S. Romana

发表

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

N. Frydman, R. Frydman, E. Feyereisen, 2007, Fertility and sterility.

Mutation in TET2 in myeloid cancers.

J. Soulier, W. Vainchenker, O. Bernard, 2009, The New England journal of medicine.

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

S. Romana, M. Lelorc'h, M. Vekemans, 2002, American journal of medical genetics.

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

E. Bourel-ponchel, C. Rooryck, D. Lacombe, 2015, American journal of medical genetics. Part A.

lymphoblastic leukemia B-cell precursor population initiates acute-/-in a Rag 1 p 19 Arf Loss of

A. Fischer, C. Mullighan, A. Borkhardt, 2011 .

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

A. Fischer, C. Mullighan, A. Borkhardt, 2011, Blood.

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

A. Fischer, N. Brousse, M. Cavazzana‐Calvo, 2008, Molecular therapy : the journal of the American Society of Gene Therapy.

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

O. Bernard, C. Bastard, E. Lippert, 2013, Cancer genetics.

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

P. Marynen, R. Berger, S. Romana, 1996, Leukemia.

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

J. Vermeesch, C. Eng, D. Stoppa-Lyonnet, 2006, American journal of human genetics.

Molecular karyotyping in human constitutional cytogenetics.

S. Romana, M. Vekemans, L. Colleaux, 2005, European journal of medical genetics.

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

Gianluca Bontempi, J. Vermeesch, T. Lenaerts, 2017, Genome Medicine.

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

A. Munnich, A. Toutain, A. Verloes, 2005, European Journal of Human Genetics.

NUP98-MLL fusion in human acute myeloblastic leukemia.

O. Bernard, V. Penard-Lacronique, S. Romana, 2010, Blood.

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

M. Holder-Espinasse, A. Verloes, M. Carella, 2014, European Journal of Human Genetics.

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

S. Romana, M. Vekemans, M. Prieur, 2006, European journal of medical genetics.

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

A. Munnich, S. Lyonnet, S. Romana, 2001, European Journal of Human Genetics.

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

M. Polak, D. Lacombe, S. Romana, 2009, Human molecular genetics.

Partial chromosome 21 amplification in a child with acute lymphoblastic leukemia

R. Berger, S. Romana, M. Coniat, 1995, Genes, chromosomes & cancer.

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

V. Doye, S. Romana, I. Radford‐Weiss, 2016, Chromosoma.

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

T. Leblanc, S. Lyonnet, S. Romana, 2014, American journal of medical genetics. Part A.

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

F. Rieux-Laucat, A. Fischer, C. Picard, 2011, The Journal of clinical investigation.

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

A. Munnich, E. Souied, O. Gribouval, 2000, Human Genetics.

Classical West “syndrome” phenotype with a subtelomeric 4p trisomy

A. Verloes, M. Gerard-Blanluet, S. Romana, 2004, American journal of medical genetics. Part A.

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

J. Oury, L. Bussières, L. Salomon, 2015, Prenatal diagnosis.

Recurrent partial trisomy 1q22-q44 in clonal intraepithelial lymphocytes in refractory celiac sprue.

E. Macintyre, N. Brousse, S. Romana, 2003, Gastroenterology.

Loss of p19Arf in a Rag1 (cid:1) / (cid:1) B-cell precursor population initiates acute B-lymphoblastic leukemia

A. Borkhardt, N. Brousse, M. Cavazzana‐Calvo, 2011 .

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

A. Munnich, G. Pinto, L. Faivre, 2005, European Journal of Human Genetics.

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

V. Lazar, S. Romana, M. Till, 2008, European journal of medical genetics.

Molecular cytogenetic characterization of a 4p15.1‐pter duplication and a 4q35.1‐qter deletion in a recombinant of chromosome 4 pericentric inversion

S. Romana, G. Tachdjian, S. Brisset, 2009, American journal of medical genetics. Part A.

NUP 98-MLL fusion in human acute myeloblastic leukemia

O. Bernard, V. Penard-Lacronique, S. Romana, 2010 .

Pure proximal deletion of chromosome 21 and kyphosis.

A. Toutain, S. Romana, M. Vekemans, 2007, European journal of medical genetics.

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

A. Munnich, L. Faivre, S. Romana, 2003, American journal of medical genetics. Part A.

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.

