المؤلفون: Niizeki H; Division of Dermatology, National Center for Child Health and Development, Tokyo, Japan. Electronic address: niizeki-h@ncchd.go.jp., Tanaka R; Division of Dermatology, National Center for Child Health and Development, Tokyo, Japan., Nomura T; Department of Dermatology, Graduate School of Medicine and Faculty of Medicine, Kyoto University, Kyoto, Japan., Seki A; Division of Orthopedics, National Center for Child Health and Development, Tokyo, Japan., Miyasaka M; Division of Radiology, National Center for Child Health and Development, Tokyo, Japan., Matsumoto Y; Division of Dermatology, National Center for Child Health and Development, Tokyo, Japan., Ishibashi M; Department of Dermatology, Graduate School of Medicine and Faculty of Medicine, Kyoto University, Kyoto, Japan., Narumi S; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan., Nakabayashi K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan., Yoshida K; Division of Dermatology, National Center for Child Health and Development, Tokyo, Japan. Electronic address: yoshida-kz@ncchd.go.jp.

المصدر: Journal of dermatological science [J Dermatol Sci] 2024 May; Vol. 114 (2), pp. 86-88. Date of Electronic Publication: 2024 Mar 26.

نوع المنشور: Letter

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9011485 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-569X (Electronic) Linking ISSN: 09231811 NLM ISO Abbreviation: J Dermatol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Osteoarthropathy, Primary Hypertrophic*/genetics , Osteoarthropathy, Primary Hypertrophic*/diagnosis , Organic Anion Transporters*/genetics, Humans ; Male ; Japan ; Adult ; Middle Aged ; Female ; Asian People/genetics ; East Asian People

المؤلفون: Dai Y; Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1, Shuaifuyuan, Beijing, 100730, China., He M; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Xu H, Tan B; Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1, Shuaifuyuan, Beijing, 100730, China., Zhou W; Department of Pathology, Peking Union Medical College Hospital, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China., Liu W; Department of Radiology, Peking Union Medical College Hospital, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, No. 1, Shuaifuyuan, Beijing, 100730, China., Wang Q; Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1, Shuaifuyuan, Beijing, 100730, China., Huang J; Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1, Shuaifuyuan, Beijing, 100730, China., Shang Q; Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1, Shuaifuyuan, Beijing, 100730, China., Liu Y; The State Key Laboratory for Complex, Severe, and Rare Diseases, The State Key Sci-tech Infrastructure for Translational Medicine, Peking Union Medical College Hospital, Beijing, 100730, China. ypliu_pumc@163.com., Li Y; Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1, Shuaifuyuan, Beijing, 100730, China. liyue@pumch.ac.cn.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jun 11; Vol. 19 (1), pp. 229. Date of Electronic Publication: 2024 Jun 11.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Osteoarthropathy, Primary Hypertrophic*/genetics , Organic Anion Transporters*/genetics, Humans ; Male ; Gastrointestinal Diseases/genetics ; Female ; Exome Sequencing ; Mutation/genetics ; Asian People/genetics ; East Asian People

المؤلفون: Kimball TN; Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico., Rivero-García P; Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico., Barrera-Godínez A; Department of Dermatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico., Domínguez-Cherit J; Department of Dermatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63446. Date of Electronic Publication: 2023 Nov 01.

نوع المنشور: Review; Case Reports

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Osteoarthropathy, Primary Hypertrophic*/diagnosis , Osteoarthropathy, Primary Hypertrophic*/genetics , Organic Anion Transporters*/genetics, Humans ; Genotype ; Phenotype ; Mutation, Missense

المؤلفون: Lucas Rocha M; Hospital de Faro, Faro, Portugal margaridarocha@campus.ul.pt., Silvestre-Teixeira V; Hospital de Faro, Faro, Portugal margaridarocha@campus.ul.pt.

المصدر: The New England journal of medicine [N Engl J Med] 2024 Apr 04; Vol. 390 (13), pp. 1218.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE

مواضيع طبية MeSH: Osteoarthropathy, Secondary Hypertrophic*/etiology , Osteoarthropathy, Secondary Hypertrophic*/complications , Osteoarthropathy, Primary Hypertrophic*/diagnosis, Humans ; Diagnosis, Differential

المؤلفون: Deser SB; Department of Cardiovascular Surgery, Institute of Cardiology, Istanbul University-Cerrahpasa, İstanbul, Turkey.

المصدر: Portuguese journal of cardiac thoracic and vascular surgery [Port J Card Thorac Vasc Surg] 2024 Feb 09; Vol. 30 (4), pp. 83. Date of Electronic Publication: 2024 Feb 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Sociedade Portuguesa de Cirurgia Cardio-Torácica e Vascular Country of Publication: Portugal NLM ID: 9918249514506676 Publication Model: Electronic Cited Medium: Print ISSN: 2184-9927 (Print) Linking ISSN: 21849927 NLM ISO Abbreviation: Port J Card Thorac Vasc Surg Subsets: MEDLINE

مواضيع طبية MeSH: Osteoarthropathy, Primary Hypertrophic*/diagnosis, Humans ; Veins

المؤلفون: Long B; Faculty of Life Science and Technology, Kunming University of Science and Technology, Kunming, China.; Department of Gastroenterology, The First People's Hospital of Yunnan Province, Kunming, China., Jiang C; Emergency Surgery, The First People's Hospital of Yunnan Province, Kunming, China., Zheng Q; Department of Pathology, The First People's Hospital of Yunnan Province, Kunming, China., Wan P; Department of Gastroenterology, The First People's Hospital of Yunnan Province, Kunming, China.

