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Tytuł:
Identification of an NF1 Microdeletion with Optical Genome Mapping.
Autorzy:
Büki G; Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7624 Pécs, Hungary.
Bekő A; HCEMM-SE Molecular Oncohematology Research Group, Department of Pathology and Experimental Cancer Research, Semmelweis University, 1085 Budapest, Hungary.
Bödör C; HCEMM-SE Molecular Oncohematology Research Group, Department of Pathology and Experimental Cancer Research, Semmelweis University, 1085 Budapest, Hungary.
Urbán P; Bioinformatics Research Group, Genomics and Bioinformatics Core Facility, Szentágothai Research Centre, University of Pécs, 7624 Pécs, Hungary.
Németh K; Pediatric Center, Tűzoltó Street Department, Faculty of Medicine, Semmelweis University, 1094 Budapest, Hungary.
Hadzsiev K; Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7624 Pécs, Hungary.
Fekete G; Pediatric Center, Tűzoltó Street Department, Faculty of Medicine, Semmelweis University, 1094 Budapest, Hungary.
Kehrer-Sawatzki H; Institut of Human Genetics, University of Ulm, 89081 Ulm, Germany.
Bene J; Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7624 Pécs, Hungary.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Sep 01; Vol. 24 (17). Date of Electronic Publication: 2023 Sep 01.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Neurofibromatosis 1*/genetics
Megalencephaly*
Humans ; DNA Copy Number Variations ; Genes, Neurofibromatosis 1 ; Chromosome Mapping
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Neurofibromatosis type 1 system-based manifestations and treatments: a review.
Autorzy:
Saleh M; Faculty of Medical Sciences, Lebanese University, Beirut, Lebanon.
Dib A; Faculty of Medicine & Medical Sciences, University of Balamand, Koura, Lebanon.
Beaini S; Faculty of Medicine, Université Saint Joseph de Beirut, Damascus Street, Lebanon.
Saad C; Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Faraj S; Department of Anatomy, Cell Biology, and Physiological Cell Sciences, AUB- FM and MC, Beirut, Lebanon.
El Joueid Y; Department of Medicine, School of Health Sciences, University of Georgia, Tbilisi, Georgia.
Kotob Y; Faculty of Medicine, Université Saint Joseph de Beirut, Damascus Street, Lebanon.
Saoudi L; Faculty of Medical Sciences, Lebanese University, Beirut, Lebanon.
Emmanuel N; Department of Dermatology, Faculty of Medicine of the University of São Paulo, São Paulo, Brazil. .
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2023 Jun; Vol. 44 (6), pp. 1931-1947. Date of Electronic Publication: 2023 Feb 24.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Neurofibromatosis 1*/complications
Neurofibromatosis 1*/genetics
Neurofibromatosis 1*/therapy
Humans ; Genes, Neurofibromatosis 1 ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Icariin Promotes Osteogenic Differentiation in a Cell Model with NF1 Gene Knockout by Activating the cAMP/PKA/CREB Pathway.
Autorzy:
Chen M; Shandong Center for Disease Control and Prevention, Jinan 250014, China.; Department of Medicinal Chemistry, Key Laboratory of Chemical Biology (Ministry of Education), School of Pharmaceutical Sciences, Shandong University, Jinan 250012, China.; Shandong Qidu Pharmaceutical Co., Ltd., Shandong Provincial Key Laboratory of Neuroprotective Drugs, Zibo 255400, China.
Lu L; Shandong Center for Disease Control and Prevention, Jinan 250014, China.
Cheng D; Shandong Center for Disease Control and Prevention, Jinan 250014, China.
Zhang J; Shandong Center for Disease Control and Prevention, Jinan 250014, China.
Liu X; Department of Medicinal Chemistry, Key Laboratory of Chemical Biology (Ministry of Education), School of Pharmaceutical Sciences, Shandong University, Jinan 250012, China.
Zhang J; Shandong Qidu Pharmaceutical Co., Ltd., Shandong Provincial Key Laboratory of Neuroprotective Drugs, Zibo 255400, China.
Zhang T; Shandong Center for Disease Control and Prevention, Jinan 250014, China.
