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Items: 1 to 50 of 140

1.

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

Ponson L, Gomot M, Blanc R, Barthelemy C, Roux S, Munnich A, Romana S, Aguillon-Hernandez N, Malan V, Bonnet-Brilhault F.

Transl Psychiatry. 2019 Feb 28;9(1):101. doi: 10.1038/s41398-019-0435-4.

2.

Myeloid cell IRF4 signaling protects neonatal brains from hypoxic ischemic encephalopathy.

Al Mamun A, Yu H, Mirza MA, Romana S, McCullough LD, Liu F.

Neurochem Int. 2019 Jul;127:148-157. doi: 10.1016/j.neuint.2018.12.014. Epub 2018 Dec 23.

PMID:
30586599
3.

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

Mayeur A, Ahdad N, Hesters L, Brisset S, Romana S, Tosca L, Tachdjian G, Frydman N.

Reprod Biomed Online. 2019 Jan;38(1):46-55. doi: 10.1016/j.rbmo.2018.10.003. Epub 2018 Nov 13.

PMID:
30518499
4.

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

Ponson L, Gomot M, Blanc R, Barthelemy C, Roux S, Munnich A, Romana S, Aguillon-Hernandez N, Malan V, Bonnet-Brilhault F.

Transl Psychiatry. 2018 Aug 8;8(1):146. doi: 10.1038/s41398-018-0212-9. Erratum in: Transl Psychiatry. 2019 Feb 28;9(1):101.

5.

Inflammatory Responses are Sex Specific in Chronic Hypoxic-Ischemic Encephalopathy.

Al Mamun A, Yu H, Romana S, Liu F.

Cell Transplant. 2018 Sep;27(9):1328-1339. doi: 10.1177/0963689718766362. Epub 2018 Apr 25.

6.

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

Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Lefebvre M, Thevenon J, Dubourg C, Julia S, Sarret C, Remerand G, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Vigneron J, Leheup B, Lambert L, Philippe C, Béri-Dexheimer M, Cuisset JM, Andrieux J, Plessis G, Toutain A, Guibaud L, Cormier-Daire V, Rio M, Bonnefont JP, Echenne B, Journel H, Burglen L, Chantot-Bastaraud S, Bienvenu T, Baumann C, Perrin L, Drunat S, Jouk PS, Dieterich K, Devillard F, Lacombe D, Philip N, Sigaudy S, Moncla A, Missirian C, Badens C, Perreton N, Thauvin-Robinet C, AChro-Puce R, Pedespan JM, Rooryck C, Goizet C, Vincent-Delorme C, Duban-Bedu B, Bahi-Buisson N, Afenjar A, Maincent K, Héron D, Alessandri JL, Martin-Coignard D, Lesca G, Rossi M, Raynaud M, Callier P, Mosca-Boidron AL, Marle N, Coutton C, Satre V, Caignec CL, Malan V, Romana S, Keren B, Tabet AC, Kremer V, Scheidecker S, Vigouroux A, Lackmy-Port-Lis M, Sanlaville D, Till M, Carneiro M, Gilbert-Dussardier B, Willems M, Van Esch H, Portes VD, El Chehadeh S.

J Med Genet. 2018 Jun;55(6):359-371. doi: 10.1136/jmedgenet-2017-104956. Epub 2018 Apr 4.

PMID:
29618507
7.

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

Reggiani C, Coppens S, Sekhara T, Dimov I, Pichon B, Lufin N, Addor MC, Belligni EF, Digilio MC, Faletra F, Ferrero GB, Gerard M, Isidor B, Joss S, Niel-Bütschi F, Perrone MD, Petit F, Renieri A, Romana S, Topa A, Vermeesch JR, Lenaerts T, Casimir G, Abramowicz M, Bontempi G, Vilain C, Deconinck N, Smits G.

Genome Med. 2017 Jul 19;9(1):67. doi: 10.1186/s13073-017-0452-y.

8.

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

Sarkozy C, Kaltenbach S, Faurie P, Canioni D, Berger F, Traverse-Glehen A, Ghesquieres H, Salles G, Bachy E, Alyanakian MA, Hermine O, Neven B, Macintyre E, Romana S, Molina TJ, Suarez F, Asnafi V, Bruneau J.

Genes Chromosomes Cancer. 2017 Mar;56(3):221-230. doi: 10.1002/gcc.22428. Epub 2016 Nov 1.

PMID:
27750397
9.

