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Items: 1 to 20 of 111

1.

Autosomal dominant simple microphthalmos.

Vingolo EM, Steindl K, Forte R, Zompatori L, Iannaccone A, Sciarra A, Del Porto G, Pannarale MR.

J Med Genet. 1994 Sep;31(9):721-5.

2.

Microphthalmos in a family.

Russell-Eggitt I, Fielder AR, Levene MI, Young ID.

Ophthalmic Paediatr Genet. 1985 Aug;6(1-2):361-8.

PMID:
4069598
3.

A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

Morlé L, Bozon M, Zech JC, Alloisio N, Raas-Rothschild A, Philippe C, Lambert JC, Godet J, Plauchu H, Edery P.

Am J Hum Genet. 2000 Dec;67(6):1592-7. Epub 2000 Oct 13.

4.

Biometric and molecular characterization of clinically diagnosed posterior microphthalmos.

Nowilaty SR, Khan AO, Aldahmesh MA, Tabbara KF, Al-Amri A, Alkuraya FS.

Am J Ophthalmol. 2013 Feb;155(2):361-372.e7. doi: 10.1016/j.ajo.2012.08.016. Epub 2012 Nov 3.

PMID:
23127749
5.

Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate.

Ravine D, Ragge NK, Stephens D, Oldridge M, Wilkie AO.

Am J Med Genet. 1997 Oct 17;72(2):227-36.

PMID:
9382148
6.

Simple microphthalmos.

Weiss AH, Kousseff BG, Ross EA, Longbottom J.

Arch Ophthalmol. 1989 Nov;107(11):1625-30.

PMID:
2818284
7.

Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos.

Khorram D, Choi M, Roos BR, Stone EM, Kopel T, Allen R, Alward WL, Scheetz TE, Fingert JH.

Mol Vis. 2015 Sep 1;21:1017-23. eCollection 2015.

8.

Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome.

Müllner-Eidenböck A, Moser E, Klebermass N, Amon M, Walter MC, Lochmüller H, Gooding R, Kalaydjieva L.

Ophthalmology. 2004 Jul;111(7):1415-23.

PMID:
15234148
9.

Visual acuity in children with coloboma: clinical features and a new phenotypic classification system.

Hornby SJ, Adolph S, Gilbert CE, Dandona L, Foster A.

Ophthalmology. 2000 Mar;107(3):511-20.

PMID:
10711890
10.

A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32.

Bessant DA, Khaliq S, Hameed A, Anwar K, Mehdi SQ, Payne AM, Bhattacharya SS.

Am J Hum Genet. 1998 May;62(5):1113-6.

11.

Nanophthalmos and acquired retinoschisis.

Dhrami-Gavazi E, Schiff WM, Barile GR.

Am J Ophthalmol. 2009 Jan;147(1):108-110.e1. doi: 10.1016/j.ajo.2008.07.045. Epub 2008 Oct 2.

PMID:
18834578
12.

Colobomatous macrophthalmia with microcornea syndrome: report of a new pedigree.

Toker E, Elcioglu N, Ozcan E, Yenice O, Ogut M.

Am J Med Genet A. 2003 Aug 15;121A(1):25-30.

PMID:
12900897
13.

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, Perveen R, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC.

Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9.

PMID:
15452077
14.

Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.

Lafaut BA, Loeys B, Leroy BP, Spileers W, De Laey JJ, Kestelyn P.

Graefes Arch Clin Exp Ophthalmol. 2001 Aug;239(8):575-82.

PMID:
11585313
15.

Isolated congenital nail dysplasia: a new autosomal dominant condition.

Hamm H, Karl S, Bröcker EB.

Arch Dermatol. 2000 Oct;136(10):1239-43.

PMID:
11030770
16.

Autosomal recessive nanophthalmos.

Altintaş AK, Acar MA, Yalvaç IS, Koçak I, Nurözler A, Duman S.

Acta Ophthalmol Scand. 1997 Jun;75(3):325-8.

17.

Hereditary high hypermetropia in the Faroe Islands.

Fuchs J, Holm K, Vilhelmsen K, Rosenberg T, Scherfig E, Fledelius HC.

Ophthalmic Genet. 2005 Mar;26(1):9-15.

PMID:
15823920
18.

Excessive hypermetropia: review and case report documented by echography.

Fried M, Meyer-Schwickerath G, Koch A.

Ann Ophthalmol. 1982 Jan;14(1):15-9.

PMID:
7125435
19.

Genetics of microphthalmos.

Warburg M.

Int Ophthalmol. 1981 Aug;4(1-2):45-65. Review.

PMID:
6795139
20.

Pervasive ocular anomalies in posterior microphthalmos.

Slotnick S, Fitzgerald DE, Sherman J, Krumholz DM.

Optometry. 2007 Feb;78(2):71-7.

PMID:
17258161

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