المصدر: United European gastroenterology journal [United European Gastroenterol J] 2024 Feb; Vol. 12 (1), pp. 152-154. Date of Electronic Publication: 2023 Nov 22.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 101606807 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2050-6414 (Electronic) Linking ISSN: 20506406 NLM ISO Abbreviation: United European Gastroenterol J Subsets: MEDLINE

مواضيع طبية MeSH: Osteoarthropathy, Primary Hypertrophic* , Stomach Neoplasms*/complications , Stomach Neoplasms*/diagnosis , Stomach Neoplasms*/surgery , Adenoma*/complications , Adenoma*/diagnosis , Adenoma*/surgery , Adenomatous Polyps*, Humans ; Gastric Mucosa

SCR Disease Name: Polyposis, Gastric

المؤلفون: Alban JJ; Fundación Valle del Lili, Center of Clinical Research, Cali, 760026, Colombia., Arango-Ramirez A; Fundación Valle del Lili, Center of Clinical Research, Cali, 760026, Colombia., Olave-Rodriguez JA; Faculty of Health Sciences, Icesi University, Cali, 760031, Colombia., Nastasi-Catanese JA; Faculty of Health Sciences, Icesi University, Cali, 760031, Colombia.; Fundación Valle del Lili, Department of Human Genetics, Cali, 760026, Colombia., Rodriguez LX; Faculty of Health Sciences, Icesi University, Cali, 760031, Colombia; lisa.rodriguez@fvl.org.co.; Fundación Valle del Lili, Department of Human Genetics, Cali, 760026, Colombia.

المصدر: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2024 Jan 10; Vol. 9 (4). Date of Electronic Publication: 2024 Jan 10 (Print Publication: 2023).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: MEDLINE

مواضيع طبية MeSH: Osteoarthropathy, Primary Hypertrophic*/diagnosis , Osteoarthropathy, Primary Hypertrophic*/genetics, Male ; Humans ; Hydroxyprostaglandin Dehydrogenases/genetics ; Homozygote ; Phenotype ; Exome Sequencing

المؤلفون: Yamamoto H; From the Department of Endocrinology, Metabolism, Nephrology, and Rheumatology, Kochi Medical School Hospital, Kochi University, Nankoku, Kochi, Japan., Taniguchi Y

المصدر: Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases [J Clin Rheumatol] 2023 Sep 01; Vol. 29 (6), pp. e121. Date of Electronic Publication: 2023 Jun 28.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9518034 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-7355 (Electronic) Linking ISSN: 10761608 NLM ISO Abbreviation: J Clin Rheumatol Subsets: MEDLINE

مواضيع طبية MeSH: Osteoarthropathy, Secondary Hypertrophic*/diagnosis , Osteoarthropathy, Secondary Hypertrophic*/etiology , Pancoast Syndrome*/complications , Osteoarthropathy, Primary Hypertrophic*/complications , Osteoarthropathy, Primary Hypertrophic*/diagnosis, Humans

المؤلفون: Lu Q; Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China., Xu Y; Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China., Zhang Z; Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China., Li S; Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China., Zhang Z; Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.

المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2023 Aug 29; Vol. 14, pp. 1235040. Date of Electronic Publication: 2023 Aug 29 (Print Publication: 2023).

نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

مواضيع طبية MeSH: Osteoarthropathy, Primary Hypertrophic*/diagnosis , Osteoarthropathy, Primary Hypertrophic*/genetics , Osteoarthropathy, Primary Hypertrophic*/therapy , Drug-Related Side Effects and Adverse Reactions* , Organic Anion Transporters*, Humans ; Dinoprostone ; Cyclooxygenase 2 ; Diagnosis, Differential

المؤلفون: Pasumarthi D; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad 500 082, Telangana, India., Ranganath P; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad 500 082, Telangana, India., Mandal K; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, Uttar Pradesh, India., Lakshmi ND; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, Uttar Pradesh, India., Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad 500 082, Telangana, India., Aggarwal S; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad 500 082, Telangana, India.

المصدر: The Indian journal of medical research [Indian J Med Res] 2023 Sep; Vol. 158 (3), pp. 319-323.

نوع المنشور: Letter

بيانات الدورية: Publisher: Medknow Country of Publication: India NLM ID: 0374701 Publication Model: Print Cited Medium: Internet ISSN: 0971-5916 (Print) Linking ISSN: 09715916 NLM ISO Abbreviation: Indian J Med Res Subsets: MEDLINE

مواضيع طبية MeSH: Organic Anion Transporters*/genetics , Osteoarthropathy, Primary Hypertrophic*/genetics , South Asian People*/genetics, Humans ; Asian People/genetics ; Mutation/genetics