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2. A small deletion of 16q23.1-->16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348-, P5432+)] in a boy with iris coloboma and minor anomalies. Werner W; Kraft S; Callen DF; Bartsch O; Hinkel GK Am J Med Genet; 1997 Jun; 70(4):371-6. PubMed ID: 9182777 [TBL] [Abstract][Full Text] [Related]
3. Parental origin of the extra chromosome in the cat eye syndrome: evidence from heteromorphism and in situ hybridization analysis. Magenis RE; Sheehy RR; Brown MG; McDermid HE; White BN; Zonana J; Weleber R Am J Med Genet; 1988 Jan; 29(1):9-19. PubMed ID: 3344779 [TBL] [Abstract][Full Text] [Related]
4. [Coloboma of the iris and anal atresia. Cat eye syndrome. Schmid-Fraccaro's syndrome]. Vestermark S Ugeskr Laeger; 1975 Oct; 137(43):2525. PubMed ID: 1189049 [No Abstract] [Full Text] [Related]
5. Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23. Jewett T; Rao PN; Weaver RG; Stewart W; Thomas IT; Pettenati MJ Am J Med Genet; 1993 Dec; 47(8):1147-50. PubMed ID: 8291545 [TBL] [Abstract][Full Text] [Related]
6. Ocular abnormalities in deletion of the long arm of chromosome 11. Ferry AP; Marchevsky A; Strauss L Ann Ophthalmol; 1981 Dec; 13(12):1373-7. PubMed ID: 6802056 [No Abstract] [Full Text] [Related]
7. Ocular manifestations in Wolf-Hirschhorn syndrome. Dickmann A; Parrilla R; Salerni A; Savino G; Vasta I; Zollino M; Petroni S; Zampino G J AAPOS; 2009 Jun; 13(3):264-7. PubMed ID: 19541266 [TBL] [Abstract][Full Text] [Related]
8. Ophthalmic manifestations of Smith-Magenis syndrome. Chen RM; Lupski JR; Greenberg F; Lewis RA Ophthalmology; 1996 Jul; 103(7):1084-91. PubMed ID: 8684798 [TBL] [Abstract][Full Text] [Related]
9. [Morphological and functional findings in a family with aniridia (author's transl)]. Weber U; Petersen J Klin Monbl Augenheilkd; 1981 Jun; 178(6):439-45. PubMed ID: 6973663 [TBL] [Abstract][Full Text] [Related]
10. Terminal long arm deletion of chromosome 7 and retino-choroidal coloboma. Taysi K; Burde RM; Rohrbaugh JR Ann Genet; 1982; 25(3):159-61. PubMed ID: 6982666 [TBL] [Abstract][Full Text] [Related]
11. Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. Ramer JC; Lin AE; Dobyns WB; Winter R; Aymé S; Pallotta R; Ladda RL Am J Med Genet; 1995 Jul; 57(3):403-9. PubMed ID: 7545868 [TBL] [Abstract][Full Text] [Related]
13. The significance of atypical colobomata and defects of the iris for the diagnosis of the hereditary aniridia syndrome (author's transl). Delleman JW; Winkelman JE Klin Monbl Augenheilkd; 1973 Nov; 163(5):528-42. PubMed ID: 4782857 [No Abstract] [Full Text] [Related]
14. Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome. Fujita H; Meng J; Kawamura M; Tozuka N; Ishii F; Tanaka N Am J Med Genet; 1992 Nov; 44(4):434-6. PubMed ID: 1442882 [TBL] [Abstract][Full Text] [Related]
15. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2. Pallotta R J Med Genet; 1991 May; 28(5):342-4. PubMed ID: 1865474 [TBL] [Abstract][Full Text] [Related]
16. Brief Clinical Report: coloboma hypospadias. Halal F; Farsky K Am J Med Genet; 1981; 8(1):53-8. PubMed ID: 7246606 [TBL] [Abstract][Full Text] [Related]
17. The "cat eye" syndrome--report of a case with hypothyroidism. Ioan D; Dumitriu L; Fabriţius K; Simescu M; Maximilian C Endocrinologie; 1986; 24(2):129-31. PubMed ID: 3738402 [TBL] [Abstract][Full Text] [Related]
18. Eye abnormalities in the Smith-Magenis contiguous gene deletion syndrome. Finucane BM; Jaeger ER; Kurtz MB; Weinstein M; Scott CI Am J Med Genet; 1993 Feb; 45(4):443-6. PubMed ID: 8465847 [TBL] [Abstract][Full Text] [Related]
19. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. Baraitser M; Winter RM J Med Genet; 1988 Jan; 25(1):41-3. PubMed ID: 3351890 [TBL] [Abstract][Full Text] [Related]
20. Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion. Wieczorek D; Krause M; Majewski F; Albrecht B; Horn D; Riess O; Gillessen-Kaesbach G Eur J Hum Genet; 2000 Jul; 8(7):519-26. PubMed ID: 10909852 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]