Published in Cesk Dermatol on April 01, 1982
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
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
[Chronic nephropathies and disorders of renal function--is it sufficiently diagnosed in patients hospitalised on department of internal medicine and cardiology?]. Vnitr Lek (2006) 1.40
Further delineation of the Nijmegen breakage syndrome. Am J Med Genet (1989) 1.35
Reduction of dietary obesity in aP2-Ucp transgenic mice: mechanism and adipose tissue morphology. Am J Physiol (1996) 1.12
Brown fat is essential for cold-induced thermogenesis but not for obesity resistance in aP2-Ucp mice. Am J Physiol (1998) 1.12
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
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
[Fatal syndrome of multiple malformations in 3 siblings]. Cesk Pediatr (1976) 0.90
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
Probability models of the rate of infection with tick-borne encephalitis virus in Ixodes persulcatus ticks. Folia Parasitol (Praha) (1992) 0.85
Transgenic UCP1 in white adipocytes modulates mitochondrial membrane potential. FEBS Lett (1999) 0.85
Characterization of telomere-subtelomere junctions in Silene latifolia. Mol Genet Genomics (2003) 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
Teratological study of the hypolipidaemic drugs etofylline clofibrate (VULM) and fenofibrate in Swiss mice. Pharmacol Toxicol (1989) 0.82
[Alström's syndrome in two sisters (author's transl)]. Cas Lek Cesk (1978) 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
First-trimester prenatal diagnosis of the Nijmegen breakage syndrome and ataxia telangiectasia using an assay of radioresistant DNA synthesis. Prenat Diagn (1990) 0.80
Changes in pyridinoline content of elastin during ontogeny. Mech Ageing Dev (1981) 0.79
[Chronic obstructive pulmonary disease in the light of new guidelines - brief summary of phenotypically oriented guidelines for nonpulmonary physicians]. Vnitr Lek (2013) 0.79
[Vascular reactions of psoriatic patients]. Cesk Dermatol (1970) 0.78
Glucocorticoid receptor-mediated teratogenesis and cell proliferation in the limbs and face of the chick embryo. Teratog Carcinog Mutagen (1986) 0.78
Fetal face syndrome with mental retardation. Humangenetik (1974) 0.78
High expression of uncoupling protein 2 in foetal liver. FEBS Lett (1998) 0.78
[The relation of GERD, bronchial asthma and the upper respiratory tract]. Vnitr Lek (2005) 0.77
Primary cystathioninuria in an infant born out of incest. Acta Univ Carol Med Monogr (1977) 0.77
[A dissecting aortic aneurysm in a female patient with Turner syndrome]. Vnitr Lek (2000) 0.77
Prenatal detection of a fetus hemizygous for the fragile X-chromosome. Hum Genet (1982) 0.76
Duffy locus linkage and HLA antigens in hereditary motor-sensory neuropathy. Schweiz Arch Neurol Psychiatr (1991) 0.76
Results of screening for phenylalanine and other amino acid disturbances among pregnant women. J Inherit Metab Dis (1980) 0.75
High-performance gel permeation chromatography of collagens. J Chromatogr (1982) 0.75
[Hyperphenylalaninemia]. Cas Lek Cesk (1971) 0.75
[Pregnancy hyperphenylalanemia and its diagnostic importance (author's transl)]. Cas Lek Cesk (1975) 0.75
[Child of a mother with hyperphenylalaninemia]. Cesk Pediatr (1972) 0.75
Parthenogenetic activation of pig oocytes using pulsatile treatment with a nitric oxide donor. Reprod Domest Anim (2008) 0.75
Divergent selection for shape of growth curve in Japanese quail. 4. Carcase composition and thyroid hormones. Br Poult Sci (2008) 0.75
[Differential diagnosis of progressive muscular dystrophies using an expert computer system]. Cas Lek Cesk (1985) 0.75
[Smith-Lemli-Opitz syndrome in an infant]. Cesk Pediatr (1974) 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
[Current status, problems and perspective in prenatal genetic diagnosis]. Cas Lek Cesk (1978) 0.75
Screening of amino acid enzymopathies in pregnancy and possibilities of their prenatal diagnosis. Acta Univ Carol Med Monogr (1977) 0.75
Quantitative analysis of embryonic kidney impairment by confocal microscopy and stereology: effect of 1,2-dibromoethane in the chick mesonephros. Br Poult Sci (2005) 0.75
[Comparison of the diagnostic effectiveness of prenatal genetic diagnosis in the 1st and 2d trimester of pregnancy]. Cesk Pediatr (1987) 0.75
[Fetal hydantoin syndrome]. Cas Lek Cesk (1979) 0.75
[The VATER syndrome in a 2-and-half-year-old girl]. Cesk Pediatr (1979) 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
