Francine Mugneret

Dijon, France

Last Updated: 09/26/2026

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Found 28 publications

Isolated isochromosomes i(X)(p10) and idic(X)(q13) are associated with myeloid malignancies and dysplastic features.

Isolated isochromosomes i(X)(p10) and idic(X)(q13) are associated with myeloid malignancies and dysplastic features.

Journal: American journal of hematology

Published: May 07, 2019

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Journal: Clinical genetics

Published: August 01, 2016

NUP98 is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis.

NUP98 is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis.

Journal: Leukemia

Published: April 12, 2016

Genetic differences between paediatric and adult Burkitt lymphomas.

Genetic differences between paediatric and adult Burkitt lymphomas.

Journal: British journal of haematology

Published: October 19, 2015

Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.

Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.

Journal: Prenatal diagnosis

Published: September 27, 2015

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

Journal: European journal of human genetics : EJHG

Published: January 29, 2015

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.

Journal: JIMD reports

Published: September 24, 2014

Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases.

Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases.

Journal: Prenatal diagnosis

Published: April 16, 2014

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.

Journal: American journal of medical genetics. Part A

Published: April 01, 2014

14q deletions are associated with trisomy 12, NOTCH1 mutations and unmutated IGHV genes in chronic lymphocytic leukemia and small lymphocytic lymphoma.

14q deletions are associated with trisomy 12, NOTCH1 mutations and unmutated IGHV genes in chronic lymphocytic leukemia and small lymphocytic lymphoma.

Journal: Genes, chromosomes & cancer

Published: December 23, 2013

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.

Journal: PLoS genetics

Published: November 08, 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

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Last Updated: 09/26/2026