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Phenotypic variability of the cat eye syndrome. Case report and review of the literature. [Genet Couns. 2001]
Phenotypic variability of the cat eye syndrome. Case report and review of the literature.
Rosias PR, Sijstermans JM, Theunissen PM, Pulles-Heintzberger CF, De Die-Smulders CE, Engelen JJ, Van Der Meer SB. Genet Couns. 2001; 12(3):273-82.
Phenotypic variability of Cat-Eye syndrome. [Genet Couns. 2001]
Phenotypic variability of Cat-Eye syndrome.
Berends MJ, Tan-Sindhunata G, Leegte B, van Essen AJ. Genet Couns. 2001; 12(1):23-34.
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. [Genome Res. 2001]
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.
Footz TK, Brinkman-Mills P, Banting GS, Maier SA, Riazi MA, Bridgland L, Hu S, Birren B, Minoshima S, Shimizu N, et al. Genome Res. 2001 Jun; 11(6):1053-70.

22 free full-text articles in PubMed Central

A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma. [Mol Syndromol. 2012]
A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma.
Córdova-Fletes C, Domínguez MG, Vázquez-Cárdenas A, Figuera LE, Neira VA, Rojas-Martínez A, Ortiz-López R. Mol Syndromol. 2012 Sep; 3(3):131-135. Epub 2012 Aug 1.
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene. [Korean J Pediatr. 2010]
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene.
Choi WI, Kim JH, Yoo HW, Oh SH. Korean J Pediatr. 2010 Dec; 53(12):1018-21. Epub 2010 Dec 31.
Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome. [J Korean Med Sci. 2010]
Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome.
Ko JM, Kim JB, Pai KS, Yun JN, Park SJ. J Korean Med Sci. 2010 Dec; 25(12):1798-801. Epub 2010 Nov 24.