S. Romana

发表

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

J. Steffann, M. Vekemans, L. Colleaux, 2016, Clinical genetics.

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

A. Munnich, M. Vekemans, M. D. de Blois, 2003, Journal of medical genetics.

High-resolution manometry: A new gold standard to diagnose esophageal dysmotility?

S. Romana, J. Pandolfinoc, F. Miona, 2009 .

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

A. Munnich, S. Lyonnet, M. Vekemans, 2002, Journal of medical genetics.

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

R. Berger, O. Bernard, I. Tigaud, 2006, Leukemia.

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

O. Bernard, V. Penard-Lacronique, E. Delabesse, 2013, Blood Cancer Journal.

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

A. Hagemeijer, O. Bernard, H. Berghe, 2014, Leukemia.

Secondary acute myeloblastic leukemia with t(16;21) (q24;q22). involving the AML1 gene.

R. Berger, P. Jonveaux, S. Romana, 1996, Hematology and cell therapy.

Pure partial 7p trisomy including the TWIST,HOXA, and GLI3genes

A. Mégarbané, M. Vekemans, M. Prieur, 2001, Journal of medical genetics.

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

R. Berger, V. D. Valle, M. Mauchauffé, 1999, Leukemia.

Partial duplication of HRX in acute leukemia with trisomy 11.

R. Berger, S. Schichman, P. Jonveaux, 1995, Leukemia.

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

R. Berger, M. Flexor, D. Chérif, 1993, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.

Complex chromosomal rearrangement and intracytoplasmic sperm injection: a case report.

C. Le Caignec, N. Rives, S. Romana, 2007, Human reproduction.

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

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

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

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

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

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

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

A. Munnich, L. Faivre, S. Jacquemont, 2002, Journal of medical genetics.

PMX2B, a new candidate gene for Hirschsprung's disease

M. Vekemans, J. Amiel, B. Laudier, 2003, Clinical genetics.

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

P. Marynen, R. Berger, O. Bernard, 2005, Leukemia.

Electro-clinical features in epileptic children with chromosome 15q duplication syndrome

M. Bourgeois, R. Nabbout, A. Kaminska, 2021, Clinical Neurophysiology.

A CGH study of 27 patients with CHARGE association

S. Lyonnet, C. Baumann, M. Vekemans, 2002, Clinical genetics.

Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism.

C. Bellanné-Chantelot, Y. Aigrain, P. de Lonlay, 2008, The Journal of clinical endocrinology and metabolism.

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

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

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

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

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

A. Munnich, L. Faivre, M. Vekemans, 2000, American journal of medical genetics.

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

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

NUP98–HMGB3: a novel oncogenic fusion

O. Bernard, V. Penard-Lacronique, V. Della-Valle, 2010, Leukemia.

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

A. Munnich, A. Bernheim, M. Vekemans, 2013, Clinical genetics.

Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene

A. Munnich, M. Vekemans, M. Prieur, 2007, Clinical genetics.

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

O. Bernard, E. Chapiro, F. Nguyen‐Khac, 2010, Leukemia research.

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

O. Bernard, N. Mahlaoui, M. Vekemans, 2008, Leukemia.

Molecular cytogenetics of t(12;21) (p13;q22).

R. Berger, S. Romana, H. Poirel, 1996, Leukemia & lymphoma.

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

A. Munnich, M. Vekemans, L. Colleaux, 2004, Annales de biologie clinique.

Translocation t(3;22)(q27;q11) in non-Hodgkin's malignant lymphoma: chromosome painting and molecular studies.

R. Berger, C. Bastard, S. Romana, 1993, Leukemia.

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

L. Faivre, S. Jacquemont, M. Vekemans, 2002, Journal of medical genetics.