(Q52175972)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10396356%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

title

An atypical contiguous gene syndrome: molecular studies in a family with X-linked Kallmann's syndrome and X-linked ichthyosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10396356%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

main subject

Contiguous gene syndrome

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10396356%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

author name string

G Maya-Nuñez

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10396356%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

A Ulloa-Aguirre

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10396356%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

J C Zenteno

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10396356%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

S Cuevas-Covarrubias

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10396356%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

D Saavedra-Ontiveros

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10396356%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

S Kofman-Alfaro

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10396356%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

J P Méndez

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10396356%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

publication date

1 February 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10396356%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

published in

Clinical Endocrinology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10396356%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

volume

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10396356%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10396356%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

page(s)

157-162

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10396356%20AND%20SRC:MED&resulttype=core&format=json

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome

9 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.1999.00588.X

Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.1999.00588.X

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.1999.00588.X

X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.1999.00588.X

Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.1999.00588.X

A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.1999.00588.X

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.1999.00588.X

Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.1999.00588.X

Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.1999.00588.X

A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.1999.00588.X

Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.1999.00588.X

The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.1999.00588.X

Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.1999.00588.X

Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.1999.00588.X

Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.1999.00588.X

Hypogonadotrophic hypogonadism with hyposmia, X-linked ichthyosis, and renal malformation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.1999.00588.X

Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.1999.00588.X