Published in Clin Genet on January 06, 2010
Genetics of anterior segment dysgenesis disorders. Curr Opin Ophthalmol (2011) 1.34
Using protein design algorithms to understand the molecular basis of disease caused by protein-DNA interactions: the Pax6 example. Nucleic Acids Res (2010) 1.16
A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family. Mol Vis (2011) 0.92
Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations. Mol Vis (2012) 0.90
Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients. Dev Biol (2015) 0.87
A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia. Mol Vis (2012) 0.86
A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family. Mol Vis (2012) 0.85
Demographic features of subjects with congenital glaucoma. Indian J Ophthalmol (2014) 0.84
The functional role of the Meis/Prep-binding elements in Pax6 locus during pancreas and eye development. Dev Biol (2012) 0.84
11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia. J Appl Genet (2013) 0.80
Absence of NR2E1 mutations in patients with aniridia. Mol Vis (2012) 0.80
Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China. Mol Vis (2012) 0.78
PAX6 analysis of one family and one sporadic patient from southern China with classic aniridia. Mol Vis (2011) 0.78
Assessment of PAX6 alleles in 66 families with aniridia. Clin Genet (2016) 0.77
A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma. PLoS One (2016) 0.77
Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia. Mol Vis (2015) 0.76
Analysis of FOXD3 sequence variation in human ocular disease. Mol Vis (2012) 0.76
A large novel deletion downstream of PAX6 gene in a Chinese family with ocular coloboma. PLoS One (2013) 0.76
Mutation analysis of paired box 6 gene in inherited aniridia in northern China. Mol Vis (2013) 0.76
Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia. Indian J Ophthalmol (2017) 0.75
A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities. Sci Rep (2014) 0.75
Treatment of congenital aniridia associated with subluxated infantile cataract. Med Arch (2014) 0.75
Analysis of corneal morphologic and pathologic changes in early-stage congenital aniridic keratopathy. Int J Ophthalmol (2017) 0.75
Idiopathic, isolated fovea plana with bilateral off-centre multifocal ERGs. Doc Ophthalmol (2013) 0.75
Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nat Genet (1996) 3.13
Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21. Genomics (1989) 2.16
Non-disjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination. Hum Mol Genet (1994) 2.07
Origin and mechanisms of non-disjunction in human autosomal trisomies. Hum Reprod (1998) 1.81
The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms. Am J Hum Genet (1992) 1.67
Non-disjunction of chromosome 18. Hum Mol Genet (1998) 1.62
Mitochondrial deafness. Clin Genet (2007) 1.61
Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21. Hum Mol Genet (1997) 1.57
Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction. Clin Genet (1999) 1.44
Patterns of meiotic recombination on the long arm of human chromosome 21. Genome Res (2000) 1.40
Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21. Am J Hum Genet (1992) 1.38
Interstitial deletion 1p in a 30 year old woman. J Med Genet (1987) 1.29
Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations. Am J Hum Genet (1990) 1.27
A linkage map of human chromosome 21:43 PCR markers at average intervals of 2.5 cM. Genomics (1993) 1.26
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. Clin Genet (2008) 1.21
Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county. Am J Med Genet (1995) 1.21
Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination. Hum Mol Genet (1998) 1.12
Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat. Genomics (1990) 1.08
New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q. J Med Genet (1987) 1.04
High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis. Clin Genet (2011) 1.03
Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome. Am J Med Genet (1999) 1.03
Prenatal diagnosis of hypochondroplasia: report of two cases. Am J Med Genet A (2006) 1.01
A report of pure 7p duplication syndrome and review of the literature. Am J Med Genet A (2006) 0.98
Comparative study of bactericidal activities, postantibiotic effects, and effects of bacterial virulence of penicillin G and six macrolides against Streptococcus pneumoniae. Antimicrob Agents Chemother (1997) 0.98
Scratch induction in the rat by intradermal serotonin: a model for pruritus. Acta Derm Venereol (2001) 0.98
Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18. J Med Genet (1999) 0.97
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism. Eur J Hum Genet (1999) 0.97
Clinical variability of genetic isolates of Cohen syndrome. Clin Genet (2011) 0.96
Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q. J Med Genet (1992) 0.96
DNA polymorphism analysis in families with recurrence of free trisomy 21. Am J Hum Genet (1992) 0.95
Molecular cytogenetic characterization and origin of two de novo duplication 9p cases. Am J Med Genet (2000) 0.93
"Compensatory" uniparental disomy of chromosome 21 in two cases. J Med Genet (1994) 0.92
High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness. Clin Genet (1999) 0.91
BRCA1 mutation analysis in breast/ovarian cancer families from Greece. Hum Mutat (2000) 0.91
D21S215 is a (GT)n polymorphic marker close to centromeric alphoid sequences on chromosome 21. Genomics (1992) 0.89
Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans. Hum Mol Genet (1998) 0.89
Application of molecular and cytogenetic techniques to the detection of a de novo unbalanced t(11q;21q) in a patient previously diagnosed as having monosomy 21. Clin Genet (1993) 0.89
Pseudodicentric chromosome 18 diagnosed by chromosome painting and primed in situ labelling (PRINS). J Med Genet (1994) 0.89
Apolipoprotein E allele distribution in parents of Down's syndrome children. Lancet (1996) 0.89
Rare chromosome 20 variants encountered during prenatal diagnosis. Prenat Diagn (1986) 0.88
Apolipoprotein E and presenilin-1 genotypes in Huntington's disease. J Neurol (1999) 0.87
Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome. Hum Mutat (2001) 0.86
Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter. Am J Med Genet (1997) 0.86
Prevalence of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations in a Greek population of blood donors. Am J Hematol (1999) 0.86
Apolipoprotein E epsilon4 allele as a genetic risk factor for left ventricular failure in homozygous beta-thalassemia. Blood (1998) 0.86
Linkage mapping of highly informative DNA polymorphisms within the human interferon-alpha receptor gene on chromosome 21. Genomics (1991) 0.86
A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients. Am J Hum Genet (1991) 0.85
Status at two years in 121 very low birth weight survivors related to neonatal intraventricular haemorrhage and mode of delivery. Acta Paediatr Scand (1986) 0.85
A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis. Prenat Diagn (2002) 0.85
Monozygotic twins discordant for gastroschisis: case report and review of the literature of twins and familial occurrence of gastroschisis. Am J Med Genet (1994) 0.85
Measuring patient satisfaction: collecting useful data. J Nurs Qual Assur (1988) 0.84
Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype. Am J Med Genet (2000) 0.84
Exercise training favors increased insulin-stimulated glucose uptake in skeletal muscle in contrast to adipose tissue: a randomized study using FDG PET imaging. Am J Physiol Endocrinol Metab (2013) 0.83
Refining the primary open-angle glaucoma GLC1C region on chromosome 3 by haplotype analysis. Clin Genet (2004) 0.83
Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree. Eur J Hum Genet (2001) 0.83
Increased resistance to activated protein C and factor V Leiden in recurrent abortions. Review of other hypercoagulability factors. Eur J Contracept Reprod Health Care (1999) 0.83
Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization. Mol Med Rep (2010) 0.82
Trisomy 14 mosaicism in a 2 year old girl. J Med Genet (1986) 0.82
Growing skull fracture--rupture of coronal suture caused by vacuum extraction. Neuroradiology (1987) 0.82
Patient survival after total knee arthroplasty. 5-year data in 926 patients. Acta Orthop Scand (1998) 0.82
Prelingual nonsyndromic hearing loss in Greece. Molecular and clinical findings. ORL J Otorhinolaryngol Relat Spec (2002) 0.82
Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms. Hum Genet (1997) 0.81
FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population. Genet Epidemiol (1998) 0.81
Pentasomy 49,XXXXY diagnosed in utero: case report and systematic review of antenatal findings. Fetal Diagn Ther (2009) 0.81
Dinucleotide repeat (GT)n markers on chromosome 21. Genomics (1992) 0.80
In vitro activity of six macrolides, clindamycin and tetracycline on Streptococcus pneumoniae with different penicillin susceptibilities. APMIS (1996) 0.80
Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31. J Med Genet (1996) 0.80
A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region. Hum Genet (1997) 0.79
Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness. Hum Mutat (2000) 0.79
A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21. Hum Genet (1991) 0.79
Clinical features and molecular genetic analysis of a boy with Prader-Willi syndrome caused by an imprinting defect. Acta Paediatr (1997) 0.79
Rapid brain cooling in intubated pigs through nasal flushing with oxygen: prevention of brain hyperthermia. Acta Vet Scand (2001) 0.78
Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10;17) may indicate candidate gene regions. Clin Genet (1994) 0.78
Apolipoprotein E polymorphism in the Greek population. Clin Genet (1997) 0.78
Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21. Am J Med Genet (1993) 0.78
Cytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21q. Br J Haematol (1998) 0.77
Fatal congenital myopathy with actin filament deposits. Acta Neuropathol (1996) 0.77
Determination of the fructosamine concentration in bovine serum samples. Zentralbl Veterinarmed A (1993) 0.77
Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face. Cytogenet Genome Res (2006) 0.77
Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation. Prenat Diagn (2001) 0.77
Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies. Am J Med Genet (1994) 0.77
Intra-ventricular hemorrhage and method of delivery of very low birth weight infants. J Perinat Med (1983) 0.77
Does sulfation of gastrin influence gastric acid secretion in man? Scand J Gastroenterol (1990) 0.77
Genetic counseling of medullary breast cancer patients. Clin Genet (2004) 0.76
Tetrasomy 9p mosaicism associated with a normal phenotype in two cases. Cytogenet Genome Res (2012) 0.76
Highly polymorphic repeat marker within the beta-amyloid precursor protein gene. Hum Genet (1994) 0.76
[Prader-Willi syndrome--clinical picture and genetics]. Ugeskr Laeger (1995) 0.76
Genotyping of presenilin-1 polymorphism in amyotrophic lateral sclerosis. J Neurol (2000) 0.76
Pseudodominant inheritance of DFNB1 deafness due to the common 35delG mutation. Clin Genet (2000) 0.76
A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family. J Med Genet (2006) 0.76
A case of the ring 20 syndrome. Ann Genet (1989) 0.76
A patient with Edwards syndrome caused by a rare pseudodicentric chromosome 18 of paternal origin. Clin Genet (1997) 0.76
The vanishing twin: an explanation for discordance between chorionic villus karyotype and fetal phenotype. Prenat Diagn (1991) 0.76
Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis. Histopathology (2006) 0.76
Apolipoprotein E alleles in mothers of trisomy 18 conceptuses. Clin Genet (1998) 0.76
A case of apparent trisomy 21 without the Down's syndrome phenotype. J Med Genet (1997) 0.75
Investigation of a cluster of children with Down's syndrome born to mothers who had attended a school in Dundalk, Ireland. Occup Environ Med (2000) 0.75
[Anxiety as an indication for prenatal diagnosis--reasons and outcome of pregnancy]. Ugeskr Laeger (1986) 0.75
Fatty acid composition of subcutaneous adipose tissue in mother-infant pairs. Acta Paediatr Scand (1987) 0.75