157 related articles for article (PubMed ID: 23613260)
1. Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2.
Salem NJ; Hempel M; Heiliger KJ; Hosie S; Meitinger T; Oexle K
Am J Med Genet A; 2013 Jun; 161A(6):1421-4. PubMed ID: 23613260
[TBL] [Abstract][Full Text] [Related]
2. Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature.
Salter CG; Baralle D; Collinson MN; Self JE
Am J Med Genet A; 2016 Apr; 170A(4):1017-22. PubMed ID: 26773965
[TBL] [Abstract][Full Text] [Related]
3. Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2.
Bardakjian TM; Kwok S; Slavotinek AM; Schneider AS
Am J Med Genet A; 2010 Dec; 152A(12):3120-3. PubMed ID: 21082658
[TBL] [Abstract][Full Text] [Related]
4. Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.
Bardakjian TM; Schneider AS; Ng D; Johnston JJ; Biesecker LG
BMC Med Genet; 2009 Dec; 10():137. PubMed ID: 20003547
[TBL] [Abstract][Full Text] [Related]
5. A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2.
Abouzeid H; Meire FM; Osman I; ElShakankiri N; Bolay S; Munier FL; Schorderet DF
Ophthalmology; 2009 Jan; 116(1):154-162.e1. PubMed ID: 19004499
[TBL] [Abstract][Full Text] [Related]
6. [Atypical cat eye syndrome. Fluorescence in situ hybridization of metaphase chromosomes].
Bartsch O; Aksu F; Fenner A; Schwinger E
Monatsschr Kinderheilkd; 1992 Aug; 140(8):460-3. PubMed ID: 1359403
[TBL] [Abstract][Full Text] [Related]
7. Identification of a possible association of JAK2 in development of microphthalmia, anophthalmia, and coloboma (MAC) complex in a child with 9p deletion and duplication.
Leung KCP; Ko TCS
Ophthalmic Genet; 2020 Aug; 41(4):373-376. PubMed ID: 32506980
[TBL] [Abstract][Full Text] [Related]
8. Seeing the diagnosis on karyotype-SOX2 and eye development.
Mulvihill J; Sarkar A; Dixit A
Ophthalmic Genet; 2017 Dec; 38(6):580-583. PubMed ID: 28635421
[No Abstract] [Full Text] [Related]
9. Prenatal Array-CGH Detection of 3q26.32q26.33 Interstitial Deletion Encompassing the
Bonasoni MP; Comitini G; Pati M; Bizzarri V; Barbieri V; Marinelli M; Caraffi SG; Zuntini R; Pollazzon M; Palicelli A; Garavelli L
Fetal Pediatr Pathol; 2023 Dec; 42(6):979-989. PubMed ID: 37747279
[No Abstract] [Full Text] [Related]
10. New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia.
Beby F; Commeaux C; Bozon M; Denis P; Edery P; Morlé L
Arch Ophthalmol; 2007 Feb; 125(2):213-6. PubMed ID: 17296897
[TBL] [Abstract][Full Text] [Related]
11. Typical and partial cat eye syndrome: identification of the marker chromosome by FISH.
Liehr T; Pfeiffer RA; Trautmann U
Clin Genet; 1992 Aug; 42(2):91-6. PubMed ID: 1424237
[TBL] [Abstract][Full Text] [Related]
12. Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia.
Bonneau D; Guichet A; Boussion F; Lépinard C; Biquard F; Descamps P
Am J Med Genet A; 2004 Dec; 131(2):204. PubMed ID: 15487011
[No Abstract] [Full Text] [Related]
13. Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles.
Serra G; Antona V; Giuffrè M; Piro E; Salerno S; Schierz IAM; Corsello G
Ital J Pediatr; 2022 Mar; 48(1):38. PubMed ID: 35246213
[TBL] [Abstract][Full Text] [Related]
14. 1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities.
Tyshchenko N; Hackmann K; Gerlach EM; Neuhann T; Schrock E; Tinschert S
Eur J Med Genet; 2009; 52(2-3):128-30. PubMed ID: 19298871
[TBL] [Abstract][Full Text] [Related]
15. Bilateral microphthalmos with colobomatous orbital cyst and de-novo balanced translocation t(3;5).
Kurbasic M; Jones FV; Cook LN
Ophthalmic Genet; 2000 Dec; 21(4):239-42. PubMed ID: 11135495
[TBL] [Abstract][Full Text] [Related]
16. Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31.
Bouman A; Knegt L; Gröschel S; Erpelinck C; Sanders M; Delwel R; Kuijpers T; Cobben JM
Am J Med Genet A; 2016 Feb; 170A(2):504-509. PubMed ID: 26554871
[TBL] [Abstract][Full Text] [Related]
17. Schmid-Fraccaro syndrome ("cat's eye" syndrome).
Petersen RA
Arch Ophthalmol; 1973 Oct; 90(4):287-91. PubMed ID: 4746642
[No Abstract] [Full Text] [Related]
18. Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes.
Reis LM; Tyler RC; Schneider A; Bardakjian T; Semina EV
Mol Vis; 2010 Apr; 16():768-73. PubMed ID: 20454695
[TBL] [Abstract][Full Text] [Related]
19. 14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly.
Piccione M; Serra G; Consiglio V; Di Fiore A; Cavani S; Grasso M; Malacarne M; Pierluigi M; Viaggi C; Corsello G
Am J Med Genet A; 2012 Jun; 158A(6):1427-33. PubMed ID: 22581785
[TBL] [Abstract][Full Text] [Related]
20. Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum.
Skalicky SE; White AJ; Grigg JR; Martin F; Smith J; Jones M; Donaldson C; Smith JE; Flaherty M; Jamieson RV
JAMA Ophthalmol; 2013 Dec; 131(12):1517-24. PubMed ID: 24177921
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
