A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3 (Q24540311)

6 July 2017

A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3 (English)

1 reference

autosomal recessive spondylocostal dysostosis

6 July 2017

0 references

author name string

Turnpenny PD

1

1 reference

6 July 2017

Bulman MP

2

1 reference

6 July 2017

Frayling TM

3

1 reference

6 July 2017

Abu-Nasra TK

4

1 reference

6 July 2017

Garrett C

5

1 reference

6 July 2017

Hattersley AT

6

1 reference

6 July 2017

Ellard S

7

1 reference

6 July 2017

language of work or name

English

0 references

publication date

1 July 1999

1 reference

American Journal of Human Genetics

6 July 2017

1 reference

6 July 2017

65

1 reference

6 July 2017

1

1 reference

6 July 2017

175-182

1 reference

Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity?

6 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

Mutations in paralogous Hox genes result in overlapping homeotic transformations of the axial skeleton: evidence for unique and redundant function

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

Trisomy 8: an international study of 70 patients

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

Synteny-defined candidate genes for congenital and idiopathic scoliosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

The undulated mouse and the development of the vertebral column. Is there a human PAX-1 homologue?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

Human PAX gene expression and development of the vertebral column.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

Spondylo-costal dysplasia. A further report--review of 14 cases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

Evidence for autosomal recessive inheritance of costovertebral dysplasia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

The autosomal recessive form of spondylocostal dysostosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

Spondylo-thoracic Dysplasia in Three Sisters

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

Congenital spinal deformity in a three generation family

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

Spondylocostal dysostosis: an example of autosomal dominant transmission in a large family.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

Recessive spondylocostal dysostosis: Two new cases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

The mouse pudgy mutation disrupts Delta homologue Dll3 and initiation of early somite boundaries

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

Hereditary costovertebral dysplasia with malignant cerebral tumour

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

Spondylo-vertebral and spondylo-thoracic dysostosis. Clinical, radiological and genetic study, apropos of 7 observations

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

Spondylocostal dysostosis associated with a 46, XX,+15,dic(6;15)(q25;q11.2) translocation

30 May 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

29 November 2018

https://api.crossref.org/works/10.1086%2F302464

7 January 2021

inferred from DOI database lookup

Spondylocostal dysostosis in South African sisters.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378088

Identical twins with an autosomal recessive form of spondylocostal dysostosis

29 November 2018

1 reference

12 December 2020

The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: a case report

1 reference

12 December 2020

Modulation of non-templated nucleotide addition by Taq DNA polymerase: primer modifications that facilitate genotyping

1 reference

12 December 2020

[Polydysspondylic syndrome due to 14-15 translocation and dyschondrosteosis in the same subject. Familial segregation.]

1 reference

12 December 2020

Costovertebral dysplasia

1 reference

12 December 2020

[Costovertebral dysostosis and congenital heart disease. Four case-reports (author's transl)]

1 reference

12 December 2020

Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling

1 reference

12 December 2020

Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity

1 reference

12 December 2020

Spondylocostal dysostosis: dominant type

1 reference

12 December 2020

Severe spondylocostal dysostosis associated with other congenital anomalies: A clinical/epidemiologic analysis and description of ten cases from the Spanish registry

1 reference

12 December 2020

Identifiers

DOI

10.1086/302464

1 reference

6 July 2017

1 reference

6 July 2017

1 reference