(Q24561792)

6

0 references

Hans van Bokhoven

8

0 references

James Lespinasse

5

0 references

Vera M. Kalscheuer

9

0 references

Sylvain Briault

13

0 references

Claude Moraine

12

0 references

Frédéric Laumonnier

1

0 references

Jamel Chelly

11

0 references

Ben Hamel

3

object named as

Ben C J Hamel

0 references

author name string

Nathalie Ronce

2

0 references

Paul Thomas

4

0 references

Christine Paringaux

American Journal of Human Genetics

7

0 references

language of work or name

English

0 references

publication date

December 2002

0 references

published in

0 references

volume

71

0 references

page(s)

1450-5

0 references

issue

6

0 references

cites work

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420004

Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital 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=420004

Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420004

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420004

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420004

A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420004

Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420004

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420004

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420004

Monogenic causes of X-linked mental retardation.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420004

27 September 2017

XLMR genes: update 2000.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420004

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420004

Mutation screening in Rett syndrome patients.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420004

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420004

Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420004

Functional domains of the Drosophila Engrailed protein

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420004

Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA)

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420004

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420004

Variable X-linked recessive hypopituitarism with evidence of gonadotropin deficiency in two pre-pubertal 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=420004

Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420004

X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420004

Ectopic Sox3 activity elicits sensory placode formation.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420004

Inherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardation.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420004

Nonspecific X-linked mental retardation II: the frequency in British Columbia.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420004

Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12428212

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Position effect in human genetic disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12428212

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12428212