(Q24671482)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503439%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

title

The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503439%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

main subject

Juberg-Marsidi syndrome

1 reference

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503439%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

author name string

Saugier-Veber P

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503439%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Abadie V

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503439%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Moncla A

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503439%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Mathieu M

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503439%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Piussan C

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503439%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Turleau C

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503439%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Mattei JF

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503439%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

Munnich A

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503439%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

language of work or name

English

0 references

publication date

1 June 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503439%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

13 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503439%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

volume

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503439%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

issue

6

1 reference

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13 October 2019

page(s)

1040-1045

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503439%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682258

Strategies for multilocus linkage analysis in humans

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682258

Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682258

Easy calculations of lod scores and genetic risks on small computers

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682258

A new form of X-linked mental retardation with growth retardation, deafness, and microgenitalism.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682258

Rud syndrome revisited: ichthyosis, mental retardation, epilepsy and hypogonadism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682258

Five polymorphic microsatellite VNTRs on the human X chromosome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682258

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682258

Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682258

Dinucleotide repeat polymorphisms at the DXS453, DXS454 and DXS458 loci

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682258

A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682258

Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682258

Dinucleotide repeat polymorphism at the DXS441 locus

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682258

Two CA-dinucleotide polymorphisms at the COL4A5 (Alport syndrome) gene in Xq22

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682258

Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682258

A new syndrome with mental retardation, short stature and an Xq duplication.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682258

Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682258

X-linked mental retardation, growth retardation, deafness and microgenitalism. A second familial report.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682258

Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682258

Genetic mapping of four dinucleotide repeat loci, DXS453, DXS458, DXS454, and DXS424, on the X chromosome using multiplex polymerase chain reaction

28 November 2018

1 reference

12 December 2020

X linked mental retardation

1 reference

12 December 2020

Localization of the highly polymorphic microsatellite DXS456 on the genetic linkage map of the human X chromosome

1 reference

12 December 2020

Congenital deafness and hypogonadism: a new X-linked recessive disorder

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8503439%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

1 reference