Published in Cesk Pediatr on October 01, 1990
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell (1998) 4.72
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
On the nature and extent of XY pairing at meiotic prophase in man. Cytogenet Cell Genet (1984) 1.46
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
Further delineation of the Nijmegen breakage syndrome. Am J Med Genet (1989) 1.35
Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? Hum Genet (1992) 1.31
Morphological and temporal sequence of meiotic prophase development at puberty in the male mouse. J Cell Sci (1984) 1.29
Methylation changes in promoter and enhancer regions of the WT1 gene in Wilms' tumours. Cancer Lett (2001) 0.99
Exomphalos in four consecutive pregnancies. Humangenetik (1971) 0.96
Allele loss in Wilms tumors of chromosome arms 11q, 16q, and 22q correlate with clinicopathological parameters. Genes Chromosomes Cancer (1998) 0.94
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
A database of germline p53 mutations in cancer-prone families. Nucleic Acids Res (1998) 0.91
[Fatal syndrome of multiple malformations in 3 siblings]. Cesk Pediatr (1976) 0.90
Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours. Br J Cancer (1998) 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
Retracted Polymorphisms of dopamine-beta-hydroxylase in ADHD children. Folia Biol (Praha) (2006) 0.85
Biocompatible magnetic polymer carriers for in vivo radionuclide delivery. Artif Organs (1999) 0.84
XY pair associates with the synaptonemal complex of autosomal male-sterile translocations in pachytene spermatocytes of the mouse (Mus musculus). Chromosoma (1981) 0.83
Effects of alkylating agents on lymphocytes from controls and from patients with Fanconi's anemia. Studies of sister chromatid exchanges, chromosome aberrations, and kinetics of cell division. Hum Genet (1979) 0.83
Absence of spinocerebellar ataxia type 3/Machado-Joseph disease within ataxic patients in the Czech population. Eur J Neurol (2005) 0.83
[Alström's syndrome in two sisters (author's transl)]. Cas Lek Cesk (1978) 0.82
Oculodentodigital dysplasia. Acta Chir Plast (1977) 0.82
[The TAR syndrome in 3 unrelated children]. Cesk Pediatr (1985) 0.81
X-chromosomal recessive microcephaly with epilepsy, spastic tetraplegia and absent abdominal reflexes. New variety of "Paine syndrome"? Humangenetik (1973) 0.81
Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. Hum Mutat (2002) 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
Increased micronuclei frequencies in couples with reproductive failure. Reprod Toxicol (2000) 0.79
Synaptonemal complexes of mouse and human pachytene chromosomes visualized by silver staining in air-dried preparations. Chromosoma (1979) 0.79
Can ataxin-2 be down-regulated by allele-specific de novo DNA methylation in SCA2 patients? Med Hypotheses (2004) 0.78
Fetal face syndrome with mental retardation. Humangenetik (1974) 0.78
Oncogene amplification and expression in pediatric solid tumors. Neoplasma (1998) 0.77
Assessment of mode of anger expression in adolescent psychiatric inpatients. Adolescence (2001) 0.77
[A dissecting aortic aneurysm in a female patient with Turner syndrome]. Vnitr Lek (2000) 0.77
Molecular analysis of chromosome 21 in a patient with a phenotype of Down syndrome and apparently normal karyotype. Am J Med Genet (1996) 0.77
Fluorescent multiplex PCR--fast method for autosomal dominant spinocerebellar ataxias screening. Genetika (2005) 0.77
[Humoral encapsulation as a defense reaction in Diptera]. Ann Parasitol Hum Comp (1977) 0.77
Primary cystathioninuria in an infant born out of incest. Acta Univ Carol Med Monogr (1977) 0.77
[The attitude of family members with polycystic kidney disease to the disease and presymptomatic testing]. Cas Lek Cesk (1994) 0.77
The importance of blast cell DNA content for prognosis of childhood acute lymphoblastic leukemia. Neoplasma (1990) 0.76
Duffy locus linkage and HLA antigens in hereditary motor-sensory neuropathy. Schweiz Arch Neurol Psychiatr (1991) 0.76
[DNA methylation and neoplasms]. Cas Lek Cesk (2000) 0.76
Prenatal detection of a fetus hemizygous for the fragile X-chromosome. Hum Genet (1982) 0.76
Results of screening for phenylalanine and other amino acid disturbances among pregnant women. J Inherit Metab Dis (1980) 0.75