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Źródło:
Molecules (Basel, Switzerland) [Molecules] 2023 Jun 30; Vol. 28 (13). Date of Electronic Publication: 2023 Jun 30.
Typ publikacji:
Journal Article
MeSH Terms:
Neurofibromatosis 1*/drug therapy
Neurofibromatosis 1*/genetics
Neurofibromatosis 1*/metabolism
Bone Diseases*/metabolism
Humans ; Osteogenesis/genetics ; Genes, Neurofibromatosis 1 ; Gene Knockout Techniques ; Cell Differentiation/genetics ; Osteoblasts
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Superimposed Mosaicism in the Form of Extremely Extended Segmental Plexiform Neurofibroma Caused by a Novel Pathogenic Variant in the NF1 Gene.
Autorzy:
Veres K; Department of Pediatric Dermatology, Heim Pal National Children's Institute, 1089 Budapest, Hungary.
Bene J; Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7622 Pécs, Hungary.
Hadzsiev K; Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7622 Pécs, Hungary.
Garami M; Pediatric Center, Faculty of Medicine, Semmelweis University, 1085 Budapest, Hungary.
Pálla S; Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1085 Budapest, Hungary.
Happle R; Department of Dermatology, Medical Center-University of Freiburg, 79104 Freiburg, Germany.
Medvecz M; Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1085 Budapest, Hungary.
Szalai ZZ; Department of Pediatric Dermatology, Heim Pal National Children's Institute, 1089 Budapest, Hungary.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Jul 29; Vol. 24 (15). Date of Electronic Publication: 2023 Jul 29.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Neurofibroma, Plexiform*/genetics
Neurofibromatosis 1*/genetics
Female ; Humans ; Child ; Genes, Neurofibromatosis 1 ; Mosaicism ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A novel mutation in neurofibromatosis type 1.
Autorzy:
Luo Z; Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
Tao X; Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
Jin Z; Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
Wang Z; Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
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Źródło:
Indian journal of dermatology, venereology and leprology [Indian J Dermatol Venereol Leprol] 2023 May-Jun; Vol. 89 (3), pp. 453-455.
Typ publikacji:
Letter
MeSH Terms:
Neurofibromatosis 1*/diagnosis
Neurofibromatosis 1*/genetics
Humans ; Mutation/genetics ; DNA Mutational Analysis ; Genes, Neurofibromatosis 1
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1.
Autorzy:
Yang L; Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, 50200, Thailand.; Key Laboratory of Epigenetics and Oncology, the Research Center for Preclinical Medicine, Southwest Medical University, 3-319, Zhongshan Rd, Luzhou, Sichuan, 646000, China.; Department of Obstetrics, the Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, 646000, China.
Fu J; Key Laboratory of Epigenetics and Oncology, the Research Center for Preclinical Medicine, Southwest Medical University, 3-319, Zhongshan Rd, Luzhou, Sichuan, 646000, China.
Cheng J; Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, 50200, Thailand.; Key Laboratory of Epigenetics and Oncology, the Research Center for Preclinical Medicine, Southwest Medical University, 3-319, Zhongshan Rd, Luzhou, Sichuan, 646000, China.
Zhou B; Key Laboratory of Epigenetics and Oncology, the Research Center for Preclinical Medicine, Southwest Medical University, 3-319, Zhongshan Rd, Luzhou, Sichuan, 646000, China.; Department of Gynecology and Obstetrics, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.
Chen M; Department of Obstetrics, the Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, 646000, China.
Anuchapreeda S; Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, 50200, Thailand. .; Research Center of Pharmaceutical Nanotechnology, Chiang Mai University, Chiang Mai, 50200, Thailand. .
Fu J; Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, 50200, Thailand. .; Key Laboratory of Epigenetics and Oncology, the Research Center for Preclinical Medicine, Southwest Medical University, 3-319, Zhongshan Rd, Luzhou, Sichuan, 646000, China. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2023 Apr 24; Vol. 16 (1), pp. 85. Date of Electronic Publication: 2023 Apr 24.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Neurofibromatosis 1*/diagnosis
Neurofibromatosis 1*/genetics
Neurofibromatosis 1*/pathology
Female ; Humans ; Cafe-au-Lait Spots/diagnosis ; Cafe-au-Lait Spots/genetics ; East Asian People ; Genes, Neurofibromatosis 1 ; Neurofibromin 1/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Deletion of Cd44 Inhibits Metastasis Formation of Liver Cancer in Nf2 -Mutant Mice.
