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List of works by Jean-Michel Dupont

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

scientific article published on 27 April 2016

Analysis of megakaryocyte growth and development factor (thrombopoietin) effects on blast cell and megakaryocyte growth in myelodysplasia.

scientific article

Atypical presentations of 22q11.2 deletion syndrome: explaining the genetic defects and genome architecture

scientific article published on 22 February 2012

Case report: Meiotic segregation in spermatozoa of a 46,X,t(Y;10)(q11.2;p15.2) fertile translocation carrier.

scientific article published in April 2009

Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.

scientific article

Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study.

scientific article

Diagnostic genetic screening for assisted reproductive technologies patients with macrozoospermia.

scientific article published on 10 February 2017

Early and severe amyloidosis in a patient with concurrent familial Mediterranean fever and pseudoxanthoma elasticum.

scientific article

Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient.

scientific article published in September 2002

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

scientific article published on 02 February 2012

Fluorescence in situ hybridization on methylcellulose cultured hematopoietic stem cells from myelodysplastic syndromes

scientific article published on 01 February 1998

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

scientific article

Heteromorphism 18ph+ : with or without reproductive consequences?

scientific article

In vitro proliferation and differentiation of erythroid progenitors from patients with myelodysplastic syndromes: evidence for Fas-dependent apoptosis.

scientific article published in March 2002

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

scientific article published on 5 November 2014

Inherited interstitial 16q21 deletion of 5.8 Mb without apparent phenotypic effect in three generations of a family: an array-CGH study

scientific article published on 09 September 2011

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

scientific article

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

scientific article published on 10 March 2003

Maternal serum screening in cases of mosaic and translocation Down syndrome.

scientific article published in August 2008

Methylation of specific CpG sites in the P2 promoter of parathyroid hormone-related protein determines the invasive potential of breast cancer cell lines

scientific article published on 01 August 2011

Mosaic isochromosome 20q and normal outcome: a new case ascertained by fluorescence in situ hybridization and a review of the literature

scientific article published on September 1997

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

scientific article published in August 2014

Non-random, individual-specific methylation profiles are present at the sixth CTCF binding site in the human H19/IGF2 imprinting control region

scientific article published in 2007

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

scientific article published on 01 April 2008

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

scientific article published on 01 November 2002

Rapid prenatal diagnosis of Down syndrome using quantitative fluorescence in situ hybridization on interphase nuclei.

scientific article published on February 2003

Sonographic Measurement of the Fetal Iliac Angle Cannot Be Used Alone as a Marker for Trisomy 21

scientific article published on 01 January 2000

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

article

Unusual isochromosome 5p marker chromosome

scientific article published on 25 November 2014

[Analysis of prenatal follow-up strategies for trisomy 21 affected pregnancies in France]

scientific article published on 01 March 2017

[Genetic basis of Prader-Willi and Angelman syndromes: implications for the biologic diagnosis]

scientific article published on 01 April 1998

[Genetic testing in the context of the revision of the French law on bioethics]

scientific article published on 08 February 2010

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