| 1 | DEL1P36
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| Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype.
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| Giannikou K, Fryssira H, Oikonomakis V, Syrmou A, Kosma K, Tzetis M, Kitsiou-Tzeli S, Kanavakis E.
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| Gene 506(2):360-8. doi: 10.1016/j.gene.2012.06.060. Epub 2012 Jul 2.
2012
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| 2 | DEL1P36, DEL1P36P
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| Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality.
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| Nicoulaz A, Rubi F, Lieder L, Wolf R, Goeggel-Simonetti B, Steinlin M, Wiest R, Bonel HM, Schaller A, Gallati S, Conrad B.
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| Am J Med Genet A 155A(8):1964-8. doi: 10.1002/ajmg.a.33210. Epub 2011 Jul 7.
2011
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| 3 | DEL1P36, DEL8P23
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| Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1.
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| Digilio MC, Bernardini L, Lepri F, Giuffrida MG, Guida V, Baban A, Versacci P, Capolino R, Torres B, De Luca A, Novelli A, Marino B, Dallapiccola B.
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| Am J Med Genet A 155(9):2196-202. doi: 10.1002/ajmg.a.34131. Epub 2011 Aug 3.
2011
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| 4 | DEL1P36
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| Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia.
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| D'Angelo CS, Kohl I, Varela MC, de Castro CI, Kim CA, Bertola DR, Lourenço CM, Koiffmann CP.
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| Am J Med Genet A 152A(1):102-10.
2010
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| 5 | DEL1P36
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| Left ventricular noncompaction: a rare disorder in adults and its association with 1p36 chromosomal anomaly.
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| Dod HS, Bhardwaj R, Hummel M, Morise AP, Batish S, Warden BE, Beto RJ, Jain AC.
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| Am J Med Genet A 152A(1):191-5.
2010
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| 6 | DEL1P36
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| Congenital nasal piriform aperture stenosis as a rare manifestation of monosomy 1p36.
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| Breckpot J, Hermans R, Poorten VV, Vermeesch JR, Devriendt K.
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| Clin Dysmorphol 19(2):95-7. No abstract available. PMID: 20186048 2010
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| 7 | DEL1P36, DEL2Q23, DEL2Q37, SMS
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| Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.
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| Williams SR, Girirajan S, Tegay D, Nowak N, Hatchwell E, Elsea SH.
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| J Med Genet 47(4):223-9. Epub 2009 Sep 14.PMID: 19752160 2010
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| 8 | DEL1P36, GABRD, PRKCZ, SKI
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| Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions.
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| 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.
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| Am J Med Genet A 152A(8):1951-9.PMID: 20635359 2010
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| 9 | DEL1P36
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| Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints.
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| Gajecka M, Saitta SC, Gentles AJ, Campbell L, Ciprero K, Geiger E, Catherwood A, Rosenfeld JA, Shaikh T, Shaffer LG.
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| Am J Med Genet A 152A(12):3074-83.PMID: 21108392 2010
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| 10 | DEL1P36
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| Distal monosomy 1p36: an atypical case with duodenal atresia and a small interstitial deletion.
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| Rankin J, Allwood A, Canham N, Delmege C, Crolla J, Maloney V.
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| Clin Dysmorphol 18(4):222-4. No abstract available.
2009
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| 11 | DEL1P36
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| Young-Simpson syndrome (YSS), a variant of del(1)(p36) syndrome?
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| Robinson DM, Meagher CC, Orlowski CC, Lagoe EC, Fong CT.
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| Am J Med Genet A 146A(12):1571-4. 2008
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| 12 | DEL1P36
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| Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
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| 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.
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| Pediatrics 121(2):404-10. Erratum in: Pediatrics. 2008 May;121(5):1081. Braley, Lisa L [corrected to Brailey, Lisa L]. 2008
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| 13 | DEL1P36, DEL21QT, DEL4Q, DEL6QD, DUP2PD, EOMES, GOSHS, KIFBP, MPAC, RAB3GAP1, WARBM1
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| Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
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| Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG.
