Published in Hum Hered on January 01, 1971
Gene-culture translation in the avoidance of sibling incest. Proc Natl Acad Sci U S A (1980) 1.08
Estimating the prevalence of inbreeding from incomplete pedigrees. Proc Biol Sci (2002) 0.94
A gene-culture coevolutionary model for brother-sister mating. Proc Natl Acad Sci U S A (1997) 0.84
Incest. Arch Dis Child (1983) 0.75
Children born as a result of incest. Br Med J (Clin Res Ed) (1981) 0.75
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell (1998) 4.72
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
Further delineation of the Nijmegen breakage syndrome. Am J Med Genet (1989) 1.35
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
[Alström's syndrome in two sisters (author's transl)]. Cas Lek Cesk (1978) 0.82
X-chromosomal recessive microcephaly with epilepsy, spastic tetraplegia and absent abdominal reflexes. New variety of "Paine syndrome"? Humangenetik (1973) 0.81
[The TAR syndrome in 3 unrelated children]. Cesk Pediatr (1985) 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
Fetal face syndrome with mental retardation. Humangenetik (1974) 0.78
[A dissecting aortic aneurysm in a female patient with Turner syndrome]. Vnitr Lek (2000) 0.77
Primary cystathioninuria in an infant born out of incest. Acta Univ Carol Med Monogr (1977) 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
[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
[Hyperphenylalaninemia]. Cas Lek Cesk (1971) 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
[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
Screening of amino acid enzymopathies in pregnancy and possibilities of their prenatal diagnosis. Acta Univ Carol Med Monogr (1977) 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
[Comparison of the diagnostic effectiveness of prenatal genetic diagnosis in the 1st and 2d trimester of pregnancy]. Cesk Pediatr (1987) 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
[Results of screening for aminoacidopathies in pregnant women]. Cesk Pediatr (1977) 0.75
[Fetal hydantoin syndrome]. Cas Lek Cesk (1979) 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
[The VATER syndrome in a 2-and-half-year-old girl]. Cesk Pediatr (1979) 0.75
[Personal experience with genetic study of the hearing-impaired]. Cesk Pediatr (1992) 0.75
[Genealogical studies of a group of children with duodenal ulcer]. Cas Lek Cesk (1972) 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
[Typus degenerativus amstelodamensis. The Cornelia de Lange syndrome in 2 children]. Cas Lek Cesk (1979) 0.75
[Focal dermal hypoplasia syndrome (Goltz-Gorlin syndrome) (author's transl)]. Cesk Dermatol (1982) 0.75
[Homocystinuria]. Cesk Pediatr (1972) 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
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
[Focal dermal hypoplasia (Goltz' and Gorlin's syndrome) in a newborn infant]. Cesk Pediatr (1978) 0.75
[Familial incidence of Down's disease]. Cesk Pediatr (1973) 0.75
[Amniocentesis in the prenatal diagnosis of inborn chromosomal and metabolic defects (author's transl)]. Cesk Gynekol (1974) 0.75
[The "osteoporosis-pseudoglioma" syndrome]. Cesk Oftalmol (1984) 0.75
[Autosomal recessive pseudohypertonic muscular dystrophy with mental retardation. Report on 2 siblings]. Cesk Neurol Neurochir (1984) 0.75
[Childhood obesity as a symptom of genetic syndromes]. Cesk Pediatr (1989) 0.75
[Our experience with genetic counseling]. Cesk Pediatr (1973) 0.75
Morfan: a new syndrome characterized by mental retardation, pre- and postnatal overgrowth, remarkable face and acanthosis nigricans in 5-year-old boy. Am J Med Genet (1993) 0.75
[DNA diagnosis of the fragile X chromosome syndrome--FRAXA using PCR]. Cas Lek Cesk (1998) 0.75
Carrier detection of the fragile X syndrome using flanking loci DXS98, DXS105, and DXS304. Am J Med Genet (1991) 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
Clinical and biochemical characterization of syndromes associated with defects of the insulin receptor. Acta Univ Carol Med (Praha) (1992) 0.75
[Differential diagnosis of progressive muscular dystrophies using an expert computer system]. Cas Lek Cesk (1985) 0.75
[Screening for fragile X syndrome in handicapped boys]. Kinderarztl Prax (1992) 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
Fragile X syndrome in incestuous families. Am J Med Genet (1996) 0.75
[Contribution to hereditary deaf-mutism]. Cesk Otolaryngol (1967) 0.75
[Hereditary incidence of cerebellar atrophy]. Cesk Neurol Neurochir (1975) 0.75
[The role of medical genetics in the health care system]. Cesk Gynekol (1990) 0.75
[Use of expert systems in the clinical genetics of polydactyly and progressive muscular dystrophies]. Cesk Pediatr (1987) 0.75
[Genetic causes of hazards in newborn infants and sucklings]. Cesk Pediatr (1973) 0.75
[The role of medical genetics in the health care system]. Cesk Pediatr (1990) 0.75
[Experience with diagnosing phenylalanine metabolism prior to marriage (author's transl)]. Cas Lek Cesk (1978) 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
[Hazards of first cousin marriages]. Cesk Pediatr (1970) 0.75
Studies on cultured fibroblasts from patients with cutaneous malignant melanoma. Acta Univ Carol Med (Praha) (1992) 0.75
[Smith-Lemli-Opitz syndrome in an infant]. Cesk Pediatr (1974) 0.75
[Macro-orchism. A significant symptom in the detection of the fragile X chromosome syndrome]. Cas Lek Cesk (1983) 0.75
X del(q) Turner's syndrome in a 30-month-old girl. Hum Hered (1977) 0.75
[Duffy blood groups and HLA antigens in hereditary motor-sensory neuropathy]. Cesk Neurol Neurochir (1989) 0.75