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Items: 1 to 50 of 144

1.

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, Doco-Fenzy M, Landais E, Philippe C, Marle N, Callier P, Mosca-Boidron AL, Mugneret F, Le Meur N, Goldenberg A, Guerrot AM, Chambon P, Satre V, Coutton C, Jouk PS, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard ML, Addor MC, Lebon S, Martinet D, Alessandri JL, Doray B, Miguet M, Devys D, Saugier-Veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet AC, Thevenon J, Thauvin-Robinet C, Perreton N, Des Portes V, Faivre L.

Clin Genet. 2017 Apr;91(4):576-588. doi: 10.1111/cge.12898. Epub 2017 Feb 16.

PMID:
27761913
2.

NUP98 is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis.

Struski S, Lagarde S, Bories P, Puiseux C, Prade N, Cuccuini W, Pages MP, Bidet A, Gervais C, Lafage-Pochitaloff M, Roche-Lestienne C, Barin C, Penther D, Nadal N, Radford-Weiss I, Collonge-Rame MA, Gaillard B, Mugneret F, Lefebvre C, Bart-Delabesse E, Petit A, Leverger G, Broccardo C, Luquet I, Pasquet M, Delabesse E.

Leukemia. 2017 Mar;31(3):565-572. doi: 10.1038/leu.2016.267. Epub 2016 Oct 3.

PMID:
27694926
3.

Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.

Gruchy N, Blondeel E, Le Meur N, Joly-Hélas G, Chambon P, Till M, Herbaux M, Vigouroux-Castera A, Coussement A, Lespinasse J, Amblard F, Jimenez Pocquet M, Lebel-Roy C, Carré-Pigeon F, Flori E, Mugneret F, Jaillard S, Yardin C, Harbuz R, Collonge-Rame MA, Vago P, Valduga M, Leporrier N, Vialard F.

Prenat Diagn. 2016 Jun;36(6):523-9. doi: 10.1002/pd.4817. Epub 2016 May 10.

PMID:
27018091
4.

Genetic differences between paediatric and adult Burkitt lymphomas.

Havelange V, Pepermans X, Ameye G, Théate I, Callet-Bauchu E, Barin C, Penther D, Lippert E, Michaux L, Mugneret F, Dastugue N, Raphaël M, Vikkula M, Poirel HA.

Br J Haematol. 2016 Apr;173(1):137-44. doi: 10.1111/bjh.13925. Epub 2016 Feb 16.

PMID:
26887776
5.

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

Mosca-Boidron AL, Gueneau L, Huguet G, Goldenberg A, Henry C, Gigot N, Pallesi-Pocachard E, Falace A, Duplomb L, Thevenon J, Duffourd Y, St-Onge J, Chambon P, Rivière JB, Thauvin-Robinet C, Callier P, Marle N, Payet M, Ragon C, Goubran Botros H, Buratti J, Calderari S, Dumas G, Delorme R, Lagarde N, Pinoit JM, Rosier A, Masurel-Paulet A, Cardoso C, Mugneret F, Saugier-Veber P, Campion D, Faivre L, Bourgeron T.

Eur J Hum Genet. 2016 Jun;24(6):838-43. doi: 10.1038/ejhg.2015.211. Epub 2015 Sep 23.

6.

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.

El Chehadeh S, Bonnet C, Callier P, Béri M, Dupré T, Payet M, Ragon C, Mosca-Boidron AL, Marle N, Mugneret F, Masurel-Paulet A, Thevenon J, Seta N, Duplomb L, Jonveaux P, Faivre L, Thauvin-Robinet C.

JIMD Rep. 2015;20:45-55. doi: 10.1007/8904_2014_390. Epub 2015 Jan 28.

7.

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.

Thevenon J, Monnier N, Callier P, Dieterich K, Francoise M, Montgomery T, Kjaergaard S, Neas K, Dixon J, Dahm TL, Huet F, Ragon C, Mosca-Boidron AL, Marle N, Duplomb L, Aubriot-Lorton MH, Mugneret F, Vokes SA, Tucker HW, Lunardi J, Faivre L, Jouk PS, Thauvin-Robinet C.

