A. Lebbar

发表

Next generation cytogenetics: genome-imaging enables comprehensive structural variant detection for 100 constitutional chromosomal aberrations in 85 samples

A. Hoischen, D. Smeets, L. E. El Khattabi, 2020, bioRxiv.

Fetal Loss after Amniocentesis in a Series of 5,780 Procedures

F. Goffinet, G. Grangé, A. Lebbar, 2008, Fetal Diagnosis and Therapy.

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

L. Cuisset, L. E. El Khattabi, D. Le Tessier, 2014, American journal of medical genetics. Part A.

Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U‐type exchange model

J. Dupont, F. Letourneur, K. Maincent, 2009, American journal of medical genetics. Part A.

First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation

L. Cuisset, C. Teinturier, D. Le Tessier, 2007, American journal of medical genetics. Part A.

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

L. E. El Khattabi, J. Dupont, G. Viot, 2016, American journal of medical genetics. Part A.

Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome

C. Yardin, S. Elsea, S. Bourthoumieu, 2012, American journal of medical genetics. Part A.

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

L. Cuisset, L. E. El Khattabi, V. Tsatsaris, 2014, American journal of clinical pathology.

aCGH may be useful in Case of Dominant Disorders Known to be Caused by Gene Mutations: Two Case Reports

C. Yardin, J. Dupont, S. Bourthoumieu, 2014 .

Clonal chromosomal abnormalities identified by interphase fluorescence in situ hybridization on collagen cultured hematopoietic stem cells

D. Bouscary, S. Fichelson, F. Dreyfus, 2000, Leukemia.

45,X/46,XY Mosaicism: Report of 27 Cases

J. Barbet, J. Chaussain, A. Lebbar, 1999, Pediatrics.

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)

F. Vialard, J. Dupont, M. Delcroix, 2022, Genes.

Sperm FISH analysis in two healthy infertile brothers with t(15;18) unbalanced translocation: Implications for genetic counselling and reproductive management.

J. Auger, D. Le Tessier, J. Dupont, 2010, European journal of medical genetics.

Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility

D. Le Tessier, J. Dupont, P. Callier, 2008, American journal of medical genetics. Part A.

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

A. Toutain, A. Verloes, L. Pasquier, 2015, American journal of medical genetics. Part A.

Pregnancy outcome following prenatal diagnosis of an isodicentric X chromosome: first case report

J. Dupont, G. Viot, A. Lebbar, 2002, Prenatal diagnosis.

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

R. Touraine, A. Afenjar, A. Toutain, 2019, Journal of Medical Genetics.

Optical genome mapping enables constitutional chromosomal aberration detection.

Alexander Hoischen, Caroline Schluth-Bolard, Damien Sanlaville, 2021, American journal of human genetics.

Pure familial 6q21q22.1 duplication in two generations.

J. Dupont, A. Lebbar, F. Baverel, 2007, European journal of medical genetics.

Translocation (Y;22) resulting in the loss of SHOX and isolated short stature

M. Hassan, P. Czernichow, P. Eydoux, 2004, American journal of medical genetics. Part A.

First reported case of interstitial 15 q15.3‐q21.3 deletion diagnosed prenatally and characterized with array CGH in a fetus with an isolated short femur

L. Cuisset, D. Le Tessier, V. Tsatsaris, 2012, American journal of medical genetics. Part A.

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

A. Afenjar, N. Le Meur, L. Faivre, 2018, Journal of Medical Genetics.

Heteromorphism 18ph+ : with or without reproductive consequences?

A. Tabet, A. Lebbar, G. Feldmann, 2001, Annales de genetique.

Is Rapid Aneuploidy Screening Used Alone Acceptable in Prenatal Diagnosis? An Evaluation of the Possible Role of Ultrasound Examination

V. Tsatsaris, G. Grangé, A. Lebbar, 2009, Fetal Diagnosis and Therapy.

Unusual isochromosome 5p marker chromosome

C. Yardin, J. Dupont, S. Bourthoumieu, 2015, American journal of medical genetics. Part A.

French multi-centric study of 2000 amniotic fluid interphase FISH analyses from high-risk pregnancies and review of the literature.

B. Delobel, I. Luquet, F. Fellmann, 2002, Annales de genetique.

Optimized criteria for using fluorescence in situ hybridization in the prenatal diagnosis of common aneuploidies

D. Le Tessier, V. Tsatsaris, J. Dupont, 2008, Prenatal diagnosis.

Amniocentesis Performed for Karyotyping after Identified Ultrasonographic Abnormalities: What to Expect?

J. Meynard, V. Tsatsaris, G. Grangé, 2011, Fetal Diagnosis and Therapy.

Optical genome mapping enables constitutional chromosomal aberration detection.

A. Hoischen, D. Smeets, J. Dupont, 2021, American journal of human genetics.

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

A. Toutain, A. Verloes, L. Pasquier, 2015, American journal of medical genetics. Part A.