Maria E Lopatkina

Affiliations

Research Institute of Medical Genetics, Tomsk National Research Medical Center, Kooperativny Str, 5, Tomsk, Russia.

Publications (15)

Generation of the induced pluripotent stem cell line, ICAGi002-A, from unaffected carrier megabase scaled duplication involving the CNTN6 gene.

Stem cell research

Avec: M M Gridina , T V Nikitina , I E Pristyazhnyuk , A A Kashevarova , M E Lopatkina , S A Vasilyev , L P Nazarenko , I N Lebedev , O L Serov

Generation of iPSC line ICGi024-A from human skin fibroblasts of a patient with ring chromosome 18.

Stem cell research

Avec: A A Khabarova , I E Pristyazhnyuk , P A Orlova , T V Nikitina , A A Kashevarova , M E Lopatkina , E O Belyaeva , N N Sukhanova , L P Nazarenko , I N Lebedev , O L Serov

A cookbook for DNase Hi-C.

Epigenetics & chromatin

Avec: Maria Gridina , Evgeniy Mozheiko , Emil Valeev , Ludmila P Nazarenko , Zhanna G Markova , Maria I Yablonskaya , Viktoria Yu Voinova , Nadezhda V Shilova , Igor N Lebedev , Veniamin Fishman

Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing.

Biomedicines

Avec: Igor N Lebedev , Tatyana V Karamysheva , Eugeny A Elisaphenko , Alexey I Makunin , Daria I Zhigalina , Gleb V Drozdov , Aleksander D Cheremnykh , Natalia B Torkhova , Gulnara N Seitova , Stanislav A Vasilyev , Anna A Kashevarova , Ludmila P Nazarenko , Nikolay B Rubtsov

Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene.

Stem cell research

Avec: D I Zhigalina , A A Malakhova , O Yu Vasilyeva , E V Grigor'eva , A A Sivtsev , N A Kolesnikov , M E Lopatkina , R R Savchenko , I Zh Zhalsanova , A E Postrigan' , A A Zarubin , T V Nikitina , A O Bueverov , P O Bogomolov , S M Zakian , N A Skryabin

Differential DNA Methylation of the IMMP2L Gene in Families with Maternally Inherited 7q31.1 Microdeletions is Associated with Intellectual Disability and Developmental Delay.

Cytogenetic and genome research

Avec: Stanislav A Vasilyev , Nikolay A Skryabin , Anna A Kashevarova , Ekaterina N Tolmacheva , Renata R Savchenko , Oksana Yu Vasilyeva , Alexei A Zarubin , Veniamin S Fishman , Elena O Belyaeva , Miroslava O Filippova , Asia R Shorina , Arkadiy B Maslennikov , Olga L Shestovskikh , Tatyana A Gayner , Vida Čulić , Robert Vulić , Lyudmila P Nazarenko , Igor N Lebedev

A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.

Frontiers in genetics

Avec: T V Karamysheva , I N Lebedev , L I Minaycheva , L P Nazarenko , A A Kashevarova , D A Fedotov , N A Skryabin , M E Lopatkina , A D Cheremnykh , E A Fonova , T V Nikitina , E A Sazhenova , M M Skleimova , N A Kolesnikov , G V Drozdov , Y S Yakovleva , G N Seitova , K E Orishchenko , N B Rubtsov

46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study.

Genes

Avec: Anna A Kashevarova , Tatyana V Nikitina , Larisa I Mikhailik , Elena O Belyaeva , Stanislav A Vasilyev , Mariya E Lopatkina , Dmitry A Fedotov , Elizaveta A Fonova , Aleksei A Zarubin , Aleksei A Sivtsev , Nikolay A Skryabin , Lyudmila P Nazarenko , Igor N Lebedev

Generation of four iPSC lines from two siblings with a microdeletion at the CNTN6 gene and intellectual disability.

Stem cell research

Avec: T A Shnaider , I E Pristyazhnyuk , A G Menzorov , N M Matveeva , T V Nikitina , A A Khabarova , N A Skryabin , A A Kashevarova , M E Lopatkina , L P Nazarenko , I N Lebedev , O L Serov

Generation of iPS cell line (ICGi040-A) from skin fibroblasts of a patient with ring small supernumerary marker chromosome 4.

Stem cell research

Avec: M M Gridina , A R Nurislamov , J M Minina , M E Lopatkina , G V Drozdov , S A Vasilyev , L I Minaycheva , E O Belyaeva , T V Nikitina , A A Kashevarova , I N Lebedev , T V Karamysheva , N B Rubtsov , O L Serov

Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss.

Cytogenetic and genome research

Avec: Ekaterina N Tolmacheva , Anna A Kashevarova , Lyudmila P Nazarenko , Larisa I Minaycheva , Nikolay A Skryabin , Tatyana V Nikitina , Elena A Sazhenova , Elena O Belyaeva , Elizaveta A Fonova , Olga A Salyukova , Victor S Tarabykin , Igor N Lebedev

Establishment of an induced pluripotent stem cell line (ICGi025-A) from fibroblasts of a patient with 46,XY,r(8)/45,XY,-8 mosaicism.

Stem cell research

Avec: M M Gridina , T V Nikitina , P A Orlova , J M Minina , A A Kashevarova , Yu S Yakovleva , M E Lopatkina , S A Vasilyev , D A Fedotov , L I Mikhailik , L P Nazarenko , I N Lebedev , O L Serov

Complex biology of constitutional ring chromosomes structure and (in)stability revealed by somatic cell reprogramming.

