| 1 | DUP17P11
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| Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.
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| Goh ES, Perez IC, Canales CP, Ruiz P, Agatep R, Yoon G, Chitayat D, Dror Y, Shago M, Goobie S, Sgro M, Walz K, Mendoza-Londono R.
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| Am J Med Genet A 158A(7):1579-88. doi: 10.1002/ajmg.a.35399. Epub 2012 May 25.
2012
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| 2 | DUP17P11, DUP17Q11
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| The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome.
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| Sanchez-Valle A, Pierpont ME, Potocki L.
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| Am J Med Genet A 155(2):363-6. doi: 10.1002/ajmg.a.33844. Epub 2011 Jan 13.PMID: 21271655 2011
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| 3 | DUP17P11, PTLS
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| Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive.
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| Soler-Alfonso C, Motil KJ, Turk CL, Robbins-Furman P, Friedman EM, Zhang F, Lupski JR, Fraley JK, Potocki L.
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| J Pediatr 158(4):655-659.e2. Epub 2010 Dec 17.
2011
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| 4 | DUP17P11
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| Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart.
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| Yusupov R, Roberts AE, Lacro RV, Sandstrom M, Ligon AH.
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| Am J Med Genet A 155A(2):367-71. doi: 10.1002/ajmg.a.33845.
2011
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| 5 | DUP17P11
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| Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2).
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| Treadwell-Deering DE, Powell MP, Potocki L.
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| J Dev Behav Pediatr 31(2):137-43.PMID: 20110824 2010
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| 6 | DUP17P11, RAI1
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| Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.
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| Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P, Navarro AD, Wheeler PG, Spence JE, Brasington CK, Withers MA, Lupski JR.
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| Am J Hum Genet 86(3):462-70. Epub 2010 Feb 25.PMID: 20188345 2010
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| 7 | CMT1A, DUP17P11, DUP17P13
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| Genomic and clinical characteristics of microduplications in chromosome 17.
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| Shchelochkov OA, Cheung SW, Lupski JR.
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| Am J Med Genet A 152A(5):1101-10.PMID: 20425816 2010
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| 8 | DUP15Q12, DUP15Q13, DUP15Q14, DUP17P11, DUP22Q11, DUP7Q11
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| Common recurrent microduplication syndromes: diagnosis and management in clinical practice.
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| Berg JS, Potocki L, Bacino CA.
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| Am J Med Genet A 152A(5):1066-78.PMID: 20425813 2010
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| 9 | DUP17P11, RAI1, SMS
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| How much is too much? Phenotypic consequences of Rai1 overexpression in mice.
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| Girirajan S, Patel N, Slager RE, Tokarz ME, Bucan M, Wiley JL, Elsea SH.
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| Eur J Hum Genet 16(8):941-54. Epub 2008 Feb 20.
2008
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| 10 | DUP17P11
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| Three new patients with dup(17)(p11.2p11.2) without autism.
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| Greco D, Romano C, Reitano S, Barone C, Benedetto DD, Castiglia L, Fichera M, Galesi O, Zingale M, Buono S, Uliana V, Caselli R, Canitano R, Hayek G, Renieri A.
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| Clin Genet [Epub ahead of print] No abstract available. 2008
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| 11 | DUP17P11
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| The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients.
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| Doco-Fenzy M, Holder-Espinasse M, Bieth E, Magdelaine C, Vincent MC, Khoury M, Andrieux J, Zhang F, Lupski JR, Klink R, Schneider A, Goze-Martineau O, Cuisset JM, Vallee L, Manouvrier-Hanu S, Gaillard D, de Martinville B.
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| Am J Med Genet A [Epub ahead of print] 2008
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| 12 | DUP17P11, RAI1
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| Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype.
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| Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR.
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| Am J Hum Genet 80(4):633-49. Epub 2007 Feb 26. 2007
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| 13 | DUP17P11, RAI1, DRG2, RASD1
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| Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.
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| Nakamine A, Ouchanov L, Jimenez P, Manghi ER, Esquivel M, Monge S, Fallas M, Burton BK, Szomju B, Elsea SH, Marshall CR, Scherer SW, McInnes LA.
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| Am J Med Genet A [Epub ahead of print] 2007
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| 14 | DUP17P11
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| 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
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| Girirajan S, Williams SR, Garbern JY, Nowak N, Hatchwell E, Elsea SH.
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| Clin Genet 72(1):47-58. 2007
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| 15 | DUP17P, DUP17P11
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| Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications.
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| Yatsenko SA, Treadwell-Deering D, Krull K, Lewis RA, Glaze D, Stankiewicz P, Lupski JR, Potocki L.
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| Am J Med Genet A 138A(2):175-80. Review. 2005
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| 16 | SMS, DUP17P11
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| Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2).
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| Walz K, Spencer C, Kaasik K, Lee CC, Lupski JR, Paylor R.
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| Hum Mol Genet 13(4):367-78. Epub 2004 Jan 6. 2004
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| 17 | SMS, DUP17P11, CMT1A, HNPP
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| Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.
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| Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, Beaudet AL, Lupski JR.
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| J Med Genet 41(2):113-9. 2004
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| 18 | DUP17P11, SMS, SMS-REPD, SMS-REPM, SMS-REPP
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| Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.
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| Shaw CJ, Bi W, Lupski JR.
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| Am J Hum Genet 71(5):1072-81. Epub 2002 Oct 9. 2002
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| 19 | CLPSMCR, DUP17P11, TRESMCR, KERSMCR, SRPSMCR
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| Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.
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| Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR.
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| Nat Genet 24(1):84-7. 2000
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| 20 | DUP17P11
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| Mild phenotype due to tandem duplication of l7p11.2.
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| Schneider MC, Hughes CR, Forrester S, Kimonis V.
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| Am J Med Genet 94(4):296-9. Review. 2000
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| 21 | DUP17P11
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| A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome.
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| Balarin MA, da Silva Lopes VL, Varella-Garcia M.
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| Am J Med Genet 82(2):183-6. 1999
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| 22 | DUP17P11
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| Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion?
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| Brown A, Phelan MC, Patil S, Crawford E, Rogers RC, Schwartz C.
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| Am J Med Genet 63(2):373-7. Erratum in: Am J Med Genet 1996 Oct 28;65(3):254. 1996
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| 23 | DUP17P11
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| De novo duplication of 17p [dup(17)(p12----p11.2)]: report of an additional case with confirmation of the cytogenetic, phenotypic, and developmental aspects.
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| Kozma C, Meck JM, Loomis KJ, Galindo HC.
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| Am J Med Genet 41(4):446-50. 1991
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| 24 | DUP17P11
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| De novo partial duplication of 17p [dup(17)(p12----p11.2)]: clinical report.
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| Magenis RE, Brown MG, Allen L, Reiss J.
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| Am J Med Genet 24(3):415-20. 1986
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