List of works - Serge Romana

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

scientific article published on March 1994

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

scientific article

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

scientific 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

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

scientific article

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

scientific article

The TEL gene products: nuclear phosphoproteins with DNA binding properties

scientific article

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

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

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

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

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

scientific article published on January 2002

Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection

scientific article published on 23 July 2014

New insights into genotype-phenotype correlation for GLI3 mutations

scientific article

Functional disomy of the Xq28 chromosome region

scientific article

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

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

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

scientific article

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

scientific article published in April 2003

Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism

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

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

scientific article published in May 2001

Assisting reproduction of infertile men carrying a Robertsonian translocation

article

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

scientific article

NUP98–HMGB3: a novel oncogenic fusion

scientific article published on 03 December 2009

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

scientific article published in September 2006

In situ hybridization to interphase nuclei in acute leukemia

scientific article published on 01 October 1993

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

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

scientific article

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

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

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

scientific article

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

scientific article published on 16 April 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

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

article

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

scientific article published on 4 November 2012

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

scientific article

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

scientific article (publication date: 2006)

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

article

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

NUP98-MLL fusion in human acute myeloblastic leukemia.

scientific article published on 17 June 2010

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

article

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

scientific article published on 11 February 2015

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

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

scientific article

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

scientific article published in October 2004

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

scientific article published in January 2003

De novo inverted duplication 9p21pter involving telomeric repeated sequences.

scientific article

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

List of works by Serge Romana

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

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

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

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

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

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

The TEL gene products: nuclear phosphoproteins with DNA binding properties

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

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

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

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

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

Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection

New insights into genotype-phenotype correlation for GLI3 mutations

Functional disomy of the Xq28 chromosome region

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

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

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

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

Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism

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

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

Assisting reproduction of infertile men carrying a Robertsonian translocation

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

NUP98–HMGB3: a novel oncogenic fusion

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

In situ hybridization to interphase nuclei in acute leukemia

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

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

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

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

PMX2B, a new candidate gene for Hirschsprung's disease

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

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

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

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

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

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

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

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

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

NUP98-MLL fusion in human acute myeloblastic leukemia.

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

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

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

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

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

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

De novo inverted duplication 9p21pter involving telomeric repeated sequences.

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