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

Kim JH, Shinde DN, Reijnders MRF, Hauser NS, Belmonte RL, Wilson GR, Bosch DGM, Bubulya PA, Shashi V, Petrovski S, Stone JK, Park EY, Veltman JA, Sinnema M, Stumpel CTRM, Draaisma JM, Nicolai J; University of Washington Center for Mendelian Genomics, Yntema HG, Lindstrom K, de Vries BBA, Jewett T, Santoro SL, Vogt J; Deciphering Developmental Disorders Study, Bachman KK, Seeley AH, Krokosky A, Turner C, Rohena L, Hempel M, Kortüm F, Lessel D, Neu A, Strom TM, Wieczorek D, Bramswig N, Laccone FA, Behunova J, Rehder H, Gordon CT, Rio M, Romana S, Tang S, El-Khechen D, Cho MT, McWalter K, Douglas G, Baskin B, Begtrup A, Funari T, Schoch K, Stegmann APA, Stevens SJC, Zhang DE, Traver D, Yao X, MacArthur DG, Brunner HG, Mancini GM, Myers RM, Owen LB, Lim ST, Stachura DL, Vissers LELM, Ahn EYE.

Am J Hum Genet. 2016 Sep 1;99(3):711-719. doi: 10.1016/j.ajhg.2016.06.029. Epub 2016 Aug 18.

10.

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

Malan V, Lapierre JM, Egloff M, Goidin D, Beaujard MP, Maurin ML, Attié-Bitach T, Bessières B, Bernard JP, Roth P, Stirnemann J, Salomon L, Romana S, Vekemans M, Ville Y, Turleau C.

Cytogenet Genome Res. 2015;147(2-3):103-10. doi: 10.1159/000442904. Epub 2016 Jan 7.

PMID:
26735902
11.

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

Romana S, Radford-Weiss I, Lapierre JM, Doye V, Geoffroy MC.

Chromosoma. 2016 Sep;125(4):789-805. doi: 10.1007/s00412-015-0567-0. Epub 2015 Dec 21.

PMID:
26685999
12.

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

Lefebvre M, Sanlaville D, Marle N, Thauvin-Robinet C, Gautier E, Chehadeh SE, Mosca-Boidron AL, Thevenon J, Edery P, Alex-Cordier MP, Till M, Lyonnet S, Cormier-Daire V, Amiel J, Philippe A, Romana S, Malan V, Afenjar A, Marlin S, Chantot-Bastaraud S, Bitoun P, Heron B, Piparas E, Morice-Picard F, Moutton S, Chassaing N, Vigouroux-Castera A, Lespinasse J, Manouvrier-Hanu S, Boute-Benejean O, Vincent-Delorme C, Petit F, Meur NL, Marti-Dramard M, Guerrot AM, Goldenberg A, Redon S, Ferrec C, Odent S, Caignec CL, Mercier S, Gilbert-Dussardier B, Toutain A, Arpin S, Blesson S, Mortemousque I, Schaefer E, Martin D, Philip N, Sigaudy S, Busa T, Missirian C, Giuliano F, Benailly HK, Kien PK, Leheup B, Benneteau C, Lambert L, Caumes R, Kuentz P, François I, Heron D, Keren B, Cretin E, Callier P, Julia S, Faivre L.

Clin Genet. 2016 May;89(5):630-5. doi: 10.1111/cge.12696. Epub 2016 Jan 4.

13.

Increase in the prevalence of anti-cyclic citrullinated peptide antibodies in the serum of 185 patients infected with Human Immunodeficiency Virus.

Méric de Bellefon L, Épée H, Langhendries JP, De Wit S, Corazza F, Di Romana S.

Joint Bone Spine. 2015 Dec;82(6):467-8. doi: 10.1016/j.jbspin.2015.08.014. Epub 2015 Oct 9. No abstract available.

PMID:
26454508
14.

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

Wells C, Spaggiari E, Malan V, Stirnemann JJ, Attie-Bitach T, Ville Y, Vekemans M, Bessieres B, Romana S.

Am J Med Genet A. 2016 Jan;170A(1):239-42. doi: 10.1002/ajmg.a.37411. Epub 2015 Oct 5.

PMID:
26437074
15.

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

Leroy C, Jacquemont ML, Doray B, Lamblin D, Cormier-Daire V, Philippe A, Nusbaum S, Patrat C, Steffann J, Colleaux L, Vekemans M, Romana S, Turleau C, Malan V.

Clin Genet. 2016 Jan;89(1):68-73. doi: 10.1111/cge.12567. Epub 2015 Mar 5.

PMID:
25677961
16.

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

Alberti A, Salomon LJ, Le Lorc'h M, Couloux A, Bussières L, Goupil S, Malan V, Pelletier E, Hyon C, Vialard F, Rozenberg P, Bouhanna P, Oury JF, Schmitz T, Romana S, Weissenbach J, Vekemans M, Ville Y.

