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2. 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; 37(5):515-26. PubMed ID: 25172301 [TBL] [Abstract][Full Text] [Related]
3. Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review. Greco M; Ferrara P; Farello G; Striano P; Verrotti A Epilepsy Res; 2018 Jan; 139():92-101. PubMed ID: 29212048 [TBL] [Abstract][Full Text] [Related]
4. Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities. Õiglane-Shlik E; Puusepp S; Talvik I; Vaher U; Rein R; Tammur P; Reimand T; Teek R; Žilina O; Tomberg T; Õunap K Eur J Paediatr Neurol; 2014 May; 18(3):338-46. PubMed ID: 24529875 [TBL] [Abstract][Full Text] [Related]
5. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Heilstedt HA; Ballif BC; Howard LA; Lewis RA; Stal S; Kashork CD; Bacino CA; Shapira SK; Shaffer LG Am J Hum Genet; 2003 May; 72(5):1200-12. PubMed ID: 12687501 [TBL] [Abstract][Full Text] [Related]
6. 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; 152A(8):1951-9. PubMed ID: 20635359 [TBL] [Abstract][Full Text] [Related]
7. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Battaglia A; Hoyme HE; Dallapiccola B; Zackai E; Hudgins L; McDonald-McGinn D; Bahi-Buisson N; Romano C; Williams CA; Brailey LL; Zuberi SM; Carey JC Pediatrics; 2008 Feb; 121(2):404-10. PubMed ID: 18245432 [TBL] [Abstract][Full Text] [Related]
8. 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; 108(3):502-516. PubMed ID: 33596411 [TBL] [Abstract][Full Text] [Related]
9. Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems. D'Angelo CS; Da Paz JA; Kim CA; Bertola DR; Castro CI; Varela MC; Koiffmann CP Eur J Med Genet; 2006; 49(6):451-60. PubMed ID: 16564757 [TBL] [Abstract][Full Text] [Related]
11. Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality. Nicoulaz A; Rubi F; Lieder L; Wolf R; Goeggel-Simonetti B; Steinlin M; Wiest R; Bonel HM; Schaller A; Gallati S; Conrad B Am J Med Genet A; 2011 Aug; 155A(8):1964-8. PubMed ID: 21739569 [TBL] [Abstract][Full Text] [Related]
12. Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Shapira SK; McCaskill C; Northrup H; Spikes AS; Elder FF; Sutton VR; Korenberg JR; Greenberg F; Shaffer LG Am J Hum Genet; 1997 Sep; 61(3):642-50. PubMed ID: 9326330 [TBL] [Abstract][Full Text] [Related]
13. Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome? Redon R; Rio M; Gregory SG; Cooper RA; Fiegler H; Sanlaville D; Banerjee R; Scott C; Carr P; Langford C; Cormier-Daire V; Munnich A; Carter NP; Colleaux L J Med Genet; 2005 Feb; 42(2):166-71. PubMed ID: 15689456 [No Abstract] [Full Text] [Related]
14. Monosomy 1p36 deletion syndrome. Gajecka M; Mackay KL; Shaffer LG Am J Med Genet C Semin Med Genet; 2007 Nov; 145C(4):346-56. PubMed ID: 17918734 [TBL] [Abstract][Full Text] [Related]
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17. Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia. Descartes M; Mikhail FM; Franklin JC; McGrath TM; Bebin M Pediatr Neurol; 2011 Oct; 45(4):274-8. PubMed ID: 21907895 [TBL] [Abstract][Full Text] [Related]
18. Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype. Giannikou K; Fryssira H; Oikonomakis V; Syrmou A; Kosma K; Tzetis M; Kitsiou-Tzeli S; Kanavakis E Gene; 2012 Sep; 506(2):360-8. PubMed ID: 22766398 [TBL] [Abstract][Full Text] [Related]
20. Delineating the phenotype of 1p36 deletion in adolescents and adults. Brazil A; Stanford K; Smolarek T; Hopkin R Am J Med Genet A; 2014 Oct; 164A(10):2496-503. PubMed ID: 25044719 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]