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Article
Open AccessSix years beyond pediatric trauma: child and parental ratings of children’s health-related quality of life in relation to parental mental health
To examine the relationship between child self-report and parent proxy report of health-related quality of life (HRQL) and how parents’ mental health status relates to the HRQL ratings 6 years after minor to s...
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Article
Outcomes in Pediatric Trauma Care in the Stockholm Region
Although trauma is a leading cause of pediatric mortality and morbidity in Sweden, few studies have examined the outcome of pediatric trauma.
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Article
Open AccessA hypothesis-generating search for new genetic breast cancer syndromes - a national study in 803 Swedish families
Among Swedish families with an inherited predisposition for breast cancer, less than one third segregate mutations in genes known to be associated with an increased risk of breast cancer in combination with ot...
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Article
Complex segregation analysis of hypospadias
Hypospadias, when the urethra opens on the ventral side of the penis, is a common malformation seen in about 3 per 1000 male births. It is considered a complex disorder with both genetic and environmental fac...
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Article
Open AccessCOL11A1 in FAP polyps and in sporadic colorectal tumors
We previously reported that the α-1 chain of type 11 collagen (COL11A1), not normally expressed in the colon, was up-regulated in stromal fibroblasts in most sporadic colorectal carcinomas. Patients with germline...
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Article
Inheritance of chronic tension-type headache investigated by complex segregation analysis
We investigated the mode of inheritance of chronic tension-type headache in 122 families. The probands were from the Copenhagen Headache Clinic, Denmark. The criteria of the International Headache Society wer...
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Article
Inheritance of migraine investigated by complex segregation analysis
Migraine is the most common neurological disorder, affecting about 20% of adults. The mode of inheritance was analyzed in the two main types of migraine, migraine without aura (MO) and migraine with aura (MA),...
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Article
Hereditary breast cancer in sweden: a predominance of maternally inherited cases
The family history of breast cancer was studied in 1975 breast cancer patients of all ages. All the patients were found in an ongoing care program for breast cancer patients in the Stockholm area. One hundred ...
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Article
DNA haplotype analysis suggests linkage disequilibrium in the human insulin receptor gene
Haplotypes of the insulin receptor gene were resolved in parents from Scandinavian nuclear families by studying the segregation of seven restriction fragment length polymorphisms (RFLPs). Of 97 unrelated paren...
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Article
Leukaemia and transient leukaemia in Down syndrome
We have reviewed 215 published cases of leukaemia and transient leukaemia in Down syndrome. There is an over-representation of mosaic trisomy 21, possibly the result, at least in part, of a survival effect. Th...
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Article
The mode of inheritance of psoriasis: Evidence for a major gene as well as a multifactorial component and its implication for genetic counselling
Complex segregation analysis of Lomholt's family data on psoriasis on the Faroe Islands gave evidence for an additive major gene with gene frequency of 0.07 and penetrance 0.12 and 0.44 in the heterozygote and...
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Article
Data and theory for a revised chiasma map of man
Chiasma maps appropriate to chiasma conservation and terminalization are derived from new data on chiasma distributions and high-resolution banding. Here detailed data for arms with and without a terminal chia...
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Article
A girl with an interstitial deletion of the short arm of chromosome 3 studied with a high-resolution banding technique
A girl with delayed growth in body height and weight, retarded psychomotor development, facial dysmorphism, high-arched palate, extension defects of elbows, and a probable hearing impairment is presented. A ch...
