

Craniofacial abnormalities in 52 school-age and adult patients with cleidocranial dysplasia.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

Somatic development in cleidocranial dysplasia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734317

Osteo-dental dysplasia (cleido-cranial dysostosis); the "Arnold head"

30 October 2018

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12 December 2020

Cleidocranial dysostosis

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12 December 2020

Cleidocranial dysostosis

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12 December 2020

Familial cleidocranial dysostosis

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12 December 2020

[On the clinical aspects of cleidocranial dysostosis]

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12 December 2020

Evidence for an autosomal recessive form of cleidocranial dysostosis

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12 December 2020

Cementum and other root abnormalities of permanent teeth in cleidocranial dysostosis

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12 December 2020

Duplication 11 (q21 to 23 leads to qter) syndrome

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12 December 2020

International nomenclature of constitutional diseases of bone. Revision--May, 1977

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12 December 2020

Partial trisomy of 11 and 22 due to familial translocation t(11;22) (q23;q11), inherited in three generations

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12 December 2020

Syndromes and situations associated with congenital clavicular hypoplasia or agenesis

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12 December 2020

Development of the dentition in cleidocranial dysplasia

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12 December 2020

Intrafamilial variability in cleidocranial dysplasia: a three generation family

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12 December 2020

Craniofacial growth in cleidocranial dysplasia--a roentgencephalometric study

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12 December 2020

Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion

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12 December 2020

Cleidocranial dysplasia in mice

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12 December 2020

Histological observations of teeth and peridental tissues in cleidocranial dysplasia imply increased activity of odontogenic epithelium and abnormal bone remodeling

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12 December 2020

Cleidocranial dysplasia: Part 1--General principles of the orthodontic and surgical treatment modality

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12 December 2020

Cleidocranial dysplasia: Part 2--Treatment protocol for the orthodontic and surgical modality

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12 December 2020

Identifiers

PMC publication ID

1734317

1 reference

28 July 2017

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