Search Results - "Sukhanova, Natella V."

Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94) and Chromosome 21 Trisomy in the Same Patient by Vasilyeva, Tatyana A., Sukhanova, Natella V., Marakhonov, Andrey V., Kuzina, Natalia Yu, Shilova, Nadezhda V., Kadyshev, Vitaly V., Kutsev, Sergey I., Zinchenko, Rena A.

“…This study aims to present a clinical case involving the unique co-occurrence of congenital aniridia and Down syndrome in a young girl and to analyze the…”
Get full text

Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome by Marakhonov, Andrey V, Vasilyeva, Tatyana A, Minzhenkova, Marina E, Sukhanova, Natella V, Sparber, Peter A, Andreeva, Natalya A, Teleshova, Margarita V, Baybagisova, Fatima K-M, Shilova, Nadezhda V, Kutsev, Sergey I, Zinchenko, Rena A

“…Three years ago, our patient, at that time a 16-month-old boy, was discovered to have bilateral kidney lesions with a giant tumor in the right kidney…”
Get full text

An Unusual Presentation of Novel Missense Variant in PAX6 Gene: NM_000280.4:c.341A>G, p.(Asn114Ser) by Vasilyeva, Tatyana A, Sukhanova, Natella V, Khalanskaya, Olga V, Marakhonov, Andrey V, Prokhorov, Nikolai S, Kadyshev, Vitaly V, Skryabin, Nikolay A, Kutsev, Sergey I, Zinchenko, Rena A

“…This study investigates a unique and complex eye phenotype characterized by minimal iris defects, foveal hypoplasia, optic nerve coloboma, and severe posterior…”
Get full text

A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region by Vasilyeva, Tatyana A, Marakhonov, Andrey V, Minzhenkova, Marina E, Markova, Zhanna G, Petrova, Nika V, Sukhanova, Natella V, Koshkin, Philipp A, Pyankov, Denis V, Kanivets, Ilya V, Korostelev, Sergey A, Krynskaya, Irina A, Shilova, Nadezhda V, Kutsev, Sergey I, Kadyshev, Vitaly V, Zinchenko, Rena A

“…Because of the significant occurrence of "WAGR-region" deletions among de novo mutations detected in congenital aniridia, DNA diagnosis is critical for all…”
Get full text

Upstream ORF frameshift variants in the PAX6 5ʹUTR cause congenital aniridia by Filatova, Alexandra Y., Vasilyeva, Tatyana A., Marakhonov, Andrey V., Sukhanova, Natella V., Voskresenskaya, Anna A., Zinchenko, Rena A., Skoblov, Mikhail Y.

“…Congenital aniridia (AN) is a severe autosomal dominant panocular disorder associated with pathogenic variants in the PAX6 gene. Previously, we performed a…”
Get full text

Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome by Bobreshova, Anastasia M, Ionova, Sofya A, Kadyshev, Vitaly V, Sukhanova, Natella V, Viakhireva, Iuliia V, Filatova, Alexandra Yu, Zhurkova, Natalia V, Sparber, Peter A, Marakhonov, Andrey V, Vasilyeva, Tatyana A, Shchagina, Olga A, Kutsev, Sergey I, Zinchenko, Rena A

“…Hermansky-Pudlak syndrome (HPS) is a rare disease inherited in the autosomal recessive mode, including 11 clinical genetic subtypes. They are associated with…”
Get full text

LMO2 gene deletions significantly worsen the prognosis of Wilms’ tumor development in patients with WAGR syndrome by Marakhonov, Andrey V, Vasilyeva, Tatyana A, Voskresenskaya, Anna A, Sukhanova, Natella V, Kadyshev, Vitaly V, Kutsev, Sergey I, Zinchenko, Rena A

“…Abstract WAGR syndrome (OMIM #194072) is a rare genetic disorder that consists of development of Wilms’ tumor (nephroblastoma), aniridia, genitourinary…”
Get full text

Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6 -Associated Congenital Aniridia across the Russian Federation: A Nationwide Study by Vasilyeva, Tatyana A, Marakhonov, Andrey V, Voskresenskaya, Anna A, Kadyshev, Vitaly V, Sukhanova, Natella V, Minzhenkova, Marina E, Shilova, Nadezhda V, Latyshova, Alla A, Ginter, Evgeny K, Kutsev, Sergey I, Zinchenko, Rena A

“…This study investigates the distribution of -associated congenital aniridia (AN) and WAGR syndrome across Russian Federation (RF) districts while…”
Get full text

Preferentially Paternal Origin of De Novo 11p13 Chromosome Deletions Revealed in Patients with Congenital Aniridia and WAGR Syndrome by Vasilyeva, Tatyana A, Marakhonov, Andrey V, Sukhanova, Natella V, Kutsev, Sergey I, Zinchenko, Rena A

