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Items: 1 to 20 of 134

1.

Chromosome 18q paracentric inversion in a family with mental retardation and hearing loss.

Keppler-Noreuil KM, Carroll AJ, Finley SC, Descartes M, Cody JD, DuPont BR, Gay CT, Leach RJ.

Am J Med Genet. 1998 Apr 13;76(5):372-8.

PMID:
9556294
2.

Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q.

Gunn SR, Mohammed M, Reveles XT, Viskochil DH, Palumbos JC, Johnson-Pais TL, Hale DE, Lancaster JL, Hardies LJ, Boespflug-Tanguy O, Cody JD, Leach RJ.

Am J Med Genet A. 2003 Jul 1;120A(1):127-35.

PMID:
12794705
3.

[A girl with partial monosomy 18q21: cytogenetic and molecular genetics studies].

Lu HY, Cui YX, Shi YC, Xia XY, Yang B, Yao B, Huang YF.

Yi Chuan. 2008 Aug;30(8):991-5. Chinese.

PMID:
18779147
4.

Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression.

Wakui K, Toyoda A, Kubota T, Hidaka E, Ishikawa M, Katsuyama T, Sakaki Y, Hattori M, Fukushima Y.

J Hum Genet. 2002;47(10):511-6.

PMID:
12376739
5.

Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion.

Courtens W, Grossman D, Van Roy N, Messiaen L, Vamos E, Toppet V, Haumont D, Streydio C, Jauch A, Vermeesch JR, Speleman F.

Hum Genet. 1998 Oct;103(4):497-505.

PMID:
9856497
6.

Identification of 2.3-Mb gene locus for congenital aural atresia in 18q22.3 deletion: a case report analyzed by comparative genomic hybridization.

Dostal A, Nemeckova J, Gaillyova R, Vranova V, Zezulkova D, Lejska M, Slapak I, Dostalova Z, Kuglik P.

Otol Neurotol. 2006 Apr;27(3):427-32. Review.

PMID:
16639285
7.

Molecular characterization of patients with 18q23 deletions.

Strathdee G, Sutherland R, Jonsson JJ, Sataloff R, Kohonen-Corish M, Grady D, Overhauser J.

Am J Hum Genet. 1997 Apr;60(4):860-8.

8.

Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y.

Delicado A, Lapunzina P, Palomares M, Molina MA, Galán E, López Pajares I.

Eur J Med Genet. 2005 Apr-Jun;48(2):159-66. Epub 2005 Mar 2.

PMID:
16053907
9.

Congenital aural atresia in 18q deletion or de Grouchy syndrome.

Nuijten I, Admiraal R, Van Buggenhout G, Cremers C, Frijns JP, Smeets D, van Ravenswaaij-Arts C.

Otol Neurotol. 2003 Nov;24(6):900-6.

PMID:
14600472
10.

Mapping susceptibility gene locus for IgA deficiency at del(18)(q22.3-q23); report of familial cryptic chromosome t(18q; 10p) translocations.

Dostal A, Linnankivi T, Somer M, Kähkönen M, Litzman J, Tienari P.

Int J Immunogenet. 2007 Jun;34(3):143-7.

PMID:
17504501
11.

Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation.

Wester U, Bondeson ML, Edeby C, Annerén G.

Am J Med Genet A. 2006 Jun 1;140(11):1164-71.

PMID:
16691587
12.

Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3).

Gustavsson P, Kimber E, Wahlström J, Annerén G.

Am J Med Genet. 1999 Feb 12;82(4):348-51.

PMID:
10051171
13.

Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation.

Lennon PA, Cooper ML, Curtis MA, Lim C, Ou Z, Patel A, Cheung SW, Bacino CA.

Am J Med Genet A. 2006 Jun 1;140(11):1156-63.

PMID:
16688748
14.

Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome: evidence for myelin basic protein haploinsufficiency.

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.

Am J Med Genet. 1997 Jul 25;74(4):422-31.

PMID:
9259379
15.

Familial pericentric inversion of chromosome 18: intrafamilial variability of the recombinant dup(18q).

Prontera P, Buldrini B, Aiello V, Rogaia D, Mencarelli A, Gruppioni R, Bonfatti A, Beltrami N, Donti E, Sensi A.

Genet Couns. 2010;21(1):91-7.

PMID:
20420035
16.

Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child.

Lorda-Sanchez I, Lopez-Pajares I, Roche MC, Sanz R, Rodriguez de Alba M, Gonzalez-Gonzalez MC, Ibañez A, Ramos C, Ayuso C.

Am J Med Genet. 2000 Dec 11;95(4):336-8.

PMID:
11186887
17.

Global brain dysmyelination with above-average verbal skills in 18q- syndrome with a 17 Mb terminal deletion.

Netzer C, Helmstaedter C, Ehrbrecht A, Engels H, Schwanitz G, Urbach H, Schröder R, Weber RG, Kornblum C.

Acta Neurol Scand. 2006 Aug;114(2):133-8.

PMID:
16867037
18.

Pericentric inversion inv(7)(p11q21.1): report on two cases and genotype-phenotype correlations.

Vorsanova SG, Iourov IY, Demidova IA, Kolotii AD, Soloviev IV, Yurov YB.

Tsitol Genet. 2006 May-Jun;40(3):45-8.

PMID:
16933852
19.

Direct transmission of the 18q- syndrome from mother to daughter.

Chen CP, Lin SP, Chern SR, Lee CC, Huang JK, Wang W.

Genet Couns. 2006;17(2):185-9.

PMID:
16970036
20.
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