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| Am J Med Genet A 146A(13):1637-54. 2008
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| 14 | DEL1P36, LVNC
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| Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36.
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| Saito S, Kawamura R, Kosho T, Shimizu T, Aoyama K, Koike K, Wada T, Matsumoto N, Kato M, Wakui K, Fukushima Y.
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| Am J Med Genet A 146A(22):2891-2897. [Epub ahead of print] 2008
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| 15 | DEL1P36, LVNC
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| Left-ventricular non-compaction (LVNC): A clinical feature more often observed in terminal deletion 1p36 than previously expected.
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| Cremer K, Lüdecke HJ, Ruhr F, Wieczorek D.
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| Eur J Med Genet ur J Med Genet. 2008 Jul 31. [Epub ahead of print] 2008
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| 16 | DEL1P36, DUP22Q13
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| Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13).
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| Gajecka M, Saadeh R, Mackay KL, Glotzbach CD, Spodar K, Chitayat D, Shaffer LG.
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| Am J Med Genet A 146A(21):2777-84.
2008
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| 17 | DEL1P36
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| Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature.
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| Campeau PM, Ah Mew N, Cartier L, Mackay KL, Shaffer LG, Der Kaloustian VM, Thomas MA.
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| Am J Med Genet A 146A(23):3062-9. Review.
2008
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| 18 | DEL1P36
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| Spectrum of epilepsy in terminal 1p36 deletion syndrome.
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| Bahi-Buisson N, Guttierrez-Delicado E, Soufflet C, Rio M, Daire VC, Lacombe D, Héron D, Verloes A, Zuberi S, Burglen L, Afenjar A, Moutard ML, Edery P, Novelli A, Bernardini L, Dulac O, Nabbout R, Plouin P, Battaglia A.
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| Epilepsia 49(3):509-15. Epub 2007 Nov 21.PMID: 18031548 2008
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| 19 | DEL1P36
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| Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
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| 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.
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| Pediatrics 121(2):404-10. Erratum in: Pediatrics. 2008 May;121(5):1081. Braley, Lisa L [corrected to Brailey, Lisa L].
2008
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| 20 | DUP5Q35, DUP7Q11, DEL1P36
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| MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.
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| Kirchhoff M, Bisgaard AM, Bryndorf T, Gerdes T.
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| Eur J Med Genet 50(1):33-42. Epub 2006 Oct 10. 2007
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| 21 | DEL1P36, DUP5Q35, DUP7Q11
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| MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8 percent of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.
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| Kirchhoff M, Bisgaard AM, Bryndorf T, Gerdes T.
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| Eur J Med Genet 50(1):33-42. Epub 2006 Oct 10. 2007
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| 22 | DEL1P36
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| Monosomy 1p36 deletion syndrome.
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| Gajecka M, Mackay KL, Shaffer LG.
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| Am J Med Genet C Semin Med Genet 145(4):346-56. 2007
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| 23 | DEL1P36P, DEL1P36
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| Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.
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| 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.
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| Clin Genet 72(4):329-38. 2007
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| 24 | DEL1P36, LVNC
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| Left-ventricular non-compaction in a patient with monosomy 1p36.
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| Thienpont B, Mertens L, Buyse G, Vermeesch JR, Devriendt K.
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| Eur J Med Genet 50(3):233-6. Epub 2007 Jan 27. 2007
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| 25 | DEL1P36, DUP1P36
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| Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1).
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| Hiraki Y, Fujita H, Yamamori S, Ohashi H, Eguchi M, Harada N, Mizuguchi T, Matsumoto N.
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| Am J Med Genet A 140(16):1773-7. 2006
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| 26 | MMP23A, MMP23B, DEL1P36, DUP1P36
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| Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure.
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| Gajecka M, Yu W, Ballif BC, Glotzbach CD, Bailey KA, Shaw CA, Kashork CD, Heilstedt HA, Ansel DA, Theisen A, Rice R, Rice DP, Shaffer LG.
