نتایج جستجو برای: oculocutaneous albinism 1 a
تعداد نتایج: 14033402 فیلتر نتایج به سال:
Chediak-Higashi Syndrome is a pathology caused by mutation in the LYST gene, characterized immunodeficiency, oculocutaneous albinism, and neurological dysfunction resulting from neutrophil changes. Homozygotes die first decade of life. The study about literature review different sources, with articles extracted SciELO, LILACS, MEDLINE, Google Scholar, PubMed databases, published between 2000 20...
BACKGROUND Oculocutaneous albinism (OCA) is the most common inherited disorder in Southern African blacks and several types have been described. Molecular techniques, where available, can be used to confirm a clinical diagnosis and the type of OCA, if necessary, and for prenatal diagnosis. OBJECTIVES To investigate and classify the different types of albinism commonly found and to determine t...
Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by either complete lack of or a reduction in melanin biosynthesis in the skin, hair, and eyes. OCA1, the most common and severe type, is caused by mutations in the tyrosinase (TYR) gene. In this study, we report a Chinese family with two members affected by OCA. Blood samples were collected from all family members. G...
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, bleeding diathesis, and progressive neurologic deterioration. In 85% of cases, CHS patients develop the accelerated phase characterized by pancytopenia, high fever, and lymphohistiocytic infiltration of liver, spleen, and lymph nodes. Treatment of accele...
Advancements in Case Studies Basal Cell Carcinoma a Filipino with Oculocutaneous Albinism:A Report Marianne Isabel A Sayo MD, DPDS* and Arunee Siripunvarapon FPDS East Avenue Medical Center, Department of Dermatology, Metro Manila, Philippines *Corresponding author: Sayo, DPDS, Quezon City, Philippines, E-mail: mariel.sayo@yahoo. com Submission:October 03, 2022;Published: October 31, 2022 DOI: ...
This paper studies 83 cases of oculocutaneous albinism (OCA) in family networks of Gitanos in southeastern Spain, and analyzes their sustained inbreeding patterns and complex genealogical relationships. It is based in the family and genealogy reconstitution of the Gitano population of 22 contiguous localities using ethnographic and historical demography methods. The study found a prevalence of ...
PURPOSE The purpose of this study was to identify the molecular basis of albinism in a large cohort of Italian patients showing typical ocular landmarks of the disease and to provide a full characterization of the clinical ophthalmic manifestations. METHODS DNA samples from 45 patients with ocular manifestations of albinism were analyzed by direct sequencing analysis of five genes responsible...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید