نتایج جستجو برای: novel mutation
تعداد نتایج: 1043934 فیلتر نتایج به سال:
Roger’s syndrome is a rare form of diabetes in children that is characterized with early onset of diabetes mellitus, megaloblastic anemia, and sensory neural hearing loss. In this report three cases of this syndrome from consanguineous Iranian families are introduced (two siblings and a cousin). They referred to pediatric ward of Imam Reza Hospital with hyperglycemia, anemia and sensory neural ...
exon sequencing of pkd1 gene in an iranian patient with autosomal-dominant polycystic kidney disease
introduction: autosomal dominant polycystic kidney disease (adpkd) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. adpkd is genetically heterogeneous with two genes identified: pkd1 (16p13.3, 46 exons) and pkd2 (4q21, 15 exons). eighty five percent of the patients with adpkd have at least one mutation in the pkd1 gene. genetic studies have demonstrate...
Objective(s): Childhood cataract is a genetically heterogeneous eye disorder that results in visual impairment. The aim of this study was to identify the genetic mutations of connexin 50 gene among Iranian families suffered from autosomal dominant congenital cataracts (ADCC). Materials and Methods: Families, having at least two members with bilateral familial congenital cataract, were selected ...
Background and Objective: CCR5 is known as a main co-receptor in HIV infection. Many studies demonstrated that 32bp deletion in both CCR5 alleles provide natural resistance to HIV infection, so new treatment approaches are based on inducing this resistance by means of gene and cell therapies. This projects aim was the discovery of suitable candidates for new therapeutic strategies in addition t...
Severe Combined Immunodeficiency (SCID), characterized by a profound decrease in both the number and function of T cells, is related to more than 20 different mutations. Recombination-activating gene (RAG) 1 and 2 seem to be two of the most common forms presenting with various manifestations, including typical SCID, Omenn syndrome (OS), atypical SCID (AS), or delayed onset combined immunodefici...
Aims Morquio syndrome is a mucopolysaccharidosis (type 4) that has autosomal recessive inheritance. Moreover, it is caused by defects in the two genes; GALNS (Murcio A) and GLB1 (Murcio B). The prevalence rate of this condition is estimated to be about 1 per 200000 live births globally. Besides, Middle Eastern cases shape the greatest ratio, due to higher rates of consanguineous marriages. The ...
Jumpei Ito1, 2, Satoshi Narumi2, Kazumichi Nishizawa1, 2, Tsutomu Kamimaki2, 3, Naoaki Hori2, 4, and Tomonobu Hasegawa2 1 Department of Pediatrics, Japanese Red Cross Shizuoka Hospital, Shizuoka, Japan 2 Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan 3 Department of Pediatrics, Shizuoka City Shimizu Hospital, Shizuoka, Japan 4 Department of Pediatrics, Ota Memorial H...
mutations in the gjb2 gene encoding connexin 26 (cx26) protein are a major cause for autosomal recessive non syndromic and sporadic deafness in many populations. in this study we have investigated the prevalence of the gjb2 gene mutations using nested pcr pre screening strategy and direct sequencing method. two hundred and sixty autosomal recessive non syndromic and sporadic deaf subjects from ...
introduction oculocutaneous albinism (oca) is a genetically heterogeneous autosomal recessive genetic disorder that is characterized by reduced or completely absent pigmentation in the hair, skin, and eyes. conclusions a novel homozygous mutation, the deletion of exons 1 - 5 on the tyr gene, was found on the molecular genetic testing of this patient. exon 1 - 5 deletion on tyr causes a lack of ...
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