Familial cases
Exposure characteristics of familial cases of lung injury associated with the use of humidifier disinfectants
... the cases registered with the ACCE Hand determined 95 lung injuries as being suspected of associ- ation with disinfectant ...on cases with a greater possibility for the lung injury symptoms to have been ...
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Constitutional delay of puberty: presentation and inheritance pattern in 48 familial cases
... This retrospective, single center study was carried out on 48 probands (14 girls and 34 boys) from 48 families seen for CDP with a familial component by a senior pediatric endocrinologist (R Brauner) in a ...
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Familial Takayasu arteritis - a pediatric case and a review of the literature
... of familial cases also revealed that many affected siblings were only diagnosed after they presented with late signs and symptoms of disease, without having previously been evaluated for absent pulses, ...
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Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort
... sarcoidosis cases is already well known [14]; it raised the issues of predisposing genes and genotypes involved in a Mendelian inheritance of the clinical ...between familial and sporadic ...index ...
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Rack, Anita Lena (2009): Das Periodisches Fieber, Aphthöse Stomatitis, Pharyngitis und Adenitis (PFAPA)-Syndrom: Klinische und molekulargenetische Untersuchungen bei 71 Kindern zur Abgrenzung von hereditären periodischen Fiebersyndromen. Dissertation, LMU München: Medizinische Fakultät
... Two familial cases with tumor necrosis factor receptor-associated periodic syndrome caused by a non-cysteine mutation (T50M) in the TNFRSF1A gene associated with se[r] ...
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Clinical and genetic aspects of testicular germ cell tumours
... the familial clustering was best accounted for by a major gene for TGCT with a recessive mode of ...and familial cases ...bilateral cases are caused by early somatic mutations in KIT and ...
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Advanced paternal age is a risk factor for schizophrenia in Iranians
... sporadic cases averaged 4.7 years older than familial cases of schizophrenia, and attributed approximately 27% of the sporadic cases to paternal age, and likely due to de novo mutations ...(1) ...
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Primary open angle glaucoma due to T377M <em>MYOC</em>: Population mapping of a Greek founder mutation in Northwestern Greece
... The clinical findings in carriers of the T377M mutation from Epirus are presented in Table 2. Of these, 15 had a diagnosis of POAG (12 from the Chrysovitsa family, 2 other familial cases, 1 sporadic case). ...
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Chromosome 6q16-21 deletions in acute lymphoblastic leukaemia
... the cases are o f the familial form while the remaining 60% o f cases occur ...the familial form the tumour appears during the neonatal period or shortly after ...sporadic cases there ...
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HLA DQB1 defined genetic susceptibility, beta cell autoimmunity, and metabolic characteristics in familial and nonfamilial insulin dependent diabetes mellitus Childhood Diabetes in Finland (DiMe) Study Group
... that familial cases are geneti- cally more susceptible to IDDM, and that as yet unidentified environmental risk factors have clustered in certain families with multiple affected ...IDDM cases with ...
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Familial Prion Disease Cases Without Mutation in PRNPGene
... in familial cases, the phenotypic manifestation of disease in patients harboring these mutations is affected by the sequence of nucleotides that encode codon 129 of the ...reported cases of variant ...
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"Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements
... intellectual disability (ID) but the role of such aberrations in familial ID has not yet been studied. As positive family history of ID had been proposed as an important and significant predicting factor of ...
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Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation
... Genetic studies were carried out in the 18 female patients with partial lipodystrophy phenotype. The thir- teen women that confirmed diagnosis of Dunnigan-type FPL (FPLD2) belonged to six different families. Family C and ...
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Original Article Decreased Alpha 2 integrin gene expression in non-familial gingival fibromatosis: a report of two cases
... showing dense wavy bundles of collagen fibers containing numerous fibrocytes and fibroblasts (Figure 3A). The histological examination of the male patient (Case 2) showed moderate hyper- plasia of a dense, hyperkeratotic ...
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Identifying genetic susceptibilities underlying familial haematological malignancies in a Tasmanian family resource
... of familial HMs the application of this technology to multigenerational families with multiple subtypes of disease and clusters of HM cases stands to identify the predisposing genetic factors underlying ...
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Mammographic density and breast cancer: a comparison of related and unrelated controls in the Breast Cancer Family Registry
... We used mammographic images previously collected from three epidemiological studies investigating the heritability and genetics of PMD. From these studies we had available mammograms for at least two full sisters from a ...
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The Admissibility of Tape Recordings in Criminal Trials Involving Domestic Disputes: California's Proposition 8 and Title III of the Federal Omnibus Crime Control and Safe Streets Act
... Familial and other domestic cases of eavesdropping and wiretapping pose a special problem to sets of laws that were initially designed to govern police misconduct or oc[r] ...
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BENIGN FAMILIAL POLYCYTHEMIA IN CHILDHOOD
... BENIGN FAMILIAL POLYCYTHEMIA IN CHILDHOOD: Report of Two Cases. Services[r] ...
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Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls
... the cases when only rare, deleterious mutations were ...in cases versus controls, although with only a modest odds ratio ...in cases versus controls with an OR of ...cancer cases (286/871, 33 ...
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REPORT OF THREE CASES OF IDIOPATHIC FAMILIAL HYPERLIPEMIA: USE OF ACTH AND CORTISONE
... of familial hyperlipemia, namely, familial incidence, lipemia retinalis and increased blood lipids with marked elevation of neutral fat.. Hepatomegaly was present in two of.[r] ...
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