Марахонов Андрей Владимирович
пользователь
кандидат биологических наук
Федеральное государственное бюджетное научное учреждение «Медико-генетический научный центр имени академика Н.П. Бочкова»
Количество цитирований статей в журналах по данным
Web of Science: 93,
Scopus: 93
РИНЦ:
IstinaResearcherID (IRID): 137475273
Деятельность
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Статьи в журналах
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2020
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis
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Marakhonov Andrey V.,
Voskresenskaya Anna A.,
Ballesta Maria Jose,
Konovalov Fedor A.,
Vasilyeva Tatyana A.,
Blanco-Kelly Fiona,
Pozdeyeva Nadezhda A.,
Kadyshev Vitaly V.,
López-González Vanesa,
Guillen Encarna,
Ayuso Carmen,
Zinchenko Rena A.,
Corton Marta
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в журнале Orphanet Journal of Rare Diseases, издательство BioMed Central (London), том 15
DOI
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2019
LMO2 gene deletions significantly worsen the prognosis of Wilms’ tumor development in patients with WAGR syndrome
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Marakhonov Andrey V.,
Vasilyeva Tatyana A.,
Voskresenskaya Anna A.,
Sukhanova Natella V.,
Kadyshev Vitaly V.,
Kutsev Sergey I.,
Zinchenko Rena A.
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в журнале Human Molecular Genetics, издательство Oxford University Press (United Kingdom), том 28, № 19, с. 3323-3326
DOI
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2019
Noncompaction cardiomyopathy is caused by a novel in-frame desmin ( DES ) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect
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Marakhonov Andrey V.,
Brodehl Andreas,
Myasnikov Roman P.,
Sparber Peter A.,
Kiseleva Anna V.,
Kulikova Olga V.,
Meshkov Alexey N.,
Zharikova Anastasia A.,
Koretsky Serguey N.,
Kharlap Maria S.,
Stanasiuk Caroline,
Mershina Elena A.,
Sinitsyn Valentin E.,
Shevchenko Alexey O.,
Mozheyko Natalia P.,
Drapkina Oksana M.,
Boytsov Sergey A.,
Milting Hendrik,
Skoblov Mikhail Yu
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в журнале Human Mutation, издательство John Wiley & Sons Inc. (United States), том 40, № 6, с. 734-741
DOI
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2018
Hereditary disorders in Circassians of the Karachay-Cherkess Republic
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Zinchenko RA,
Makaov AKh,
Galkina VA,
Dadali EL,
Khlebnikova OV,
El’chinova GI,
Mikhailova LK,
Marakhonov AV,
Vasilyeva TA,
Gundorova P.,
Tanas AS,
Strelnikov Polyakov AV,
Ginter EK
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в журнале Russian Journal of Genetics, издательство Maik Nauka/Interperiodica Publishing (Russian Federation), том 54, № 1, с. 83-90
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2018
Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders
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Marakhonov AV,
Konovalov FA,
Makaov AK,
Vasilyeva TA,
Kadyshev Galkina VA,
Dadali EL,
Kutsev SI,
Zinchenko RA
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в журнале BMC Medical Genetics, издательство BioMed Central (London), том 11, № 1, с. 91-95
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2017
Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations
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Vasilyeva TA,
Voskresenskaya AA,
Käsmann-Kellner B.,
Khlebnikova OV,
Pozdeyeva NA,
Bayazutdinova GM,
Kutsev SI,
Ginter EK,
Semina EV,
Marakhonov AV,
Zinchenko RA
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в журнале Clinical Genetics, издательство Blackwell Publishing Inc. (United Kingdom), том 92, № 6, с. 639-644
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2016
Autosomal recessive hypotrichosis with woolly hair caused by a mutation in the Keratin 25 gene expressed in hair follicles
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Zernov NV,
Skoblov MY,
Marakhonov AV,
Shimomura Y.,
Vasilyeva TA,
Konovalov FA,
Abrukova AV,
Zinchenko RA
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в журнале Journal of Investigative Dermatology, издательство Blackwell Publishing Inc. (United Kingdom), том 136, № 6, с. 1097-1105
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2015
A Clinical and Molecular Analysis of Branchio-Oculo-Facial Syndrome Patients in Russia Revealed New Mutations in TFAP2A
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Meshcheryakova Tatiana I.,
Zinchenko Rena A.,
Vasilyeva Tatiana A.,
Marakhonov Andrey V.,
Zhylina Svetlana S.,
Petrova Nika V.,
Kozhanova Tatiana V.,
Belenikin Maxim S.,
Petrin Alexander N.,
Mutovin Gennady R.
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в журнале Annals of Human Genetics, издательство Blackwell Publishing Inc. (United Kingdom), том 79, № 2, с. 148-152
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2013
Protein partners of KCTD proteins provide insights about their functional roles in cell differentiation and vertebrate development
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Skoblov Mikhail,
Marakhonov Andrey,
Marakasova Ekaterina,
Guskova Anna,
Chandhoke Vikas,
Birerdinc Aybike,
Baranova Ancha
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в журнале BioEssays, издательство John Wiley & Sons Inc. (United States), том 35, № 7, с. 586-596
DOI
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2010
Inhibition of potassium currents as a pharmacologic target for investigation in chronic lymphocytic leukemia
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Biderman B.,
Marakhonov A.,
Skoblov M.,
Birerdinc A.,
Nohelty E.,
Page S.,
Khomenkov V.,
Chandhoke V.,
Sudarikov A.,
Nikitin E.
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в журнале Drug News and Perspectives, издательство J.R. Prous (Spain), том 23, № 10, с. 625
DOI
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