Lista de obras - Serge Romana - Dominio Público Uruguay

A CGH study of 27 patients with CHARGE association

artículo científico publicado en 2002

A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test

artículo científico publicado en 2016

A cryptic chromosome 19 abnormality in a patient with Ph-positive acute lymphoblastic leukemia

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.

artículo científico publicado en 2001

A novel translocation, t(9;11)(q33;q23) involving the HRX gene in an acute monocytic leukemia

article

A preliminary study to assess the value of the DNA chips SpectralChip to detect subtle constitutional chromosome imbalances

artículo científico publicado en 2004

A simple method for prenatal diagnosis of trisomy 21 on uncultured amniocytes

artículo científico publicado en 1993

Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report.

artículo científico publicado en 2001

Acute megakaryoblastic leukemia and loss of the RUNX1 gene

article

Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism

artículo científico publicado en 2000

Array-CGH predicts prognosis in plasma cell post-transplantation lymphoproliferative disorders

artículo científico publicado en 2016

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

artículo científico publicado en 2009

Assisting reproduction of infertile men carrying a Robertsonian translocation

article

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.

artículo científico publicado en 2002

Birth of healthy female twins after preimplantation genetic diagnosis of cystic fibrosis combined with gender determination

artículo científico publicado en 2002

CGH analysis in a cohort of 17 chromosomally normal fetuses with an increased nuchal translucency

Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes

artículo científico publicado en 2002

Characterization of sSMC by FISH and molecular techniques

artículo científico publicado en 2011

Chromosomal translocations involving the IGH@ locus in B-cell precursor acute lymphoblastic leukemia: 29 new cases and a review of the literature

artículo científico

Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism

artículo científico publicado en 2008

Chromosome painting in acute monocytic leukemia.

artículo científico

Classical West "syndrome" phenotype with a subtelomeric 4p trisomy

artículo científico publicado en 2004

Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype

artículo científico publicado en 2001

Comparison of comparative genomic hybridization with conventional karyotype and classical fluorescence in situ hybridization for prenatal and postnatal diagnosis of unbalanced chromosome abnormalities

artículo científico publicado en 1998

Complex chromosomal rearrangement and intracytoplasmic sperm injection: a case report

artículo científico publicado en 2007

Congenital contractures, short stature, abnormal face, microcephaly, scoliosis, hip dislocation, and severe psychomotor retardation in two unrelated girls. a new MCA/MR syndrome?

artículo científico publicado en 2002

Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes

artículo científico publicado en 2006

Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?

artículo científico publicado en 2003

Cryptic translocations involving chromosome 20 in polycythemia vera

artículo científico publicado en 2004

Cyclin D3 deregulation by juxtaposition with IGH locus in a t(6;14)(p21;q32)-positive T-cell acute lymphoblastic leukemia

artículo científico publicado en 2009

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

scientific journal article

De novo inverted duplication 9p21pter involving telomeric repeated sequences.

artículo científico publicado en 1999

De novo trisomy 20p of paternal origin

artículo científico publicado en 2007

Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

artículo científico publicado en 2002

Deletion of the short arm of chromosome 12 is a secondary event in acute lymphoblastic leukemia with t(12;21)

scientific article published on 01 January 1996

Diagnosis of chromosomal abnormalities by array CGH in constitutional pathology: the end of the first-line karyotype ⬇️

artículo científico publicado el 17 de febrero de 2012

Diagnostic préimplantatoire avec typage HLA : naissance du premier enfant du double espoir en France

article

Enrichment, immunomorphological, and genetic characterization of fetal cells circulating in maternal blood

artículo científico publicado en 2002

Enteropathy-Associated T-Cell Lymphoma Complicating an Autoimmune Enteropathy

artículo científico publicado en 2012

Extensive molecular mapping of TCRα/δ- and TCRβ-involved chromosomal translocations reveals distinct mechanisms of oncogene activation in T-ALL.