Autorzy:
Gerardo-Ramírez M; Department of Medicine I, University Medical Center of the Johannes Gutenberg University, 55131 Mainz, Germany.
Giam V; Department of Medicine I, University Medical Center of the Johannes Gutenberg University, 55131 Mainz, Germany.
Becker D; Department of Medicine I, University Medical Center of the Johannes Gutenberg University, 55131 Mainz, Germany.
Groth M; Leibniz Institute on Aging-Fritz Lipmann Institute (FLI), 07745 Jena, Germany.
Hartmann N; Institute of Pathology, University Medical Center of the Johannes Gutenberg University, 55131 Mainz, Germany.
Morrison H; Leibniz Institute on Aging-Fritz Lipmann Institute (FLI), 07745 Jena, Germany.; Faculty of Biological Sciences, Friedrich-Schiller University, 07745 Jena, Germany.
May-Simera HL; Cilia Cell Biology, Institute of Molecular Physiology, Johannes Gutenberg University, 55128 Mainz, Germany.
Radsak MP; Department of Medicine III, University Medical Center of the Johannes Gutenberg University, 55131 Mainz, Germany.
Marquardt JU; Department of Medicine I, University Medical Center Schleswig-Holstein, Campus Lübeck, 23558 Lübeck, Germany.
Galle PR; Department of Medicine I, University Medical Center of the Johannes Gutenberg University, 55131 Mainz, Germany.
Herrlich P; Leibniz Institute on Aging-Fritz Lipmann Institute (FLI), 07745 Jena, Germany.
Straub BK; Institute of Pathology, University Medical Center of the Johannes Gutenberg University, 55131 Mainz, Germany.
Hartmann M; Department of Medicine I, University Medical Center of the Johannes Gutenberg University, 55131 Mainz, Germany.
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Źródło:
Cells [Cells] 2023 Apr 26; Vol. 12 (9). Date of Electronic Publication: 2023 Apr 26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Bile Duct Neoplasms*/genetics
Carcinoma, Hepatocellular*/genetics
Cholangiocarcinoma*/genetics
Hyaluronan Receptors*/genetics
Liver Neoplasms*/genetics
Neurofibromatosis 2*/genetics
Animals ; Humans ; Mice ; Bile Ducts, Intrahepatic ; Genes, Neurofibromatosis 2 ; Neurofibromin 2/genetics ; Neurofibromin 2/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Robotic resection for splenic artery aneurysm associated with neurofibromatosis type 1: a case report.
Autorzy:
Ueda A; Department of Gastroenterological Surgery, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, Aichi, 4678601, Japan.
Saito K; Department of Gastroenterological Surgery, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, Aichi, 4678601, Japan. .
Murase H; Department of Gastroenterological Surgery, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, Aichi, 4678601, Japan.
Kato T; Department of Gastroenterological Surgery, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, Aichi, 4678601, Japan.
Imafuji H; Department of Gastroenterological Surgery, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, Aichi, 4678601, Japan.
Morimoto M; Department of Gastroenterological Surgery, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, Aichi, 4678601, Japan.
Ogawa R; Department of Gastroenterological Surgery, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, Aichi, 4678601, Japan.
Takahashi H; Department of Gastroenterological Surgery, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, Aichi, 4678601, Japan.
Matsuo Y; Department of Gastroenterological Surgery, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, Aichi, 4678601, Japan.
Takiguchi S; Department of Gastroenterological Surgery, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, Aichi, 4678601, Japan.
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Źródło:
Journal of medical case reports [J Med Case Rep] 2024 Mar 14; Vol. 18 (1), pp. 104. Date of Electronic Publication: 2024 Mar 14.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Aneurysm*/complications
Aneurysm*/diagnostic imaging
Aneurysm*/surgery
Neurofibromatosis 1*/complications
Robotic Surgical Procedures*
Adult ; Female ; Humans ; Splenic Artery/diagnostic imaging ; Splenic Artery/surgery ; Vascular Surgical Procedures
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Pilot study of the effectiveness of a telehealth group for improving peer relationships for adolescents with neurofibromatosis type 1.
