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Your search keyword '"Cholpon Dzhumakova"' showing total 3 results
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3 results on '"Cholpon Dzhumakova"'

1. A rare case of patient with neurofibromatosis type 1 in a genotype–phenotype correlation revealing a submicroscopic deletion on the long arm of chromosome 17

Author

Vityala Yethindra, Tugolbai Tagaev, Elmira Mamytova, Elmira Mainazarova, Cholpon Dzhumakova, and Asel Namazbekova

Subjects
genetics, neurology, ophthalmology, pediatrics and adolescent medicine, Medicine, Medicine (General), R5-920
Abstract

Abstract This paper details a case of neurofibromatosis type 1 (NF1) in a genotype–phenotype correlation, and the complexity of pathogenic variants of NF1 gene make correlation difficult. Establishing correlation is useful for targeted therapeutic intervention.

Published
2021
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2. Fine‐needle aspiration cytology‐based accurate and rapid diagnosis of breast tuberculosis mimicking an abscess

Author

Yethindra Vityala, Altynai Zhumabekova, Cholpon Dzhumakova, Tugolbai Tagaev, Asel Namazbekova, and Bolotbek Djanaliev

Subjects
biopsy, breast, breast diseases, diagnosis, fine needle, tuberculosis, Medicine, Medicine (General), R5-920
Abstract

Abstract A case of breast tuberculosis was initially misdiagnosed as a breast abscess and diagnosed definitively by minimally invasive fine‐needle aspiration cytology. This definitive diagnosis enabled us to prevent widespread infection by early initiation of the standard anti‐tuberculosis regimen. The patient recovered, and no disease recurrence was noted during follow‐ups.

Published
2021
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3. A rare case of patient with neurofibromatosis type 1 in a genotype–phenotype correlation revealing a submicroscopic deletion on the long arm of chromosome 17

Author

Elmira Mitalipovna Mamytova, Vityala Yethindra, Cholpon Dzhumakova, Asel Namazbekova, Elmira Mainazarova, and Tugolbai Tagaev

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Medicine (General), Case Report, Case Reports, Long arm, Genotype phenotype, Correlation, R5-920, Rare case, Medicine, genetics, Neurofibromatosis, Gene, neoplasms, pediatrics and adolescent medicine, Genetics, business.industry, neurology, General Medicine, medicine.disease, eye diseases, nervous system diseases, Chromosome 17 (human), ophthalmology, business
Abstract

This paper details a case of neurofibromatosis type 1 (NF1) in a genotype–phenotype correlation, and the complexity of pathogenic variants of NF1 gene make correlation difficult. Establishing correlation is useful for targeted therapeutic intervention., This paper details a case of neurofibromaYes. All Yes, everything is correct.tosis type 1 (NF1) in a genotype–phenotype correlation, and the complexity of pathogenic variants of NF1 gene make correlation difficult. Establishing correlation is useful for targeted therapeutic intervention.

Published
2021

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