Am J Med Genet A. 2014 Dec;164A(12):3027-34. doi: 10.1002/ajmg.a.36751. Epub 2014 Sep 24.

PMID:
25258245
8.

Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases.

Gruchy N, Vialard F, Blondeel E, Le Meur N, Joly-Hélas G, Chambon P, Till M, Herbaut-Graux M, Vigouroux-Castera A, Coussement A, Lespinasse J, Amblard F, Jimenez M, Lebel Roy Camille L, Carré-Pigeon F, Flori E, Mugneret F, Jaillard S, Yardin C, Harbuz R, Collonge Rame M, Vago P, Valduga M, Leporrier N.

Prenat Diagn. 2014 Dec;34(12):1133-8. doi: 10.1002/pd.4439. Epub 2014 Jul 22.

PMID:
24961405
9.

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.

Callier P, Calvel P, Matevossian A, Makrythanasis P, Bernard P, Kurosaka H, Vannier A, Thauvin-Robinet C, Borel C, Mazaud-Guittot S, Rolland A, Desdoits-Lethimonier C, Guipponi M, Zimmermann C, Stévant I, Kuhne F, Conne B, Santoni F, Lambert S, Huet F, Mugneret F, Jaruzelska J, Faivre L, Wilhelm D, Jégou B, Trainor PA, Resh MD, Antonarakis SE, Nef S.

PLoS Genet. 2014 May 1;10(5):e1004340. doi: 10.1371/journal.pgen.1004340. eCollection 2014 May.

10.

14q deletions are associated with trisomy 12, NOTCH1 mutations and unmutated IGHV genes in chronic lymphocytic leukemia and small lymphocytic lymphoma.

Cosson A, Chapiro E, Belhouachi N, Cung HA, Keren B, Damm F, Algrin C, Lefebvre C, Fert-Ferrer S, Luquet I, Gachard N, Mugneret F, Terre C, Collonge-Rame MA, Michaux L, Rafdord-Weiss I, Talmant P, Veronese L, Nadal N, Struski S, Barin C, Helias C, Lafage M, Lippert E, Auger N, Eclache V, Roos-Weil D, Leblond V, Settegrana C, Maloum K, Davi F, Merle-Beral H, Lesty C, Nguyen-Khac F; Groupe Francophone de Cytogénétique Hématologique.

Genes Chromosomes Cancer. 2014 Aug;53(8):657-66. doi: 10.1002/gcc.22176. Epub 2014 Apr 12.

PMID:
24729385
11.

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes.

Besseau-Ayasse J, Violle-Poirsier C, Bazin A, Gruchy N, Moncla A, Girard F, Till M, Mugneret F, Coussement A, Pelluard F, Jimenez M, Vago P, Portnoï MF, Dupont C, Beneteau C, Amblard F, Valduga M, Bresson JL, Carré-Pigeon F, Le Meur N, Tapia S, Yardin C, Receveur A, Lespinasse J, Pipiras E, Beaujard MP, Teboul P, Brisset S, Catty M, Nowak E, Douet Guilbert N, Lallaoui H, Bouquillon S, Gatinois V, Joly-Helas G, Prieur F, Cartault F, Martin D, Kleinfinger P, Molina Gomes D, Doco-Fenzy M, Vialard F.

Prenat Diagn. 2014 May;34(5):424-30. doi: 10.1002/pd.4321. Epub 2014 Feb 12.

PMID:
24395195
12.

Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.

Degrolard-Courcet E, Sokolowska J, Padeano MM, Guiu S, Bronner M, Chery C, Coron F, Lepage C, Chapusot C, Loustalot C, Jouve JL, Hatem C, Ferrant E, Martin L, Coutant C, Baurand A, Couillault G, Delignette A, El Chehadeh S, Lizard S, Arnould L, Fumoleau P, Callier P, Mugneret F, Philippe C, Frebourg T, Jonveaux P, Faivre L.

