Jean-pierre P. Siffroi

Paris, France

Last Updated: 09/26/2026

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Found 59 publications

Resolving structural variations missed by short-read sequencing uncovers their pathogenicity.

Resolving structural variations missed by short-read sequencing uncovers their pathogenicity.

Journal: Journal of medical genetics

Published: April 04, 2025

Different Nuclear Architecture in Human Sperm According to Their Morphology.

Different Nuclear Architecture in Human Sperm According to Their Morphology.

Journal: Genes

Published: March 11, 2024

Chromosomal abnormalities in oocyte donor candidates: a French survey of over 8,200 karyotypes.

Chromosomal abnormalities in oocyte donor candidates: a French survey of over 8,200 karyotypes.

Journal: Fertility and sterility

Published: February 26, 2024

Ovarian reserve in patients with FMR1 gene premutation and the role of fertility preservation.

Ovarian reserve in patients with FMR1 gene premutation and the role of fertility preservation.

Journal: Annales d'endocrinologie

Published: December 15, 2023

Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.

Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.

Journal: Journal of medical genetics

Published: October 19, 2023

Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters.

Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters.

Journal: Journal of genetics and genomics = Yi chuan xue bao

Published: January 03, 2023

Chromosomal segregation analysis and HOST-based sperm selection in a complex reciprocal translocation carrier.

Chromosomal segregation analysis and HOST-based sperm selection in a complex reciprocal translocation carrier.

Journal: Journal of assisted reproduction and genetics

Published: September 07, 2022

Prevalence and characteristics of gonadoblastoma in a retrospective multi-center study with follow-up investigations of 70 patients with Turner syndrome and a 45,X/46,XY karyotype.

Prevalence and characteristics of gonadoblastoma in a retrospective multi-center study with follow-up investigations of 70 patients with Turner syndrome and a 45,X/46,XY karyotype.

Journal: European journal of endocrinology

Published: July 08, 2022

Reply of the Authors: Genetics of primary ovarian insufficiency: a careful step-by-step approach based on solid foundations to bring new knowledge.

Reply of the Authors: Genetics of primary ovarian insufficiency: a careful step-by-step approach based on solid foundations to bring new knowledge.

Journal: Fertility and sterility

Published: May 12, 2022

Aortic Tissue Analysis in Turner Syndrome.

Aortic Tissue Analysis in Turner Syndrome.

Journal: Journal of the American College of Cardiology

Published: May 06, 2022

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).

Journal: Orphanet journal of rare diseases

Published: February 28, 2022

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

Journal: Clinical genetics

Published: October 06, 2021

Showing 1-12 of 59

Last Updated: 09/26/2026