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Items: 1 to 20 of 162

1.

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

Uguen K, Jubin C, Duffourd Y, Bardel C, Malan V, Dupont JM, El Khattabi L, Chatron N, Vitobello A, Rollat-Farnier PA, Baulard C, Lelorch M, Leduc A, Tisserant E, Tran Mau-Them F, Danjean V, Delepine M, Till M, Meyer V, Lyonnet S, Mosca-Boidron AL, Thevenon J, Faivre L, Thauvin-Robinet C, Schluth-Bolard C, Boland A, Olaso R, Callier P, Romana S, Deleuze JF, Sanlaville D.

Mol Genet Genomic Med. 2020 Mar;8(3):e1114. doi: 10.1002/mgg3.1114. Epub 2020 Jan 27.

2.

Glycosylation deficiency of lipopolysaccharide-binding protein and corticosteroid-binding globulin associated with activity and response to treatment for rheumatoid arthritis.

Ciregia F, Baiwir D, Cobraiville G, Dewael T, Mazzucchelli G, Badot V, Di Romana S, Sidiras P, Sokolova T, Durez P, Malaise MG, de Seny D.

J Transl Med. 2020 Jan 6;18(1):8. doi: 10.1186/s12967-019-02188-9.

3.

Comment on: Monogenic mimics of Behçet's disease in the young.

Aeschlimann FA, Stolzenberg MC, Rieux-Laucat F, Bustaffa M, Quartier P, Lyonnet S, Romana S, Bader-Meunier B.

Rheumatology (Oxford). 2019 Nov 14. pii: kez543. doi: 10.1093/rheumatology/kez543. [Epub ahead of print] No abstract available.

PMID:
31725163
4.

Trypanosoma cruzi infection associated with atypical clinical manifestation during the acute phase of the Chagas disease.

Rangel-Gamboa L, López-García L, Moreno-Sánchez F, Hoyo-Ulloa I, Vega-Mémije ME, Mendoza-Bazán N, Romero-Valdovinos M, Olivo-Díaz A, Villalobos G, Martínez-Hernández F.

Parasit Vectors. 2019 Oct 30;12(1):506. doi: 10.1186/s13071-019-3766-3.

5.

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.

6.

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
7.

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
8.

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.

9.

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.

10.

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
11.

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.

12.

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
13.

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.

14.

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
15.

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
16.

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.

17.

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
18.

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
19.

Update on oral Chagas disease outbreaks in Venezuela: epidemiological, clinical and diagnostic approaches.

Noya BA, Díaz-Bello Z, Colmenares C, Ruiz-Guevara R, Mauriello L, Muñoz-Calderón A, Noya O.

Mem Inst Oswaldo Cruz. 2015 May;110(3):377-86. doi: 10.1590/0074-02760140285. Epub 2015 Apr 28. Review.

20.

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

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