Eur J Hum Genet. 2014 Aug;22(8):979-87. doi: 10.1038/ejhg.2013.278. Epub 2013 Dec 4. Review.

13.

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

Thevenon J, Callier P, Poquet H, Bache I, Menten B, Malan V, Cavaliere ML, Girod JP, Thauvin-Robinet C, El Chehadeh S, Pinoit JM, Huet F, Verges B, Petit JM, Mosca-Boidron AL, Marle N, Mugneret F, Masurel-Paulet A, Novelli A, Tümer Z, Loeys B, Lyonnet S, Faivre L.

J Med Genet. 2014 Jan;51(1):21-7. doi: 10.1136/jmedgenet-2013-101939. Epub 2013 Oct 16.

PMID:
24133203
14.

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

Chapiro E, Radford-Weiss I, Cung HA, Dastugue N, Nadal N, Taviaux S, Barin C, Struski S, Talmant P, Vandenberghe P, Mozziconacci MJ, Tigaud I, Lefebvre C, Penther D, Bastard C, Lippert E, Mugneret F, Romana S, Bernard OA, Harrison CJ, Russell LJ, Nguyen-Khac F; Groupe Francophone de Cytogénétique Hématologique.

Cancer Genet. 2013 May;206(5):162-73. doi: 10.1016/j.cancergen.2013.04.004. Epub 2013 Jul 1. Review.

PMID:
23827691
15.

Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.

Avila M, Kirchhoff M, Marle N, Hove HD, Chouchane M, Thauvin-Robinet C, Masurel A, Mosca-Boidron AL, Callier P, Mugneret F, Kjaergaard S, Faivre L.

Am J Med Genet A. 2013 Jul;161A(7):1594-8. doi: 10.1002/ajmg.a.35970. Epub 2013 May 22.

PMID:
23704076
16.

Additional evidence to support the role of the 20q13.33 region in susceptibility to autism.

Mosca-Boidron AL, Valduga M, Thauvin-Robinet C, Lagarde N, Marle N, Henry C, Pinoit JM, Huet F, Béri-Deixheimer M, Ragon C, Gueneau L, Payet M, Callier P, Mugneret F, Jonveaux P, Faivre L.

Am J Med Genet A. 2013 Jun;161A(6):1505-7. doi: 10.1002/ajmg.a.35878. Epub 2013 Apr 23. No abstract available.

PMID:
23613186
17.

An improved method to extract DNA from 1 ml of uncultured amniotic fluid from patients at less than 16 weeks' gestation.

Mosca-Boidron AL, Faivre L, Aho S, Marle N, Truntzer C, Rousseau T, Ragon C, Payet M, Thauvin-Robinet C, Thevenon J, El Chehadeh S, Huet F, Sagot P, Mugneret F, Callier P.

PLoS One. 2013;8(4):e59956. doi: 10.1371/journal.pone.0059956. Epub 2013 Apr 2.

18.

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.

Callier P, Aral B, Hanna N, Lambert S, Dindy H, Ragon C, Payet M, Collod-Beroud G, Carmignac V, Delrue MA, Goizet C, Philip N, Busa T, Dulac Y, Missotte I, Sznajer Y, Toutain A, Francannet C, Megarbane A, Julia S, Edouard T, Sarda P, Amiel J, Lyonnet S, Cormier-Daire V, Gilbert B, Jacquette A, Heron D, Collignon P, Lacombe D, Morice-Picard F, Jouk PS, Cusin V, Willems M, Sarrazin E, Amarof K, Coubes C, Addor MC, Journel H, Colin E, Khau Van Kien P, Baumann C, Leheup B, Martin-Coignard D, Doco-Fenzy M, Goldenberg A, Plessis G, Thevenon J, Pasquier L, Odent S, Vabres P, Huet F, Marle N, Mosca-Boidron AL, Mugneret F, Gauthier S, Binquet C, Thauvin-Robinet C, Jondeau G, Boileau C, Faivre L.

