Pénélope Jordan

Genome sequencing improves diagnostic outcomes over panel and exome sequencings in myopathies: findings from the French PFMG2025 initiative

Camille Verebi, Anthony Maino, Corinne Metay, Juliette Nectoux et autres

Abstract Background Myopathies represent a very heterogeneous group of disease with multiple underlying causes, challenging for molecular genetic diagnosis. Hence, the diagnostic yield is very variable within the different myopathy subtypes. Current diagnostic strategies mainly rely on gene-panel or exome sequencing (ES) …

fr (code pays fourni par la source)

Étude cytogénétique conventionnelle et moléculaire de l’insuffisance ovarienne prématurée

Ange Lucien Diatta, Bérénice Herve, Pénélope Jordan, Jean‐Michel Dupont et autres

Sénégal, fr (code pays fourni par la source)

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

Bérénice Herve, Camille Verebi, Marion Bonnier, Pénélope Jordan et autres

fr (code pays fourni par la source)

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

Anaïk Previdi, Pénélope Jordan, Charles Egloff, Aurélie Coussement et autres

15q24.1 microdeletion syndrome is a recently described condition often resulting from non-allelic homologous recombination (NAHR). Typical clinical features include pre and post-natal growth retardation, facial dysmorphism, developmental delay and intellectual disability. Nonspecific urogenital, skeletal, and digit abnormalities may be present, although other …

fr (code pays fourni par la source)

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

Pénélope Jordan, Camille Verebi, Bérénice Herve, Sandrine Pérol et autres

BACKGROUND: Primary ovarian insufficiency (POI) affects around 2-4% of women before the age of 40. Genetic factors play an important role in POI. The GDF9 gene has been identified as a significant genetic contributor of POI. However, the pathogenicity and penetrance of …

fr (code pays fourni par la source)

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

Pénélope Jordan, Camille Verebi, Bérénice Herve, Sandrine Pérol et autres

Pathogenic germline variants in the FOXL2 gene are associated with Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) in humans, an autosomal dominant condition. Two forms of BPES have emerged: (i) type I (BPES-I), characterized by ocular signs and primary ovarian failure (POI), …

fr (code pays fourni par la source)

Author response for "Shifting the landscape: Dominant C‐terminal rare missense FOXL2 variants in non‐syndromic primary ovarian failure etiology"

Pénélope Jordan, Camille Verebi, Bérénice Herve, Sandrine Pérol et autres

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

N Claudel, Olivia Anselem, Charlotte Buron-Fouque, Laïla El Khattabi et autres

fr (code pays fourni par la source)

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

J. Quilichini, Sandrine Pérol, Laurence Cuisset, Sarah Grotto et autres

FMR1 premutation female carriers are at risk of developing premature/primary ovarian insufficiency (POI) with an incomplete penetrance. In this study, we determined the CGG repeat size among 1095 women with diminished ovarian reserve (DOR) / POI and characterized the CGG/AGG substructure in …

fr (code pays fourni par la source)

Prenatal diagnosis of isolated bilateral clubfoot: Is amniocentesis indicated?

Edouard Leyne, Olivia Anselem, Pénélope Jordan, Alexandre Vivanti et autres

INTRODUCTION: The aim of this study is to evaluate the benefit of cytogenetic testing by amniocentesis after an ultrasound diagnosis of isolated bilateral talipes equinovarus. MATERIAL AND METHODS: This multicenter observational retrospective study includes all prenatally diagnosed cases of isolated bilateral talipes …

fr (code pays fourni par la source)

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

Pénélope Jordan, Camille Verebi, Sandrine Pérol, Sarah Grotto et autres

fr (code pays fourni par la source)

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

Pénélope Jordan, Guillaume Dorval, Christelle Arrondel, Vincent Morinière et autres

We report the screening of a large panel of genes in a series of 100 fetuses (98 families) affected with severe renal defects. Causative variants were identified in 22% of cases, greatly improving genetic counseling. The percentage of variants explaining the phenotype …

fr (code pays fourni par la source)