Published in Am J Hum Genet on June 01, 1998
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Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. Am J Hum Genet (2008) 1.84
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. Hum Mutat (2010) 1.26
A novel locus for Leber congenital amaurosis maps to chromosome 6q. Am J Hum Genet (2000) 1.14
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Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa. BMC Med Genet (2010) 0.89
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RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease. J Med Genet (2000) 1.05
Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249. J Med Genet (2005) 1.05
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Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa. Hum Mutat (2001) 0.92
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Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa. Hum Mol Genet (1994) 0.89
Contribution of RET, NTRK3 and EDN3 to the expression of Hirschsprung disease in a multiplex family. J Med Genet (2009) 0.88
The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor. J Med Genet (2010) 0.88
The -670A > G polymorphism in the promoter region of the FAS gene is associated with necrosis in periportal areas in patients with chronic hepatitis C. J Viral Hepat (2005) 0.86
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Mutation analysis of GABRR1 and GABRR2 in autosomal recessive retinitis pigmentosa. J Med Genet (2000) 0.84
Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease. J Med Genet (2003) 0.83
Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population. Clin Endocrinol (Oxf) (2001) 0.83
Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus. J Med Genet (2001) 0.82
High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain. J Med Genet (1999) 0.82
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[Intrauterine myelomeningocele repair: experience of the fetal medicine and therapy program of the Virgen de Rocío University Hospital]. Rev Esp Anestesiol Reanim (2012) 0.80
Spectrofluorimetric analysis of CCR5-delta 32 allele using real-time polymerase chain reaction: prevalence in southern Spanish HIV(+) patients and noninfected population. AIDS Res Hum Retroviruses (2001) 0.79
Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation. J Med Genet (1996) 0.79
Analysis of the -844C > T polymorphism in the promoter region of FASLgene in a cohort of Spanish HCV patients. J Viral Hepat (2007) 0.79
Polymorphisms in the promoter regions of FAS and FASL genes as candidate genetic factors conferring susceptibility to endometriosis. Int J Mol Med (2005) 0.78
A novel null mutation in the rhodopsin gene causing late onset autosomal dominant retinitis pigmentosa. Hum Mutat (1996) 0.78
G106R rhodopsin mutation is also present in Spanish ADRP patients. Ophthalmic Genet (1996) 0.78
Novel technique for scanning of codon 634 of the RET protooncogene with fluorescence resonance energy transfer and real-time PCR in patients with medullary thyroid carcinoma. Clin Chem (2001) 0.77
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Spanish family with myalgia and cramps syndrome. J Neurol Neurosurg Psychiatry (2005) 0.77
Analysis of the involvement of CCR5-Delta32 and CCR2-V64I variants in the development of endometriosis. Mol Hum Reprod (2004) 0.76
Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa. Hum Mutat (1996) 0.76
Evaluation of germline sequence variants within the promoter region of RANTES gene in a cohort of women with endometriosis from Spain. Mol Hum Reprod (2003) 0.76
PCR mutagenesis-based method for generation of positive controls for SSCP analysis. Biotechniques (1997) 0.76
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Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W. J Med Genet (1997) 0.75
Identification of a novel polymorphism (IVS6-33C->G) and two novel rare variants (IVS6-42delT and IVS6-43delA) in RPE65 gene. Hum Mutat (2001) 0.75
Two additional ANLL cases with chromosome 3 rearrangements involving bands q21 and q26. Cancer Genet Cytogenet (1996) 0.75
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A new germline mutation, R600Q, within the coding region of RET proto-oncogene: a rare polymorphism or a MEN 2 causing mutation? Hum Mutat (2000) 0.75
Cys 634 mutations in the RET proto-oncogene in Spanish families affected by MEN 2A. Hum Mutat (1998) 0.75
Identification of two highly informative STRs (GT15-25) and (GT9-21 )within the critical region of RP25. Hum Mutat (2001) 0.75
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