Clin Genet. 2013 Dec;84(6):507-21. doi: 10.1111/cge.12094. Epub 2013 Mar 18.

19.

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.

Marle N, Martinet D, Aboura A, Joly-Helas G, Andrieux J, Flori E, Puechberty J, Vialard F, Sanlaville D, Fert Ferrer S, Bourrouillou G, Tabet AC, Quilichini B, Simon-Bouy B, Bazin A, Becker M, Stora H, Amblard S, Doco-Fenzy M, Molina Gomes D, Girard-Lemaire F, Cordier MP, Satre V, Schneider A, Lemeur N, Chambon P, Jacquemont S, Fellmann F, Vigouroux-Castera A, Molignier R, Delaye A, Pipiras E, Liquier A, Rousseau T, Mosca AL, Kremer V, Payet M, Rangon C, Mugneret F, Aho S, Faivre L, Callier P.

Clin Genet. 2014 Mar;85(3):233-44. doi: 10.1111/cge.12138. Epub 2013 Apr 5.

PMID:
23489061
20.

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.

Leroy C, Landais E, Briault S, David A, Tassy O, Gruchy N, Delobel B, Grégoire MJ, Leheup B, Taine L, Lacombe D, Delrue MA, Toutain A, Paubel A, Mugneret F, Thauvin-Robinet C, Arpin S, Le Caignec C, Jonveaux P, Beri M, Leporrier N, Motte J, Fiquet C, Brichet O, Mozelle-Nivoix M, Sabouraud P, Golovkine N, Bednarek N, Gaillard D, Doco-Fenzy M.

Eur J Hum Genet. 2013 Jun;21(6):602-12. doi: 10.1038/ejhg.2012.230. Epub 2012 Oct 17.

21.

Chromosomal aberrations and their prognostic value in a series of 174 untreated patients with Waldenström's macroglobulinemia.

Nguyen-Khac F, Lambert J, Chapiro E, Grelier A, Mould S, Barin C, Daudignon A, Gachard N, Struski S, Henry C, Penther D, Mossafa H, Andrieux J, Eclache V, Bilhou-Nabera C, Luquet I, Terre C, Baranger L, Mugneret F, Chiesa J, Mozziconacci MJ, Callet-Bauchu E, Veronese L, Blons H, Owen R, Lejeune J, Chevret S, Merle-Beral H, Leblondon V; Groupe Français d'Etude de la Leucémie Lymphoïde Chronique et Maladie de Waldenström (GFCLL/MW); Groupe Ouest-Est d’étude des Leucémie Aiguës et Autres Maladies du Sang (GOELAMS); Groupe d’Etude des Lymphomes de l’Adulte (GELA).

Haematologica. 2013 Apr;98(4):649-54. doi: 10.3324/haematol.2012.070458. Epub 2012 Oct 12.

22.

Patterns of genomic aberrations suggest that Burkitt lymphomas with complex karyotype are distinct from other aggressive B-cell lymphomas with MYC rearrangement.

Havelange V, Ameye G, Théate I, Callet-Bauchu E, Mugneret F, Michaux L, Dastugue N, Penther D, Barin C, Collonge-Rame MA, Baranger L, Terré C, Nadal N, Lippert E, Laï JL, Cabrol C, Tigaud I, Herens C, Hagemeijer A, Raphael M, Libouton JM, Poirel HA; GFCH (Groupe Francophone de Cytogénétique Hématologique).

Genes Chromosomes Cancer. 2013 Jan;52(1):81-92. doi: 10.1002/gcc.22008. Epub 2012 Sep 25.

PMID:
23012230
23.

Specific skin lesions in chronic myelomonocytic leukemia: a spectrum of myelomonocytic and dendritic cell proliferations: a study of 42 cases.

Vitte F, Fabiani B, Bénet C, Dalac S, Balme B, Delattre C, Vergier B, Beylot-Barry M, Vignon-Pennamen D, Ortonne N, Algros MP, Carlotti A, Samaleire D, Frouin E, Levy A, Laroche L, Theate I, Monnien F, Mugneret F, Petrella T.