Prenat Diagn. 2015 May;35(5):471-6. doi: 10.1002/pd.4561.

PMID:
25643828
17.

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

Nizon M, Andrieux J, Rooryck C, de Blois MC, Bourel-Ponchel E, Bourgois B, Boute O, David A, Delobel B, Duban-Bedu B, Giuliano F, Goldenberg A, Grotto S, Héron D, Karmous-Benailly H, Keren B, Lacombe D, Lapierre JM, Le Caignec C, Le Galloudec E, Le Merrer M, Le Moing AG, Mathieu-Dramard M, Nusbaum S, Pichon O, Pinson L, Raoul O, Rio M, Romana S, Roubertie A, Colleaux L, Turleau C, Vekemans M, Nabbout R, Malan V.

Am J Med Genet A. 2015 Jan;167A(1):111-22. doi: 10.1002/ajmg.a.36807. Epub 2014 Nov 25. Review.

PMID:
25425167
18.

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

El Khattabi L, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, Delezoide AL, Delobel B, Demurger F, Dessuant H, Drunat S, Dubourg C, Dupont C, Faivre L, Holder-Espinasse M, Jaillard S, Journel H, Lyonnet S, Malan V, Masurel A, Marle N, Missirian C, Moerman A, Moncla A, Odent S, Palumbo O, Palumbo P, Ravel A, Romana S, Tabet AC, Valduga M, Vermelle M, Carella M, Dupont JM, Verloes A, Benzacken B, Delahaye A.

Eur J Hum Genet. 2015 Aug;23(8):1010-8. doi: 10.1038/ejhg.2014.230. Epub 2014 Nov 5.

19.

Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection.

Lanternier F, Barbati E, Meinzer U, Liu L, Pedergnana V, Migaud M, Héritier S, Chomton M, Frémond ML, Gonzales E, Galeotti C, Romana S, Jacquemin E, Angoulvant A, Bidault V, Canioni D, Lachenaud J, Mansouri D, Mahdaviani SA, Adimi P, Mansouri N, Jamshidi M, Bougnoux ME, Abel L, Lortholary O, Blanche S, Casanova JL, Picard C, Puel A.

J Infect Dis. 2015 Apr 15;211(8):1241-50. doi: 10.1093/infdis/jiu412. Epub 2014 Jul 23.

20.

New insights into genotype-phenotype correlation for GLI3 mutations.

Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T.

Eur J Hum Genet. 2015 Jan;23(1):92-102. doi: 10.1038/ejhg.2014.62. Epub 2014 Apr 16.

21.

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

Lehalle D, Sanlaville D, Guimier A, Plouvier E, Leblanc T, Galmiche L, Radford I, Romana S, Colleaux L, de Pontual L, Lyonnet S, Amiel J.

Am J Med Genet A. 2014 May;164A(5):1310-7. doi: 10.1002/ajmg.a.36452. Epub 2014 Mar 24. Review.

PMID:
24665034
22.

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

Harrison CJ, Rowley JD, Van den Berghe H, Bernheim A, Martineau M, Gautier M, Le Coniat-Busson M, Romana S, Dastugue N, Hagemeijer A, Jonveaux P, Nguyen-Khac F, Bernard OA.

Leukemia. 2014 Feb;28(2):464-9: discussion 469. doi: 10.1038/leu.2013.340. No abstract available.

PMID:
24496283
23.

Efficacy of plasma-rich growth factor in the healing of postextraction sockets in patients affected by insulin-dependent diabetes mellitus.

Mozzati M, Gallesio G, di Romana S, Bergamasco L, Pol R.

J Oral Maxillofac Surg. 2014 Mar;72(3):456-62. doi: 10.1016/j.joms.2013.10.010. Epub 2013 Oct 30.

PMID:
24342581
24.

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

Soler G, Kaltenbach S, Dobbelstein S, Broccardo C, Radford I, Mozziconacci MJ, Bernard OA, Penard-Lacronique V, Delabesse E, Romana SP.

Blood Cancer J. 2013 Jul 12;3:e124. doi: 10.1038/bcj.2013.20. No abstract available.

25.

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
26.

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

Rio M, Royer G, Gobin S, de Blois MC, Ozilou C, Bernheim A, Nizon M, Munnich A, Bonnefont JP, Romana S, Vekemans M, Turleau C, Malan V.

Clin Genet. 2013 Jul;84(1):31-6. doi: 10.1111/cge.12036. Epub 2012 Nov 4.

PMID:
23061379
27.