“…The frequency of pathogenic large chromosome rearrangements detected in patients with different Mendelian diseases is truly diverse and can be remarkably high…”
Get full text

GM2-gangliosidosis, type I (Tay – Sachs disease) in the pediatrician practice by Zhurkova, Natalia V., Vashakmadze, Nato D., Sukhanova, Natella V., Gordeeva, Olga B., Sergienko, Natalia S., Zaharova, Ekaterina Yu

“…Background. GM2-gangliosidosis, type I (Tay-Sachs disease) is rare hereditary disease caused by mutations in the HEXA gene encoding the alpha subunit of…”
Get full text

Digital Devices and Cognitive Functions in Children by Karkashadze, George A., Namazova-Baranova, Leyla S., Vishneva, Elena A., Sergeeva, Natalia Е., Gogberashvili, Tinatin Yu, Ulkina, Nadezhda A., Kaytukova, Elena V., Kratko, Dmitriy S., Kondratova, Svetlana E., Sadilloeva, Safarbegim Kh, Kurakina, Marina A., Rykunova, Anastasiya I., Yatsick, Leonid M., Povalyeva, Inessa A., Konstantinidi, Tatiana A., Bushueva, Daria A., Prudnikov, Pavel A., Sergienko, Natalia S., Nesterova, Yuliya V., Leonova, Elizaveta V., Gazalieva, Aishat M., Zelenkova, Irina V., Sukhanova, Natella V.

“…The other contributors confirmed the absence of a reportable conflict of interests   The influence of dynamically changing habits associated with the use of…”
Get full text

Co-Occurrence of Congenital Aniridia Due to Nonsense IPAX6/I Variant p. and Chromosome 21 Trisomy in the Same Patient by Vasilyeva, Tatyana A, Sukhanova, Natella V, Marakhonov, Andrey V, Kuzina, Natalia Yu, Shilova, Nadezhda V, Kadyshev, Vitaly V, Kutsev, Sergey I, Zinchenko, Rena A

“…This study aims to present a clinical case involving the unique co-occurrence of congenital aniridia and Down syndrome in a young girl and to analyze the…”
Get full text

Epidemiology of IPAX6/I Gene Pathogenic Variants and Expected Prevalence of IPAX6/I-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study by Vasilyeva, Tatyana A, Marakhonov, Andrey V, Voskresenskaya, Anna A, Kadyshev, Vitaly V, Sukhanova, Natella V, Minzhenkova, Marina E, Shilova, Nadezhda V, Latyshova, Alla A, Ginter, Evgeny K, Kutsev, Sergey I, Zinchenko, Rena A

“…This study investigates the distribution of PAX6-associated congenital aniridia (AN) and WAGR syndrome across Russian Federation (RF) districts while…”
Get full text

Levels of Neurospecific Peptides, Neurotransmitters and Neuroreceptor Markers in the Serum of Children with Various Sensory Disorders, Mild Cognitive Impairments and Other Neuropathology by Karkashadze, George A., Namazova-Baranova, Leyla S., Yatsik, Leonid M., Gordeeva, Olga B., Vishneva, Elena A., Efendieva, Kamilla E., Kaytukova, Elena V., Sukhanova, Natella V., Sergienko, Natalia S., Nesterova, Julia V., Kondratova, Svetlana E., Fatakhova, Madina T., Pashkov, Alexandr V., Naumova, Irina V., Zelenkova, Irina V., Gankovskiy, Viktor A., Gubanova, Svetlana G., Leonova, Elizaveta V., Pankova, Alina R., Alexeeva, Anna A., Bushueva, Daria A., Gogberashvili, Tinatin Yu, Kratko, Dmitriy S., Sadilloeva, Safarbegim H., Sergeeva, Natalia E., Kurakina, Marina A., Konstantinidi, Tatiana A., Povalyaeva, Inessa A., Soloshenko, Margarita A., Slipka, Mariya I., Altunin, Viktor V., Rykunova, Anastasiya I., Salimgareeva, Tatiana A., Prudnikov, Pavel A., Ulkina, Nadezhda A., Firumyantc, Alexey I., Shilko, Nikita S., Kazanceva, Julia E.

“…Background. The role of recently discovered neurospecific peptides in the pathogenesis of acute and progressive neurologic disorders, their neuroprotective…”
Get full text

Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94) and Chromosome 21 Trisomy in the Same Patient by Vasilyeva, Tatyana A, Sukhanova, Natella V, Marakhonov, Andrey V, Kuzina, Natalia Yu, Shilova, Nadezhda V, Kadyshev, Vitaly V, Kutsev, Sergey I, Zinchenko, Rena A

“…This study aims to present a clinical case involving the unique co-occurrence of congenital aniridia and Down syndrome in a young girl and to analyze the…”
Get full text