共 50 条
- [31] Behavioral phenotype related to CNV in 2q13: report of one patient affected by duplication and a patient carrying a deletionEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 962 - 962Vismara, M.Scionti, F.Pensabene, L.Roppa, K.Romano, G.Ceravolo, M.Concolino, D.
- [32] A new case involving 2q13 microduplication associated with autism spectrum disorder, intellectual disability and dysmorphic featuresEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 959 - 959Focsa, I. O.Streata, I.Sosoi, S.Ioana, M.Grozavescu, R.Budisteanu, M.
- [33] Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational durationNATURE COMMUNICATIONS, 2019, 10 (1)Liu, XuepingHelenius, DorteSkotte, LineBeaumont, Robin N.Wielscher, MatthiasGeller, FrankJuodakis, JuliusMahajan, AnubhaBradfield, Jonathan P.Lin, Frederick TjVogelezang, SuzanneBustamante, MarionaAhluwalia, Tarunveer S.Pitkanen, NiinaWang, Carol A.Bacelis, JonasBorges, Maria C.Zhang, GeBedell, Bruce A.Rossi, Robert M.Skogstrand, KristinPeng, ShounengThompson, Wesley K.Appadurai, VivekLawlor, Debbie A.Kalliala, IlkkaPower, ChristineMcCarthy, Mark, IBoyd, Heather A.Marazita, Mary L.Hakonarson, HakonHayes, M. GeoffreyScholtens, Denise M.Rivadeneira, FernandoJaddoe, Vincent W. V.Vinding, Rebecca K.Bisgaard, HansKnight, Bridget A.Pahkala, KatjaRaitakari, OlliHelgeland, OyvindJohansson, StefanNjolstad, Pal R.Fadista, JoaoSchork, Andrew J.Nudel, RonMiller, Daniel E.Chen, XiaotingWeirauch, Matthew T.Mortensen, Preben Bo
- [34] Association of a genetic polymorphism in the interleukin-1 gene cluster of chromosome 2 (2q13) with coronary artery disease on angiographyJOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2000, 35 (02) : 296A - 297ABerger, PBNunn, MStephenson, KSorrell, JDi Giovine, FDuff, GW
- [35] THE ORIGIN OF HUMAN CHROMOSOME-2 - AN ANCESTRAL TELOMERE-TELOMERE FUSION THAT MAPS CLOSE TO THE FRAGILE SITE AT 2Q13AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 381 - 381IJDO, IWWELLS, RAWBALDINI, AREEDERS, ST
- [36] Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone densityANNALS OF THE RHEUMATIC DISEASES, 2018, 77 (03) : 378 - 385Alonso, NereaEstrada, KarolAlbagha, Omar M. E.Herrera, LizbethReppe, SjurOlstad, Ole K.Gautvik, Kaare M.Ryan, Niamh M.Evans, Kathryn L.Nielson, Carrie M.Hsu, Yi-HsiangKiel, Douglas P.Markozannes, GeorgeNtzani, Evangelia E.Evangelou, EvangelosFeenstra, BjarkeLiu, XuepingMelbye, MadsMasi, LauraBrandi, Maria LuisaRiches, PhilipDaroszewska, AnnaOlmos, Jose ManuelValero, CarmenCastillo, JesusRiancho, Jose A.Husted, Lise B.Langdahl, Bente L.Brown, Matthew A.Duncan, Emma L.Kaptoge, StephenKhaw, Kay-TeeUsategui-Martin, RicardoDel Pino-Montes, JavierGonzalez-Sarmiento, RogelioLewis, Joshua R.Prince, Richard L.D'Amelio, PatriziaGarcia-Giralt, NataliaNogues, XavierMencej-Bedrac, SimonaMarc, JanjaWolstein, OritEisman, John A.Oei, LingMedina-Gomez, CarolinaSchraut, Katharina E.Navarro, PauWilson, James F.Davies, Gail
- [37] Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational durationNature Communications, 10Xueping LiuDorte HeleniusLine SkotteRobin N. BeaumontMatthias WielscherFrank GellerJulius JuodakisAnubha MahajanJonathan P. BradfieldFrederick T. J. LinSuzanne VogelezangMariona BustamanteTarunveer S. AhluwaliaNiina PitkänenCarol A. WangJonas BacelisMaria C. BorgesGe ZhangBruce A. BedellRobert M. RossiKristin SkogstrandShouneng PengWesley K. ThompsonVivek AppaduraiDebbie A. LawlorIlkka KallialaChristine PowerMark I. McCarthyHeather A. BoydMary L. MarazitaHakon HakonarsonM. Geoffrey HayesDenise M. ScholtensFernando RivadeneiraVincent W. V. JaddoeRebecca K. VindingHans BisgaardBridget A. KnightKatja PahkalaOlli RaitakariØyvind HelgelandStefan JohanssonPål R. NjølstadJoão FadistaAndrew J. SchorkRon NudelDaniel E. MillerXiaoting ChenMatthew T. WeirauchPreben Bo Mortensen
- [39] CHARACTERISATION OF RARE PATHOGENIC CNVS AT 2Q13 AND 4P16.3 IN INTELLECTUAL DISABILITIES AND COMORBID PSYCHIATRIC DISORDERSJOURNAL OF INTELLECTUAL DISABILITY RESEARCH, 2016, 60 (09) : 843 - 843Wolfe, K. A.Strydom, A.Mcquillin, A.Bass, N.
- [40] Generation of an integrated YAC, PAC and transcriptional map in the region for juvenile nephronophthisis (NPH1) on chromosome 2q13CYTOGENETICS AND CELL GENETICS, 1996, 73 (04): : 9 - 9Hildebrandt, FStrahm, BSchwabe, JMatthias, JGingrich, JNothwang, HG