LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population
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R. Kaneva | M. Juan | P. Majumder | D. Mackey | L. Kalaydjieva | H. Soodyall | B. Morar | H. Padh | M. López-Nevot | J. Aróstegui | S. Chakrabarti | I. Tournev | L. Angelova | D. Azmanov | S. Cherninkova | D. Draganov | V. Chernodrinska | B. Anguelov | Laura Florez | Rosmawati Saat | S. Dimitrova | S. Ganguly
[1] S. Blanton,et al. A homozygous mutation in LTBP2 causes isolated microspherophakia , 2010, Human Genetics.
[2] M. Abramowicz,et al. LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma , 2010, European Journal of Human Genetics.
[3] J. Escribano,et al. Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open‐angle glaucoma , 2010, Clinical genetics.
[4] M. Ingelman-Sundberg,et al. Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. , 2010, Investigative ophthalmology & visual science.
[5] Seyed Hassan Paylakhi,et al. Variable expressivity and high penetrance of CYP1B1 mutations associated with primary congenital glaucoma. , 2009, Ophthalmology.
[6] Seyed Hassan Paylakhi,et al. Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma. , 2009, Human molecular genetics.
[7] R. Dada,et al. Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients , 2009, Molecular vision.
[8] D. Mackey,et al. Null mutations in LTBP2 cause primary congenital glaucoma. , 2009, American journal of human genetics.
[9] C. Béroud,et al. Human Splicing Finder: an online bioinformatics tool to predict splicing signals , 2009, Nucleic acids research.
[10] Carmen Ayuso,et al. CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability , 2009, Molecular vision.
[11] S. Riazuddin,et al. Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families , 2008, Molecular vision.
[12] R. Kaneva,et al. Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies , 2008, Clinical genetics.
[13] P. Dureau. Pathophysiology of zonular diseases , 2008, Current opinion in ophthalmology.
[14] D. Mackey,et al. Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma , 2007, Clinical genetics.
[15] G. Marfany,et al. Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations. , 2007, Molecular vision.
[16] L. Kalaydjieva,et al. Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates. , 2007, Genetic testing.
[17] P. Majumder,et al. Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds. , 2006, Investigative ophthalmology & visual science.
[18] Hua Tang,et al. A newly discovered founder population: the Roma/Gypsies. , 2005, BioEssays : news and reviews in molecular, cellular and developmental biology.
[19] S. Hasnain,et al. Myocilin gene implicated in primary congenital glaucoma , 2005, Clinical genetics.
[20] S. Hasnain,et al. Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India. , 2005, Molecular vision.
[21] Mark Daly,et al. Haploview: analysis and visualization of LD and haplotype maps , 2005, Bioinform..
[22] Jeff P. Reeve,et al. Mutation history of the roma/gypsies. , 2004, American journal of human genetics.
[23] S. Hasnain,et al. Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients. , 2004, Molecular vision.
[24] D. Walton,et al. Primary congenital glaucoma: 2004 update. , 2004, Journal of pediatric ophthalmology and strabismus.
[25] James T. Elder,et al. Primary trabeculodysgenesis in association with neonatal Marfan syndrome , 2004, American journal of medical genetics. Part A.
[26] S. Hasnain,et al. Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma. , 2004, Investigative ophthalmology & visual science.
[27] James T. Elder,et al. Primary infantile glaucoma in an Australian population , 2004, Clinical & experimental ophthalmology.
[28] V. Ferák,et al. Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset , 1982, Human Genetics.
[29] J. Schenkman,et al. Genetics and biochemistry of primary congenital glaucoma. , 2003, Ophthalmology clinics of North America.
[30] S. Girirajan,et al. Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India , 2003, Journal of medical genetics.
[31] N. Risch,et al. Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection. , 2003, American journal of human genetics.
[32] M. Sarfarazi,et al. The Third Genetic Locus (GLC3C) for Primary Congenital Glaucoma (PCG) Maps to Chromosome 14q24.3 , 2002 .
[33] D. Russell,et al. Clinical importance of the cytochromes P450 , 2002, The Lancet.
[34] Bruce Rannala,et al. DMLE+: Bayesian linkage disequilibrium gene mapping , 2002, Bioinform..
[35] A. Pérez-Lezaun,et al. The P28T Mutation in the GALK1 Gene Accounts for Galactokinase Deficiency in Roma (Gypsy) Patients across Europe , 2002, Pediatric Research.
[36] Y. Buys,et al. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. , 2002, American journal of human genetics.
[37] P. Underhill,et al. Origins and divergence of the Roma (gypsies). , 2001, American journal of human genetics.
[38] I. Stoilov. Cytochrome P450s: coupling development and environment. , 2001, Trends in genetics : TIG.
[39] P. Donnelly,et al. A new statistical method for haplotype reconstruction from population data. , 2001, American journal of human genetics.
[40] Warren C. Lathe,et al. Prediction of deleterious human alleles. , 2001, Human molecular genetics.
[41] H. Vézina,et al. New estimates of intergenerational time intervals for the calculation of age and origins of mutations. , 2000, American journal of human genetics.
[42] V. Ferák,et al. Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma , 1999, Journal of medical genetics.
[43] M. Sarfarazi,et al. A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. , 1996, Human molecular genetics.
[44] M. Sarfarazi,et al. Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. , 1995, Genomics.
[45] C. Enger,et al. Glaucoma in the Marfan syndrome. , 1992, Transactions of the American Ophthalmological Society.
[46] J. Zlotogora,et al. Selection in favor of lysosomal storage disorders? , 1988, American journal of human genetics.
[47] V. P. deLuise,et al. Primary infantile glaucoma (congenital glaucoma). , 1983, Survey of ophthalmology.