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Items: 17

1.

SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma.

Gregory-Evans CY, Moosajee M, Hodges MD, Mackay DS, Game L, Vargesson N, Bloch-Zupan A, Rüschendorf F, Santos-Pinto L, Wackens G, Gregory-Evans K.

Hum Mol Genet. 2007 Oct 15;16(20):2482-93. Epub 2007 Jul 25.

PMID:
17656375
2.

Otodental syndrome.

Bloch-Zupan A, Goodman JR.

Orphanet J Rare Dis. 2006 Mar 21;1:5. Review.

3.

Delineation of the proximal 3q microdeletion syndrome.

Simovich MJ, Bland SD, Peiffer DA, Gunderson KL, Cheung SW, Yatsenko SA, Shinawi M.

Am J Med Genet A. 2008 Jul 1;146A(13):1729-35. doi: 10.1002/ajmg.a.32292. Review.

PMID:
18536049
4.

Ocular coloboma.

Pagon RA.

Surv Ophthalmol. 1981 Jan-Feb;25(4):223-36. Review.

PMID:
6782689
5.

[Genetic basis for malformation-associated uropathy and renal dysplasia].

Oppezzo C, Barberis V, Edefonti A, Cusi D, Marra G.

G Ital Nefrol. 2003 Mar-Apr;20(2):120-6. Review. Italian.

PMID:
12746796
6.

A kindred of familial acromegaly without evidence for linkage to MEN-1 locus.

Tamura Y, Ishibashi S, Gotoda T, Yasufuku-Takano J, Takano K, Ueki K, Yamashita S, Iizuka Y, Yahagi N, Shionoiri F, Okazaki H, Ohashi K, Osuga J, Harada K, Shimano H, Fujita T, Yamada N, Kimura S.

Endocr J. 2002 Aug;49(4):425-31. Review.

7.

Partial tetrasomy of chromosome 22: genetic and surgical implications for otolaryngologists.

Godinho RN, Keogh IJ, Morales GM, Calixto N, Gonçalves TM.

Ear Nose Throat J. 2004 Nov;83(11):748, 750, 752. Review.

PMID:
15628630
8.

Phenotypic correlations of ocular coloboma without known cause.

Leppig KA, Pagon RA.

Clin Dysmorphol. 1993 Oct;2(4):322-31. Review.

PMID:
8305963
9.

Uveal coloboma: clinical and basic science update.

Chang L, Blain D, Bertuzzi S, Brooks BP.

Curr Opin Ophthalmol. 2006 Oct;17(5):447-70. Review.

PMID:
16932062
10.

Branchio-oto-renal syndrome.

Rodríguez Soriano J.

J Nephrol. 2003 Jul-Aug;16(4):603-5. Review.

PMID:
14696767
11.

Normal and abnormal ocular development in man.

Torczynski E.

Prog Clin Biol Res. 1982;82:35-51. Review. No abstract available.

PMID:
6810371
12.

Zebrafish models of human eye and inner ear diseases.

Blanco-Sánchez B, Clément A, Phillips JB, Westerfield M.

Methods Cell Biol. 2017;138:415-467. doi: 10.1016/bs.mcb.2016.10.006. Epub 2016 Nov 23. Review.

PMID:
28129854
13.

[Oto-oculo-musculo-skeletal syndrome].

Narahara K.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):441. Review. Japanese. No abstract available.

PMID:
11528826
14.

Application of genetic approaches to ocular disease.

Ruttum MS, Reis LM, Semina EV.

Pediatr Clin North Am. 2006 Aug;53(4):751-65. Review.

PMID:
16873003
15.

A genome-wide scan and fine mapping in Tourette syndrome families.

Pauls DL.

Adv Neurol. 2006;99:130-5. Review. No abstract available.

PMID:
16536358
16.

[Oto-dental dysplasia].

Narahara K.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):439-40. Review. Japanese. No abstract available.

PMID:
11528825
17.

[Oculo-encephalo-hepato-renal syndrome].

Sugio Y.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):346-7. Review. Japanese. No abstract available.

PMID:
11528776

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