artículo científico publicado en 2012

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome

artículo científico publicado en 2005

First fetal case of the 8q24.3 contiguous genes syndrome

article

First prenatally diagnosed case of 16p11.2p12.1 duplication

article

Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case

artículo científico publicado en 2009

Five years’ experience of preimplantation genetic diagnosis in the Parisian Center: outcome of the first 441 started cycles

artículo científico publicado en 2006

Fluorescence in situ hybridization (FISH) rather than ultrasound for the evaluation of fetuses at risk for 22q11.2 deletion

article published in 2003

Formation of Nup98-containing nuclear bodies in HeLa sublines is linked to genomic rearrangements affecting chromosome 11.

artículo científico publicado en 2015

Functional analysis of the NUP98-CCDC28A fusion protein

artículo científico publicado en 2011

Functional disomy of the Xq28 chromosome region

artículo científico publicado en 2005

Fusion of ZMIZ1 to ABL1 in a B-cell acute lymphoblastic leukaemia with a t(9;10)(q34;q22.3) translocation

scientific article published on 15 November 2007

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

artículo científico publicado en 2015

Gluten-free diet, chromosomal abnormalities, and cancer risk in coeliac disease

artículo científico publicado en 2004

HOX11L2/TLX3 is transcriptionally activated through T-cell regulatory elements downstream of BCL11B as a result of the t(5;14)(q35;q32)

scientific article published on 22 August 2006

High frequency of t(12;21) in childhood B-lineage acute lymphoblastic leukemia.

artículo científico publicado en 1995

Identical abnormality of the short arm of chromosome 18 in two Philadelphia-positive chronic myelocytic leukemia patients with erythroblastic transformation, resulting in duplication of BCR-ABL1 fusion.

artículo científico publicado en 2002

Identification of GSX2 and AF10 as NUP98 partner genes in myeloid malignancies

artículo científico publicado en 2013

Identification of theIRXBGene Cluster as Candidate Genes in Severe Dysgenesis of the Ocular Anterior Segment

article

In situ hybridization to interphase nuclei in acute leukemia

artículo científico publicado en 1993

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

artículo científico publicado en 2014

Indications et résultats du diagnostic pré-implantatoire (DPI)

artículo científico publicado en 2006

Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection

artículo científico publicado en 2014

LRRFIP1, a new FGFR1 partner gene associated with 8p11 myeloproliferative syndrome

artículo científico publicado en 2009

La CGH microarray : principe et applications en pathologie constitutionnelle

article

Loss of p19Arf in a Rag1(-/-) B-cell precursor population initiates acute B-lymphoblastic leukemia

artículo científico publicado en 2011

L’expérience parisienne du diagnostic génétique pré-implantatoire (DPI) : bilan des premières naissances

artículo científico publicado en 2005

MLL insertion with MLL-MLLT3 gene fusion in acute leukemia: case report and review of the literature

artículo científico publicado en 2008

Microchimerism in renal allografts: clinicopathological associations according to the type of chimeric cells.

artículo científico publicado en 2010

Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome

artículo científico publicado en 2003

Molecular Cytogenetics of t(12;21)(p13;q22)

artículo científico publicado en 1996

Molecular analysis of chromosomal breakpoints in three examples of chromosomal translocation involving the TEL gene

scientific article published on 01 November 1999

Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature.

artículo científico publicado en 2002

Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region

artículo científico publicado en 2006

Molecular karyotyping in human constitutional cytogenetics

artículo científico publicado en 2005

Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization.

artículo científico publicado en 2008

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.

artículo científico publicado en 2012

Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion

artículo científico publicado en 2014

NUP214-ABL1 amplification in t(5;14)/HOX11L2-positive ALL present with several forms and may have a prognostic significance.

artículo científico publicado en 2005

NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogénétique Hématologique.

artículo científico publicado en 2006

NUP98-MLL fusion in human acute myeloblastic leukemia.

artículo científico publicado en 2010

NUP98–HMGB3: a novel oncogenic fusion

artículo científico publicado en 2009

NUP98–NSD1 fusion by insertion in acute myeloblastic leukemia

article published in 2008

New insights into genotype-phenotype correlation for GLI3 mutations

artículo científico publicado en 2014

No chromosome arm unturned: in memory of Roland Berger 1934-2012.

