Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine.

Autor: Boyarchuk O; Department of Children's Diseases and Pediatric Surgery, I.Horbachevsky Ternopil National Medical University, Ternopil, Ukraine., Kostyuchenko L; Clinic of Pediatric Immunology and Rheumatology, Western Ukrainian Specialized Children's Medical Centre, Lviv, Ukraine., Akopyan H; Department of Diagnostic of Hereditary Pathology, Institute of Hereditary Pathology of the National Academy of Medical Sciences of Ukraine, Lviv, Ukraine., Bondarenko A; Department of Pediatrics, Immunology, Infectious and Rare Diseases, European Medical School, International European University, Kyiv, Ukraine., Volokha A; Department of Pediatrics, Pediatric Infectious Diseases, Immunology and Allergology, Shupyk National Healthcare University of Ukraine, Kyiv, Ukraine., Hilfanova A; Department of Pediatrics, Immunology, Infectious and Rare Diseases, European Medical School, International European University, Kyiv, Ukraine., Savchak I; Clinic of Pediatric Immunology and Rheumatology, Western Ukrainian Specialized Children's Medical Centre, Lviv, Ukraine., Nazarenko L; Department of Pediatrics, Cherkasy Regional Children's Hospital, Cherkasy, Ukraine., Yarema N; Department of Children's Diseases and Pediatric Surgery, I.Horbachevsky Ternopil National Medical University, Ternopil, Ukraine., Urbas O; Department of Pediatrics, Ivano-Frankivsk National Medical University, Ivano-Frankivsk, Ukraine., Hrabovska I; Department of Pediatrics Oncohematology, Volyn Regional Territorial Mother and Child Health Care Center, Lutsk, Ukraine., Lysytsia O; Department of Bone Marrow Transplantation and Intensive Megadose Chemotherapy and Immunotherapy, National Specialized Children's Hospital 'OHMATDYT', Kyiv, Ukraine., Budzyn A; Department of Bone Marrow Transplantation and Intensive Megadose Chemotherapy and Immunotherapy, National Specialized Children's Hospital 'OHMATDYT', Kyiv, Ukraine., Tykholaz O; Department of Propedeutics of Pediatric Diseases with Patient Care, National Pirogov Memorial Medical University, Vinnytsya, Ukraine., Ivanchuk M; Department of Pediatrics Oncohematology, Volyn Regional Territorial Mother and Child Health Care Center, Lutsk, Ukraine., Bastanohova O; Center of Specialized Pediatric Care, Poltava Regional Clinical Hospital named after M. V. Sklifosovsky, Poltava, Ukraine., Patskun E; Department of Faculty Therapy, Uzhhorod National University, Uzhhorod, Ukraine., Vasylenko N; Outpatient Department, Kherson Regional Children's Hospital, Kherson, Ukraine., Stepanovskyy Y; Department of Pediatrics, Immunology, Infectious and Rare Diseases, European Medical School, International European University, Kyiv, Ukraine., Chernyshova L; Department of Pediatrics, Pediatric Infectious Diseases, Immunology and Allergology, Shupyk National Healthcare University of Ukraine, Kyiv, Ukraine., Makukh H; Department of the Research and Biotechnology, Scientific Medical Genetic Center LeoGENE, Lviv, Ukraine.

Publikováno v: Frontiers in immunology [Front Immunol] 2024 Jun 28; Vol. 15, pp. 1428724. Date of Electronic Publication: 2024 Jun 28 (Print Publication: 2024).

Genetic data protection as an indispensable element of genomic medicine development.

Autor: Madej M; Institute of Political Science, University of Wroclaw, Wrocław, Poland, Karpiński P; Department of Genetics, Wroclaw Medical University, Wrocław, Poland. pawel.karpinski@umw.edu.pl, Akopyan H; Institute of Hereditary Pathology of National Academy of Medical Sciences of Ukraine, Lviv, Ukraine, Witt M; Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland, Sąsiadek MM; Department of Genetics, Wroclaw Medical University, Wrocław, Poland

Publikováno v: Polish archives of internal medicine [Pol Arch Intern Med] 2023 Feb 27; Vol. 133 (2). Date of Electronic Publication: 2023 Feb 10.

Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father.

