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Items: 1 to 20 of 90

1.

1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.

Brun A, Cailley D, Toutain J, Bouron J, Arveiler B, Lacombe D, Goizet C, Rooryck C.

Eur J Med Genet. 2012 Feb;55(2):135-9. doi: 10.1016/j.ejmg.2011.11.006. Epub 2011 Dec 3.

PMID:
22198201
2.

Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.

Andrieux J, Dubourg C, Rio M, Attie-Bitach T, Delaby E, Mathieu M, Journel H, Copin H, Blondeel E, Doco-Fenzy M, Landais E, Delobel B, Odent S, Manouvrier-Hanu S, Holder-Espinasse M.

Am J Med Genet A. 2009 Dec;149A(12):2813-9. doi: 10.1002/ajmg.a.33097.

3.

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

Klopocki E, Graul-Neumann LM, Grieben U, Tönnies H, Ropers HH, Horn D, Mundlos S, Ullmann R.

Eur J Pediatr. 2008 Aug;167(8):903-8. Epub 2007 Oct 12.

4.

Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum.

Rooryck C, Souakri N, Cailley D, Bouron J, Goizet C, Delrue MA, Marlin S, Lacombe FD, Arveiler B.

Am J Med Genet A. 2010 Aug;152A(8):1984-9. doi: 10.1002/ajmg.a.33491.

PMID:
20635336
5.

An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literature.

L Ng IS, Chin WH, P Lim EC, Tan EC.

Twin Res Hum Genet. 2011 Aug;14(4):333-9. doi: 10.1375/twin.14.4.333. Review.

PMID:
21787116
6.

Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication.

Ballesta-Martínez MJ, López-González V, Dulcet LA, Rodríguez-Santiago B, Garcia-Miñaúr S, Guillen-Navarro E.

Am J Med Genet A. 2013 Aug;161A(8):2030-5. doi: 10.1002/ajmg.a.36007. Epub 2013 Jun 21.

PMID:
23794319
7.

Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: a unique double rearrangement.

Torti EE, Braddock SR, Bernreuter K, Batanian JR.

Am J Med Genet A. 2013 Aug;161A(8):1992-8. doi: 10.1002/ajmg.a.35918.

PMID:
23894059
8.

A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype.

Barøy T, Misceo D, Braaten O, Helle JR, Fannemel M, Strømme P, Frengen E.

Eur J Med Genet. 2010 Jul-Aug;53(4):221-4. doi: 10.1016/j.ejmg.2010.03.010. Epub 2010 Apr 9.

PMID:
20382277
9.

2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene.

Rooryck C, Stef M, Burgelin I, Simon D, Souakri N, Thambo JB, Chateil JF, Lacombe D, Arveiler B.

Eur J Med Genet. 2009 Nov-Dec;52(6):446-9. doi: 10.1016/j.ejmg.2009.08.005. Epub 2009 Sep 3.

PMID:
19733267
10.

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

Beleza-Meireles A, Hart R, Clayton-Smith J, Oliveira R, Reis CF, Venâncio M, Ramos F, Sá J, Ramos L, Cunha E, Pires LM, Carreira IM, Scholey R, Wright R, Urquhart JE, Briggs TA, Kerr B, Kingston H, Metcalfe K, Donnai D, Newman WG, Saraiva JM, Tassabehji M.

Eur J Med Genet. 2015 Sep;58(9):455-65. doi: 10.1016/j.ejmg.2015.07.003. Epub 2015 Jul 20.

PMID:
26206081
11.

Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH.

Masurel-Paulet A, Callier P, Thauvin-Robinet C, Chouchane M, Mejean N, Marle N, Mosca AL, Ben Salem D, Giroud M, Guibaud L, Huet F, Mugneret F, Faivre L.

Am J Med Genet A. 2009 Jul;149A(7):1504-10. doi: 10.1002/ajmg.a.32904.

PMID:
19533778
12.

Myelodysplastic syndrome in a child with 15q24 deletion syndrome.

Narumi Y, Shiohara M, Wakui K, Hama A, Kojima S, Yoshikawa K, Amano Y, Kosho T, Fukushima Y.

Am J Med Genet A. 2012 Feb;158A(2):412-6. doi: 10.1002/ajmg.a.34395. Epub 2011 Dec 2.

PMID:
22140075
13.

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome.

Van Esch H, Backx L, Pijkels E, Fryns JP.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):153-6. doi: 10.1016/j.ejmg.2009.02.003. Epub 2009 Feb 21.

PMID:
19233321
14.

Delineation of 15q13.3 microdeletions.

Masurel-Paulet A, Andrieux J, Callier P, Cuisset JM, Le Caignec C, Holder M, Thauvin-Robinet C, Doray B, Flori E, Alex-Cordier MP, Beri M, Boute O, Delobel B, Dieux A, Vallee L, Jaillard S, Odent S, Isidor B, Beneteau C, Vigneron J, Bilan F, Gilbert-Dussardier B, Dubourg C, Labalme A, Bidon C, Gautier A, Pernes P, Pinoit JM, Huet F, Mugneret F, Aral B, Jonveaux P, Sanlaville D, Faivre L.

Clin Genet. 2010 Aug;78(2):149-61. doi: 10.1111/j.1399-0004.2010.01374.x. Epub 2010 Feb 9.

PMID:
20236110
15.

A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients.

Kiholm Lund AB, Hove HD, Kirchhoff M.

Eur J Med Genet. 2008 Nov-Dec;51(6):520-6. doi: 10.1016/j.ejmg.2008.07.008. Epub 2008 Aug 7.

PMID:
18755302
16.

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.

El-Hattab AW, Smolarek TA, Walker ME, Schorry EK, Immken LL, Patel G, Abbott MA, Lanpher BC, Ou Z, Kang SH, Patel A, Scaglia F, Lupski JR, Cheung SW, Stankiewicz P.

Hum Genet. 2009 Oct;126(4):589-602. doi: 10.1007/s00439-009-0706-x. Epub 2009 Jun 26.

17.

Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome.

Callier P, Faivre L, Thauvin-Robinet C, Marle N, Mosca AL, D'Athis P, Guy J, Masurel-Paulet A, Joly L, Guiraud S, Teyssier JR, Huet F, Mugneret F.

Am J Med Genet A. 2008 Aug 15;146A(16):2109-15. doi: 10.1002/ajmg.a.32447.

PMID:
18629884
18.

Clinical report: AN INTERSTITIAL deletion of 16p13.11 detected by array CGH in a patient with infantile spasms.

Balasubramanian M, Smith K, Mordekar SR, Parker MJ.

Eur J Med Genet. 2011 May-Jun;54(3):314-8. doi: 10.1016/j.ejmg.2011.01.008. Epub 2011 Feb 26.

PMID:
21315189
19.

Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case.

Veredice C, Bianco F, Contaldo I, Orteschi D, Stefanini MC, Battaglia D, Lettori D, Guzzetta F, Zollino M.

Epilepsia. 2009 Jul;50(7):1810-5. doi: 10.1111/j.1528-1167.2009.02078.x. Epub 2009 Apr 19.

20.

Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype.

Colovati ME, Bragagnolo S, Guilherme RS, Dantas AG, Soares MF, Kim CA, Perez AB, Melaragno MI.

Cytogenet Genome Res. 2015;147(2-3):130-4. doi: 10.1159/000444228. Epub 2016 Feb 27.

PMID:
26919065

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