(Q41029780)

25 September 2017

1 reference

title

Campomelic dysplasia with XY sex reversal: diverse phenotypes resulting from mutations in a single gene (English)

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25 September 2017

1 reference

Schafer AJ

1

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25 September 2017

Foster JW

2

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25 September 2017

Kwok C

3

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25 September 2017

Weller PA

4

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25 September 2017

Guioli S

5

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25 September 2017

Goodfellow PN

6

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25 September 2017

language of work or name

English

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publication date

1 June 1996

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Annals of the New York Academy of Sciences

25 September 2017

published in

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25 September 2017

volume

785

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25 September 2017

page(s)

137-149

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Increasing frequency of a syndrome of multiple osseous defects?

25 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

Heterogeneity in the campomelic syndromes. Long-and short-bone varieties

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

Campomelic dysplasia. Further elucidation of a distinct entity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

A clinical and genetic study of campomelic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

Campomelic dysplasia with sex reversal: morphological and cytogenetic studies of a case.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

A method for constructing radiation hybrid maps of whole genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

A high-resolution whole genome radiation hybrid map of human chromosome 17q22-q25.3 across the genes for GH and TK.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

SOX3 is an X-linked gene related to SRY

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

A conserved family of genes related to the testis determining gene, SRY

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

Seven new members of the Sox gene family expressed during mouse development

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

Transcriptional regulation in mammalian cells by sequence-specific DNA binding proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

Congenital bowing of the long bones in two sisters

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

Autosomal recessive inheritance in camptomelic dwarfism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

Campomelic dysplasia: evidence of autosomal dominant inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

The molecular basis of genetic dominance

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

DNA-binding properties of the product of the testis-determining gene and a related protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

The biochemical role of SRY in sex determination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

Mutational analysis of SRY in XY females

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

Nuclear localization of the testis determining gene product SRY.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

Human haploinsufficiency — one for sorrow, two for joy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56252.X

10.1111/J.1749-6632.1996.TB56252.X

21 January 2018

Identifiers

DOI

1 reference

25 September 2017

1 reference