| 1 | DEL18QD
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| Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability.
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| Margarit E, Morales C, Rodríguez-Revenga L, Monné R, Badenas C, Soler A, Clusellas N, Mademont I, Sánchez A.
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| Am J Med Genet A 158A(3):611-6. doi: 10.1002/ajmg.a.34221. Epub 2012 Feb 2.
2012
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| 2 | DEL18QD, TCF4
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| Mosaic 18q21.2 deletions including the TCF4 gene: A clinical report.
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| Rossi M, Labalme A, Cordier MP, Till M, Blanchard G, Dubois R, Guibaud L, Heissat S, Javouhey E, Lachaux A, Mure PY, Ville D, Edery P, Sanlaville D.
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| Am J Med Genet A m J Med Genet A. 2012 Nov 19. doi: 10.1002/ajmg.a.35588. [Epub ahead of print]
2012
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| 3 | DEL18QD, TCF4
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| The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions.
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| Hasi M, Soileau B, Sebold C, Hill A, Hale DE, O'Donnell L, Cody JD.
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| Hum Genet 130(6):777-87. Epub 2011 Jun 14.
2011
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| 4 | DEL18QD
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| 18q22.3 --> 18q23 deletion syndrome and cleft palate.
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| Eudy JD, Pickering DL, Lutz R, Platt K, Dave BJ, Olney AH, Sanger WG.
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| Am J Med Genet A 152A(4):1046-8. No abstract available. PMID: 20358626 2010
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| 5 | DEL18P, DEL18QD, ISO18P
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| Psychiatric syndromes in individuals with chromosome 18 abnormalities.
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| Zavala J, Ramirez M, Medina R, Heard P, Carter E, Crandall A, Hale D, Cody J, Escamilla M.
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| Am J Med Genet B Neuropsychiatr Genet 153B(3):837-45.PMID: 19927307 2010
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| 6 | DEL18QD, PHS, PTHS, TCF4
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| Mosaic microdeletion 18q21 as a cause of mental retardation.
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| Stavropoulos DJ, Macgregor DL, Yoon G.
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| Eur J Med Genet 53(6):396-399. Epub 2010 Sep 21.PMID: 20813211 2010
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| 7 | DEL18QD, FBXO15, NETO1, TCF4
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| Genetic determinants of autism in individuals with deletions of 18q.
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| O'Donnell L, Soileau B, Heard P, Carter E, Sebold C, Gelfond J, Hale DE, Cody JD.
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| Hum Genet 128(2):155-64. Epub 2010 May 25.PMID: 20499253 2010
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| 8 | DEL18QD
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| High resolution genomic analysis of 18q- using oligo-microarray comparative genomic hybridization (aCGH).
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| Heard PL, Carter EM, Crandall AC, Sebold C, Hale DE, Cody JD.
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| Am J Med Genet A 149A(7):1431-1437. [Epub ahead of print]
2009
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| 9 | DEL18QD
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| Narrowing critical regions and determining penetrance for selected 18q- phenotypes.
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| Cody JD, Heard PL, Crandall AC, Carter EM, Li J, Hardies LJ, Lancaster J, Perry B, Stratton RF, Sebold C, Schaub RL, Soileau B, Hill A, Hasi M, Fox PT, Hale DE.
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| Am J Med Genet A 149A(7):1421-1430. [Epub ahead of print]
2009
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| 10 | DEL18P, DEL18QD
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| Psychiatric syndromes in individuals with chromosome 18 abnormalities.
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| Zavala J, Ramirez M, Medina R, Heard P, Carter E, Crandall A, Hale D, Cody J, Escamilla M.
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| Am J Med Genet B Neuropsychiatr Genet m J Med Genet B Neuropsychiatr Genet. 2009 Nov 19. [Epub ahead of print] 2009
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| 11 | DEL18P, DEL18QD
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| A gene dosage map of Chromosome 18: a map with clinical utility.
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| Cody JD, Carter EM, Sebold C, Heard PL, Hale DE.
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| Genet Med 11(11):778-82.
2009
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| 12 | TCF4, PTHS, DEL18QD
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| Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array.
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| Andrieux J, Lepretre F, Cuisset JM, Goldenberg A, Delobel B, Manouvrier-Hanu S, Holder-Espinasse M.
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| Eur J Med Genet [Epub ahead of print] 2008
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| 13 | DEL13QD, DEL14QD, DEL15QD, DEL18QD, DEL22QD, RG14, RG20
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| Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.
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| Rossi E, Riegel M, Messa J, Gimelli S, Maraschio P, Ciccone R, Stroppi M, Riva P, Perrotta CS, Mattina T, Memo L, Baumer A, Kucinskas V, Castellan C, Schinzel A, Zuffardi O.
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| J Med Genet 45(3):147-54. Epub 2007 Nov 15. 2008
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| 14 | DEL18QD, DUP4QD
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| Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication.
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| Horbinski C, Carter EM, Heard PL, Sathanoori M, Hu J, Vockley J, Gunn S, Hale DE, Surti U, Cody JD.
