Penelope Jordan

123 Boulevard De Port Royal
Paris, 75014, France

Last Updated: 09/26/2026

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Found 12 publications

From Dominant Assumptions to Recessive Trait: Rethinking BMP15 in Ovarian Dysfunction.

From Dominant Assumptions to Recessive Trait: Rethinking BMP15 in Ovarian Dysfunction.

Journal: Reproductive sciences (Thousand Oaks, Calif.)

Published: May 08, 2024

Revisiting GDF9 variants in primary ovarian insufficiency: A shift from dominant to recessive pathogenicity?

Revisiting GDF9 variants in primary ovarian insufficiency: A shift from dominant to recessive pathogenicity?

Journal: Gene

Published: May 02, 2024

Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities.

Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities.

Journal: Clinical genetics

Published: April 12, 2024

Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.

Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.

Journal: Clinical genetics

Published: February 14, 2024

Usefulness of early morphological ultrasound in association with cell-free DNA testing in case of atypical serum markers in first trimester of pregnancy: A retrospective study over 5 years.

Usefulness of early morphological ultrasound in association with cell-free DNA testing in case of atypical serum markers in first trimester of pregnancy: A retrospective study over 5 years.

Journal: Journal of gynecology obstetrics and human reproduction

Published: August 18, 2023

NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.

NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.

Journal: Journal of assisted reproduction and genetics

Published: August 03, 2023

Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.

Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.

Journal: American journal of medical genetics. Part A

Published: July 28, 2023

Prenatal diagnosis of isolated bilateral clubfoot: Is amniocentesis indicated?

Prenatal diagnosis of isolated bilateral clubfoot: Is amniocentesis indicated?

Journal: Acta obstetricia et gynecologica Scandinavica

Published: May 22, 2023

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Journal: Human mutation

Published: October 18, 2021

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.

Journal: Kidney international

Published: June 26, 2020

A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome.

A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome.

Journal: The Journal of allergy and clinical immunology

Published: October 19, 2019

Evaluation of the new Elecsys SCC assay: comparison with the Kryptor SCC assay.

Evaluation of the new Elecsys SCC assay: comparison with the Kryptor SCC assay.

Journal: Clinical chemistry and laboratory medicine

Published: May 02, 2017

Showing 1-12 of 12

Last Updated: 09/26/2026