312 related articles for article (PubMed ID: 26345236)
1. 1p36 deletion syndrome: an update.
Jordan VK; Zaveri HP; Scott DA
Appl Clin Genet; 2015; 8():189-200. PubMed ID: 26345236
[TBL] [Abstract][Full Text] [Related]
2. Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.
Zaveri HP; Beck TF; Hernández-García A; Shelly KE; Montgomery T; van Haeringen A; Anderlid BM; Patel C; Goel H; Houge G; Morrow BE; Cheung SW; Lalani SR; Scott DA
PLoS One; 2014; 9(1):e85600. PubMed ID: 24454898
[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. 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]
5. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
Fregeau B; Kim BJ; Hernández-García A; Jordan VK; Cho MT; Schnur RE; Monaghan KG; Juusola J; Rosenfeld JA; Bhoj E; Zackai EH; Sacharow S; Barañano K; Bosch DGM; de Vries BBA; Lindstrom K; Schroeder A; James P; Kulch P; Lalani SR; van Haelst MM; van Gassen KLI; van Binsbergen E; Barkovich AJ; Scott DA; Sherr EH
Am J Hum Genet; 2016 May; 98(5):963-970. PubMed ID: 27087320
[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. 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]
8. An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.
Kim BJ; Zaveri HP; Shchelochkov OA; Yu Z; Hernández-García A; Seymour ML; Oghalai JS; Pereira FA; Stockton DW; Justice MJ; Lee B; Scott DA
PLoS One; 2013; 8(2):e57460. PubMed ID: 23451234
[TBL] [Abstract][Full Text] [Related]
9. Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice.
Colmenares C; Heilstedt HA; Shaffer LG; Schwartz S; Berk M; Murray JC; Stavnezer E
Nat Genet; 2002 Jan; 30(1):106-9. PubMed ID: 11731796
[TBL] [Abstract][Full Text] [Related]
10. Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2.
Miranda-Fernández MC; Ramírez-Oyaga S; Restrepo CM; Huertas-Quiñones VM; Barrera-Castañeda M; Quero R; Hernández-Toro CJ; Tamar Silva C; Laissue P; Cabrera R
Mol Syndromol; 2018 May; 9(3):164-169. PubMed ID: 29928183
[TBL] [Abstract][Full Text] [Related]
11. Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review.
Yokoyama E; Villarroel CE; Diaz S; Del Castillo V; Pérez-Vera P; Salas C; Gómez S; Barreda R; Molina B; Frias S
Mol Cytogenet; 2020; 13():42. PubMed ID: 32939224
[TBL] [Abstract][Full Text] [Related]
12. Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy.
Bursztejn AC; Bronner M; Peudenier S; Grégoire MJ; Jonveaux P; Nemos C
Am J Med Genet A; 2009 Nov; 149A(11):2493-500. PubMed ID: 19842196
[TBL] [Abstract][Full Text] [Related]
13. Deletion in 1p36.33-p36.32 is associated with pancytopenia: a case report.
Yang H; Huang J; Zheng H; Zhang Y; Zhang Y; Liu W; Wu J; Chen X; Lin J; Ni Y; Nie X
BMC Med Genomics; 2023 Nov; 16(1):282. PubMed ID: 37946214
[TBL] [Abstract][Full Text] [Related]
14. Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report.
Fitzgibbon GJ; Clayton-Smith J; Banka S; Hamilton SJ; Needham MM; Dore JK; Miller JT; Pawson GD; Gaunt L
J Med Case Rep; 2008 Nov; 2():355. PubMed ID: 19019217
[TBL] [Abstract][Full Text] [Related]
15. Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions.
Ballif BC; Yu W; Shaw CA; Kashork CD; Shaffer LG
Hum Mol Genet; 2003 Sep; 12(17):2153-65. PubMed ID: 12915474
[TBL] [Abstract][Full Text] [Related]
16. Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome.
Kurosawa K; Kawame H; Okamoto N; Ochiai Y; Akatsuka A; Kobayashi M; Shimohira M; Mizuno S; Wada K; Fukushima Y; Kawawaki H; Yamamoto T; Masuno M; Imaizumi K; Kuroki Y
Brain Dev; 2005 Aug; 27(5):378-82. PubMed ID: 16023556
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.
Kang SH; Scheffer A; Ou Z; Li J; Scaglia F; Belmont J; Lalani SR; Roeder E; Enciso V; Braddock S; Buchholz J; Vacha S; Chinault AC; Cheung SW; Bacino CA
Clin Genet; 2007 Oct; 72(4):329-38. PubMed ID: 17850629
[TBL] [Abstract][Full Text] [Related]
19. 1p36 deletion syndrome confirmed by fluorescence
Kang DS; Shin E; Yu J
Korean J Pediatr; 2016 Nov; 59(Suppl 1):S14-S18. PubMed ID: 28018437
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]