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

Le Noir S, Ben Abdelali R, Lelorch M, Bergeron J, Sungalee S, Payet-Bornet D, Villarèse P, Petit A, Callens C, Lhermitte L, Baranger L, Radford-Weiss I, Grégoire MJ, Dombret H, Ifrah N, Spicuglia S, Romana S, Soulier J, Nadel B, Macintyre E, Asnafi V.

Blood. 2012 Oct 18;120(16):3298-309. doi: 10.1182/blood-2012-04-425488. Epub 2012 Sep 4.

28.

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

Frydman R, Achour-Frydman N, Steffann J, Lamazou F, Fanchin R, Burlet P, Gigarel N, Romana S, Bonnefont JP, Le Lorch M, Kerbrat V, Hesters L, Munnich A, Vekemans M.

Bull Acad Natl Med. 2011 Apr-May;195(4-5):1005-13; discussion 1013-4. French.

PMID:
22375366
29.

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

Malan V, Romana S.

Arch Pediatr. 2012 Apr;19(4):437-42. doi: 10.1016/j.arcped.2012.01.004. Epub 2012 Feb 17. Review. French.

PMID:
22342099
30.

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

Malamut G, Verkarre V, Callens C, Colussi O, Rahmi G, MacIntyre E, Haïoun C, Meresse B, Brousse N, Romana S, Hermine O, Cerf-Bensussan N, Cellier C.

Gastroenterology. 2012 Apr;142(4):726-729.e3; quiz e13-4. doi: 10.1053/j.gastro.2011.12.040. Epub 2012 Jan 4.

PMID:
22226659
31.

Functional analysis of the NUP98-CCDC28A fusion protein.

Petit A, Ragu C, Soler G, Ottolenghi C, Schluth C, Radford-Weiss I, Schneider-Maunoury S, Callebaut I, Dastugue N, Drabkin HA, Bernard OA, Romana S, Penard-Lacronique V.

Haematologica. 2012 Mar;97(3):379-87. doi: 10.3324/haematol.2011.047969. Epub 2011 Nov 4.

32.

[Preimplantation diagnosis with HLA typing: birth of the first double hope child in France].

Lamazou F, Steffann J, Frydman N, Burlet P, Gigarel N, Romana S, Bonnefont JP, Lelorch M, Hesters L, Fanchin R, Kerbrat V, Vekemans M, Munnich A, Frydman R.

J Gynecol Obstet Biol Reprod (Paris). 2011 Nov;40(7):682-6. doi: 10.1016/j.jgyn.2011.08.007. Epub 2011 Sep 22. French.

33.

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

Hauer J, Mullighan C, Morillon E, Wang G, Bruneau J, Brousse N, Lelorc'h M, Romana S, Boudil A, Tiedau D, Kracker S, Bushmann FD, Borkhardt A, Fischer A, Hacein-Bey-Abina S, Cavazzana-Calvo M.

Blood. 2011 Jul 21;118(3):544-53. doi: 10.1182/blood-2010-09-305383. Epub 2011 May 26.

34.

Characterization of sSMC by FISH and molecular techniques.

Sheth F, Andrieux J, Ewers E, Kosyakova N, Weise A, Sheth H, Romana SP, LeLorc'h M, Delobel B, Theisen O, Liehr T, Nampoothiri S, Sheth J.

Eur J Med Genet. 2011 May-Jun;54(3):247-55. doi: 10.1016/j.ejmg.2011.01.011. Epub 2011 Mar 3.

PMID:
21316495
35.

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

Magerus-Chatinet A, Neven B, Stolzenberg MC, Daussy C, Arkwright PD, Lanzarotti N, Schaffner C, Cluet-Dennetiere S, Haerynck F, Michel G, Bole-Feysot C, Zarhrate M, Radford-Weiss I, Romana SP, Picard C, Fischer A, Rieux-Laucat F.

J Clin Invest. 2011 Jan;121(1):106-12. doi: 10.1172/JCI43752. Epub 2010 Dec 22.

36.

NUP98-MLL fusion in human acute myeloblastic leukemia.

Kaltenbach S, Soler G, Barin C, Gervais C, Bernard OA, Penard-Lacronique V, Romana SP.

Blood. 2010 Sep 30;116(13):2332-5. doi: 10.1182/blood-2010-04-277806. Epub 2010 Jun 17.

37.

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

Chaabouni M, Etchevers H, De Blois MC, Calvas P, Waill-Perrier MC, Vekemans M, Romana SP.

Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4380-6. doi: 10.1167/iovs.09-4111. Epub 2010 Feb 17.

PMID:
20164457
38.

