Familial partial 17,20-desmolase and 17alpha-hydroxylase deficiency presenting as infertility (Q34184649)

31 July 2017

Familial partial 17,20-desmolase and 17alpha-hydroxylase deficiency presenting as infertility (English)

1 reference

31 July 2017

David Levran

1

1 reference

31 July 2017

Izhar Ben-Shlomo

2

1 reference

31 July 2017

Clara Pariente

3

1 reference

31 July 2017

Jehoshua Dor

4

1 reference

31 July 2017

Shlomo Mashiach

5

1 reference

31 July 2017

Ariel Weissman

6

1 reference

31 July 2017

language of work or name

1 reference

1 January 2003

1 reference

Journal of Assisted Reproduction and Genetics

31 July 2017

1 reference

31 July 2017

20

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31 July 2017

1

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31 July 2017

21-28

1 reference

https://scigraph.springernature.com/pub.10.1023/a:1021206704958

31 July 2017

0 references

cites work

The molecular basis of isolated 17,20 lyase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3455798

Identification of a novel splicing mutation and 1-bp deletion in the 17alpha-hydroxylase gene of Japanese patients with 17alpha-hydroxylase deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3455798

Prospective evaluation of endometrial thickness as a predictor of pituitary down-regulation after gonadotropin-releasing hormone analogue administration in an in vitro fertilization program.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3455798

The genetic and functional basis of isolated 17,20-lyase deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3455798

Disorders of steroid 17 alpha-hydroxylase deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3455798

Male pseudohermaphroditism due to 17α-hydroxylase deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3455798

17-hydroxylation deficiency in man

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3455798

Characterization of complementary deoxyribonucleic acid for human adrenocortical 17 alpha-hydroxylase: a probe for analysis of 17 alpha-hydroxylase deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3455798

Dynamic testing in reproductive endocrinology.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3455798

Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17 alpha) results in partial combined 17 alpha-hydroxylase/17,20-lyase deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3455798

Pregnancy potential of human oocytes--the effect of cryopreservation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3455798

Incomplete virilization and subclinical mineralocorticoid excess in a boy with partial 17,20-desmolase/17 alpha-hydroxylase deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3455798

In vitro fertilization as a diagnostic and therapeutic tool in a patient with partial 17,20-desmolase deficiency.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3455798

17 alpha-hydroxylation deficiency.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3455798

Genetic analysis of the cytochrome P-450c17alpha (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17alpha-hydroxylase deficiency.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3455798

A male patient presenting with major clinical symptoms of glucocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17alpha-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene mutations.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3455798

Screening for adrenocortical insufficiency with cosyntropin (synthetic ACTH)

28 October 2018

1 reference

12 December 2020

A genetic male patient with 17 alpha-hydroxylase deficiency

1 reference

12 December 2020

Testicular in vitro conversion of progesterone to testosterone and androstenedione in 17 alpha-hydroxylase deficiency

1 reference

12 December 2020

Arrest of follicular development in a patient with 17 alpha-hydroxylase deficiency: folliculogenesis in association with a lack of estrogen synthesis in the ovaries

1 reference

12 December 2020

In vitro fertilization and primary embryonic cleavage are possible in 17 alpha-hydroxylase deficiency despite extremely low intrafollicular 17 beta-estradiol

1 reference

12 December 2020

Expression of messenger ribonucleic acid species encoding steroidogenic enzymes in human follicles and corpora lutea throughout the menstrual cycle

1 reference

12 December 2020

Probing structural and functional domains of human P450c17

1 reference

12 December 2020

Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a 7-basepair duplication in the N-terminal region of the cytochrome P45017 alpha (CYP17) gene

1 reference

12 December 2020

Secondary biosynthetic defects in women with late-onset congenital adrenal hyperplasia

1 reference

12 December 2020

Steroid secretion by granulosa cells isolated from a woman with 17 alpha-hydroxylase deficiency

1 reference

12 December 2020

A 5'-splice site mutation in the cytochrome P450 steroid 17alpha-hydroxylase gene in 17alpha-hydroxylase deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1023/A:1021206704958

1 reference

Dimensions Publication ID

31 July 2017

0 references

1 reference

31 July 2017

1 reference