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Wyświetlanie 1-20 z 1816
Tytuł:
Nuclear pore pathology underlying multisystem proteinopathy type 3-related inclusion body myopathy.
Autorzy:
Izumi R; Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Ikeda K; Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.
Niihori T; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Suzuki N; Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.
Shirota M; Division of Interdisciplinary Medical Science, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
Funayama R; Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
Nakayama K; Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
Warita H; Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.
Tateyama M; Department of Neurology, National Hospital Organization Iwate Hospital, Ichinoseki, Japan.
Aoki Y; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Aoki M; Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Mar; Vol. 11 (3), pp. 577-592. Date of Electronic Publication: 2023 Dec 29.
Typ publikacji:
Journal Article
MeSH Terms:
Heterogeneous-Nuclear Ribonucleoprotein Group A-B*/genetics
Heterogeneous-Nuclear Ribonucleoprotein Group A-B*/metabolism
Amyotrophic Lateral Sclerosis*/genetics
Muscular Diseases*/metabolism
Humans ; Nuclear Pore/metabolism ; Nuclear Pore/pathology ; Muscle, Skeletal/metabolism ; Inclusion Bodies/metabolism ; Inclusion Bodies/pathology ; Nuclear Pore Complex Proteins/genetics ; Nuclear Pore Complex Proteins/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Molecular and clinical characterization of cardio‐facio‐cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndromeHow to cite this article: Narumi Y, Aoki Y, Niihori T, Neri G, Cavé H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RCM, Wilson LC, Gillessen‐Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y. 2007. Molecular and clinical characterization of cardio‐facio‐cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome. Am J Med Genet Part A 143A:799–807.
Autorzy:
Narumi, Yoko
Aoki, Yoko
Niihori, Tetsuya
Neri, Giovanni
Cavé, Hélène
Verloes, Alain
Nava, Caroline
Kavamura, Maria Ines
Okamoto, Nobuhiko
Kurosawa, Kenji
Hennekam, Raoul C.M.
Wilson, Louise C.
Gillessen‐Kaesbach, Gabriele
Wieczorek, Dagmar
Lapunzina, Pablo
Ohashi, Hirofumi
Makita, Yoshio
Kondo, Ikuko
Tsuchiya, Shigeru
Ito, Etsuro
Sameshima, Kiyoko
Kato, Kumi
Kure, Shigeo
Matsubara, Yoichi
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Źródło:
American Journal of Medical Genetics. Part A; April 2007, Vol. 143 Issue: 8 p799-807, 9p
Periodyk
Szczegóły
Tytuł:
Clinical decisions by the molecular tumor board on comprehensive genomic profiling tests in Japan: A retrospective observational study.
Autorzy:
Shirota H; Department of Clinical Oncology, Tohoku University Hospital, Sendai, Japan.
Komine K; Department of Clinical Oncology, Tohoku University Hospital, Sendai, Japan.
Takahashi M; Department of Clinical Oncology, Tohoku University Hospital, Sendai, Japan.
Takahashi S; Department of Clinical Oncology, Tohoku University Hospital, Sendai, Japan.
Miyauchi E; Department of Respiratory Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
Niizuma H; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
Tada H; Department of Breast and Endocrine Surgical Oncology, Tohoku University Graduate School of Medicine, Sendai, Japan.
Shimada M; Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan.
Niihori T; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Aoki Y; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Sugiyama I; Personalized Medicine Center, Tohoku University Hospital, Sendai, Japan.
Kawamura M; Personalized Medicine Center, Tohoku University Hospital, Sendai, Japan.
Yasuda J; Division of Molecular Cellular Oncology, Miyagi Cancer Center Research Institute, Natori, Japan.
Suzuki S; Department of Clinical Oncology, Yamagata University Faculty of Medicine, Yamagata, Japan.
Iwaya T; Molecular Therapeutics Laboratory, Department of Surgery, Iwate Medical University School of Medicine, Morioka, Japan.
Saito M; Department of Gastrointestinal Tract Surgery, Fukushima Medical University School of Medicine, Fukushima, Japan.
Saito T; Department of Breast Surgery, Japanese Red Cross Saitama Hospital, Saitama, Japan.
Shibata H; Department of Clinical Oncology, Graduate School of Medicine, Akita University, Akita, Japan.
