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List of works by Serge Romana

A CGH study of 27 patients with CHARGE association

scientific article published on 01 February 2002

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

scientific article published on 7 January 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.

scientific article published in May 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

scientific article published in March 2004

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

scientific article published on 01 January 1993

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

scientific article published on October 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

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

scientific article published on 01 April 2000

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

scientific article published on 17 October 2016

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

scientific article

Assisting reproduction of infertile men carrying a Robertsonian translocation

article

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

scientific article

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

scientific article

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

scientific article published in December 2002

Characterization of sSMC by FISH and molecular techniques

scientific article published on 03 March 2011

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

scientific article published on May 2013

Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism

scientific article

Chromosome painting in acute monocytic leukemia.

scientific article published on February 1993

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

scientific article published in October 2004

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

scientific article published in September 2001

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

scientific article published on 01 January 1998

Complex chromosomal rearrangement and intracytoplasmic sperm injection: a case report

scientific article published on 5 February 2007

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

scientific article

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

scientific article

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

scientific article published in April 2003

Cryptic translocations involving chromosome 20 in polycythemia vera

scientific article published on 01 October 2004

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

scientific article published on 08 August 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.

scientific article

De novo trisomy 20p of paternal origin

scientific article published in May 2007

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

scientific article

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 ⬇️

scientific article published on February 17, 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

scientific article published on January 2002

Enteropathy-Associated T-Cell Lymphoma Complicating an Autoimmune Enteropathy

scientific article published on 04 January 2012

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

scientific article published on 4 September 2012

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

scientific article

First birth after preimplantation genetic diagnosis performed on thawed embryos

scientific article

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

scientific article published on 31 March 2009

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

scientific article published on 30 October 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.

scientific article published on 21 December 2015

Functional analysis of the NUP98-CCDC28A fusion protein

scientific article published on 4 November 2011

Functional disomy of the Xq28 chromosome region

scientific article

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

scientific article

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

scientific article

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.

scientific article

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.

scientific article published in October 2002

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

scientific article published on 12 July 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

scientific article published on 01 October 1993

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

scientific article published on 5 November 2014

Indications et résultats du diagnostic pré-implantatoire (DPI)

scientific article published on 01 June 2006

Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection

scientific article published on 23 July 2014

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

scientific article published on 16 April 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

scientific article

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

scientific article published on 01 June 2005

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

scientific article published on May 2008

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

scientific article published in January 2010

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

scientific article published in January 2003

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

scientific article published on 01 November 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.

scientific article

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

scientific article (publication date: 2006)

Molecular karyotyping in human constitutional cytogenetics

scientific article

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

scientific article

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

scientific article published on 4 November 2012

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

scientific article published on 24 March 2014

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

scientific article

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

scientific article

NUP98-MLL fusion in human acute myeloblastic leukemia.

scientific article published on 17 June 2010

NUP98–HMGB3: a novel oncogenic fusion

scientific article published on 03 December 2009

NUP98–NSD1 fusion by insertion in acute myeloblastic leukemia

article published in 2008

New insights into genotype-phenotype correlation for GLI3 mutations

scientific article

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

scientific article published in February 2014

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

scientific article published in May 2015

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

scientific article

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

scientific article

PMX2B, a new candidate gene for Hirschsprung's disease

scientific article published in September 2003

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

scientific article

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

scientific article

Partial duplication of HRX in acute leukemia with trisomy 11.

scientific article

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

scientific article

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

article

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

scientific article

Prenatal diagnosis and characterization of an analphoid marker chromosome 16

scientific article published on 01 September 2004

Prenatal diagnosis of mosaicism for 11q terminal deletion

scientific article published on 17 July 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.

scientific article published in September 2006

Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene

scientific article published on 27 November 2007

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

scientific article published on 17 June 2008

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

scientific article published on 01 June 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

scientific article

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

scientific article

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

scientific article

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

scientific article published in September 2006

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

scientific article

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

scientific article published on 11 February 2015

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

scientific article published on 01 June 1997

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

scientific article published on 01 September 2002

[Preimplantation genetic diagnosis: update of the Parisian group]

scientific article published on 01 January 2002

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

scientific article published on 01 March 2003

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

scientific article published on 01 April 2011

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

scientific article published on March 1994

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