Autorzy:
Glad DM; Department of Psychology, University of Wisconsin- Milwaukee, 2441 E Hartford Ave, Wisconsin, 53211, Milwaukee, USA. .
Pardej SK; Department of Psychology, University of Wisconsin- Milwaukee, 2441 E Hartford Ave, Wisconsin, 53211, Milwaukee, USA.
Olszewski E; Department of Psychology, University of Wisconsin- Milwaukee, 2441 E Hartford Ave, Wisconsin, 53211, Milwaukee, USA.
Klein-Tasman BP; Department of Psychology, University of Wisconsin- Milwaukee, 2441 E Hartford Ave, Wisconsin, 53211, Milwaukee, USA.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 12; Vol. 19 (1), pp. 115. Date of Electronic Publication: 2024 Mar 12.
Typ publikacji:
Journal Article
MeSH Terms:
Neurofibromatosis 1*
Telemedicine*
Humans ; Adolescent ; Pilot Projects ; Peer Group ; Social Skills
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Impact of neurofibromatosis type 1 on quality of life using the Skindex-29 questionnaire quality of life in NF1.
Autorzy:
Cieza Rivera AM; Faculty of Health Sciences, Department of Biomedical Sciences, Area of Preventive Medicine and Public Health, Universidad de León, León, Spain.
Lobato Fuertes C; Ophtalmologic Department, Complejo Asistencial Universitario de León, León, Spain.
Fernández-Villa T; Faculty of Health Sciences, Department of Biomedical Sciences, Area of Preventive Medicine and Public Health, Universidad de León, León, Spain.; Research Group in interactions gene- environmental and health (GIIGAS), Institute of Biomedicine, University of León, León, Spain.; Epidemiology and Public Health Networking Biomedical Research Centre (CIBERESP), Madrid, Spain.
Martín Sánchez V; Faculty of Health Sciences, Department of Biomedical Sciences, Area of Preventive Medicine and Public Health, Universidad de León, León, Spain.; Research Group in interactions gene- environmental and health (GIIGAS), Institute of Biomedicine, University of León, León, Spain.; Epidemiology and Public Health Networking Biomedical Research Centre (CIBERESP), Madrid, Spain.
Atallah I; Faculty of Health Sciences, Department of Biomedical Sciences, Area of Preventive Medicine and Public Health, Universidad de León, León, Spain. .; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 24; Vol. 19 (1), pp. 85. Date of Electronic Publication: 2024 Feb 24.
Typ publikacji:
Journal Article
MeSH Terms:
Neurofibromatosis 1*/pathology
Humans ; Female ; Adult ; Quality of Life/psychology ; Surveys and Questionnaires ; Emotions ; Pruritus/complications
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Segmental spinal neurofibromatosis 1: a novel phenotype.
Autorzy:
Fatima N; Department of Neurosurgery, House Clinic, The House Institute Foundation, Los Angeles, CA, USA. .
La Dine A; Department of Neurosurgery, House Clinic, The House Institute Foundation, Los Angeles, CA, USA.
Barnard ZR; Department of Neurosurgery, House Clinic, The House Institute Foundation, Los Angeles, CA, USA.
Lekovic GP; Department of Neurosurgery, House Clinic, The House Institute Foundation, Los Angeles, CA, USA.
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2022 Aug; Vol. 43 (8), pp. 5103-5105. Date of Electronic Publication: 2022 May 20.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Neurofibromatoses*/genetics
Neurofibromatosis 1*/complications
Neurofibromatosis 1*/genetics
Genes, Neurofibromatosis 1 ; Humans ; Mosaicism ; Phenotype
SCR Disease Name:
Neurofibromatosis type 5
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Safety, pharmacokinetics and efficacy of selumetinib in Chinese adult and paediatric patients with neurofibromatosis type 1 and inoperable plexiform neurofibromas: The primary analysis of a phase 1 open-label study.
Autorzy:
Wang Z; Shanghai Ninth People's Hospital Affiliated to Shanghai JiaoTong University School of Medicine, Shanghai, China.
Zhang X; Xinhua Hospital Affiliated to Shanghai JiaoTong University School of Medicine, Shanghai, China.