Furukawa T; Department of Investigative Pathology, Tohoku University Graduate School of Medicine, Sendai, Japan.
Ishioka C; Department of Clinical Oncology, Tohoku University Hospital, Sendai, Japan.
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Źródło:
Cancer medicine [Cancer Med] 2023 Mar; Vol. 12 (5), pp. 6170-6181. Date of Electronic Publication: 2022 Oct 17.
Typ publikacji:
Observational Study; Journal Article
MeSH Terms:
Carcinoma, Non-Small-Cell Lung*/pathology
Lung Neoplasms*/pathology
Humans ; Retrospective Studies ; Japan ; High-Throughput Nucleotide Sequencing/methods ; Mutation ; Biomarkers, Tumor/genetics ; Genomics/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Comprehensive genomic profiling of a unique liposarcoma arising in a patient with Li-Fraumeni syndrome and the novel detection of c-myc amplification: a case report.
Autorzy:
Watanabe H; Department of Pathology, Tohoku University Hospital, 1-1 Seiryo-machi, Aoba-ku, Miyagi-ken, Sendai, Japan. .
Fujishima F; Department of Pathology, Tohoku University Hospital, 1-1 Seiryo-machi, Aoba-ku, Miyagi-ken, Sendai, Japan.
Motoi T; Department of Pathology, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan.
Aoyama Y; Department of Pathology, Tohoku University Hospital, 1-1 Seiryo-machi, Aoba-ku, Miyagi-ken, Sendai, Japan.
Niihori T; Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
Takahashi M; Department of Medical Oncology, Tohoku University Hospital, Sendai, Japan.
Umegaki S; Department of Medical Oncology, Tohoku University Hospital, Sendai, Japan.
Oishi H; Department of Thoracic Surgery, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan.
Tada H; Department of Breast and Endocrine Surgical Oncology, Graduate School of Medicine, Tohoku University, Sendai, Japan.
Ichinohasama R; Department of Hematopathology, Tohoku University Hospital, Sendai, Japan.
Sasano H; Department of Pathology, Tohoku University Hospital, 1-1 Seiryo-machi, Aoba-ku, Miyagi-ken, Sendai, Japan.
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Źródło:
Diagnostic pathology [Diagn Pathol] 2022 Dec 13; Vol. 17 (1), pp. 93. Date of Electronic Publication: 2022 Dec 13.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Li-Fraumeni Syndrome*/complications
Li-Fraumeni Syndrome*/diagnosis
Li-Fraumeni Syndrome*/genetics
Liposarcoma*/diagnosis
Liposarcoma*/genetics
Liposarcoma*/pathology
Liposarcoma, Myxoid*/diagnosis
Liposarcoma, Myxoid*/genetics
Liposarcoma, Myxoid*/pathology
Lipoma*/pathology
Female ; Humans ; Adult ; In Situ Hybridization, Fluorescence ; Genomics ; Proto-Oncogene Proteins c-mdm2/genetics ; Proto-Oncogene Proteins c-mdm2/analysis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel 8.57-kb deletion of the upstream region of PRKAR1A in a family with Carney complex.
Autorzy:
Ito S; Division of Molecular and Cellular Oncology, Miyagi Cancer Center Research Institute, Natori, Japan.
Hashimoto A; Division of Molecular and Cellular Oncology, Miyagi Cancer Center Research Institute, Natori, Japan.
Yamaguchi K; Division of Molecular and Cellular Oncology, Miyagi Cancer Center Research Institute, Natori, Japan.
Kawamura S; Division of Urology, Miyagi Cancer Center Hospital, Natori, Japan.
Myoen S; Division of Urology, Miyagi Cancer Center Hospital, Natori, Japan.
Ogawa M; Division of Genetic Counseling, Miyagi Cancer Center Hospital, Natori, Japan.; Department of Maternal and Fetal Medicine, Miyagi Children's Hospital, Sendai, Japan.
Sato I; Division of Pathology, Miyagi Cancer Center Hospital, Natori, Japan.
Minato T; Division of Molecular and Cellular Oncology, Miyagi Cancer Center Research Institute, Natori, Japan.
Miyabe S; Division of Molecular and Cellular Oncology, Miyagi Cancer Center Research Institute, Natori, Japan.
Nakazato A; Division of Head and Neck Surgery, Miyagi Cancer Center Hospital, Natori, Japan.