artículo científico publicado en 2014

Non-invasive prenatal testing for trisomy 21 based on analysis of cell-free fetal DNA circulating in the maternal plasma

artículo científico publicado en 2015

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation

artículo científico publicado en 2010

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

artículo científico publicado en 2002

PMX2B, a new candidate gene for Hirschsprung's disease

artículo científico publicado en 2003

Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis

artículo científico publicado en 2003

Partial chromosome 21 amplification in a child with acute lymphoblastic leukemia.

artículo científico publicado en 1995

Partial duplication of HRX in acute leukemia with trisomy 11.

artículo científico publicado en 1995

Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties

artículo científico publicado en 2005

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

article

Prenatal diagnosis and characterization of an analphoid marker chromosome 16

artículo científico publicado en 2004

Prenatal diagnosis of mosaicism for 11q terminal deletion

artículo científico publicado en 2007

Pure proximal deletion of chromosome 21 and kyphosis

Reassessment of childhood B-lineage lymphoblastic leukemia karyotypes using spectral analysis

article

Reply to Salviati et al.

artículo científico publicado en 2006

Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene

artículo científico publicado en 2007

Stable and functional lymphoid reconstitution in artemis-deficient mice following lentiviral artemis gene transfer into hematopoietic stem cells.

artículo científico publicado en 2008

Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features

artículo científico publicado en 2000

TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7

article

Techniques nouvelles en cytogénétique

scientific article published on 01 January 1996

The TEL gene products: nuclear phosphoproteins with DNA binding properties

artículo científico publicado en 1997

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

artículo científico publicado en 2000

The t(12;21) of acute lymphoblastic leukemia results in a tel-AML1 gene fusion.

artículo científico publicado en 1995

Transforming potential of the T-cell acute lymphoblastic leukemia-associated homeobox genes HOXA13, TLX1, and TLX3.

artículo científico publicado en 2006

Various types of rearrangements target TLX3 locus in T-cell acute lymphoblastic leukemia

artículo científico publicado en 2004

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.

artículo científico publicado en 2015

[First birth after preimplantation genetic diagnosis performed on thawed embryos]

artículo científico publicado en 2003

[Indications of chromosome and DNA analysis for the diagnosis of genetic diseases]

artículo científico publicado en 1997

[Preimplantation genetic diagnosis experience in Paris: evaluation of first births]

artículo científico publicado en 2002

[Preimplantation genetic diagnosis: update of the Parisian group]

artículo científico publicado en 2002

[Prenatal and preimplantation genetic diagnosis: decision tree, new practices?].

artículo científico publicado en 2005

[Spectral karyotyping (SKY) principle, avantages and limitations]

artículo científico publicado en 2003

[Ten years' experience of preimplantation genetic diagnosis in Paris: remaining obstacles and potential solutions]

artículo científico publicado en 2011

t(12;21): a new recurrent translocation in acute lymphoblastic leukemia.

artículo científico

Lista de obras de Serge Romana

A CGH study of 27 patients with CHARGE association

A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test

A cryptic chromosome 19 abnormality in a patient with Ph-positive acute lymphoblastic leukemia

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.

A novel translocation, t(9;11)(q33;q23) involving the HRX gene in an acute monocytic leukemia

A preliminary study to assess the value of the DNA chips SpectralChip to detect subtle constitutional chromosome imbalances

A simple method for prenatal diagnosis of trisomy 21 on uncultured amniocytes

Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report.

Acute megakaryoblastic leukemia and loss of the RUNX1 gene

Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism

Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism

Array-CGH predicts prognosis in plasma cell post-transplantation lymphoproliferative disorders

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

Assisting reproduction of infertile men carrying a Robertsonian translocation

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.

Birth of healthy female twins after preimplantation genetic diagnosis of cystic fibrosis combined with gender determination

CGH analysis in a cohort of 17 chromosomally normal fetuses with an increased nuchal translucency

Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes

Characterization of sSMC by FISH and molecular techniques

Chromosomal translocations involving the IGH@ locus in B-cell precursor acute lymphoblastic leukemia: 29 new cases and a review of the literature

Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism

Chromosome painting in acute monocytic leukemia.