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| Am J Med Genet A m J Med Genet A. 2008 Oct 16. [Epub ahead of print]
2008
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| 15 | DEL18QD
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| Expansion in size of a terminal deletion: a paradigm shift for parental follow-up studies.
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| South ST, Rope AF, Lamb AN, Aston E, Glaus N, Whitby H, Maxwell T, Zhu XL, Brothman AR.
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| J Med Genet 45(6):391-5. Epub 2008 Apr 15.
2008
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| 16 | DEL18QD, DEL18QP
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| Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map.
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| Feenstra I, Vissers LE, Orsel M, van Kessel AG, Brunner HG, Veltman JA, van Ravenswaaij-Arts CM.
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| Am J Med Genet A 143(16):1858-67. 2007
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| 17 | BWS, DEL18QD
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| Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency.
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| Lirussi F, Jonard L, Gaston V, Sanlaville D, Kooy RF, Winnepenninckx B, Maher ER, Fitzpatrick DR, Gicquel C, Portno• MF, Couderc R, Vazquez MP, Bahuau M.
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| Am J Med Genet A 143(23):2796-803. 2007
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| 18 | DEL18QD, DEL9Q34, SMS, WBS
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| Novel microdeletion syndromes.
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| Krantz ID, Spinner NB.
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| Am J Med Genet C Semin Med Genet 145C(4):323-6. Review. No abstract available.
2007
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| 19 | DEL18QD
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| 18q deletions: Clinical, molecular, and brain MRI findings of 14 individuals.
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| Linnankivi T, Tienari P, Somer M, Kahkonen M, Lonnqvist T, Valanne L, Pihko H.
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| Am J Med Genet A 140(4):331-9. 2006
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| 20 | DEL18QD
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| Global brain dysmyelination with above-average verbal skills in 18q- syndrome with a 17 Mb terminal deletion.
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| Netzer C, Helmstaedter C, Ehrbrecht A, Engels H, Schwanitz G, Urbach H, Schroder R, Weber RG, Kornblum C.
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| Acta Neurol Scand 114(2):133-8. 2006
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| 21 | DUP10P, DEL18QD
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| A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review.
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| Courtens W, Wuyts W, Scheers S, Van Luijk R, Reyniers E, Rooms L, Ceulemans B, Kooy F, Wauters J.
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| Eur J Med Genet 49(5):402-13. Epub 2006 Jan 30. Review. 2006
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| 22 | DEL18QD
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| 18q deletions: clinical, molecular, and brain MRI findings of 14 individuals.
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| Linnankivi T, Tienari P, Somer M, Kähkönen M, Lönnqvist T, Valanne L, Pihko H.
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| Am J Med Genet A 140(4):331-9.
2006
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| 23 | DEL18QD
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| Direct transmission of the 18q- syndrome from mother to daughter.
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| Chen CP, Lin SP, Chern SR, Lee CC, Huang JK, Wang W.
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| Genet Couns 17(2):185-9.
2006
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| 24 | DEL18QD
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| Growth hormone benefits children with 18q deletions.
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| Cody JD, Semrud-Clikeman M, Hardies LJ, Lancaster J, Ghidoni PD, Schaub RL, Thompson NM, Wells L, Cornell JE, Love TM, Fox PT, Leach RJ, Kaye CI, Hale DE.
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| Am J Med Genet A 137(1):9-15. 2005
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| 25 | DEL18QD
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| Autonomic seizures in 18q- syndrome.
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| Stephenson JB.
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| Brain Dev 27(2):125-6. 2005
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| 26 | ATP9B, DEL18P, DEL18QD, FAM69C, TRI18, TTC39C
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| DNA sequence and analysis of human chromosome 18.
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| Nusbaum C, Zody MC, Borowsky ML, Kamal M, Kodira CD, Taylor TD, Whittaker CA, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Yang X, Abouelleil A, Allen NR, Anderson S, Bloom T, Bugalter B, Butler J, Cook A, DeCaprio D, Engels R, Garber M, Gnirke A, Hafez N, Hall JL, Norman CH, Itoh T, Jaffe DB, Kuroki Y, Lehoczky J, Lui A, Macdonald P, Mauceli E, Mikkelsen TS, Naylor JW, Nicol R, Nguyen C, Noguchi H, O'Leary SB, Piqani B, Smith CL, Talamas JA, Topham K, Totoki Y, Toyoda A, Wain HM, Young SK, Zeng Q, Zimmer AR, Fujiyama A, Hattori M, Birren BW, Sakaki Y, Lander ES.
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| Nature 437(7058):551-5. 2005
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| 27 | DEL18QD
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| Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: a specific cardiac phenotype associated with deletion 18q syndrome.
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| Versacci P, Digilio MC, Sauer U, Dallapiccola B, Marino B.
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| Am J Med Genet A 138(2):185-6. No abstract available. 2005
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| 28 | DEL21QP, DEL18QD
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| Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21.
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| Riegel M, Hargreaves P, Baumer A, Guc-Scekic M, Ignjatovic M, Schinzel A.
