Results 11 to 20 of about 379,319 (247)
BMC Medical Genomics, 2022 Background Founder populations that have recently undergone important genetic bottlenecks such as French-Canadians and Ashkenazi Jews can harbor some pathogenic variants at a higher carrier rate than the general population, putting them at a higher risk ...
Philippe Pierre Robichaud +9 more
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Genetic lessons learned from X‐linked Mendelian susceptibility to mycobacterial diseases [PDF]
Annals of the New York Academy of Sciences, 2011 Mendelian susceptibility to mycobacterial disease (MSMD) is a rare syndrome conferring predisposition to clinical disease caused by weakly virulent mycobacteria, such as Mycobacterium bovis Bacille Calmette Guérin (BCG) vaccines and nontuberculous, environmental mycobacteria (EM).
Jacinta, Bustamante +4 more
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Genetic Heterogeneity in Patients with X-Linked Recessive Chronic Granulomatous Disease [PDF]
Pediatric Research, 1992 Genetic heterogeneity in 12 patients from 11 different families with X-linked recessive chronic granulomatous disease was studied by Southern blot analysis using cytochrome b heavy-chain cDNA as a probe. We found the abnormal restriction length fragment patterns of the cytochrome b heavy-chain gene in three families, which were not observed in healthy ...
T, Ariga +6 more
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X-linked agammaglobulinemia with bronchiectasis and infection： a case report [PDF]
Zhenduanxue lilun yu shijianX-linked agammaglobulinemia (XLA) is a rare disease characterized by severe hypogammaglobulinemia, antibody deficiency, and recurrent infections. This study reports a case of X-linked agammaglobulinemia combined with bronchiectasis and infection.
LIN Jiayuan, CHENG Qijian, CHEN Ling
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Immune-mediated inflammatory diseases with chronic excess of serum interleukin-18
Frontiers in Immunology, 2022 Review: Interleukin-18 (IL-18) is a proinflammatory cytokine that promotes various innate immune processes related to infection, inflammation, and autoimmunity.
Hanae Miyazawa, Taizo Wada
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Scientific Reports, 2022 Autologous cell replacement therapy for inherited metabolic disorders requires the correction of the underlying genetic mutation in patient’s cells. An unexplored alternative for females affected from X-linked diseases is the clonal selection of cells ...
Ramon Santamaria +8 more
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Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1
Frontiers in Pediatrics, 2021 Herein, we present a rare case of co-occurring Duchenne muscular dystrophy (DMD) and frontometaphyseal dysplasia 1 (FMD1), two different X-linked diseases, in a 7-year-old boy.
Jaewon Kim +5 more
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Romanian Journal of Pediatrics, 2009 Another reproductive option that is now available is prenatal diagnosis. By utilizing increasingly sophisticated technology, many congenital malformations and genetic defects can now be diagnosed prior to twenty weeks of pregnancy. The authors present:
Valeriu Popescu, Andrei Zamfirescu
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Rapid Genetic Analysis of X-Linked Chronic Granulomatous Disease by High-Resolution Melting [PDF]
The Journal of Molecular Diagnostics, 2010 High-resolution melting analysis was applied to X-linked chronic granulomatous disease, a rare disorder resulting from mutations in CYBB. Melting curves of the 13 PCR products bracketing CYBB exons were predicted by Poland's algorithm and compared with observed curves from 96 normal individuals.
Harry R, Hill +12 more
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