Autor: Dushar M; SI Institute of Hereditary Pathology NAMS of Ukraine, Lviv, Ukraine., Nowaczyk J; Department of Paediatrics, Medical University of Warsaw, Warsaw, Poland., Pyrżak B; Department of Paediatrics and Endocrinology, Medical University of Warsaw, Warsaw, Poland., Akopyan H; SI Institute of Hereditary Pathology NAMS of Ukraine, Lviv, Ukraine., Śmigiel R; Department of Paediatrics, Division of Propaedeutic of Paediatrics and Rare Disorders, Medical University, Wroclaw, Poland., Walczak A; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Płoski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Szczałuba K; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2021 Dec; Vol. 64 (12), pp. 104368. Date of Electronic Publication: 2021 Oct 18.

sesA: A Program for the Analytic Computation of Solvent‐Excluded Surface Areas**.

Autor: Wang, Lincong¹ (AUTHOR) wanglincong@jlu.edu.cn

Publikováno v: ChemistryOpen. Dec2024, Vol. 13 Issue 12, p1-12. 12p.

Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5.

Autor: Sharapova SO; Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus., Pashchenko OE; Immunology Department, Pirogov Russian National Research Medical University, Moscow, Russia., Bondarenko AV; Department of Pediatric Infectious Diseases and Pediatric Immunology, Shupyk National Medical Academy of Postgraduate Education, Kiev, Ukraine., Vakhlyarskaya SS; Clinical Immunology and Rheumatology Department, Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University, Moscow, Russia., Prokofjeva T; Pediatric Clinic, Children's Clinical University Hospital, Riga, Latvia., Fedorova AS; Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus., Savchak I; Pediatric Department, West-Ukrainian Specialized Children's Medical Center, Lviv, Ukraine., Mareika Y; Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus., Valiev TT; Chemotherapy Hemoblastoses Department, Pediatric Oncology and Hematology Research Institute of N.N. Blokhin National Cancer Research Center of the Ministry of Health of Russian Federation, Moscow, Russia., Popa A; Propedevtica of Childhood Diseases Faculty, Pirogov Russian National Research Medical University, Moscow, Russia., Tuzankina IA; Institute of Immunology and Physiology of the Branch of the Russian Academy of Sciences, Federal State Autonomous Educational Intuition of Higher Professional Education (Ural Federal University of a Name of the First President of Russia, B.N. Yeltsin), Yekaterinburg, Russia., Vlasova EV; Clinical Department, Regional Children's Clinical Hospital №1, Yekaterinburg, Russia., Sakovich IS; Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus., Polyakova EA; Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus., Rumiantseva NV; Research Department, Republican Medical Center (Mother and Child), Minsk, Belarus., Naumchik IV; Research Department, Republican Medical Center (Mother and Child), Minsk, Belarus., Kulyova SA; Pediatric Oncology Department, N.N. Petrov National Medical Research Center of Oncology, St-Petersburg, Russia., Aleshkevich SN; Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus., Golovataya EI; Research Department, Republican Medical Center (Mother and Child), Minsk, Belarus., Minakovskaya NV; Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus., Belevtsev MV; Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus., Latysheva EA; Immunopathology Department, NRC Institute of Immunology FMBA, Moscow, Russia., Latysheva TV; Immunopathology Department, NRC Institute of Immunology FMBA, Moscow, Russia., Beznoshchenko AG; Department of Pediatric Oncology/Hematology, Regional Children's Hospital, Ryazan, Russia., Akopyan H; Institute of Hereditary Pathology of National Academy of Medical Sciences of Ukraine, Lviv, Ukraine., Makukh H; Institute of Hereditary Pathology of National Academy of Medical Sciences of Ukraine, Lviv, Ukraine., Kozlova O; West-Ukrainian Specialized Children's Medical Center, Lviv, Ukraine., Varabyou DS; Department of Ecologic Geography, Belarusian State University, Minsk, Belarus., Ballow M; Department of Pediatrics, University of South Florida at Johns Hopkins All Children's Hospital, Saint Petersburg, FL, United States., Ong MS; Department of Population Medicine, Harvard Medical School, Harvard Pilgrim Health Care, Boston, MA, United States., Walter JE; Department Pediatric Allergy/Immunology, University of South Florida at Johns Hopkins All Children's Hospital, Saint Petersburg, FL, United States., Kondratenko IV; Clinical Immunology and Rheumatology Department, Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University, Moscow, Russia., Kostyuchenko LV; Pediatric Department, West-Ukrainian Specialized Children's Medical Center, Lviv, Ukraine., Aleinikova OV; Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus.

Publikováno v: Frontiers in immunology [Front Immunol] 2021 Jan 08; Vol. 11, pp. 602482. Date of Electronic Publication: 2021 Jan 08 (Print Publication: 2020).