Am J Surg Pathol. 2012 Sep;36(9):1302-16.

PMID:
22895265
24.

PICALM-MLLT10 acute myeloid leukemia: a French cohort of 18 patients.

Borel C, Dastugue N, Cances-Lauwers V, Mozziconacci MJ, Prebet T, Vey N, Pigneux A, Lippert E, Visanica S, Legrand F, Rault JP, Taviaux S, Bastard C, Mugneret F, Collonges Rames MA, Gachard N, Talmant P, Delabesse E, Récher C.

Leuk Res. 2012 Nov;36(11):1365-9. doi: 10.1016/j.leukres.2012.07.008. Epub 2012 Aug 5.

PMID:
22871473
25.

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.

Thevenon J, Callier P, Andrieux J, Delobel B, David A, Sukno S, Minot D, Mosca Anne L, Marle N, Sanlaville D, Bonnet M, Masurel-Paulet A, Levy F, Gaunt L, Farrell S, Le Caignec C, Toutain A, Carmignac V, Mugneret F, Clayton-Smith J, Thauvin-Robinet C, Faivre L.

Eur J Hum Genet. 2013 Jan;21(1):82-8. doi: 10.1038/ejhg.2012.116. Epub 2012 Jun 20.

26.

Alpha-interferon secreting blastic plasmacytoid dendritic cells neoplasm: a case report with histological, molecular genetics and long-term tumor cells culture studies.

Petrella T, Hervé G, Bonnotte B, Girodon F, Carlson JA, Bour JB, Lebon P, Mugneret F, Callier P.

Am J Dermatopathol. 2012 Aug;34(6):626-31. doi: 10.1097/DAD.0b013e31824d689c.

PMID:
22534638
27.

Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability.

Bonnet C, Masurel-Paulet A, Khan AA, Béri-Dexheimer M, Callier P, Mugneret F, Philippe C, Thauvin-Robinet C, Faivre L, Jonveaux P.

Hum Mutat. 2012 Feb;33(2):355-8. doi: 10.1002/humu.21649. Epub 2011 Nov 28.

PMID:
22124977
28.

PRDM16 (1p36) translocations define a distinct entity of myeloid malignancies with poor prognosis but may also occur in lymphoid malignancies.

Duhoux FP, Ameye G, Montano-Almendras CP, Bahloula K, Mozziconacci MJ, Laibe S, Wlodarska I, Michaux L, Talmant P, Richebourg S, Lippert E, Speleman F, Herens C, Struski S, Raynaud S, Auger N, Nadal N, Rack K, Mugneret F, Tigaud I, Lafage M, Taviaux S, Roche-Lestienne C, Latinne D, Libouton JM, Demoulin JB, Poirel HA; Groupe Francophone de Cytogénétique Hématologique (GFCH); Belgian Cytogenetic Group for Haematology and Oncology (BCG-HO).

Br J Haematol. 2012 Jan;156(1):76-88. doi: 10.1111/j.1365-2141.2011.08918.x. Epub 2011 Nov 3.

PMID:
22050763
29.

Refinement of 1p36 alterations not involving PRDM16 in myeloid and lymphoid malignancies.

Duhoux FP, Ameye G, Lambot V, Herens C, Lambert F, Raynaud S, Wlodarska I, Michaux L, Roche-Lestienne C, Labis E, Taviaux S, Chapiro E, Nguyen-Khac F, Struski S, Dobbelstein S, Dastugue N, Lippert E, Speleman F, Van Roy N, De Weer A, Rack K, Talmant P, Richebourg S, Mugneret F, Tigaud I, Mozziconacci MJ, Laibe S, Nadal N, Terré C, Libouton JM, Decottignies A, Vikkula M, Poirel HA; Groupe Francophone de Cytogénétique Hématologique (GFCH); Belgian Cytogenetic Group for Hematology and Oncology (BCG-HO).

