| 1 | CES
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| Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype.
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| Kvarnung M, Lindstrand A, Malmgren H, Thåström A, Jacobson L, Dahl N, Lundin J, Blennow E.
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| Am J Med Genet A 158A(5):1111-7. doi: 10.1002/ajmg.a.35311. Epub 2012 Apr 11.
2012
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| 2 | ATP6V1E1, CECR2, CES, SLC25A18
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| A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.
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| Knijnenburg J, van Bever Y, Hulsman LO, van Kempen CA, Bolman GM, van Loon RL, Beverloo HB, van Zutven LJ.
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| Eur J Hum Genet 20(9):986-9. doi: 10.1038/ejhg.2012.43. Epub 2012 Mar 7.
2012
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| 3 | CECR2, CES
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| A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.
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| Knijnenburg J, van Bever Y, Hulsman LO, van Kempen CA, Bolman GM, van Loon RL, Beverloo HB, van Zutven LJ.
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| Eur J Hum Genet 20(9):986-9. doi: 10.1038/ejhg.2012.43. Epub 2012 Mar 7.
2012
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| 4 | CECR2, CES
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| Cecr2 mutations causing exencephaly trigger misregulation of mesenchymal/ectodermal transcription factors.
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| Fairbridge NA, Dawe CE, Niri FH, Kooistra MK, King-Jones K, McDermid HE.
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| Birth Defects Res A Clin Mol Teratol 88(8):619-25. doi: 10.1002/bdra.20695.
2010
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| 5 | CES, DUP22Q11
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| Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome.
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| Jezela-Stanek A, Dobrzañska A, Maksym-Gasiorek D, Trzeciakowski W, Gutkowska A, Olczak-Kowalczyk D, Gajdulewicz M, Spodar K, Czech-Kowalska J, Krajewska-Walasek M.
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| Clin Dysmorphol 18(1):13-7.
2009
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| 6 | CES, INVDUP15, INVDUPDEL8P
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| Inverted duplications deletions: underdiagnosed rearrangements??
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| Zuffardi O, Bonaglia M, Ciccone R, Giorda R.
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| Clin Genet 75(6):505-13. 2009
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| 7 | CES, DUP22Q11
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| Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome.
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| Raca G, Schimmenti L, Martin CL.
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| Am J Med Genet A 146(3):401-4. No abstract available. 2008
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| 8 | CES, DUP22Q11
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| Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome.
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| Belien V, Gerard-Blanluet M, Serero S, Le Du N, Baumann C, Jacquemont ML, Dupont C, Krabchi K, Drunat S, Elbez A, Janaud JC, Benzacken B, Verloes A, Tabet AC, Aboura A.
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| Am J Med Genet A 146A(14):1871-4. 2008
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| 9 | CES, DER22S, SMC22
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| FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22).
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| Bartsch O, Rasi S, Hoffmann K, Blin N.
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| Eur J Hum Genet 13(5):592-8. 2005
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| 10 | CES, DUP22Q11
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| Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome.
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| Meins M, Burfeind P, Motsch S, Trappe R, Bartmus D, Langer S, Speicher MR, Muhlendyck H, Bartels I, Zoll B.
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| J Med Genet 40(5):e62. Review. No abstract available. 2003
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| 11 | CES, DER22S, INVDUP15, SMC15, SMC22
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| Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.
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| Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T.
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| Hum Genet 114(1):51-67. Epub 2003 Sep 16. 2003
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| 12 | DEL22Q11, DUP22Q11, DER22S, CES
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| Genomic disorders on 22q11.
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| McDermid HE, Morrow BE.
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| Am J Hum Genet 70(5):1077-88. Epub 2002 Mar 29. Review. 2002
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| 13 | CES
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| Phenotypic variability of Cat-Eye syndrome.
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| Berends MJ, Tan-Sindhunata G, Leegte B, van Essen AJ.