Li C; AstraZeneca Global R&D (China) Co. Ltd., Shanghai, China.
Liu Y; AstraZeneca Global R&D (China) Co. Ltd., Shanghai, China.
Ge X; AstraZeneca Global R&D (China) Co. Ltd., Shanghai, China.
Zhao J; AstraZeneca Global R&D (China) Co. Ltd., Shanghai, China.
Yuan X; Xinhua Hospital Affiliated to Shanghai JiaoTong University School of Medicine, Shanghai, China.
Li Q; Shanghai Ninth People's Hospital Affiliated to Shanghai JiaoTong University School of Medicine, Shanghai, China.
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Źródło:
Clinical and translational medicine [Clin Transl Med] 2024 Mar; Vol. 14 (3), pp. e1589.
Typ publikacji:
Clinical Trial, Phase I; Letter
MeSH Terms:
Neurofibroma, Plexiform*/drug therapy
Neurofibromatosis 1*/drug therapy
Adult ; Humans ; Child ; Benzimidazoles ; China
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Estrogen-induced glial IL-1β mediates extrinsic retinal ganglion cell vulnerability in murine Nf1 optic glioma.
Autorzy:
Tang Y; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, 63110, USA.; Department of Ophthalmology, Washington University School of Medicine, St. Louis, Missouri, 63110, USA.
Chatterjee J; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, 63110, USA.
Wagoner N; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, 63110, USA.
Bozeman S; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, 63110, USA.
Gutmann DH; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, 63110, USA.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Mar; Vol. 11 (3), pp. 812-818. Date of Electronic Publication: 2024 Jan 16.
Typ publikacji:
Journal Article
MeSH Terms:
Optic Nerve Glioma*/metabolism
Neurofibromatosis 1*
Humans ; Child ; Male ; Female ; Mice ; Animals ; Retinal Ganglion Cells ; Interleukin-1beta/metabolism ; Vision Disorders ; Estrogens/pharmacology ; Estrogens/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Brain injury drives optic glioma formation through neuron-glia signaling.
Autorzy:
Chatterjee J; Department of Neurology, Washington University School of Medicine, 660 S. Euclid Avenue, Box 8111, St. Louis, MO, 63110, USA.
Koleske JP; Department of Neurology, Washington University School of Medicine, 660 S. Euclid Avenue, Box 8111, St. Louis, MO, 63110, USA.
Chao A; Department of Neurology, Washington University School of Medicine, 660 S. Euclid Avenue, Box 8111, St. Louis, MO, 63110, USA.
Sauerbeck AD; Department of Neurology, Washington University School of Medicine, 660 S. Euclid Avenue, Box 8111, St. Louis, MO, 63110, USA.
Chen JK; Department of Neurology, Washington University School of Medicine, 660 S. Euclid Avenue, Box 8111, St. Louis, MO, 63110, USA.
Qi X; Department of Neurology, Washington University School of Medicine, 660 S. Euclid Avenue, Box 8111, St. Louis, MO, 63110, USA.
Ouyang M; Department of Neurology, Washington University School of Medicine, 660 S. Euclid Avenue, Box 8111, St. Louis, MO, 63110, USA.
Boggs LG; Department of Neurology, Washington University School of Medicine, 660 S. Euclid Avenue, Box 8111, St. Louis, MO, 63110, USA.
Idate R; Department of Neurology, Washington University School of Medicine, 660 S. Euclid Avenue, Box 8111, St. Louis, MO, 63110, USA.
Marco Y Marquez LI; Department of Neurology, Washington University School of Medicine, 660 S. Euclid Avenue, Box 8111, St. Louis, MO, 63110, USA.
Kummer TT; Department of Neurology, Washington University School of Medicine, 660 S. Euclid Avenue, Box 8111, St. Louis, MO, 63110, USA.
Gutmann DH; Department of Neurology, Washington University School of Medicine, 660 S. Euclid Avenue, Box 8111, St. Louis, MO, 63110, USA. .
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2024 Feb 02; Vol. 12 (1), pp. 21. Date of Electronic Publication: 2024 Feb 02.