PLoS One. 2011;6(10):e26311. doi: 10.1371/journal.pone.0026311. Epub 2011 Oct 21. Erratum in: PLoS One. 2011 Dec 13;6(12). doi: 10.1371/annotation/3b5aaa87-72b6-49d3-9ec9-f4a656e12e3a. Khac, Florence Nguyen [corrected to Nguyen-Khac, Florence].

30.

A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region.

Mosca AL, Callier P, Faivre L, Laurent N, Rousseau T, Marle N, Payet M, Guy H, Couvreur S, Masurel-Paulet A, Sagot P, Thauvin-Robinet C, Mugneret F.

Am J Med Genet A. 2011 Aug;155A(8):2031-4. doi: 10.1002/ajmg.a.34105. Epub 2011 Jul 7. No abstract available.

PMID:
21739595
31.

What can we learn from old microdeletion syndromes using array-CGH screening?

Mosca-Boidron AL, Bouquillon S, Faivre L, Callier P, Andrieux J, Marle N, Bonnet C, Vincent-Delorme C, Berri M, Plessis G, Manouvrier-Hanu S, Dieux-Coeslier A, Thauvin-Robinet C, Pipiras E, Delahaye A, Payet M, Ragon C, Masurel-Paulet A, Questiaux E, Benzacken B, Jonveaux P, Mugneret F, Holder-Espinasse M.

Clin Genet. 2012 Jul;82(1):41-7. doi: 10.1111/j.1399-0004.2011.01747.x. Epub 2011 Jul 26.

PMID:
21722100
32.

Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses.

Mosca AL, Pinson L, Andrieux J, Copin H, Bigi N, Puechberty J, Sarda P, Receveur A, Sevestre H, Pigeonnat S, Marle N, Payet M, Ragon C, Rousseau T, Thauvin-Robinet C, Masurel-Paulet A, Schneider A, Laurent N, Sagot P, Mugneret F, Lefort G, Faivre L, Callier P.

Prenat Diagn. 2011 Sep;31(9):912-4. doi: 10.1002/pd.2793. Epub 2011 Jun 27. No abstract available.

PMID:
21706508
33.

Dismal prognostic value of monosomal karyotype in elderly patients with acute myeloid leukemia: a GOELAMS study of 186 patients with unfavorable cytogenetic abnormalities.

Perrot A, Luquet I, Pigneux A, Mugneret F, Delaunay J, Harousseau JL, Barin C, Cahn JY, Guardiola P, Himberlin C, Recher C, Vey N, Lioure B, Ojeda-Uribe M, Fegueux N, Berthou C, Randriamalala E, Béné MC, Ifrah N, Witz F; Groupe Ouest-Est des Leucémies Aiguës et Maladies du Sang.

Blood. 2011 Jul 21;118(3):679-85. doi: 10.1182/blood-2010-09-307264. Epub 2011 May 26.

34.

17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.

El Chehadeh-Djebbar S, Callier P, Masurel-Paulet A, Bensignor C, Méjean N, Payet M, Ragon C, Durand C, Marle N, Mosca-Boidron AL, Huet F, Mugneret F, Faivre L, Thauvin-Robinet C.

Eur J Med Genet. 2011 May-Jun;54(3):369-73. doi: 10.1016/j.ejmg.2011.03.001. Epub 2011 Mar 30.

PMID:
21397059
35.

The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome.

El Chehadeh-Djebbar S, Faivre L, Moncla A, Aral B, Missirian C, Popovici C, Rump P, Van Essen A, Frances AM, Gigot N, Cusin V, Masurel-Paulet A, Gueneau L, Payet M, Ragon C, Marle N, Mosca-Boidron AL, Huet F, Balikova I, Teyssier JR, Mugneret F, Thauvin-Robinet C, Callier P.

J Med Genet. 2011 Nov;48(11):e1. doi: 10.1136/jmg.2011.088948. Epub 2011 Feb 17. No abstract available.

PMID:
21330571
36.

De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection.