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| Genet Couns 12(1):23-34. Review. 2001
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| 14 | ADA2, ATP6V1E1, BID, CECR2, CECR3, CECR4, CECR5, CECR6, CECR7, CECR8, CECR9, CES, SLC25A18
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| Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere.
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| Footz TK, Brinkman-Mills P, Banting GS, Maier SA, Riazi MA, Bridgland L, Hu S, Birren B, Minoshima S, Shimizu N, Pan H, Nguyen T, Fang F, Fu Y, Ray L, Wu H, Shaull S, Phan S, Yao Z, Chen F, Huan A, Hu P, Wang Q, Loh P, Qi S, Roe BA, McDermid HE.
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| Genome Res 11(6):1053-70. 2001
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| 15 | CES
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| Phenotypic variability of the cat eye syndrome. Case report and review of the literature.
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| Rosias PR, Sijstermans JM, Theunissen PM, Pulles-Heintzberger CF, De Die-Smulders CE, Engelen JJ, Van Der Meer SB.
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| Genet Couns 12(3):273-82. Review. 2001
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| 16 | ADA2, CES
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| The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome.
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| Riazi MA, Brinkman-Mills P, Nguyen T, Pan H, Phan S, Ying F, Roe BA, Tochigi J, Shimizu Y, Minoshima S, Shimizu N, Buchwald M, McDermid HE.
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| Genomics 64(3):277-85. 2000
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| 17 | CES
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| A 1.5-Mb contig within the cat eye syndrome critical region at human chromosome 22q11.2.
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| Johnson A, et al.
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| Genomics 57(2):306-9. 1999
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| 18 | CES
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| Ring 22 duplication/deletion mosaicism: clinical, cytogenetic, and molecular characterisation.
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| Frizzley JK, Stephan MJ, Lamb AN, Jonas PP, Hinson RM, Moffitt DR, Shkolny DL, McDermid HE.
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| J Med Genet 36(3):237-41. 1999
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| 19 | CES, DER22S, SMC22
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| A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes.
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| Crolla JA, Howard P, Mitchell C, Long FL, Dennis NR.
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| Am J Med Genet 72(4):440-7. 1997
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| 20 | CES
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| Long-range mapping and construction of a YAC contig within the Cat Eye syndrome critical region.
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| McDermid HE, et al.
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| Genome Res 6 : 1149-1159. 1996
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| 21 | CES
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| Molecular characterization of the marker chromosome associated with cat eye syndrome.
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| Mears AJ, et al.
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| Am J Hum Genet 55 : 134-142. 1994
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| 22 | CES, DEL22Q11
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| Genetic characterization of the DiGeorge and cat eye syndromes.
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| Demczuk S, et al.
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| Am J Hum Genet 51 : A78. 1992
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| 23 | CES
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| Mapping of a chromosome 22 rearrangement in a cat eye syndrome patient.
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| Mears AJ, et al.
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| Am J Hum Genet 47 : A257. 1990
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| 24 | CES, D22S9
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| Characterization of the supernumerary chromosome in cat eye syndrome.
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| McDermid HE, et al.
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| Science 232 : 646-648. 1986
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| 25 | CES
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| Breakpoint localization of the marker chromosome associated with the Cat eye syndrome.
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| Duncan AMV, et al.
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| Am J Hum Genet 38 : 978-980. 1986
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| 26 | CES, D22S1
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| Chromosome 22 is involved in cat eye syndrome as demonstrated by in situ hybridization.
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| Mattei MG, et al.
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| (HGM8) Cytogenet Cell Genet 40 : 693. 1985
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| 27 | CES
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| The cat eye syndrome: dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.
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| Schinzel A, Schmid W, Fraccaro M, Tiepolo L, Zuffardi O, Opitz JM, Lindsten J, Zetterqvist P, Enell H, Baccichetti C, Tenconi R, Pagon RA.
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| Hum Genet 57(2):148-58. 1981
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