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Journal Abstract Search

228 related items for PubMed ID: 32170730

  • 1. A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis.
    Aagaard Nolting L, Brasch-Andersen C, Cox H, Kanani F, Parker M, Fry AE, Loddo S, Novelli A, Dentici ML, Joss S, Jørgensen JP, Fagerberg CR.
    Clin Genet; 2020 Jun; 97(6):927-932. PubMed ID: 32170730
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  • 2. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
    Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM, Faivre L, Banka S, Wang T, Eichler EE, Priolo M, Dallapiccola B, Vissers LELM, Sadikovic B, Scott DA, Holder JL, Tartaglia M.
    Am J Hum Genet; 2021 Mar 04; 108(3):502-516. PubMed ID: 33596411
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  • 4. Cutis laxa in a patient with 1p36 deletion syndrome.
    Zhang Z, Wang J, Li N, Yao R, Chen J.
    J Dermatol; 2018 Jul 04; 45(7):871-873. PubMed ID: 29611295
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  • 9. 13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay.
    Privitera F, Calonaci A, Doddato G, Papa FT, Baldassarri M, Pinto AM, Mari F, Longo I, Caini M, Galimberti D, Hadjistilianou T, De Francesco S, Renieri A, Ariani F.
    Genes (Basel); 2021 Aug 26; 12(9):. PubMed ID: 34573300
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  • 10. Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.
    Tsang E, Rupps R, McGillivray B, Eydoux P, Marra M, Arbour L, Langlois S, Friedman JM, Zahir FR.
    Am J Med Genet A; 2012 Oct 26; 158A(10):2606-9. PubMed ID: 22903878
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  • 11. Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions.
    Rosenfeld JA, Crolla JA, Tomkins S, Bader P, Morrow B, Gorski J, Troxell R, Forster-Gibson C, Cilliers D, Hislop RG, Lamb A, Torchia B, Ballif BC, Shaffer LG.
    Am J Med Genet A; 2010 Aug 26; 152A(8):1951-9. PubMed ID: 20635359
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  • 15. Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications.
    Shimada S, Shimojima K, Okamoto N, Sangu N, Hirasawa K, Matsuo M, Ikeuchi M, Shimakawa S, Shimizu K, Mizuno S, Kubota M, Adachi M, Saito Y, Tomiwa K, Haginoya K, Numabe H, Kako Y, Hayashi A, Sakamoto H, Hiraki Y, Minami K, Takemoto K, Watanabe K, Miura K, Chiyonobu T, Kumada T, Imai K, Maegaki Y, Nagata S, Kosaki K, Izumi T, Nagai T, Yamamoto T.
    Brain Dev; 2015 May 26; 37(5):515-26. PubMed ID: 25172301
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  • 17. Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14.
    Menten B, Buysse K, Zahir F, Hellemans J, Hamilton SJ, Costa T, Fagerstrom C, Anadiotis G, Kingsbury D, McGillivray BC, Marra MA, Friedman JM, Speleman F, Mortier G.
    J Med Genet; 2007 Apr 26; 44(4):264-8. PubMed ID: 17220210
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  • 19. Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.
    Palumbo P, Accadia M, Leone MP, Palladino T, Stallone R, Carella M, Palumbo O.
    Am J Med Genet A; 2018 Feb 26; 176(2):391-398. PubMed ID: 29193617
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  • 20. Czech family confirms the new 1p36.13-1p36.12 microdeletion syndrome.
    Seeman P, Čejnová V, Černá Š, Rennerová L, Trková M, Kofer J, Laštůvková J.
    Clin Genet; 2022 Sep 26; 102(3):244-245. PubMed ID: 35726688
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