Published in Acta Univ Carol Med Monogr on January 01, 1977
The origin of the major cystic fibrosis mutation (delta F508) in European populations. Nat Genet (1994) 4.94
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell (1998) 4.72
A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet (1993) 2.64
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros (2008) 2.56
Comparison of the clinical manifestations of cystic fibrosis in black and white patients. J Pediatr (1998) 1.97
A study of children of incestuous matings. Hum Hered (1971) 1.73
Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism. Nat Genet (2000) 1.63
Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros (2011) 1.54
Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder. Am J Med Genet (1985) 1.44
The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21. Am J Hum Genet (1997) 1.41
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13. Nat Genet (1999) 1.41
[Interstitial pulmonary processes]. Cas Lek Cesk (2002) 1.39
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis. Am J Hum Genet (1996) 1.38
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. Hum Genet (2000) 1.37
Further delineation of the Nijmegen breakage syndrome. Am J Med Genet (1989) 1.35
Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene. Hum Genet (1992) 1.27
A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis. Hum Mol Genet (1998) 1.14
Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype. J Med Genet (2004) 1.05
SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene. Hum Mol Genet (1997) 1.04
Missense variations in the cystic fibrosis gene: heteroduplex formation in the F508C mutation. Am J Hum Genet (1992) 1.01
Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer. J Hepatol (2000) 1.00
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism. Eur J Hum Genet (1999) 0.97
Study of fibroblasts in Marfan's syndrome. Humangenetik (1966) 0.97
Genotype analysis of cystic fibrosis patients in relation to pancreatic sufficiency. Lancet (1990) 0.96
Anti-inflammatory cytokine release by alveolar macrophages in pulmonary sarcoidosis. Am J Respir Crit Care Med (1996) 0.96
Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene. Am J Hum Genet (1994) 0.95
Adenosine and methotrexate polyglutamate concentrations in patients with juvenile arthritis. Rheumatology (Oxford) (2004) 0.94
Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survival. Hum Genet (1997) 0.93
Comparative effects of methylphenidate on ADD girls and ADD boys. J Am Acad Child Adolesc Psychiatry (1989) 0.92
Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis. Cytogenet Genome Res (2007) 0.92
FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome. Am J Med Genet (1998) 0.92
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. J Med Genet (2002) 0.91
Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity. Hum Mol Genet (1995) 0.91
Association of tumour necrosis factor alpha variants with the CF pulmonary phenotype. Thorax (2005) 0.90
Stable isotope dilution analysis of N-acetylaspartic acid in CSF, blood, urine and amniotic fluid: accurate postnatal diagnosis and the potential for prenatal diagnosis of Canavan disease. J Inherit Metab Dis (1991) 0.90
Replication of cytomegalovirus in human epitheloid diploid cell line. Arch Virol (1976) 0.90
[Fatal syndrome of multiple malformations in 3 siblings]. Cesk Pediatr (1976) 0.90
Prenatal diagnosis of GM2 gangliosidosis with high residual hexosaminidase A activity (variant B1; pseudo AB variant). Pediatr Res (1985) 0.90
Oculocerebrorenal syndrome in a female child. Am J Dis Child (1967) 0.90
Physical fitness of the Czechoslovak 12-and 15-year-old population. Acta Paediatr Scand Suppl (1971) 0.89
Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness. Clin Genet (2004) 0.89
Mulibrey nanism and Wilms tumor. Am J Med Genet (1999) 0.88
Sustained release and standard methylphenidate effects on cognitive and social behavior in children with attention deficit disorder. Pediatrics (1987) 0.88
A common haplotype of protamine 1 and 2 genes is associated with higher sperm counts. Int J Androl (2009) 0.88
SCA2 trinucleotide expansion in German SCA patients. Neurogenetics (1997) 0.87
Changes in phenylalanine tolerance while monitoring the dietetic treatment of pregnant women suffering from hyperphenylalaninaemia. J Inherit Metab Dis (1988) 0.87
Polymorphisms of UDP-glucuronosyltransferase 1A7 are not involved in pancreatic diseases. J Med Genet (2005) 0.86
Soluble adhesion molecules ICAM-1 and E-selectin in juvenile arthritis: clinical and laboratory correlations. Clin Exp Rheumatol (2002) 0.86
Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. Hum Mol Genet (1998) 0.86
Immunological investigation in children with juvenile chronic arthritis. Med Sci Monit (2001) 0.86
Highly preferential association of NonF508del CF mutations with the M470 allele. J Cyst Fibros (2006) 0.84
Biochemical characteristics of collagen produced by long term cultivated amniotic fluid cells. Hum Genet (1976) 0.84
Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection. Clin Chim Acta (1991) 0.84
First-trimester diagnosis of galactosaemia. Lancet (1986) 0.83
Neither expression of VEGF-C/D nor lymph vessel density supports lymphatic invasion as the mechanism responsible for local spread of recurrent salivary pleomorphic adenoma. Virchows Arch (2014) 0.83
Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother. J Inherit Metab Dis (1990) 0.83
Analysis of growth curves of fowl. I. Chickens. Br Poult Sci (1991) 0.83
Antineutrophil cytoplasmic autoantibodies (ANCA) in children with cystic fibrosis. J Autoimmun (1998) 0.83
Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels. Am J Hum Genet (2000) 0.83
Relationships between morphological changes and content of silica and hydroxyproline in bronchi and lungs of coal miners. Int Arch Arbeitsmed (1970) 0.82
Distribution patterns of the delta F508 mutation in the CFTR gene of CF-linked marker haplotypes in the German population. Hum Genet (1990) 0.82
Analysis of the Kveim-Siltzbach test reagent for bacterial DNA. Am J Respir Crit Care Med (1999) 0.82
Oculodentodigital dysplasia. Acta Chir Plast (1977) 0.82
[Alström's syndrome in two sisters (author's transl)]. Cas Lek Cesk (1978) 0.82
Evaluation of high-resolution melting (HRM) for mutation scanning of selected exons of the CFTR gene. Folia Biol (Praha) (2009) 0.82
Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations. Am J Hum Genet (1998) 0.81
X-chromosomal recessive microcephaly with epilepsy, spastic tetraplegia and absent abdominal reflexes. New variety of "Paine syndrome"? Humangenetik (1973) 0.81
Subtypes of HLA-DRB1*03, *08, *11, *12, *13 and *14 in early onset pauciarticular juvenile chronic arthritis (EOPA) with and without iridocyclitis. Clin Exp Rheumatol (1994) 0.81
Pregnancy-associated plasma protein A and proform eosinophilic major basic protein in the detection of different types of coronary artery disease. Physiol Res (2007) 0.81
A model for the role of HLA-DQ molecules in the pathogenesis of juvenile chronic arthritis. Rheumatol Int (1991) 0.81
[The TAR syndrome in 3 unrelated children]. Cesk Pediatr (1985) 0.81
Is the common 844ins68 polymorphism in the cystathionine beta-synthase gene associated with atherosclerosis? J Inherit Metab Dis (1999) 0.80
Genetic determinants of folate status in Central Bohemia. Physiol Res (2005) 0.80
First-trimester prenatal diagnosis of the Nijmegen breakage syndrome and ataxia telangiectasia using an assay of radioresistant DNA synthesis. Prenat Diagn (1990) 0.80
Cerebrospinal fluid. Adv Clin Chem (2001) 0.80
[Clinical picture of homocystinuria with cystathionine beta-synthase deficiency in 19 Czech and Slovak patients]. Cas Lek Cesk (2000) 0.80
Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. Hum Mutat (2002) 0.80
Increased micronuclei frequencies in couples with reproductive failure. Reprod Toxicol (2000) 0.79
The direct early diagnosis of cystic fibrosis by the detection of the delta F508 CFTR gene mutation in a prematurely delivered boy. Clin Genet (1991) 0.79
[Aggressive chondroblastoma]. Acta Chir Orthop Traumatol Cech (1993) 0.79
Cytogenetic studies of EB virus-positive and EB virus-negative lymphoblastoid cell lines. Cancer Res (1971) 0.79
Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation. Hum Mutat (1995) 0.79
Psychostimulant rebound in attention deficit disordered boys. J Am Acad Child Adolesc Psychiatry (1988) 0.79
Identical intragenic microsatellite haplotype found in cystic fibrosis chromosomes bearing mutation G551D in Irish, English, Scottish, Breton and Czech patients. Hum Hered (1995) 0.78
Intensive physical training in children with bronchial asthma. Acta Paediatr Scand Suppl (1971) 0.78
Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes. Hum Mutat (1996) 0.78
Fetal face syndrome with mental retardation. Humangenetik (1974) 0.78
Mevalonic aciduria. J Inherit Metab Dis (1991) 0.78
[Manifestations of placental dysfunction in the newborn infant and its effect and the further development of the child]. Cesk Gynekol (1969) 0.78
[Cultivation of cells from amniotic fluid for prenatal diagnosis]. Cesk Pediatr (1974) 0.78
Cementoma-like tumours of bone. Arch Orthop Trauma Surg (1982) 0.78