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| Eur J Hum Genet 13(2):139-49. 2005
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| 27 | DEL1P36, DUP1P36
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| Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype.
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| Tonk VS, Wilson GN, Yatsenko SA, Stankiewicz P, Lupski JR, Schutt RC, Northup JK, Velagaleti GV.
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| Am J Med Genet A 139(2):136-40. 2005
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| 28 | DEL1P36
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| Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome.
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| 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.
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| Brain Dev 27(5):378-82. Epub 2005 Apr 13. 2005
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| 29 | DEL1P36
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| Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions.
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| Ballif BC, Gajecka M, Shaffer LG.
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| Chromosome Res 12(2):133-41. 2004
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| 30 | DEL1P36
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| Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.
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| Ballif BC, Wakui K, Gajecka M, Shaffer LG.
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| Hum Genet 114(2):198-206. Epub 2003 Oct 25. 2004
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| 31 | DEL1P36
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| Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality.
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| Heilstedt HA, Ballif BC, Howard LA, Kashork CD, Shaffer LG.
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| Clin Genet 64(4):310-6. 2003
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| 32 | DEL1P36
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| Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.
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| Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, Bacino CA, Shapira SK, Shaffer LG.
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| Am J Hum Genet 72(5):1200-12. Epub 2003 Apr 08. 2003
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| 33 | DEL1P36
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| Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.
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| Yu W, Ballif BC, Kashork CD, Heilstedt HA, Howard LA, Cai WW, White LD, Liu W, Beaudet AL, Bejjani BA, Shaw CA, Shaffer LG.
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| Hum Mol Genet 12(17):2145-52. Epub 2003 Jul 15. 2003
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| 34 | DEL1P36, DEL1Q44, DEL2Q37
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| Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: a cause of minute terminal chromosomal imbalances.
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| Daniel A, Baker E, Chia N, Haan E, Malafiej P, Hinton L, Clarke N, Ades L, Darmanian A, Callen D.
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| Am J Med Genet 117A(1):57-64. Review. 2003
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| 35 | DEL1P36
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| A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy.
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| Okamoto N, Toribe Y, Nakajima T, Okinaga T, Kurosawa K, Nonaka I, Shimokawa O, Matsumoto N.
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| J Hum Genet 47(10):556-9. 2002
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| 36 | DEL1P36
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| Monosomy 1p36--a recently delineated, clinically recognizable syndrome.
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| Zenker M, Rittinger O, Grosse KP, Speicher MR, Kraus J, Rauch A, Trautmann U.
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| Clin Dysmorphol 11(1):43-8. 2002
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| 37 | DEL1P36
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| Neurodevelopmental profile of a new dysmorphic syndrome associated with submicroscopic partial deletion of 1p36.3.
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| Knight-Jones E, Knight S, Heussler H, Regan R, Flint J, Martin K.
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| Dev Med Child Neurol 42(3):201-6. 2000
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| 38 | DEL1P36
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| Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions.
|
| Wu YQ, et al.
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| Hum Mol Genet 8 : 313-321. 1999
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| 39 | DEL1P36
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| Terminal deletion, del(1) (p36.3), detected through screening for terminal deletions in patients with unclassifed malformation syndromes.
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| Riegel M, et al.
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| Am J Med Genet 82 : 249-253. 1999
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| 40 | DEL1P36
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| Monosomy 1p36.
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| Slavotinek A, et al.
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| J Med Genet 36(9):657-63 1999
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| 41 | DEL1P36
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| Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.
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| Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FF, Sutton VR, Korenberg JR, Greenberg F, Shaffer LG.
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| Am J Hum Genet 61(3):642-50. 1997
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| 42 | DEL1P36
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| Partial monosomy of chromosome 1p36.3 : characterization of the critical region and delineation of a syndrome.
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| Reish O, Berry SA, Hirsch B.
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| Am J Med Genet 59 : 467-475. 1995
|