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| Eur J Med Genet 48(2):167-74. Epub 2005 Feb 17. 2005
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| 29 | DEL18QD
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| Congenital aural atresia in 18q deletion or de Grouchy syndrome.
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| Nuijten I, Admiraal R, Van Buggenhout G, Cremers C, Frijns JP, Smeets D, van Ravenswaaij-Arts C.
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| Otol Neurotol 24(6):900-6. 2003
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| 30 | DEL18QD,DEL18QP
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| Deletion of chromosome region 18q21.1 --> 18q21.3 in a patient without clinical features of the 18q- phenotype.
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| Engelen JJ, Moog U, Weber J, Haagen AA, van Uum CM, Hamers AJ.
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| Am J Med Genet A 119(3):356-9. 2003
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| 31 | DEL18P, DEL18QD
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| Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.
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| Stankiewicz P, Brozek I, Helias-Rodzewicz Z, Wierzba J, Pilch J, Bocian E, Balcerska A, Wozniak A, Kardas I, Wirth J, Mazurczak T, Limon J.
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| Am J Med Genet 101(3):226-39. 2001
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| 32 | DEL18QD
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| An 18q-syndrome breakpoint resides between the duplicated serpins SCCA1 and SCCA2 and arises via a cryptic rearrangement with satellite III DNA.
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| Katz SG, Schneider SS, Bartuski A, Trask BJ, Massa H, Overhauser J, Lalande M, Lansdorp PM, Silverman GA.
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| Hum Mol Genet 8 : 87-92. 1999
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| 33 | DEL18QD
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| Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q.
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| Cody JD, Ghidoni PD, DuPont BR, Hale DE, Hilsenbeck SG, Stratton RF, Hoffman DS, Muller S, Schaub RL, Leach RJ, Kaye CI.
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| Am J Med Genet 85(5):455-62. 1999
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| 34 | DEL18QD
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| Identification of cryptic rearrangements in patients with 18q- deletion syndrome.
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| Brkanac Z, Cody JD, Leach RJ, DuPont BR.
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| Am J Hum Genet 62(6):1500-6. 1998
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| 35 | TGFBRE, DEL18QD
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| Growth hormone deficiency associated in the 18q deletion syndrome.
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| Ghidoni PD, et al.
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| Am J Med Genet 69 : 7-12. 1997
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| 36 | DEL18QD, GALR1, MBP
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| Growth hormone insufficiency associated with haploinsufficiency at 18q23.
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| Cody JD, Hale DE, Brkanac Z, Kaye CI, Leach RJ.
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| Am J Med Genet 71(4):420-5. 1997
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| 37 | DEL18QD
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| Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome: evidence for myelin basic protein haploinsufficiency.
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| Gay CT, Hardies LJ, Rauch RA, Lancaster JL, Plaetke R, DuPont BR, Cody JD, Cornell JE, Herndon RC, Ghidoni PD, Schiff JM, Kaye CI, Leach RJ, Fox PT.
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| Am J Med Genet 74(4):422-31. 1997
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| 38 | DEL18QD
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| Molecular characterization of patients with 18q23 deletions.
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| Strathdee G, Sutherland R, Jonsson JJ, Sataloff R, Kohonen-Corish M, Grady D, Overhauser J.
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| Am J Hum Genet 60(4):860-8. 1997
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| 39 | DEL18QD
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| Neuropsychiatry of 18q- syndrome.
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| Mahr RN, Moberg PJ, Overhauser J, Strathdee G, Kamholz J, Loevner LA, Campbell H, Zackai EH, Reber ME, Mozley DP, Brown L, Turetsky BI, Shapiro RM.
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| Am J Med Genet 67(2):172-8. 1996
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| 40 | DEL18QD
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| A new deletion of 18q23 with few typical features of the 18q- syndrome.
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| Kohonen-Corish M, Strathdee G, Overhauser J, McDonald T, Jammu V.
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| J Med Genet 33(3):240-3. 1996
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| 41 | DEL18QD
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| The 18q- syndrome : analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.q22.2.
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| Silverman GA, et al.
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| Am J Hum Genet 56 : 926-937. 1995
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| 42 | DEL18QD
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| Analysis of clinical variation seen in patients with 18q terminal deletions.
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| Strathdee G, Zackai EH, Shapiro R, Kamholz J, Overhauser J.
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| Am J Med Genet 59(4):476-83. 1995
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| 43 | DCC, SERPINB2, DEL18QD
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| Molecular analysis of the 18q- syndrome--and correlation with phenotype.
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| Kline AD, et al.
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| Am J Hum Genet 52 : 895-906. 1993
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| 44 | DEL18QD
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| Syndromes associated with deletion of the long arm of chromosome 18[del(18q)].
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| Wilson MG, Towner JW, Forsman I, Siris E.
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| Am J Med Genet 3(2):155-74. 1979
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| 45 | DEL18QD
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| Deletion partielle des bras longs du chromosome 18
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| De Grouchy J, Royer P, Salmon C, Lamy M.
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| Pathol Biol (Paris) 12:579-82. French. No abstract available. 1964
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