Thevenon J, Callier P, Thauvin-Robinet C, Mejean N, Falcon-Eicher S, Maynadie M, de Maistre E, Bidot S, Huet F, Beri-Dexheimer M, Jonveaux P, Mugneret F, Faivre L.

Am J Med Genet A. 2011 Jan;155A(1):126-9. doi: 10.1002/ajmg.a.33809. No abstract available.

PMID:
21204219
37.

Specific chromosomal IG translocations have different prognoses in chronic lymphocytic leukemia.

Nguyen-Khac F, Chapiro E, Lesty C, Grelier A, Luquet I, Radford-Weiss I, Lefebvre C, Fert-Ferrer S, Callet-Bauchu E, Lippert E, Raggueneau V, Michaux L, Barin C, Collonge-Rame MA, Mugneret F, Eclache V, Taviaux S, Dastugue N, Richebourg S, Struski S, Talmant P, Baranger L, Gachard N, Gervais C, Quilichini B, Settegrana C, Maloum K, Davi F, Merle-Béral H.

Am J Blood Res. 2011;1(1):13-21. Epub 2011 Apr 15.

38.

Twenty-five years of epidemiological recording on myeloid malignancies: data from the specialized registry of hematologic malignancies of Cote d'Or (Burgundy, France).

Maynadié M, Girodon F, Manivet-Janoray I, Mounier M, Mugneret F, Bailly F, Favre B, Caillot D, Petrella T, Flesch M, Carli PM.

Haematologica. 2011 Jan;96(1):55-61. doi: 10.3324/haematol.2010.026252. Epub 2010 Oct 22.

39.

Chromosomal abnormalities in transformed Ph-negative myeloproliferative neoplasms are associated to the transformation subtype and independent of JAK2 and the TET2 mutations.

Nguyen-Khac F, Lesty C, Eclache V, Couronné L, Kosmider O, Andrieux J, Collonge-Rame MA, Penther D, Lafage M, Bilhou-Nabera C, Chapiro E, Mozziconacci MJ, Mugneret F, Gachard N, Nadal N, Lippert E, Struski S, Dastugue N, Cabrol C, Bernard OA; Groupe Francophone de Cytogénétique Hématologique.

Genes Chromosomes Cancer. 2010 Oct;49(10):919-27. doi: 10.1002/gcc.20802.

PMID:
20629097
40.

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.

Bonnet C, Andrieux J, Béri-Dexheimer M, Leheup B, Boute O, Manouvrier S, Delobel B, Copin H, Receveur A, Mathieu M, Thiriez G, Le Caignec C, David A, de Blois MC, Malan V, Philippe A, Cormier-Daire V, Colleaux L, Flori E, Dollfus H, Pelletier V, Thauvin-Robinet C, Masurel-Paulet A, Faivre L, Tardieu M, Bahi-Buisson N, Callier P, Mugneret F, Edery P, Jonveaux P, Sanlaville D.

J Med Genet. 2010 Jun;47(6):377-84. doi: 10.1136/jmg.2009.071902.

PMID:
20522426
41.

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.

Faivre L, Khau Van Kien P, Callier P, Ruiz-Pallares N, Baudoin C, Plancke A, Wolf JE, Thauvin-Robinet C, Durand E, Minot D, Dulieu V, Metaizeau JD, Leheup B, Coron F, Bidot S, Huet F, Jondeau G, Boileau C, Claustres M, Mugneret F.

Eur J Med Genet. 2010 Jul-Aug;53(4):208-12. doi: 10.1016/j.ejmg.2010.05.002. Epub 2010 May 15.

PMID:
20478419
42.

Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndrome.

Mosca AL, Callier P, Masurel-Paulet A, Thauvin-Robinet C, Marle N, Nouchy M, Huet F, Dipanda D, De Paepe A, Coucke P, Mugneret F, Faivre L.

Am J Med Genet A. 2010 May;152A(5):1314-7. doi: 10.1002/ajmg.a.33254. No abstract available.

PMID:
20425843
43.

Delineation of 15q13.3 microdeletions.

