Detalhe da pesquisa
1.
Pituitary stalk duplication in association with moya moya disease and bilateral morning glory disc anomaly - broadening the clinical spectrum of midline defects.
J Neurol
; 255(6): 885-90, 2008 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-18350354
2.
Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature.
Ophthalmic Genet
; 39(1): 51-55, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-28885867
3.
Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3.
J Med Genet
; 43(3): e11, 2006 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-16525029
4.
Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28.
J Med Genet
; 43(6): e27, 2006 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-16740911
5.
Idiopathic macular hypoplasia: a report of four cases and refinement of the phenotype of so-called ateliotic macula.
Eur J Ophthalmol
; 16(5): 741-4, 2006.
Artigo
Inglês
| MEDLINE | ID: mdl-17061227
6.
Associated systemic and ocular disorders in patients with congenital unilateral cataracts: the Infant Aphakia Treatment Study experience.
Eye (Lond)
; 30(9): 1170-4, 2016 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-27315350
7.
Histopathology of the Retina from a Three Year-Old Suspected to Have Joubert Syndrome.
Austin J Clin Ophthalmol
; 2(4)2015.
Artigo
Inglês
| MEDLINE | ID: mdl-27747301
8.
A comparative histologic study of the fibrillin microfibrillar system in the lens capsule of normal subjects and subjects with Marfan syndrome.
Invest Ophthalmol Vis Sci
; 39(1): 84-93, 1998 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-9430549
9.
Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance.
Am J Med Genet
; 99(3): 185-9, 2001 Mar 15.
Artigo
Inglês
| MEDLINE | ID: mdl-11241487
10.
Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia.
Am J Med Genet
; 24(1): 95-100, 1986 May.
Artigo
Inglês
| MEDLINE | ID: mdl-3085500
11.
Dominant syndrome with isolated cryptophthalmos and ocular anomalies.
Am J Med Genet
; 43(5): 785-8, 1992 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-1642262
12.
Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome?
Am J Med Genet
; 83(2): 82-7, 1999 Mar 12.
Artigo
Inglês
| MEDLINE | ID: mdl-10190477
13.
Hepatoblastoma, pigmented ocular fundus lesions and jaw lesions in Gardner syndrome.
Am J Med Genet
; 29(2): 323-32, 1988 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-3354603
14.
Hereditary pigmented paravenous chorioretinal atrophy.
Arch Ophthalmol
; 104(11): 1636-40, 1986 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-3778279
15.
Peters' anomaly and associated congenital malformations.
Arch Ophthalmol
; 110(12): 1739-42, 1992 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-1463415
16.
Autosomal dominant vitreoretinochoroidopathy. Report of the third family.
Arch Ophthalmol
; 111(2): 194-6, 1993 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-8431155
17.
A family with the Bardet-Biedl syndrome and diabetes mellitus.
Arch Ophthalmol
; 107(6): 855-7, 1989 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-2730406
18.
Cutaneous malignant melanoma in survivors of heritable retinoblastoma.
Arch Ophthalmol
; 106(8): 1059-61, 1988 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-3041943
19.
A new syndrome of myelinated nerve fibers, vitreoretinopathy, and skeletal malformations.
Arch Ophthalmol
; 111(11): 1543-5, 1993 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-8240111
20.
Olivopontocerebellar atrophy with retinal degeneration. A clinical and ocular histopathologic study.
Arch Ophthalmol
; 106(6): 801-6, 1988 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-3163477