[Hyperphenylalaninemia]. Cas Lek Cesk (1971) 0.75
[Child of a mother with hyperphenylalaninemia]. Cesk Pediatr (1972) 0.75
[Pregnancy hyperphenylalanemia and its diagnostic importance (author's transl)]. Cas Lek Cesk (1975) 0.75
[Maternal hyperphenylalaninemia and intrauterine damage to the CNS]. Cesk Neurol Neurochir (1974) 0.75
[DNA diagnosis of the fragile X chromosome syndrome--FRAXA using PCR]. Cas Lek Cesk (1998) 0.75
[The "osteoporosis-pseudoglioma" syndrome]. Cesk Oftalmol (1984) 0.75
[Familial incidence of Down's disease]. Cesk Pediatr (1973) 0.75
[Genetic risks of children of incestuous and consanguineous unions]. Z Arztl Fortbild (Jena) (1986) 0.75
[Evaluation of the birth weight of children from incestuous relationships and their half-siblings. Evaluation of the role of heredity in birth weight]. Cesk Pediatr (1983) 0.75
[The fragile chromosome X syndrome]. Cas Lek Cesk (1982) 0.75
[Larsen's syndrome]. Cesk Pediatr (1979) 0.75
[Crying cat syndrome]. Cesk Pediatr (1972) 0.75
[Differential diagnosis of progressive muscular dystrophies using an expert computer system]. Cas Lek Cesk (1985) 0.75
[Typus degenerativus amstelodamensis. The Cornelia de Lange syndrome in 2 children]. Cas Lek Cesk (1979) 0.75
[Smith-Lemli-Opitz syndrome in an infant]. Cesk Pediatr (1974) 0.75
[Focal dermal hypoplasia syndrome (Goltz-Gorlin syndrome) (author's transl)]. Cesk Dermatol (1982) 0.75
X del(q) Turner's syndrome in a 30-month-old girl. Hum Hered (1977) 0.75
[Meckel's syndrome]. Cesk Pediatr (1975) 0.75
[Possibilities, utilization, and perspectives of clinical cytogenetics in pediatrics]. Cesk Pediatr (1968) 0.75
[Genealogical studies of a group of children with duodenal ulcer]. Cas Lek Cesk (1972) 0.75
[Chromosome aberrations in children from endangered pregnancies]. Cesk Pediatr (1973) 0.75
[Turner's syndrome in a boy]. Cesk Pediatr (1975) 0.75
[Facial asymmetry syndrome during crying associated with other abnormalities]. Cesk Pediatr (1982) 0.75
[Cystinuria and lysinuria in Down's syndrome]. Cas Lek Cesk (1970) 0.75
[Current state of clinical cytogenetics in Czechoslovakia]. Cesk Pediatr (1969) 0.75
[The Ellis-van Creveld syndrome in a boy (author's transl)]. Cas Lek Cesk (1979) 0.75
[Unusual case of familial incidence of omphalocele]. Cesk Pediatr (1971) 0.75
[Tasks of genetic counseling]. Zdrav Aktual (1981) 0.75
[The 47,XXX syndrome in a family with the fragile X chromosome syndrome]. Cas Lek Cesk (1985) 0.75
[Macro-orchism. A significant symptom in the detection of the fragile X chromosome syndrome]. Cas Lek Cesk (1983) 0.75
[Successful prenatal diagnosis of the fragile X chromosome without the use of folic acid antagonists]. Cesk Pediatr (1983) 0.75
[Fetal hydantoin syndrome]. Cas Lek Cesk (1979) 0.75
[Familial microcephaly with spasticity and epilepsy in 2 sisters]. Cesk Neurol Neurochir (1987) 0.75
[The VATER syndrome in a 2-and-half-year-old girl]. Cesk Pediatr (1979) 0.75
[Genetic causes of hazards in newborn infants and sucklings]. Cesk Pediatr (1973) 0.75
[Hereditary incidence of cerebellar atrophy]. Cesk Neurol Neurochir (1975) 0.75
[Familial incidence of pericentric inversion of X chromosome]. Cesk Pediatr (1974) 0.75
[Estimation of the latent genetic load from results of studies on 149 children out of incest]. Cesk Pediatr (1970) 0.75
[Indications for chromosome analysis in childhood]. Cesk Pediatr (1970) 0.75
[Manifestations of genetic burden in prenatal and postnatal periods]. Cesk Pediatr (1972) 0.75
[Further development of the MYOPAT knowledge base for the differential diagnosis of progressive muscular dystrophy]. Cas Lek Cesk (1986) 0.75
[Prenatal diagnosis of glycogenosis II.--Pompe's disease]. Cesk Pediatr (1977) 0.75
[A method for detection of germinal mutations in the p53 tumor suppressor gene]. Cas Lek Cesk (1996) 0.75
[Effect of roentgen irradiation on the chromosomes of embryonal tissues]. Cesk Gynekol (1967) 0.75
[Amniocentesis in the prenatal diagnosis of inborn chromosomal and metabolic defects (author's transl)]. Cesk Gynekol (1974) 0.75
The Neu-Laxova syndrome. Am J Med Genet (1985) 0.75
[Autosomal recessive pseudohypertonic muscular dystrophy with mental retardation. Report on 2 siblings]. Cesk Neurol Neurochir (1984) 0.75