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Items: 1 to 20 of 483

1.

Exclusion of candidate genetic loci for Duane retraction syndrome.

Ott S, Borchert M, Chung M, Appukuttan B, Wang X, Weinberg K, Stout JT.

Am J Ophthalmol. 1999 Mar;127(3):358-60.

PMID:
10088756
2.

Localization of a gene for Duane retraction syndrome to chromosome 2q31.

Appukuttan B, Gillanders E, Juo SH, Freas-Lutz D, Ott S, Sood R, Van Auken A, Bailey-Wilson J, Wang X, Patel RJ, Robbins CM, Chung M, Annett G, Weinberg K, Borchert MS, Trent JM, Brownstein MJ, Stout JT.

Am J Hum Genet. 1999 Dec;65(6):1639-46.

3.

Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31.

Evans JC, Frayling TM, Ellard S, Gutowski NJ.

Hum Genet. 2000 Jun;106(6):636-8.

PMID:
10942112
4.

Infantile esotropia could be oligogenic and allelic with Duane retraction syndrome.

Khan AO, Shinwari J, Al Sharif L, Khalil D, Al-Gehedan S, Tassan NA.

Mol Vis. 2011;17:1997-2002. Epub 2011 Jul 20.

5.

Are Duane syndrome and infantile esotropia allelic?

Connell BJ, Wilkinson RM, Barbour JM, Scotter LW, Poulsen JL, Wirth MG, Essex RW, Savarirayan R, Mackey DA.

Ophthalmic Genet. 2004 Sep;25(3):189-98.

PMID:
15512995
6.

Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci.

Burdon KP, Coster DJ, Charlesworth JC, Mills RA, Laurie KJ, Giunta C, Hewitt AW, Latimer P, Craig JE.

Hum Genet. 2008 Nov;124(4):379-86. doi: 10.1007/s00439-008-0555-z. Epub 2008 Sep 5.

PMID:
18795334
7.

Duane retraction syndrome, a new feature in 22q11 deletion syndrome?

Versteegh FG, von Lindern JS, Kemper J, Eichhorn E, Simonsz HJ, Wouters CH.

Clin Dysmorphol. 2000 Apr;9(2):135-7.

PMID:
10826628
8.
9.

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.

Vincent C, Kalatzis V, Compain S, Levilliers J, Slim R, Graia F, Pereira ML, Nivelon A, Croquette MF, Lacombe D, et al.

Hum Mol Genet. 1994 Oct;3(10):1859-66.

PMID:
7849713
10.

Lack of linkage of apparently dominant cleft lip (palate) to two candidate chromosomal regions.

Pierpont JW, Storm AL, Erickson RP, Kohn BR, Pettijohn L, DePaepe A.

J Craniofac Genet Dev Biol. 1995 Apr-Jun;15(2):66-71.

PMID:
7635931
11.

[Preliminary linkage analysis on autosomal dominant microphthalmia with 12 microsatellite markers].

Yu P, Zhou Q, Guo L, Zhou YM, Luo YY, Zhang RY, Yan XY, Ding KP, Hong ZF, Zhang YZ.

Shi Yan Sheng Wu Xue Bao. 2004 Apr;37(2):85-90. Chinese.

PMID:
15259979
13.

First genomic localization of oculo-oto-dental syndrome with linkage to chromosome 20q13.1.

Vieira H, Gregory-Evans K, Lim N, Brookes JL, Brueton LA, Gregory-Evans CY.

Invest Ophthalmol Vis Sci. 2002 Aug;43(8):2540-5.

PMID:
12147582
14.

Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24.

Schüle R, Bonin M, Dürr A, Forlani S, Sperfeld AD, Klimpe S, Mueller JC, Seibel A, van de Warrenburg BP, Bauer P, Schöls L.

Neurology. 2009 Jun 2;72(22):1893-8. doi: 10.1212/WNL.0b013e3181a6086c. Epub 2009 Apr 8.

PMID:
19357379
15.

Autosomal linkage analysis of a Japanese single multiplex schizophrenia pedigree reveals two candidate loci on chromosomes 4q and 3q.

Kaneko N, Muratake T, Kuwabara H, Kurosaki T, Takei M, Ohtsuki T, Arinami T, Tsuji S, Someya T.

Am J Med Genet B Neuropsychiatr Genet. 2007 Sep 5;144B(6):735-42.

PMID:
17671967
16.

Expanded genomewide scan implicates a novel locus at 3q28 among Caribbean hispanics with familial Alzheimer disease.

Lee JH, Cheng R, Santana V, Williamson J, Lantigua R, Medrano M, Arriaga A, Stern Y, Tycko B, Rogaeva E, Wakutani Y, Kawarai T, St George-Hyslop P, Mayeux R.

Arch Neurol. 2006 Nov;63(11):1591-8.

PMID:
17101828
17.

Does monosymptomatic enuresis exist? A molecular genetic exploration of 32 families with enuresis/incontinence.

Loeys B, Hoebeke P, Raes A, Messiaen L, De Paepe A, Vande Walle J.

BJU Int. 2002 Jul;90(1):76-83.

18.

Association of familial Duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22.

Cullen P, Rodgers CS, Callen DF, Connolly VM, Eyre H, Fells P, Gordon H, Winter RM, Thakker RV.

Am J Med Genet. 1993 Nov 1;47(6):925-30.

PMID:
8279492
19.

Duane syndrome in the setting of chromosomal duplications.

Smith SB, Traboulsi EI.

Am J Ophthalmol. 2010 Dec;150(6):932-8. doi: 10.1016/j.ajo.2010.06.030. Epub 2010 Oct 8.

PMID:
20933218
20.

Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome.

Abu-Amero KK, Kondkar A, Hellani AM, Oystreck DT, Khan AO, Bosley TM.

Ophthalmic Genet. 2015 Jun;36(2):99-104. doi: 10.3109/13816810.2013.835431. Epub 2013 Sep 3.

PMID:
24001015

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