Fujii K; Division of Head and Neck Surgery, Miyagi Cancer Center Hospital, Natori, Japan.
Mochizuki M; Division of Cancer Stem Cells, Miyagi Cancer Center Research Institute, Natori, Japan.
Fujimori H; Division of Cancer Stem Cells, Miyagi Cancer Center Research Institute, Natori, Japan.
Tamai K; Division of Cancer Stem Cells, Miyagi Cancer Center Research Institute, Natori, Japan.
Niihori T; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Aoki Y; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Sugawara A; Department of Molecular Endocrinology, Tohoku University Graduate School of Medicine, Sendai, Japan.
Sasano H; Department of Anatomic Pathology, Tohoku University Graduate School of Medicine, Sendai, Japan.
Shima H; Division of Cancer Chemotherapy, Miyagi Cancer Center Research Institute, Sendai, Japan.
Yasuda J; Division of Molecular and Cellular Oncology, Miyagi Cancer Center Research Institute, Natori, Japan.; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Mar; Vol. 10 (3), pp. e1884. Date of Electronic Publication: 2022 Feb 06.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Carney Complex*/diagnosis
Carney Complex*/genetics
Carney Complex*/pathology
Myxoma*/genetics
Myxoma*/pathology
Adult ; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit/genetics ; Exons ; Humans ; Luciferases ; Male
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report.
Autorzy:
Hesami, Hamed (AUTHOR)
Ghasemi, Serwa (AUTHOR)
Houshmand, Golnaz (AUTHOR)
Nilipour, Yalda (AUTHOR)
Hesami, Mahshid (AUTHOR)
Biglari, Alireza (AUTHOR)
Nafissi, Shahriar (AUTHOR)
Maleki, Majid (AUTHOR)
Kalayinia, Samira (AUTHOR)
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Źródło:
BMC Musculoskeletal Disorders. 3/27/2024, Vol. 25, p1-11. 11p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Molecular Profiling of Syringocystadenocarcinoma Papilliferum Reveals RAS-Activating Mutations.
Autorzy:
Cornejo, Kristine M.
Hutchinson, Lloyd
O'Donnell, Patrick
Xiuling Meng
Tomaszewicz, Keith
Shalin, Sara C.
Cassarino, David S.
Chan, May P.
Quinn, Timothy R.
Googe, Paul B.
Nazarian, Rosalynn M.
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Źródło:
Archives of Pathology & Laboratory Medicine. Feb2024, Vol. 148 Issue 2, p215-222. 8p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.
Autorzy:
Wada Y; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
Kikuchi A; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
Kaga A; Department of Pediatrics, Tohoku Kosai Hospital, Sendai, Miyagi, Japan.
Shimizu N; Food and Biodynamic Chemistry Laboratory, Graduate School of Agricultural Science, Tohoku University, Sendai, Miyagi, Japan.
Ito J; Food and Biodynamic Chemistry Laboratory, Graduate School of Agricultural Science, Tohoku University, Sendai, Miyagi, Japan.
Onuma R; Food and Biodynamic Chemistry Laboratory, Graduate School of Agricultural Science, Tohoku University, Sendai, Miyagi, Japan.
Fujishima F; Department of Anatomic Pathology, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
Totsune E; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
Sato R; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
Niihori T; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
Shirota M; Division of Interdisciplinary Medical Sciences, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
Funayama R; Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
Sato K; Department of Ophthalmology, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.; Collaborative Program for Ophthalmic Drug Discovery, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
Nakazawa T; Department of Ophthalmology, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.; Collaborative Program for Ophthalmic Drug Discovery, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.; Department of Retinal Disease Control, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.; Department of Advanced Ophthalmic Medicine, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.; Department of Ophthalmic Imaging and Information Analytics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
Nakayama K; Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
Aoki Y; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
Aiba S; Department of Dermatology, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
Nakagawa K; Food and Biodynamic Chemistry Laboratory, Graduate School of Agricultural Science, Tohoku University, Sendai, Miyagi, Japan.
Kure S; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
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Źródło:
PLoS genetics [PLoS Genet] 2020 Feb 26; Vol. 16 (2), pp. e1008628. Date of Electronic Publication: 2020 Feb 26 (Print Publication: 2020).
