(Q39245915)

10 September 2017

title

Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28 (English)

1 reference

17 November 2022

1 reference

17 November 2022

author name string

V. Biancalana

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1757098

17 November 2022

B. Le Marec

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1757098

17 November 2022

S. Odent

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1757098

17 November 2022

J. A. van den Hurk

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1757098

17 November 2022

A. Hanauer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1757098

17 November 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1757098

17 November 2022

publication date

1 December 1991

1 reference

full work available at URL

10 September 2017

http://link.springer.com/content/pdf/10.1007/BF00206078.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00206078/fulltext.html

17 November 2022

1 reference

http://link.springer.com/content/pdf/10.1007/BF00206078

17 November 2022

1 reference

17 November 2022

1 reference

10 September 2017

volume

88

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10 September 2017

issue

2

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10 September 2017

page(s)

228-230

1 reference

Abnormal facies, cleft palate, and generalized dysostosis: A lethal X-linked syndrome

10 September 2017

cites work

1 reference

12 December 2020

A new polymorphic marker very closely linked to DXS52 in the q28 region of the human X chromosome

1 reference

12 December 2020

Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome

1 reference

12 December 2020

Tentative assignment of gene for oto-palato-digital syndrome to distal Xq (Xq26-q28)

1 reference

12 December 2020

Oto-palato-digital type I syndrome in five generations. Relationship to the type II form

1 reference

12 December 2020

A familial syndrome of cranial, facial, oral and limb anomalies

1 reference

12 December 2020

Oto-palato-digital syndrome: comparison of clinical and radiographic manifestations in males and females

1 reference

12 December 2020

The oto-palato-digital syndrome, proposed type II.

1 reference

12 December 2020

Oto-Palato-Digital syndrome in four generations of a large family.

1 reference

12 December 2020

Physical and genetic mapping of polymorphic loci in Xq28 (DXS15, DXS52, and DXS134): analysis of a cosmid clone and a yeast artificial chromosome

1 reference

12 December 2020

Two polymorphisms at the DXS539 locus

1 reference

12 December 2020

Genetic and physical mapping of a novel region close to the fragile X site on the human X chromosome

1 reference

12 December 2020

Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26-q27.

1 reference

12 December 2020

Oto-Palato-Digital syndrome with severe X-ray changes in two half brothers

1 reference

12 December 2020

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00206078

1 reference

release_njkr4vuknne5lnzhsv2hvqxa3e

10 September 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/njkr4vuknne5lnzhsv2hvqxa3e

24 November 2022

mapped directly with Wikidata item

1 reference