[The Saldin-Noonan syndrome]. Cas Lek Cesk (1978) 0.75
[Further development of the MYOPAT knowledge base for the differential diagnosis of progressive muscular dystrophy]. Cas Lek Cesk (1986) 0.75
[Homocystinuria]. Cesk Pediatr (1972) 0.75
[Prenatal diagnosis of glycogenosis II.--Pompe's disease]. Cesk Pediatr (1977) 0.75
[Amniocentesis in the prenatal diagnosis of inborn chromosomal and metabolic defects (author's transl)]. Cesk Gynekol (1974) 0.75
[Autosomal recessive pseudohypertonic muscular dystrophy with mental retardation. Report on 2 siblings]. Cesk Neurol Neurochir (1984) 0.75
Divergent selection for shape of growth curve in Japanese quail. 2. Embryonic development and growth. Br Poult Sci (2004) 0.75
[Childhood obesity as a symptom of genetic syndromes]. Cesk Pediatr (1989) 0.75
The Neu-Laxova syndrome. Am J Med Genet (1985) 0.75
[Manifestations of genetic burden in prenatal and postnatal periods]. Cesk Pediatr (1972) 0.75
[Reliability of questionnaire inquiry activities and anamnestic data]. Cesk Pediatr (1970) 0.75
[The fragile X chromosome syndrome]. Cesk Pediatr (1987) 0.75
[Gonosomal recessive heredity of microcephaly with epilepsy and spastic quadruparesis. New variant of the so called Paine's dyndrome?]. Cesk Pediatr (1973) 0.75
[Contribution to hereditary deaf-mutism]. Cesk Otolaryngol (1967) 0.75
Divergent selection for shape of growth curve in Japanese quail. 3. Onset of sexual maturity and basic characteristics of early lay. Br Poult Sci (2007) 0.75
[Hereditary incidence of cerebellar atrophy]. Cesk Neurol Neurochir (1975) 0.75
[Genetic causes of hazards in newborn infants and sucklings]. Cesk Pediatr (1973) 0.75
[Use of expert systems in the clinical genetics of polydactyly and progressive muscular dystrophies]. Cesk Pediatr (1987) 0.75
[Experience with diagnosing phenylalanine metabolism prior to marriage (author's transl)]. Cas Lek Cesk (1978) 0.75
[Hazards of first cousin marriages]. Cesk Pediatr (1970) 0.75
[Successful prenatal diagnosis of the fragile X chromosome without the use of folic acid antagonists]. Cesk Pediatr (1983) 0.75
[Familial microcephaly with spasticity and epilepsy in 2 sisters]. Cesk Neurol Neurochir (1987) 0.75
[Macro-orchism. A significant symptom in the detection of the fragile X chromosome syndrome]. Cas Lek Cesk (1983) 0.75
[Duffy blood groups and HLA antigens in hereditary motor-sensory neuropathy]. Cesk Neurol Neurochir (1989) 0.75
[The 47,XXX syndrome in a family with the fragile X chromosome syndrome]. Cas Lek Cesk (1985) 0.75
[Tasks of genetic counseling]. Zdrav Aktual (1981) 0.75
[The Ellis-van Creveld syndrome in a boy (author's transl)]. Cas Lek Cesk (1979) 0.75
[Cystinuria and lysinuria in Down's syndrome]. Cas Lek Cesk (1970) 0.75
[Facial asymmetry syndrome during crying associated with other abnormalities]. Cesk Pediatr (1982) 0.75
[Congenital anomalies in a family with incest]. Cesk Pediatr (1970) 0.75
[Turner's syndrome in a boy]. Cesk Pediatr (1975) 0.75
Incidence of phenylketonuria and other inborn errors of the amino acid metabolism in the normal and mentally retarded population. Rev Czech Med (1974) 0.75
[Results of screening for aminoacidopathies in pregnant women]. Cesk Pediatr (1977) 0.75
[Genealogical studies of a group of children with duodenal ulcer]. Cas Lek Cesk (1972) 0.75
Divergent selection for shape of growth curve in Japanese quail. 7. Effect of egg storage at high temperature on embryo development and hatchability. Br Poult Sci (2013) 0.75
[Typus degenerativus amstelodamensis. The Cornelia de Lange syndrome in 2 children]. Cas Lek Cesk (1979) 0.75
Genealogical investigation in a group of children with duodenal ulcer. Rev Czech Med (1973) 0.75
[Crying cat syndrome]. Cesk Pediatr (1972) 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
[Familial incidence of Down's disease]. Cesk Pediatr (1973) 0.75
[Focal dermal hypoplasia (Goltz' and Gorlin's syndrome) in a newborn infant]. Cesk Pediatr (1978) 0.75
[The "osteoporosis-pseudoglioma" syndrome]. Cesk Oftalmol (1984) 0.75
[Our experience with genetic counseling]. Cesk Pediatr (1973) 0.75
Divergent selection for shape of the growth curve in Japanese quail. 8. Effect of long-term selection on embryonic development and growth. Br Poult Sci (2015) 0.75
[Genetic risks of children of incestuous and consanguineous unions]. Z Arztl Fortbild (Jena) (1986) 0.75
[The fragile chromosome X syndrome]. Cas Lek Cesk (1982) 0.75
[Larsen's syndrome]. Cesk Pediatr (1979) 0.75