Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation (Q34569108)

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19 January 2020

title

Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation (English)

1 reference

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19 January 2020

0 references

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hypogonadotropic hypogonadism

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3

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19 January 2020

John C. Achermann

7

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19 January 2020

author name string

C Frapsauce

1

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19 January 2020

C Ravel

2

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19 January 2020

M Sibony

4

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19 January 2020

J Mandelbaum

5

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19 January 2020

B Donadille

6

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19 January 2020

J-P Siffroi

8

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19 January 2020

S Christin-Maitre

9

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19 January 2020

language of work or name

English

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publication date

11 January 2011

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19 January 2020

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19 January 2020

volume

26

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19 January 2020

page(s)

724-728

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19 January 2020

issue

3

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Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience

19 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3037794

Nuclear receptors Sf1 and Dax1 function cooperatively to mediate somatic cell differentiation during testis development

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3037794

Dax1 is required for testis determination

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3037794

Phenotypic spectrum of mutations in DAX-1 and SF-1

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3037794

Blockage of the rete testis and efferent ductules by ectopic Sertoli and Leydig cells causes infertility in Dax1-deficient male mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3037794

Pentoxifylline initiates motility in spontaneously immotile epididymal and testicular spermatozoa and allows normal fertilization, pregnancy, and birth after intracytoplasmic sperm injection

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3037794

A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3037794

Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3037794

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3037794

Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation.

7 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEQ372

Combined hypothalamic-pituitary-gonadal defect in a hypogonadic man with a novel mutation in the DAX-1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEQ372

Stimulation of spermatogenesis with recombinant human follicle-stimulating hormone (follitropin alfa; GONAL-f): long-term treatment in azoospermic men with hypogonadotropic hypogonadism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEQ372

An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMREP%2FDEQ372

Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3037794

Stimulation of spermatogenesis by gonadotropins in men with hypogonadotropic hypogonadism

27 October 2018

1 reference

12 December 2020

Efficacy and safety of highly purified urinary follicle-stimulating hormone with human chorionic gonadotropin for treating men with isolated hypogonadotropic hypogonadism. European Metrodin HP Study Group

1 reference

12 December 2020

Pulsatile GnRH or human chorionic gonadotropin/human menopausal gonadotropin as effective treatment for men with hypogonadotropic hypogonadism: a review of 42 cases

1 reference

12 December 2020

DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients

1 reference

12 December 2020

Induction of spermatogenesis and fertility during gonadotropin treatment of gonadotropin-deficient infertile men: predictors of fertility outcome

1 reference

12 December 2020

X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females

1 reference

12 December 2020

Identifiers

DOI

10.1093/HUMREP/DEQ372

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21227944%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21227944%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

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