Typ publikacji:
Journal Article
MeSH Terms:
Optic Nerve Glioma*/metabolism
Optic Nerve Glioma*/pathology
Neurofibromatosis 1*/pathology
Brain Injuries*/metabolism
Mice ; Animals ; Microglia/metabolism ; Neurons/metabolism ; Carcinogenesis/metabolism ; Tumor Microenvironment
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Giant gluteal and vesical plexiform neurofibromas in a patient with neurofibromatosis type 1: a case report.
Autorzy:
Sassi I; Surgical Oncology Department, Salah Azaiez Institute of Oncology, Faculty of Medicine of Tunis, Tunis El Manar University, Tunis, Tunisia. .
Bouida MA; Surgical Oncology Department, Salah Azaiez Institute of Oncology, Faculty of Medicine of Tunis, Tunis El Manar University, Tunis, Tunisia.
Hasnaoui A; Department of General Surgery, Menzel Bourguiba Hospital, Faculty of Medicine of Tunis, Tunis El Manar University, 7050, Menzel Bourguiba, Bizerta, Tunisia.
Zemni I; Surgical Oncology Department, Salah Azaiez Institute of Oncology, Faculty of Medicine of Tunis, Tunis El Manar University, Tunis, Tunisia.
Ben Dhieb T; Surgical Oncology Department, Salah Azaiez Institute of Oncology, Faculty of Medicine of Tunis, Tunis El Manar University, Tunis, Tunisia.
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Źródło:
Journal of medical case reports [J Med Case Rep] 2024 Jan 13; Vol. 18 (1), pp. 15. Date of Electronic Publication: 2024 Jan 13.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Neurofibroma, Plexiform*/complications
Neurofibroma, Plexiform*/diagnostic imaging
Neurofibroma, Plexiform*/genetics
Neurofibromatosis 1*/complications
Neurofibromatosis 1*/pathology
Neurofibroma*/pathology
Skin Neoplasms*/pathology
Humans ; Female ; Young Adult ; Adult ; Urinary Bladder/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Resiliency outcomes after participation in an asynchronous web-based platform for adults with neurofibromatosis: The NF-Web study.
Autorzy:
Wang KE; Center for Health Outcomes and Interdisciplinary Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America.
Vranceanu AM; Center for Health Outcomes and Interdisciplinary Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America.; Harvard Medical School, Boston, Massachusetts, United States of America.
Lester EG; Center for Health Outcomes and Interdisciplinary Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America.; Harvard Medical School, Boston, Massachusetts, United States of America.
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Źródło:
PloS one [PLoS One] 2023 Dec 21; Vol. 18 (12), pp. e0295546. Date of Electronic Publication: 2023 Dec 21 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
Resilience, Psychological*
Neurofibromatoses*/therapy
Neurilemmoma*
Neurofibromatosis 2*
Neurofibromatosis 1*
Male ; Adult ; Female ; Humans ; Middle Aged ; Pilot Projects ; Internet
Czasopismo naukowe
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Tytuł:
Neurofibromatosis Type 1 Vasculopathy Presenting as Branch Retinal Vein Occlusion: Case Report and Review of the Literature
Autorzy:
Özdemir Zeydanlı E; Private Retina Clinic, Ankara, Türkiye
Özdek Ş; Gazi University Faculty of Medicine, Department of Ophthalmology, Ankara, Türkiye
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Źródło:
Turkish journal of ophthalmology [Turk J Ophthalmol] 2023 Dec 21; Vol. 53 (6), pp. 390-394. Date of Electronic Publication: 2023 Nov 27.