R. Berger, F. Davi, S. Romana, 2002, Cancer genetics and cytogenetics.

New insights into genotype–phenotype correlation for GLI3 mutations

A. Munnich, A. Mégarbané, A. Afenjar, 2014, European Journal of Human Genetics.

De novo trisomy 20p of paternal origin

S. Romana, L. B. Jemaa, T. Attié-Bitach, 2007, American journal of medical genetics. Part A.

Enteropathy-associated T-cell lymphoma complicating an autoimmune enteropathy.

E. Macintyre, N. Brousse, S. Romana, 2012, Gastroenterology.

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

Y. Ville, S. Romana, M. Vekemans, 2016, American journal of medical genetics. Part A.

Acute megakaryoblastic leukemia and loss of the RUNX1 gene.

A. Hagemeijer, R. Berger, O. Bernard, 2006, Cancer genetics and cytogenetics.

LMO2-Associated Clonal T Cell Proliferation in Two Patients after Gene Therapy for SCID-X1

Cameron S. Osborne, A. Fischer, C. von Kalle, 2003, Science.

Does the prognosis after PGT for structural rearrangement differ between female and male translocation carriers?

N. Frydman, S. Romana, C. Sonigo, 2020, Reproductive biomedicine online.

The TEL gene products: nuclear phosphoproteins with DNA binding properties

R. Berger, O. Bernard, A. Tsapis, 1997, Oncogene.

Chromosomal translocations and semen quality: A study on 144 male translocation carriers.

N. Frydman, L. Tosca, S. Romana, 2019, Reproductive biomedicine online.

A Simple Method for Prenatal Diagnosis of Trisomy 21 on Uncultured Amniocytes

R. Berger, D. Cohen, S. Romana, 1993, European journal of human genetics : EJHG.

Assisting reproduction of infertile men carrying a Robertsonian translocation.

N. Frydman, R. Frydman, S. Romana, 2001, Human reproduction.

Functional analysis of the NUP98-CCDC28A fusion protein

O. Bernard, V. Penard-Lacronique, S. Schneider-Maunoury, 2012, Haematologica.

Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment.

P. Calvas, S. Romana, M. Vekemans, 2010, Investigative ophthalmology & visual science.

Chromosome painting in acute monocytic leukemia

R. Berger, S. Romana, D. Chérif, 1993, Genes, chromosomes & cancer.

BCL11B elements downstream of is transcriptionally activated through T-cell regulatory TLX3 / HOX11L2

R. Berger, O. Bernard, S. Romana, 2013 .

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

R. Berger, O. Bernard, V. Penard-Lacronique, 2006, Blood.

HOX 11 L 2 / TLX 3 is transcriptionally activated through T-cell regulatory elements downstream of BCL 11 B as a result of the t ( 5 ; 14 ) ( q 35 ; q 32 )

R. Berger, O. Bernard, V. Penard-Lacronique, 2006 .

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

A. Ferrando, R. Berger, V. Della Valle, 2004, Genes, chromosomes & cancer.

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

R. Berger, S. Romana, M. Coniat, 1994, Genes, chromosomes & cancer.

Short communication NUP98eNSD1 fusion by insertion in acute myeloblastic leukemia

R. Berger, S. Romana, I. Radford, 2008 .

NUP98-NSD1 fusion by insertion in acute myeloblastic leukemia.

R. Berger, S. Romana, I. Radford, 2008, Cancer genetics and cytogenetics.

De novo inverted duplication 9p21pter involving telomeric repeated sequences.

S. Romana, G. Tachdjian, C. Baumann, 1999, American journal of medical genetics.

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

J. Soulier, E. Clappier, R. Berger, 2006, Genes, chromosomes & cancer.

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

P. Bénit, G. Gyapay, J. Weissenbach, 2002, Human molecular genetics.

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

V. Doye, S. Romana, I. Radford‐Weiss, 2016, Chromosoma.

16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing

A. Hastie, C. Bole-Feysot, P. Nitschké, 2022, European Journal of Human Genetics.

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

Y. Ville, L. Salomon, J. Bernard, 2016, Cytogenetic and Genome Research.

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

S. Romana, V. Malan, 2012, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization

Patrick Callier, Antonio Vitobello, Yannis Duffourd, 2020, Molecular genetics & genomic medicine.

