(Q24536160)

1

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G Giorgio

2

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S A Feather

3

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A Bulfone

4

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V Wright

5

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M Ghiani

6

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A Selicorni

7

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L Gammaro

8

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F Scolari

9

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A S Woolf

10

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O Sylvie

11

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L Bernard

12

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S Malcolm

13

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R Winter

14

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A Ballabio

American Journal of Human Genetics

15

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language of work or name

English

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publication date

March 2001

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published in

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volume

68

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issue

3

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page(s)

569-76

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cites work

PKD1 interacts with PKD2 through a probable coiled-coil domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274470

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274470

STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274470

Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274470

Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274470

Evidence of evolutionary up-regulation of the single active X chromosome in mammals based on Clc4 expression levels in Mus spretus and Mus musculus

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274470

Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274470

The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274470

Oral-facial-digital syndrome type I: an unusual cause of hereditary cystic kidney disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274470

Oral-facial-digital syndromes, 1992.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274470

X-linked dominant inherited diseases with lethality in hemizygous males

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274470

Identification and isolation of transcribed human X chromosome DNA sequences

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274470

Neuropathology of oral-facial-digital syndromes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274470

Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274470

Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274470

Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274470

Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274470

Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274470

Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal to DXS85.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274470

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274470

Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274470

[Hereditary abnormality of the buccal mucosa: abnormal bands and frenula.]

29 November 2018

1 reference

12 December 2020

Sporadic orofaciodigital syndrome type I presenting as end-stage renal disease

1 reference

12 December 2020

Orodigitofacial dysostosis--a new syndrome. A study of 22 cases

1 reference

12 December 2020

X-linked polydactyly (Xpl), a new mutation in the mouse

1 reference

12 December 2020

Identifiers

DOI

10.1086/318802

1 reference

1 reference

1 reference

PubMed publication ID

11179005

1 reference