Typ publikacji:
Review; Case Reports; Journal Article
MeSH Terms:
Retinal Vein Occlusion*/etiology
Retinal Vein Occlusion*/complications
Neurofibromatosis 1*/complications
Neurofibromatosis 1*/diagnosis
Retinal Diseases*/complications
Female ; Humans ; Child, Preschool ; Retina ; Fluorescein Angiography
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A Novel Heterozygous NF1 Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report
Autorzy:
Qin S; The Third Affiliated Hospital of Chongqing Medical University, Department of Endocrinology, Chongqing, China
Zhang Y; The Third Affiliated Hospital of Chongqing Medical University, Department of Endocrinology, Chongqing, China
Yu F; The Third Affiliated Hospital of Chongqing Medical University, Department of Endocrinology, Chongqing, China
Ni Y; The Third Affiliated Hospital of Chongqing Medical University, Department of Endocrinology, Chongqing, China
Zhong J; The Third Affiliated Hospital of Chongqing Medical University, Department of Endocrinology, Chongqing, China
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Źródło:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2023 Nov 22; Vol. 15 (4), pp. 438-443. Date of Electronic Publication: 2022 May 31.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Neurofibromatosis 1*/complications
Neurofibromatosis 1*/genetics
Neurofibromatosis 1*/diagnosis
Neurofibromatoses*/diagnosis
Dwarfism, Pituitary*
Male ; Humans ; Child ; Growth Hormone
SCR Disease Name:
Neurofibromatosis-Noonan syndrome
Czasopismo naukowe
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Tytuł:
Survival outcomes of malignant peripheral nerve sheath tumors (MPNSTs) with and without neurofibromatosis type I (NF1): a meta-analysis.
Autorzy:
Lim Z; Department of Hand & Reconstructive Microsurgery, University Orthopaedic, Hand & Reconstructive Microsurgical Cluster, National University Health System, 1E Kent Ridge Road, NUHS Tower Block, Level 11, Singapore, 119228, Singapore. .
Gu TY; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, 12 Science Drive, #10-01, Singapore, 117549, Singapore.
Tai BC; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, 12 Science Drive, #10-01, Singapore, 117549, Singapore. .; Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. .
Puhaindran ME; Department of Hand & Reconstructive Microsurgery, University Orthopaedic, Hand & Reconstructive Microsurgical Cluster, National University Health System, 1E Kent Ridge Road, NUHS Tower Block, Level 11, Singapore, 119228, Singapore.
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Źródło:
World journal of surgical oncology [World J Surg Oncol] 2024 Jan 09; Vol. 22 (1), pp. 14. Date of Electronic Publication: 2024 Jan 09.
Typ publikacji:
Meta-Analysis; Journal Article
MeSH Terms:
Neurofibrosarcoma*
Neurofibromatosis 1*/complications
Humans ; Retrospective Studies
Czasopismo naukowe
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Tytuł:
Hypertension in NF1: A closer look at the primacy of essential hypertension versus secondary causes.
Autorzy:
Loponen N; Department of Cell Biology and Anatomy, Institute of Biomedicine, University of Turku, Turku, Finland.
Ylä-Outinen H; Department of Cell Biology and Anatomy, Institute of Biomedicine, University of Turku, Turku, Finland.; Department of Pulmonary Diseases, Turku University Hospital, Turku, Finland.
Kallionpää RA; Department of Cell Biology and Anatomy, Institute of Biomedicine, University of Turku, Turku, Finland.
Valtanen M; Department of Cell Biology and Anatomy, Institute of Biomedicine, University of Turku, Turku, Finland.; Department of Mathematics and Statistics, University of Turku, Turku, Finland.; Department of Public Health and Welfare, Population Health Unit, Finnish Institute for Health and Welfare, Helsinki, Finland.
Auranen K; Department of Mathematics and Statistics, University of Turku, Turku, Finland.; Department of Clinical Medicine, University of Turku, Turku, Finland.
Järveläinen H; Department of Cell Biology and Anatomy, Institute of Biomedicine, University of Turku, Turku, Finland.; Department of Internal Medicine, Satakunta Central Hospital, Pori, Finland.
Peltonen S; Department of Dermatology, University of Turku and Turku University Hospital, Turku, Finland.; Department of Dermatology and Venereology, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Department of Dermatology and Venereology, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Dermatology and Allergology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Peltonen J; Department of Cell Biology and Anatomy, Institute of Biomedicine, University of Turku, Turku, Finland.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2346. Date of Electronic Publication: 2023 Dec 22.
Typ publikacji:
Journal Article
MeSH Terms:
Neurofibromatosis 1*/diagnosis
Hypertension*/epidemiology
Male ; Humans ; Female ; Essential Hypertension/epidemiology ; Essential Hypertension/complications ; Risk Factors ; Finland/epidemiology
Czasopismo naukowe
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Wyświetlanie 1-20 z 18967

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