Patrick Lores

Paris, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 18 publications

Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.

Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.

Journal: eLife

Published: November 07, 2023

Identification of IQCH as a calmodulin-associated protein required for sperm motility in humans.

Identification of IQCH as a calmodulin-associated protein required for sperm motility in humans.

Journal: iScience

Published: April 04, 2023

Correction to: A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.

Correction to: A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.

Journal: Human genetics

Published: March 26, 2021

Genetic diagnosis, sperm phenotype and ICSI outcome in case of severe asthenozoospermia with multiple morphological abnormalities of the flagellum.

Genetic diagnosis, sperm phenotype and ICSI outcome in case of severe asthenozoospermia with multiple morphological abnormalities of the flagellum.

Journal: Human reproduction (Oxford, England)

Published: March 09, 2021

A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.

A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.

Journal: Human genetics

Published: January 09, 2021

The sodium/proton exchanger SLC9C1 (sNHE) is essential for human sperm motility and fertility.

The sodium/proton exchanger SLC9C1 (sNHE) is essential for human sperm motility and fertility.

Journal: Clinical genetics

Published: October 29, 2020

Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility.

Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility.

Journal: American journal of human genetics

Published: June 30, 2019

Corrigendum: Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.

Corrigendum: Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.

Journal: Human molecular genetics

Published: December 06, 2018

Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction.

Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction.

Journal: Clinical genetics

Published: July 24, 2018

Slc26a3 deficiency is associated with epididymis dysplasia and impaired sperm fertilization potential in the mouse.

Slc26a3 deficiency is associated with epididymis dysplasia and impaired sperm fertilization potential in the mouse.

Journal: Molecular reproduction and development

Published: May 23, 2018

BAF60A mediates interactions between the microphthalmia-associated transcription factor and the BRG1-containing SWI/SNF complex during melanocyte differentiation.

BAF60A mediates interactions between the microphthalmia-associated transcription factor and the BRG1-containing SWI/SNF complex during melanocyte differentiation.

Journal: Journal of cellular physiology

Published: February 05, 2018

Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.

Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.

Journal: Human molecular genetics

Published: December 21, 2017

Showing 1-12 of 18

Last Updated: 09/26/2026