Novel variants in DNAH9 lead to nonsyndromic severe asthenozoospermia
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چکیده
منابع مشابه
Functional evaluation of GJB2 variants in nonsyndromic hearing loss.
Mutations in the gap junction β2 (GJB2) gene, encoding the connexin26 (CX26) protein, are the most common cause of non-syndromic hearing loss (HL) in many populations. In the East Asian population, two variants, p.V27I (c.79G>A) and p.E114G (c.341G>A), are considered benign polymorphisms since these variants have been identified in both HL patients and normal hearing controls. However, some stu...
متن کاملMolecular Detection of Novel Genetic Variants Associated to Anaplasma ovis among Dromedary Camels in Iran
To the best of our knowledge, little information is available regarding the presence of Anaplasma species in camels in Iran. This study sought to investigate the presence of Anaplasma species by microscopy and polymerase chain reaction (PCR) assays in 100 healthy dromedaries (Camelus dromedarius) arriving for slaughter. The microscopic examination of Giemsa-stained blood films revealed that Ana...
متن کاملSevere lead poisoning in pregnancy.
BACKGROUND Lead freely crosses the placenta. Consequently, gestational lead poisoning is not only harmful to the woman but also to the developing fetus, invariably producing congenital lead poisoning. The scope and consequences of severe lead poisoning in pregnancy (blood lead level > or =45 microg/dL) have not been well characterized. METHODS We reviewed our experience in the management of w...
متن کاملGenetics of Nonsyndromic Recessively Inherited Moderate to Severe and Progressive Deafness in Humans
Deafness is a sensory impairment which results in a partial or total loss in reception of sound. The intensity of sound can be measured in decibels (dB). It is usual to assess hearing thresholds at frequencies of 0.25, 0.5, 1, 2, 4 and 8 KHz. Sounds of each frequency are presented at different intensities to a subject and the response is recorded graphically as an audiogram. A loss in hearing i...
متن کاملNovel variants of citrus exocortis viroid from southern of Iran
Background and Aims: Citrus exocortis disease is naturally limited to citrus plants and causes a serious disease on sensitive rootstocks such as trifoliate orange. The aim of this study was to sample new variants of citrus exocortis viroid from Fars trees with yellowing and suberization symptoms and comparison with other isolates of this viroid. Materials and Methods: A number of symptomat...
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ژورنال
عنوان ژورنال: Reproductive Biology and Endocrinology
سال: 2021
ISSN: 1477-7827
DOI: 10.1186/s12958-021-00709-0