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Items: 1 to 20 of 357

1.

The phenotypic spectrum of baraitser-winter syndrome: a new case and review of literature.

Ganesh A, Al-Kindi A, Jain R, Raeburn S.

J AAPOS. 2005 Dec;9(6):604-6.

PMID:
16414535
3.

Colobomas of the iris and choroid and high signal intensity cerebral foci on T2-weighted magnetic resonance images in Klinefelter's syndrome.

Boettger MB, Kirchhof K, Sergi C, Sakmann C, Meyer P.

J Pediatr Ophthalmol Strabismus. 2004 Jul-Aug;41(4):247-8.

PMID:
15305539
4.

A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia.

Shiihara T, Maruyama K, Yamada Y, Nishimura A, Matsumoto N, Kato M, Sakazume S.

Brain Dev. 2010 Jun;32(6):502-5. doi: 10.1016/j.braindev.2009.04.015. Epub 2009 May 23.

PMID:
19477093
5.
6.

[LEOPARD syndrome with iris-retina-choroid coloboma. Discordant findings in monozygotic twins (MIM # 151 100)].

Rudolph G, Haritoglou C, Kalpadakis P, Boergen KP, Meitinger T.

Ophthalmologe. 2001 Nov;98(11):1101-3. German.

PMID:
11729745
8.

Ptosis, coloboma, hypertelorism and mental retardation.

Warburg M.

Genet Couns. 1993;4(1):69-70. No abstract available.

PMID:
8471225
9.

Focal dermal hypoplasia (Goltz's syndrome).

Gündüz K, Günalp I, Erden I.

Ophthalmic Genet. 1997 Sep;18(3):143-9.

PMID:
9361312
10.
11.

Blepharophimosis syndrome: association with colobomatous microphthalmos.

Lee LR, Sullivan TJ.

Aust N Z J Ophthalmol. 1995 May;23(2):145-7.

PMID:
7546691
12.

[Ocular signs of trisomy 13. General review].

Cordier J, Reny A, Kahn N.

Adv Ophthalmol. 1971;24(0):174-202. Review. French. No abstract available.

PMID:
5006098
13.

Ocular and systemic findings associated with optic disc colobomas.

Berk AT, Yaman A, Saatçi AO.

J Pediatr Ophthalmol Strabismus. 2003 Sep-Oct;40(5):272-8.

PMID:
14560834
14.

[Short stature, mental retardation, type I preaxial polydactyly with colobomatous abnormalities: a new syndrome].

Pfeiffer RA, Mayer U.

Klin Monbl Augenheilkd. 1987 Dec;191(6):473-7. German.

PMID:
3441111
15.

Optic nerve hypoplasia and colobomatous defects.

Brown GC.

J Pediatr Ophthalmol Strabismus. 1982 Mar-Apr;19(2):90-3.

PMID:
7097465
16.
17.

Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome.

Mégarbané A, Le Merrer M, el Kallab K.

Clin Dysmorphol. 1997 Jul;6(3):239-44.

PMID:
9220194
18.
19.

Colobomatous malformations of the ocular globe.

Francois J.

Int Ophthalmol Clin. 1968 Winter;8(4):797-816. No abstract available.

PMID:
4984821
20.

Brief Clinical Report: coloboma hypospadias.

Halal F, Farsky K.

Am J Med Genet. 1981;8(1):53-8.

PMID:
7246606
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