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

Ferlicot S, Vernochet A, Romana S, Ortin-Serrano M, Letierce A, Brégerie O, Durrbach A, Guettier C.

Histopathology. 2010 Jan;56(2):188-97. doi: 10.1111/j.1365-2559.2009.03466.x.

PMID:
20102397
39.

NUP98-HMGB3: a novel oncogenic fusion.

Petit A, Ragu C, Della-Valle V, Mozziconacci MJ, Lafage-Pochitaloff M, Soler G, Schluth C, Radford I, Ottolenghi C, Bernard OA, Penard-Lacronique V, Romana SP.

Leukemia. 2010 Mar;24(3):654-8. doi: 10.1038/leu.2009.241. Epub 2009 Dec 3. No abstract available.

PMID:
19956199
40.

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

Malan V, Chevallier S, Soler G, Coubes C, Lacombe D, Pasquier L, Soulier J, Morichon-Delvallez N, Turleau C, Munnich A, Romana S, Vekemans M, Cormier-Daire V, Colleaux L.

Eur J Hum Genet. 2010 Feb;18(2):227-32. doi: 10.1038/ejhg.2009.162. Epub 2009 Oct 21.

41.

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

Nguyen-Khac F, Barin C, Chapiro E, Macintyre EA, Romana S, Bernard OA.

Leuk Res. 2010 Jan;34(1):e13-4. doi: 10.1016/j.leukres.2009.07.016. Epub 2009 Aug 8. No abstract available.

PMID:
19665788
42.

Mutation in TET2 in myeloid cancers.

Delhommeau F, Dupont S, Della Valle V, James C, Trannoy S, Massé A, Kosmider O, Le Couedic JP, Robert F, Alberdi A, Lécluse Y, Plo I, Dreyfus FJ, Marzac C, Casadevall N, Lacombe C, Romana SP, Dessen P, Soulier J, Viguié F, Fontenay M, Vainchenker W, Bernard OA.

N Engl J Med. 2009 May 28;360(22):2289-301. doi: 10.1056/NEJMoa0810069.

43.

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

Soler G, Nusbaum S, Varet B, Macintyre EA, Vekemans M, Romana SP, Radford-Weiss I.

Leukemia. 2009 Jul;23(7):1359-61. doi: 10.1038/leu.2009.79. Epub 2009 Apr 16. No abstract available.

PMID:
19369959
44.

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

Carré A, Szinnai G, Castanet M, Sura-Trueba S, Tron E, Broutin-L'Hermite I, Barat P, Goizet C, Lacombe D, Moutard ML, Raybaud C, Raynaud-Ravni C, Romana S, Ythier H, Léger J, Polak M.

Hum Mol Genet. 2009 Jun 15;18(12):2266-76. doi: 10.1093/hmg/ddp162. Epub 2009 Mar 31.

PMID:
19336474
45.

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

Maurin ML, Labrune P, Brisset S, Le Lorc'h M, Pineau D, Castel C, Romana S, Tachdjian G.

Am J Med Genet A. 2009 Feb;149A(2):226-31. doi: 10.1002/ajmg.a.32603. Review.

PMID:
19161154
46.

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

Damaj L, le Lorch M, Verkarre V, Werl C, Hubert L, Nihoul-Fékété C, Aigrain Y, de Keyzer Y, Romana SP, Bellanne-Chantelot C, de Lonlay P, Jaubert F.

J Clin Endocrinol Metab. 2008 Dec;93(12):4941-7. doi: 10.1210/jc.2008-0673. Epub 2008 Sep 16.

PMID:
18796520
47.

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

Schluth-Bolard C, Till M, Rafat A, Labalme A, Le Lorc'h M, Banquart E, Angei C, Cordier MP, Romana SP, Edery P, Sanlaville D.

Eur J Med Genet. 2008 Nov-Dec;51(6):622-30. doi: 10.1016/j.ejmg.2008.06.009. Epub 2008 Jul 12.

PMID:
18674648
48.

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

Benjelloun F, Garrigue A, Demerens-de Chappedelaine C, Soulas-Sprauel P, Malassis-Séris M, Stockholm D, Hauer J, Blondeau J, Rivière J, Lim A, Le Lorc'h M, Romana S, Brousse N, Pâques F, Galy A, Charneau P, Fischer A, de Villartay JP, Cavazzana-Calvo M.

Mol Ther. 2008 Aug;16(8):1490-9. doi: 10.1038/mt.2008.118. Epub 2008 Jun 17.

49.

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

Soler G, Radford I, Meyer C, Marschalek R, Brouzes C, Ghez D, Romana S, Berger R.

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PMID:
18474298
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PMID:
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