A Homozygous Deletion of the DPY19l2 Gene is a Cause of Globozoospermia in Men from the Republic of Macedonia (Q41814450)

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1 March 2020

case report

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title

A Homozygous Deletion of the DPY19l2 Gene is a Cause of Globozoospermia in Men from the Republic of Macedonia (English)

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1 March 2020

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Dijana Plaseska-Karanfilska

1 March 2020

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1 March 2020

S Madjunkova

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1 March 2020

I Maleva

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1 March 2020

V Sotiroska

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1 March 2020

Z Petanovski

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1 March 2020

publication date

1 June 2013

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Balkan Journal of Medical Genetics

1 March 2020

published in

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volume

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issue

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1 March 2020

page(s)

73-76

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Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.

1 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835300

Molecular cytogenetic and genetic aspects of globozoospermia: a review

6 June 2018

1 reference

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A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835300

DPY19L2 deletion as a major cause of globozoospermia

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835300

A newly discovered mutation in PICK1 in a human with globozoospermia

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835300

Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia

6 June 2018

1 reference

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Enhancements and modifications of primer design program Primer3.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835300

Globozoospermia revisited

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835300

Identification of polymorphisms in the Hrb, GOPC, and Csnk2a2 genes in two men with globozoospermia.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835300

Analysis of the oocyte activating capacity and chromosomal complement of round-headed human spermatozoa by their injection into mouse oocytes

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835300

DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835300

Assisted oocyte activation overcomes fertilization failure in globozoospermic patients regardless of the DPY19L2 status

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835300

Clinical pregnancies and livebirths achieved by intracytoplasmic injection of round headed acrosomeless spermatozoa with and without oocyte activation in familial globozoospermia: case report.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835300

Evaluation and treatment of familial globozoospermia in five brothers

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3835300

Successful pregnancy in globozoospermia with severe oligoasthenospermia after ICSI

18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24265589

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Characterization of aneuploidy rates, protamine levels, ultrastructure, and functional ability of round-headed sperm from two siblings and implications for intracytoplasmic sperm injection

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24265589

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Biochemical and genetic investigation of round-headed spermatozoa in infertile men including two brothers and their father

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24265589

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.2478/BJMG-2013-0021

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24265589%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

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1 March 2020

PubMed publication ID

24265589

1 reference

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