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Items: 1 to 20 of 255

1.

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
2.

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
3.

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.

Veltman JA, Jonkers Y, Nuijten I, Janssen I, van der Vliet W, Huys E, Vermeesch J, Van Buggenhout G, Fryns JP, Admiraal R, Terhal P, Lacombe D, van Kessel AG, Smeets D, Schoenmakers EF, van Ravenswaaij-Arts CM.

Am J Hum Genet. 2003 Jun;72(6):1578-84. Epub 2003 May 9.

4.

Hearing impairment in 18q deletion syndrome.

Jayarajan V, Swan IR, Patton MA.

J Laryngol Otol. 2000 Dec;114(12):963-6. Review.

PMID:
11177369
5.

Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map.

Feenstra I, Vissers LE, Orsel M, van Kessel AG, Brunner HG, Veltman JA, van Ravenswaaij-Arts CM.

Am J Med Genet A. 2007 Aug 15;143A(16):1858-67.

PMID:
17632778
6.

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.

7.

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
8.

Identification of cryptic rearrangements in patients with 18q- deletion syndrome.

Brkanac Z, Cody JD, Leach RJ, DuPont BR.

Am J Hum Genet. 1998 Jun;62(6):1500-6.

9.

De novo 18q deletion with mitral valve insufficiency.

Gunes S, Okten G, Kara N, Saglam Y, Tasdemir HA, Kayacik OE, Tural S.

Genet Couns. 2008;19(3):261-5.

PMID:
18990980
10.

18q deletions: clinical, molecular, and brain MRI findings of 14 individuals.

Linnankivi T, Tienari P, Somer M, Kähkönen M, Lönnqvist T, Valanne L, Pihko H.

Am J Med Genet A. 2006 Feb 15;140(4):331-9.

PMID:
16419126
11.

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
12.

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
13.

Otologic characteristics of individuals with deletions of distal 18q.

Perry BP, Cody JD.

Laryngoscope. 2014 Nov;124(11):2606-9. doi: 10.1002/lary.24769. Epub 2014 Jun 10.

PMID:
24912803
14.

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
15.

Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability.

Margarit E, Morales C, Rodríguez-Revenga L, Monné R, Badenas C, Soler A, Clusellas N, Mademont I, Sánchez A.

Am J Med Genet A. 2012 Mar;158A(3):611-6. doi: 10.1002/ajmg.a.34221. Epub 2012 Feb 2.

PMID:
22302430
16.

Diagnosis and management of salivary fistula after surgery for congenital aural atresia.

Miller RS, Jahrsdoerfer RA, Hashisaki GT, Kesser BW.

Otol Neurotol. 2006 Feb;27(2):189-92.

PMID:
16436988
17.

Anterior segment malformations in 18q- (de Grouchy) syndrome.

Izquierdo NJ, Maumenee IH, Traboulsi EI.

Ophthalmic Paediatr Genet. 1993 Jun;14(2):91-4.

PMID:
8233359
18.

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

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.

Pediatrics. 2008 Feb;121(2):404-10. doi: 10.1542/peds.2007-0929. Erratum in: Pediatrics. 2008 May;121(5):1081. Braley, Lisa L [corrected to Brailey, Lisa L].

PMID:
18245432
19.

Analysis of clinical variation seen in patients with 18q terminal deletions.

Strathdee G, Zackai EH, Shapiro R, Kamholz J, Overhauser J.

Am J Med Genet. 1995 Dec 4;59(4):476-83.

PMID:
8585568
20.

A new deletion of 18q23 with few typical features of the 18q- syndrome.

Kohonen-Corish M, Strathdee G, Overhauser J, McDonald T, Jammu V.

J Med Genet. 1996 Mar;33(3):240-3.

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