Masurel-Paulet A, Andrieux J, Callier P, Cuisset JM, Le Caignec C, Holder M, Thauvin-Robinet C, Doray B, Flori E, Alex-Cordier MP, Beri M, Boute O, Delobel B, Dieux A, Vallee L, Jaillard S, Odent S, Isidor B, Beneteau C, Vigneron J, Bilan F, Gilbert-Dussardier B, Dubourg C, Labalme A, Bidon C, Gautier A, Pernes P, Pinoit JM, Huet F, Mugneret F, Aral B, Jonveaux P, Sanlaville D, Faivre L.

Clin Genet. 2010 Aug;78(2):149-61. doi: 10.1111/j.1399-0004.2010.01374.x. Epub 2010 Feb 9.

PMID:
20236110
44.

Wide diversity of PAX5 alterations in B-ALL: a Groupe Francophone de Cytogenetique Hematologique study.

Coyaud E, Struski S, Prade N, Familiades J, Eichner R, Quelen C, Bousquet M, Mugneret F, Talmant P, Pages MP, Lefebvre C, Penther D, Lippert E, Nadal N, Taviaux S, Poppe B, Luquet I, Baranger L, Eclache V, Radford I, Barin C, Mozziconacci MJ, Lafage-Pochitaloff M, Antoine-Poirel H, Charrin C, Perot C, Terre C, Brousset P, Dastugue N, Broccardo C.

Blood. 2010 Apr 15;115(15):3089-97. doi: 10.1182/blood-2009-07-234229. Epub 2010 Feb 16.

45.

Vertebral defects as an unusual mode of presentation of 22q11.2 deletion.

Faivre L, Masurel-Paulet A, Callier P, Mejean N, Gay S, Grimaldi M, Mugneret F, Huet F, Thauvin-Robinet C.

Am J Med Genet A. 2009 Dec;149A(12):2865-6. doi: 10.1002/ajmg.a.32974. No abstract available.

PMID:
19921642
46.

Analyses of TET2 mutations in post-myeloproliferative neoplasm acute myeloid leukemias.

Couronné L, Lippert E, Andrieux J, Kosmider O, Radford-Weiss I, Penther D, Dastugue N, Mugneret F, Lafage M, Gachard N, Nadal N, Bernard OA, Nguyen-Khac F.

Leukemia. 2010 Jan;24(1):201-3. doi: 10.1038/leu.2009.169. Epub 2009 Aug 27. No abstract available.

PMID:
19710701
47.

Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20.

Callier P, Faivre L, Pigeonnat S, Quilichini B, Marle N, Thauvin-Robinet C, Mosca AL, Masurel-Paulet A, Rousseau T, Sagot P, Laurent N, Mugneret F.

Prenat Diagn. 2009 Oct;29(10):1002-5. doi: 10.1002/pd.2333. No abstract available.

PMID:
19670346
48.

Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene.

Thauvin-Robinet C, Callier P, Franco B, Zuffardi O, Payet M, Aral B, Gigot N, Donzel A, Mosca-Boidron AL, Masurel-Paulet A, Huet F, Teyssier JR, Mugneret F, Faivre L.

Am J Med Genet A. 2009 Aug;149A(8):1846-9. doi: 10.1002/ajmg.a.32981. No abstract available.

PMID:
19610098
49.

Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH.

Masurel-Paulet A, Callier P, Thauvin-Robinet C, Chouchane M, Mejean N, Marle N, Mosca AL, Ben Salem D, Giroud M, Guibaud L, Huet F, Mugneret F, Faivre L.

Am J Med Genet A. 2009 Jul;149A(7):1504-10. doi: 10.1002/ajmg.a.32904.

PMID:
19533778
50.

Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia.

Callier P, Faivre L, Marle N, Thauvin-Robinet C, Guy J, Mosca AL, D'Athis P, Masurel-Paulet A, Assous D, Teyssier JR, Huet F, Mugneret F.

Am J Med Genet A. 2009 Jun;149A(6):1323-6. doi: 10.1002/ajmg.a.32857. No abstract available.

PMID:
19449416

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