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A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility

article

An in-house assay is superior to Sepsityper for direct matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry identification of yeast species in blood cultures

artículo científico publicado en 2015

Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice

artículo científico publicado en 2019

Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice

artículo científico publicado en 2019

Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice

scientific article published on 09 September 2019

Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

scientific article published on 11 March 2020

CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report

scientific article published on 01 October 2019

Creation of knock out and knock in mice by CRISPR/Cas9 to validate candidate genes for human male infertility, interest, difficulties and feasibility

artículo científico publicado en 2018

Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP

scientific journal article

Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility

scientific article published on 02 May 2019

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.

artículo científico publicado en 2018

PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice.

artículo científico publicado en 2018

SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes

artículo científico publicado en 2017

The genetic architecture of morphological abnormalities of the sperm tail

artículo científico publicado en 2020

Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations

artículo científico publicado en 2019

Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella

scientific article published on 01 October 2018

Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.

artículo científico publicado en 2016

Lista de obras de

A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility

An in-house assay is superior to Sepsityper for direct matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry identification of yeast species in blood cultures

Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice

Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice

Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice

Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report

Creation of knock out and knock in mice by CRISPR/Cas9 to validate candidate genes for human male infertility, interest, difficulties and feasibility

Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP

Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.

PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice.

SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes

The genetic architecture of morphological abnormalities of the sperm tail

Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations

Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella

Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.