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2701“…The patient showed isodisomy of chromosome 1, where KCTD3 is located, and the father was heterozygous for the same variant. Based on these findings, paternal uniparental disomy was considered to cause the biallelic involvement of KCTD3.…”
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2702Publicado 2023“…The c.248G>A mutation was from mother and the c.238T>A mutation was from father. The diagnosis of glycogen storage disease type Ⅰa was confirmed. …”
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2703“…To assess the extent to which such confounding has been considered, we conducted a systematized review to identify studies examining measures of both prepubertal growth (e.g. weight, height) and psychosocial stressors (e.g. adversity, father absence) in relation to female pubertal timing. …”
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2704“…People often attribute rumours to an individual in a knowledgeable position two steps removed from them (a credible friend of a friend), such as ‘my friend's father, who's a cop, told me about a serial killer in town’. …”
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2705“…Women and non-working participants were more likely to exhibit severe nomophobia (adj PR = 1.57) and any level of nomophobia was 30% higher among the participants whose father had no academic degree (p = 0.029). In addition, 59% of those with severe nomophobia had very frequent phone checking (p < 0.001) while 45.8% with any level of nomophobia reported a negative influence on their academic performance. …”
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2706por Mahsoon, Alaa Nabil, Almashat, Lina, Alsubaui, Norah, Hindi, Shahad, Alharbi, Shahad, Yaghmour, Sara, Sharif, Loujain“…The chi-square test revealed statistically significant differences between substance abuse progression by sex, current age, father’s education level, parent’s marital status, and one’s company in substance use. …”
Publicado 2023
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2707por Suenaga, Atsuhiko, Sawa, Naoki, Miki, Katsuyuki, Yokoyama, Takayoshi, Ishii, Yasuo, Mizuno, Hiroki, Ikuma, Daisuke, Oba, Yuki, Sekine, Akinari, Yamanouchi, Masayuki, Hasegawa, Eiko, Suwabe, Tatsuya, Kono, Kei, Kinowaki, Keiichi, Ohashi, Kenichi, Honda, Kazuho, Miyazono, Motoaki, Nakamura, Yuki, Ubara, Yoshifumi“…We experienced a 36-year-old man with lupus nephritis and antiphospholipid syndrome (APS) who received a donor kidney from his father. Twenty-two months after transplantation, at a time of poor adherence to immunosuppressants and warfarin, the patient developed sudden graft loss due to hemolytic uremic syndrome with rapid deterioration of renal function, thrombocytopenia, and hemolytic anemia. …”
Publicado 2023
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2708por Baide‐Mairena, Heidy, Coget, Arthur, Leboucq, Nicolas, Procaccio, Vincent, Blanluet, Maud, Meyer, Pierre, Malinge, Marie‐Claire, François‐Heude, Marie‐Céline, Moreno, Mathis, Geneviève, David, Marelli, Cecilia, Roubertie, Agathe“…Molecular analysis was performed post‐mortem following the diagnosis of dentatorubral–pallidoluysian atrophy (DRPLA) in his symptomatic father. Polyglutamine expansion defects should be considered when neurodegenerative genetic disease is suspected even in infancy and parkinsonism can be a presentation of infantile‐onset DRPLA.…”
Publicado 2023
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2709por Liu, Keqiao“…This study contributes to the existing literature by shedding light on the beneficial effects of parental involvement and highlighting the differential involvement of mothers and fathers.…”
Publicado 2023
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2710“…There are, however, several potential current conflicts that might arise, as was illustrated by the case of JS in England, in which a 14-year-old girl who sought cryopreservation against her father’s wishes. In the USA, there have been disputes within families about cryonic preservation, and between cryonics organizations and loved ones of the deceased when there is negligent preservation. …”
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2711“…We report the case of a 22‐year‐old male patient with a history of FMF and a positive family history of FMF in his father, who presented with inflammatory back pain. …”
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2712“…Sanger sequencing results showed that the c.1439+1G>C variant was inherited from the mother, and c.875+1G>A from the father, rarely reported in pseudohypoaldosteronism type 1 with sodium epithelial channel destruction (PHA1b) patients. …”
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2713por Ponińska, Joanna Kinga, Pelczar-Płachta, Weronika, Pollak, Agnieszka, Jończyk-Potoczna, Katarzyna, Truszkowska, Grażyna, Michałowska, Ilona, Szafran, Emilia, Bilińska, Zofia T., Bobkowski, Waldemar, Płoski, Rafał“…In the proband, two pathogenic variants were identified: p.Tyr257Ter in the LOX gene inherited from her mother, and p.Thr2977Ile in the PKD1 gene inherited from her father. All adult carriers of either of these variants showed symptoms of aortic disease. …”
Publicado 2023
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2714“…Only a few studies have involved investigation of the effect of unemployment of the father on pregnancy. The objective of this study was to assess the effects of unemployment of one or both parents on obstetric outcome in conditions of free antenatal care attended by the entire pregnant population. …”
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2715“…Radiation-specific chromosome aberrations were found in one of two healthy siblings and one father of leukemia patients as well as in any of three probands living in houses with high indoor radon activities. …”
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2716por Queller, David C“…BACKGROUND: Genomic imprinting refers to the differential expression of genes inherited from the mother and father (matrigenes and patrigenes). The kinship theory of genomic imprinting treats parent-specific gene expression as products of within-genome conflict. …”
Publicado 2003
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2717“…Fibroblasts cultured from the father contained no metachromatic granules whereas those of the hemizygous mother contained both metachromatic granules and "gargoyle" cells. …”
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2718por Staník, Juraj, Lethby, Mark, Flanagan, Sarah E., Gašperíková, Daniela, Milošovičová, Beata, Lever, Margaret, Bullman, Hilary, Zubcevic, Lejla, Hattersley, Andrew T., Ellard, Sian, Ashcroft, Frances M., Klimeš, Iwar“…RESULTS—Analysis of the KCNJ11 gene found a novel R365H mutation in the proband and her unaffected father. The functional analysis did not support pathogenicity of this variant. …”
Publicado 2008
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2719por Khan, Arif O., Aldahmesh, Mohammed A., Ghadhfan, Faisal E., Al-Mesfer, Saleh, Alkuraya, Fowzan S.“…RESULTS: In the first family, a 4-year-old boy with bilateral cerulean cataract and his 6-year-old brother with similar bluish lens discoloration but in a coralliform pattern were heterozygous for the p.P23T CRYGD mutation. Their father and 2 older brothers, all of whom underwent childhood cataract surgery, also harbored the mutation while the 2 asymptomatic immediate family members did not. …”
Publicado 2009
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2720“…Half of the adoptions were done by males and remarkably only one of these proved to be the father. Such adoptions by adults can last for years and thus imply extensive care towards the orphans. …”
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