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Strikingly, rare biallelic point mutations identified by whole-genome and targeted "HAR-ome" sequencing showed a significant excess in individuals with ASD whose parents share common ancestry compared to familial controls, suggesting a contribution in 5% of consanguineous ASD cases.
Outcome, in terms of renal function and blood pressure, is usually favorable [ 7] compared to familial FSGS [ 18- 20].
In addition to the inequity compared to familial breast cancer, important opportunities for improved management of ovarian cancer patients and cancer prevention in their relatives are being lost.
Similarly, when compared to familial cases of polydactyly, lower birth order (P = 0.047) and lower birthweight (P < 0.0001) were characteristic of sporadic PPD1 cases.
Due to the high prevalence of focal seizures the authors discussed if this familial epilepsy could be compared to familial focal epilepsy in humans [ 41].
This is likely a consequence of lower VHL mutant allele fractions confined to the neoplastic "stromal" cells in sporadic hemangioblastomas, as compared to familial tumors that are characterized by heterozygous germline VHL alterations.
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We also noted a more frequent occurrence of epilepsy in mothers of children with PPD1 (1.7%) when compared to the familial forms (0%) or healthy controls (0.3%).
Women with a strong family history had less frequently stage I disease at diagnosis (24 vs 36%, P=0.043), and more often stage III disease (19 vs 9%, P=0.014), when compared to low familial risk patients.
Table 5 presents the breast cancer mortality risks of patients with a high familial risk compared to those at low familial risk stratified by age and use of chemotherapy.
After adjustment for all factors significantly linked to survival in univariate analysis (including hormonotherapy), the risk of dying of breast cancer was not significantly different among women at high familial risk compared to those at low familial risk (adjusted HR 1.3, 95% CI: 0.6 2.8).
Consistent with this hypothesis, schizophrenic patients with additional familial loading performed worse in a verbal working memory task requiring the articulatory rehearsal mechanism compared to those without familial loading.
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