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cataract/*genetics
Epidermis/*pathology
Hypotrichosis/*genetics
Intramolecular Transferases/*genetics
Lens, Crystalline/*pathology
Adolescent ; Animals ; Cataract/congenital ; Cataract/pathology ; Cholesterol/metabolism ; DNA Mutational Analysis ; Disease Models, Animal ; Epidermis/enzymology ; Holistic Health ; Humans ; Hypotrichosis/congenital ; Hypotrichosis/pathology ; Intramolecular Transferases/metabolism ; Lanosterol/analysis ; Lanosterol/metabolism ; Lens, Crystalline/enzymology ; Male ; Mice ; Mice, Knockout ; Mutation ; Pedigree ; Sebum/chemistry ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis.
Autorzy:
Ozeki M; Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido 1-1, Gifu, 501-1194, Japan. .
Aoki Y; Department of Medical Genetics, Tohoku University School of Medicine, Sendai, 980-8574, Japan. .
Nozawa A; Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido 1-1, Gifu, 501-1194, Japan.
Yasue S; Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido 1-1, Gifu, 501-1194, Japan.
Endo S; Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido 1-1, Gifu, 501-1194, Japan.
Hori Y; Department of Pathology, Graduate School of Medicine, Osaka University, Osaka, 565-0871, Japan.
Matsuoka K; Department of Pathology, Dokkyo Medical University Saitama Medical Center, Saitama, 343-8555, Japan.
Niihori T; Department of Medical Genetics, Tohoku University School of Medicine, Sendai, 980-8574, Japan.
Funayama R; Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, 980-8575, Japan.
Shirota M; Division of Interdisciplinary Medical Science, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, 980-8575, Japan.
Nakayama K; Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, 980-8575, Japan.
Fukao T; Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido 1-1, Gifu, 501-1194, Japan.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Sep 11; Vol. 14 (1), pp. 215. Date of Electronic Publication: 2019 Sep 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cell-Free Nucleic Acids/*metabolism
GTP Phosphohydrolases/*genetics
Lymphangioleiomyomatosis/*metabolism
Lymphangioleiomyomatosis/*pathology
Membrane Proteins/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Liquid Biopsy ; Male ; Mutation/genetics ; Prognosis ; Exome Sequencing ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Co-occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death.
Autorzy:
Tamura A; Department of Hematology and Oncology Kobe Children's Hospital Kobe Japan.
Uemura S; Department of Hematology and Oncology Kobe Children's Hospital Kobe Japan.; Department of Pediatrics Kobe University School of Medicine Kobe Japan.
Matsubara K; Department of Pediatrics Kobe City Nishi-Kobe Medical Center Kobe Japan.
Kozuki E; Department of Pediatrics Kobe City Nishi-Kobe Medical Center Kobe Japan.
Tanaka T; Department of Cardiology Kobe Children's Hospital Kobe Japan.
Nino N; Department of Hematology and Oncology Kobe Children's Hospital Kobe Japan.; Department of Pediatrics Kobe University School of Medicine Kobe Japan.
Yokoi T; Department of Hematology and Oncology Kobe Children's Hospital Kobe Japan.; Department of Pediatrics Osaka University Hospital Suita Japan.
Saito A; Department of Hematology and Oncology Kobe Children's Hospital Kobe Japan.
Ishida T; Department of Hematology and Oncology Kobe Children's Hospital Kobe Japan.
Hasegawa D; Department of Hematology and Oncology Kobe Children's Hospital Kobe Japan.
Umeki I; Department of Medical Genetics Tohoku University School of Medicine Sendai Japan.
Niihori T; Department of Medical Genetics Tohoku University School of Medicine Sendai Japan.
Nakazawa Y; Department of Pediatrics Shinshu University School of Medicine Matsumoto Japan.
Koike K; Department of Pediatrics Shinonoi General Hospital Minami Nagano Medical Center Nagano Japan.
Aoki Y; Department of Medical Genetics Tohoku University School of Medicine Sendai Japan.
Kosaka Y; Department of Hematology and Oncology Kobe Children's Hospital Kobe Japan.
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Źródło:
Clinical case reports [Clin Case Rep] 2018 May 08; Vol. 6 (7), pp. 1202-1207. Date of Electronic Publication: 2018 May 08 (Print Publication: 2018).
Typ publikacji:
Case Reports
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 1816

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