Lista de obras - Jean-Michel Dupont - Dominio Público Uruguay

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

artículo científico publicado en 2016

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

artículo científico publicado en 1998

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Diagnostic genetic screening for assisted reproductive technologies patients with macrozoospermia.

artículo científico publicado en 2017

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2002

Heteromorphism 18ph+ : with or without reproductive consequences?

artículo científico publicado en 2001

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

artículo científico publicado en 2002

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

artículo científico publicado en 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.

artículo científico publicado en 2014

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

artículo científico publicado en 2003

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

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

artículo científico publicado en 1997

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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

artículo científico publicado en 2002

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

artículo científico

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 1998

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

artículo científico publicado en 2010

Lista de obras de 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

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

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

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

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

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

Diagnostic genetic screening for assisted reproductive technologies patients with macrozoospermia.

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

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

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

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

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

Heteromorphism 18ph+ : with or without reproductive consequences?

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Unusual isochromosome 5p marker chromosome

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

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

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