Classical West "syndrome" phenotype with a subtelomeric 4p trisomy

Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype

Comparison of comparative genomic hybridization with conventional karyotype and classical fluorescence in situ hybridization for prenatal and postnatal diagnosis of unbalanced chromosome abnormalities

Complex chromosomal rearrangement and intracytoplasmic sperm injection: a case report

Congenital contractures, short stature, abnormal face, microcephaly, scoliosis, hip dislocation, and severe psychomotor retardation in two unrelated girls. a new MCA/MR syndrome?

Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes

Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?

Cryptic translocations involving chromosome 20 in polycythemia vera

Cyclin D3 deregulation by juxtaposition with IGH locus in a t(6;14)(p21;q32)-positive T-cell acute lymphoblastic leukemia

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

De novo inverted duplication 9p21pter involving telomeric repeated sequences.

De novo trisomy 20p of paternal origin

Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

Deletion of the short arm of chromosome 12 is a secondary event in acute lymphoblastic leukemia with t(12;21)

Diagnosis of chromosomal abnormalities by array CGH in constitutional pathology: the end of the first-line karyotype ⬇️

Diagnostic préimplantatoire avec typage HLA : naissance du premier enfant du double espoir en France

Enrichment, immunomorphological, and genetic characterization of fetal cells circulating in maternal blood

Enteropathy-Associated T-Cell Lymphoma Complicating an Autoimmune Enteropathy

Extensive molecular mapping of TCRα/δ- and TCRβ-involved chromosomal translocations reveals distinct mechanisms of oncogene activation in T-ALL.

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome

First fetal case of the 8q24.3 contiguous genes syndrome

First prenatally diagnosed case of 16p11.2p12.1 duplication

Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case

Five years’ experience of preimplantation genetic diagnosis in the Parisian Center: outcome of the first 441 started cycles

Fluorescence in situ hybridization (FISH) rather than ultrasound for the evaluation of fetuses at risk for 22q11.2 deletion

Formation of Nup98-containing nuclear bodies in HeLa sublines is linked to genomic rearrangements affecting chromosome 11.

Functional analysis of the NUP98-CCDC28A fusion protein

Functional disomy of the Xq28 chromosome region

Fusion of ZMIZ1 to ABL1 in a B-cell acute lymphoblastic leukaemia with a t(9;10)(q34;q22.3) translocation

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

Gluten-free diet, chromosomal abnormalities, and cancer risk in coeliac disease

HOX11L2/TLX3 is transcriptionally activated through T-cell regulatory elements downstream of BCL11B as a result of the t(5;14)(q35;q32)

High frequency of t(12;21) in childhood B-lineage acute lymphoblastic leukemia.

Identical abnormality of the short arm of chromosome 18 in two Philadelphia-positive chronic myelocytic leukemia patients with erythroblastic transformation, resulting in duplication of BCR-ABL1 fusion.

Identification of GSX2 and AF10 as NUP98 partner genes in myeloid malignancies

Identification of theIRXBGene Cluster as Candidate Genes in Severe Dysgenesis of the Ocular Anterior Segment

In situ hybridization to interphase nuclei in acute leukemia

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

Indications et résultats du diagnostic pré-implantatoire (DPI)

Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection

LRRFIP1, a new FGFR1 partner gene associated with 8p11 myeloproliferative syndrome

La CGH microarray : principe et applications en pathologie constitutionnelle

Loss of p19Arf in a Rag1(-/-) B-cell precursor population initiates acute B-lymphoblastic leukemia

L’expérience parisienne du diagnostic génétique pré-implantatoire (DPI) : bilan des premières naissances

MLL insertion with MLL-MLLT3 gene fusion in acute leukemia: case report and review of the literature

Microchimerism in renal allografts: clinicopathological associations according to the type of chimeric cells.

Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome

Molecular Cytogenetics of t(12;21)(p13;q22)

Molecular analysis of chromosomal breakpoints in three examples of chromosomal translocation involving the TEL gene

Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature.

Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region

Molecular karyotyping in human constitutional cytogenetics

Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization.

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.

Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion

NUP214-ABL1 amplification in t(5;14)/HOX11L2-positive ALL present with several forms and may have a prognostic significance.

NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogénétique Hématologique.