Scientific reports

Avec: T V Nikitina , A A Kashevarova , M M Gridina , M E Lopatkina , A A Khabarova , Yu S Yakovleva , A G Menzorov , Yu A Minina , I E Pristyazhnyuk , S A Vasilyev , D A Fedotov , O L Serov , I N Lebedev

Skewed X-Chromosome Inactivation as a Possible Marker of X-Linked CNV in Women with Pregnancy Loss.

Cytogenetic and genome research

Avec: Elizaveta A Fonova , Ekaterina N Tolmacheva , Anna A Kashevarova , Elena A Sazhenova , Tatyana V Nikitina , Oksana Yu Vasilyeva , Aleksei А Zarubin , Tatyana N Aleksandrova , Sergey Yu Yuriev , Nikolay A Skryabin , Vadim A Stepanov , Igor N Lebedev

The Precise Breakpoint Mapping in Paracentric Inversion 10q22.2q23.3 by Comprehensive Cytogenomic Analysis, Multicolor Banding, and Single-Copy Chromosome Sequencing.

Biomedicines

Avec: Tatyana V Karamysheva , Tatyana A Gayner , Eugeny A Elisaphenko , Vladimir A Trifonov , Elvira G Zakirova , Konstantin E Orishchenko , Mariya A Prokhorovich , Nikolay A Skryabin , Igor N Lebedev , Nikolay B Rubtsov

Réseau de co-auteurs

T V Nikitina 8 collaborations

M E Lopatkina 8 collaborations

A A Kashevarova 7 collaborations

I N Lebedev 7 collaborations

Igor N Lebedev 7 collaborations

O L Serov 6 collaborations

L P Nazarenko 5 collaborations

Anna A Kashevarova 5 collaborations

Nikolay A Skryabin 5 collaborations

M M Gridina 4 collaborations

I E Pristyazhnyuk 4 collaborations

S A Vasilyev 4 collaborations

A A Khabarova 3 collaborations

Stanislav A Vasilyev 3 collaborations

N A Skryabin 3 collaborations

Ekaterina N Tolmacheva 3 collaborations

Elena O Belyaeva 3 collaborations

Lyudmila P Nazarenko 3 collaborations

D A Fedotov 3 collaborations

Tatyana V Nikitina 3 collaborations

Elizaveta A Fonova 3 collaborations

P A Orlova 2 collaborations

E O Belyaeva 2 collaborations

Ludmila P Nazarenko 2 collaborations

Tatyana V Karamysheva 2 collaborations

Eugeny A Elisaphenko 2 collaborations

Nikolay B Rubtsov 2 collaborations

N A Kolesnikov 2 collaborations

Oksana Yu Vasilyeva 2 collaborations

Tatyana A Gayner 2 collaborations

T V Karamysheva 2 collaborations

L I Minaycheva 2 collaborations

G V Drozdov 2 collaborations

N B Rubtsov 2 collaborations

A G Menzorov 2 collaborations

J M Minina 2 collaborations

Elena A Sazhenova 2 collaborations

Yu S Yakovleva 2 collaborations

N N Sukhanova 1 collaboration

Maria Gridina 1 collaboration

Evgeniy Mozheiko 1 collaboration

Emil Valeev 1 collaboration

Zhanna G Markova 1 collaboration

Maria I Yablonskaya 1 collaboration

Viktoria Yu Voinova 1 collaboration

Nadezhda V Shilova 1 collaboration

Veniamin Fishman 1 collaboration

Alexey I Makunin 1 collaboration

Daria I Zhigalina 1 collaboration

Gleb V Drozdov 1 collaboration

Aleksander D Cheremnykh 1 collaboration

Natalia B Torkhova 1 collaboration

Gulnara N Seitova 1 collaboration

D I Zhigalina 1 collaboration

A A Malakhova 1 collaboration

O Yu Vasilyeva 1 collaboration

E V Grigor'eva 1 collaboration

A A Sivtsev 1 collaboration

R R Savchenko 1 collaboration

I Zh Zhalsanova 1 collaboration

A E Postrigan' 1 collaboration

A A Zarubin 1 collaboration

A O Bueverov 1 collaboration

P O Bogomolov 1 collaboration

S M Zakian 1 collaboration

Renata R Savchenko 1 collaboration

Alexei A Zarubin 1 collaboration

Veniamin S Fishman 1 collaboration

Miroslava O Filippova 1 collaboration

Asia R Shorina 1 collaboration

Arkadiy B Maslennikov 1 collaboration

Olga L Shestovskikh 1 collaboration

Vida Čulić 1 collaboration

Robert Vulić 1 collaboration

A D Cheremnykh 1 collaboration

E A Fonova 1 collaboration

E A Sazhenova 1 collaboration

M M Skleimova 1 collaboration

Y S Yakovleva 1 collaboration

G N Seitova 1 collaboration

K E Orishchenko 1 collaboration

Larisa I Mikhailik 1 collaboration

Mariya E Lopatkina 1 collaboration

Dmitry A Fedotov 1 collaboration

Aleksei A Zarubin 1 collaboration

Aleksei A Sivtsev 1 collaboration

T A Shnaider 1 collaboration

N M Matveeva 1 collaboration

A R Nurislamov 1 collaboration

Larisa I Minaycheva 1 collaboration

Olga A Salyukova 1 collaboration

Victor S Tarabykin 1 collaboration

L I Mikhailik 1 collaboration

Yu A Minina 1 collaboration

Aleksei А Zarubin 1 collaboration

Tatyana N Aleksandrova 1 collaboration

Sergey Yu Yuriev 1 collaboration

Vadim A Stepanov 1 collaboration

Vladimir A Trifonov 1 collaboration

Elvira G Zakirova 1 collaboration

Konstantin E Orishchenko 1 collaboration

Mariya A Prokhorovich 1 collaboration