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42. Absence of lambda immunoglobulin sequences on the supernumerary chromosome of the "cat eye" syndrome. Hough CA; White BN; Holden JJ Am J Med Genet; 1995 Sep; 58(3):277-81. PubMed ID: 8533831 [TBL] [Abstract][Full Text] [Related]
44. 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]
45. FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22). Bartsch O; Rasi S; Hoffmann K; Blin N Eur J Hum Genet; 2005 May; 13(5):592-8. PubMed ID: 15756300 [TBL] [Abstract][Full Text] [Related]
46. FISH approach to determine cat eye syndrome chromosome breakpoints of a patient with cat eye syndrome type II. Gentile M; De Sanctis S; Cariola F; Spezzi T; Di Carlo A; Tontoli F; Lista F; Buonadonna AL Eur J Med Genet; 2005; 48(1):33-9. PubMed ID: 15953404 [TBL] [Abstract][Full Text] [Related]
47. [Bilateral colobomatous microphthalmus with orbital giant cysts in incomplete tetrasomy 22]. Lange W; Rochels R; Otte J; Schwinger E; Bartsch O Klin Monbl Augenheilkd; 1992 Jun; 200(6):671-3. PubMed ID: 1507792 [TBL] [Abstract][Full Text] [Related]
48. 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]
49. Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. McDonald-McGinn DM; Emanuel BS; Zackai EH Am J Med Genet; 1996 Aug; 64(3):525-6. PubMed ID: 8862635 [No Abstract] [Full Text] [Related]
50. [Colobomatous microphthalmos with cyst and 4 P- syndrome]. Baudet D; Defawe G; Le Marec B; Picard F; Nicaise A; Urvoy M Bull Soc Ophtalmol Fr; 1984 Jan; 84(1):67-8. PubMed ID: 6529828 [No Abstract] [Full Text] [Related]
51. 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. PubMed ID: 12147582 [TBL] [Abstract][Full Text] [Related]
52. Is the autosomal dominant Optiz GBBB syndrome part of the DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2? Wulfsberg EA Am J Med Genet; 1996 Aug; 64(3):523-4. PubMed ID: 8862634 [No Abstract] [Full Text] [Related]
54. What's your diagnosis? Bilateral ocular colobomas associated with trisomy 13 syndrome. Yeung H J Pediatr Ophthalmol Strabismus; 2008; 45(5):268, 312. PubMed ID: 18825898 [No Abstract] [Full Text] [Related]
55. [Coloboma of iris and choroid in a patient with XYY-syndrome]. Schwinger E; Wiebusch D Klin Monbl Augenheilkd; 1970; 156(6):873-7. PubMed ID: 4988416 [No Abstract] [Full Text] [Related]
56. Corneal involvement in autosomal dominant coloboma/microphthalmos. Pearce WG Can J Ophthalmol; 1986 Dec; 21(7):291-4. PubMed ID: 3801978 [TBL] [Abstract][Full Text] [Related]
58. De novo ring chromosome 3 in a girl with hypoplastic thumb and coloboma of iris. Barajas-Barajas LO; Velarde-Félix S; Elizarrarás-Rivas J; Hernández-Zaragoza G; Vázquez-Herrera JA Genet Couns; 2001; 12(2):151-6. PubMed ID: 11491310 [TBL] [Abstract][Full Text] [Related]