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

S. Romana, M. Till, D. Sanlaville, 2008, European journal of medical genetics.

La CGH microarray : principe et applications en pathologie constitutionnelle

J. Vermeesch, A. Aurias, S. Romana, 2005 .

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

A. Aurias, F. Da Silva, S. Romana, 1998, Annales de genetique.

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

A. Fischer, J. Casanova, E. Macintyre, 2003, The Journal of clinical investigation.

In situ hybridization to interphase nuclei in acute leukemia

R. Berger, M. Flexor, S. Romana, 1993, Genes, chromosomes & cancer.

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

B. Nadel, J. Soulier, H. Dombret, 2012, Blood.

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

A. Munnich, L. Pasquier, L. Faivre, 2002, European Journal of Human Genetics.

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

F. Terro, C. Yardin, S. Romana, 2008, Prenatal diagnosis.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

S. Julia, R. Touraine, A. Afenjar, 2018, Journal of Medical Genetics.

Functional disomy of the Xq28 chromosome region

A. Munnich, S. Romana, M. Vekemans, 2005, European Journal of Human Genetics.

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

D. MacArthur, L. Vissers, M. Reijnders, 2016, American journal of human genetics.

Cryptic translocations involving chromosome 20 in polycythemia vera.

R. Berger, O. Bernard, S. Romana, 2004, Annales de genetique.

22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype

A. Munnich, C. Barthélémy, S. Roux, 2018, Translational Psychiatry.

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

A. Munnich, R. Fanchin, P. Burlet, 2011, Bulletin de l'Academie nationale de medecine.

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

S. Romana, N. Cerf-Bensussan, V. Verkarre, 2004, Journal of pediatric gastroenterology and nutrition.

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

R. Berger, R. Marschalek, C. Meyer, 2008, Cancer genetics and cytogenetics.

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

A. Munnich, J. Soulier, D. Lacombe, 2010, European Journal of Human Genetics.

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

A. Munnich, N. Frydman, R. Frydman, 2002, Molecular human reproduction.

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

G. Salles, F. Berger, E. Macintyre, 2017, Genes, chromosomes & cancer.

Prenatal diagnosis of mosaicism for 11q terminal deletion.

C. Philippe, P. Jonveaux, S. Romana, 2007, European journal of medical genetics.

Characterization of sSMC by FISH and molecular techniques.

T. Liehr, S. Nampoothiri, S. Romana, 2011, European journal of medical genetics.

Reply to Salviati et al.

J. Vermeesch, C. Eng, D. Stoppa-Lyonnet, 2006 .

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

S. Romana, J. Martinovic, D. Bonnet, 2003, Prenatal diagnosis.

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

S. Romana, M. Vekemans, I. Radford‐Weiss, 2001, Genes, chromosomes & cancer.

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

N. Frydman, R. Fanchin, R. Frydman, 2003, Journal de gynecologie, obstetrique et biologie de la reproduction.

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

A. Munnich, R. Frydman, S. Romana, 2002, Journal de gynecologie, obstetrique et biologie de la reproduction.

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

N. Frydman, E. Feyereisen, J. Steffann, 2005, Medecine sciences : M/S.

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

S. Romana, M. Vekemans, S. Brisset, 2003, Prenatal Diagnosis.

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

E. Macintyre, R. Berger, P. Jonveaux, 1995, Blood.

Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome.

B Claustrat, M Vekemans, A. Munnich, 2001, The Journal of pediatrics.

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

D. Le Paslier, D. Paslier, R. Berger, 1995, Blood.

Isolation by size of epithelial tumor cells : a new method for the immunomorphological and molecular characterization of circulatingtumor cells.

K. Schütze, A. Sabile, C. Bréchot, 2000, The American journal of pathology.

Clinical Molecular Cytogenetics

S. Romana, M. Vekemans, 2006 .

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

A. Munnich, A. Aurias, S. Romana, 2001, Clinical genetics.

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

S. Romana, M. Vekemans, I. Radford‐Weiss, 2009, Leukemia.