Aziza Lebbar

Paris, 75014, France

Last Updated: 09/26/2026

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Found 9 publications

A Rare Chromosome Rearrangement Leading to de la Chapelle Syndrome with a Mosaic 45,X Cell Line: (46,X,psu dic(X;Y)(p22.13;q11.221)/45,X/45,psu dic(X;Y)(p22.13;q11.221).

A Rare Chromosome Rearrangement Leading to de la Chapelle Syndrome with a Mosaic 45,X Cell Line: (46,X,psu dic(X;Y)(p22.13;q11.221)/45,X/45,psu dic(X;Y)(p22.13;q11.221).

Journal: Genes

Published: November 10, 2022

Optical genome mapping enables constitutional chromosomal aberration detection.

Optical genome mapping enables constitutional chromosomal aberration detection.

Journal: American journal of human genetics

Published: October 01, 2020

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

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.

Journal: Journal of medical genetics

Published: March 26, 2018

A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.

A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.

Journal: American journal of medical genetics. Part A

Published: August 24, 2015

Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum.

Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum.

Journal: American journal of clinical pathology

Published: July 13, 2014

Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.

Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.

Journal: American journal of medical genetics. Part A

Published: April 22, 2014

Inverted duplication with deletion: first interstitial case suggesting a novel undescribed mechanism of formation.

Inverted duplication with deletion: first interstitial case suggesting a novel undescribed mechanism of formation.

Journal: American journal of medical genetics. Part A

Published: February 24, 2014

Unusual isochromosome 5p marker chromosome.

Unusual isochromosome 5p marker chromosome.

Journal: American journal of medical genetics. Part A

Published: September 18, 2013

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Last Updated: 09/26/2026