(Q36404667)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16497693%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16497693%20AND%20SRC:MED&resulttype=core&format=json

premature ovarian failure

17 January 2020

main subject

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16497693%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Elena Rossi

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16497693%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Orsetta Zuffardi

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16497693%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

author name string

Silvia Bione

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16497693%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Cinzia Sala

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16497693%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Mara Goegan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16497693%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Mattia Gentile

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16497693%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Giuliana Gregato

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16497693%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Tiziano Pramparo

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16497693%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Daniela Toniolo

10

1 reference

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17 January 2020

language of work or name

English

0 references

publication date

23 February 2006

1 reference

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17 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16497693%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16497693%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16497693%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

page(s)

1477-1483

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16497693%20AND%20SRC:MED&resulttype=core&format=json

Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

17 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEI495

Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEI495

A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEI495

Cloning and characterization of the human choroideremia gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEI495

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEI495

Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEI495

Ovarian failure related to eukaryotic initiation factor 2B mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEI495

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEI495

Premature ovarian failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEI495

Long-range control of gene expression: emerging mechanisms and disruption in disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEI495

A high-resolution recombination map of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEI495

Premature ovarian failure and the FMR1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEI495

Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEI495

Order of six loci at 2q24-q31 and orientation of the HOXD locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEI495

Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEI495

Genes and translocations involved in POF.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEI495

Position-effect variegation and the genetic dissection of chromatin regulation in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEI495

Central role of Drosophila SU(VAR)3-9 in histone H3-K9 methylation and heterochromatic gene silencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEI495

Large-scale analysis of the human and mouse transcriptomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEI495

Position effect variegation in Drosophila is associated with an altered chromatin structure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEI495

Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEI495

Turner syndrome and haploinsufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEI495