Marie-france F. Portnoi

Paris, France

Last Updated: 09/26/2026

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Found 13 publications

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

A 14q distal chromoanagenesis elucidated by whole genome sequencing.

A 14q distal chromoanagenesis elucidated by whole genome sequencing.

Journal: European journal of medical genetics

Published: October 06, 2018

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Journal: Journal of medical genetics

Published: October 02, 2018

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

Journal: Human molecular genetics

Published: October 08, 2017

How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.

How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.

Journal: American journal of medical genetics. Part A

Published: July 08, 2017

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.

Journal: European journal of human genetics : EJHG

Published: April 13, 2015

Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements.

Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements.

Journal: American journal of medical genetics. Part A

Published: May 15, 2014

Discovery of a large deletion of KAL1 in 2 deaf brothers.

Discovery of a large deletion of KAL1 in 2 deaf brothers.

Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

Published: November 16, 2013

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes.

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes.

Journal: Prenatal diagnosis

Published: October 22, 2013

Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers.

Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers.

Journal: Human reproduction (Oxford, England)

Published: May 02, 2013

Prenatal diagnosis of bilateral ectrodactyly and radial agenesis associated with trisomy 10 mosaicism.

Prenatal diagnosis of bilateral ectrodactyly and radial agenesis associated with trisomy 10 mosaicism.

Journal: Case reports in genetics

Published: November 26, 2012

Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling.

Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling.

Journal: European journal of medical genetics

Published: April 05, 2012

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Last Updated: 09/26/2026