المؤلفون: Tran VK, Sasongko TH, Hong DD, Hoan NT, Dung VC, Lee MJ, Takeshima Y, Matsuo M, Nishio H

المصدر: Pediatrics International; Jun2008, Vol. 50 Issue 3, p346-351, 6p

المؤلفون: Chung NT; Department of Chemistry, Institute of Education, Vinh University 182 Le Duan Street Nghe An 430000 Vietnam Xuanduc80@gmail.com., Dung VC; Centre for Education Accreditation, Vinh University 182 Le Duan Street Nghe An 430000 Vietnam., Duc DX; Department of Chemistry, Institute of Education, Vinh University 182 Le Duan Street Nghe An 430000 Vietnam Xuanduc80@gmail.com.

المصدر: RSC advances [RSC Adv] 2023 Nov 07; Vol. 13 (46), pp. 32734-32771. Date of Electronic Publication: 2023 Nov 07 (Print Publication: 2023).

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Royal Society of Chemistry Country of Publication: England NLM ID: 101581657 Publication Model: eCollection Cited Medium: Internet ISSN: 2046-2069 (Electronic) Linking ISSN: 20462069 NLM ISO Abbreviation: RSC Adv Subsets: PubMed not MEDLINE

المؤلفون: Duong NT; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam., Dinh TH; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam., Möhl BS; Institute of Virology, School of Medicine, Technical University of Munich/Helmholtz Zentrum München, Munich, Germany., Hintze S; Friedrich-Baur-Institute, Department of Neurology, LMU Klinikum, Ludwig-Maximilians-University Munich, Munich, Germany., Quynh DH; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam., Ha DTT; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam., Ngoc ND; Vietnam National Children's Hospital, Hanoi, Vietnam., Dung VC; Vietnam National Children's Hospital, Hanoi, Vietnam., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan.; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan., Hai NV; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan., Meinke P; Friedrich-Baur-Institute, Department of Neurology, LMU Klinikum, Ludwig-Maximilians-University Munich, Munich, Germany.

المصدر: Aging [Aging (Albany NY)] 2022 Jun 22; Vol. 14 (13), pp. 5299-5310. Date of Electronic Publication: 2022 Jun 22.

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

بيانات الدورية: Publisher: Impact Journals, LLC Country of Publication: United States NLM ID: 101508617 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1945-4589 (Electronic) Linking ISSN: 19454589 NLM ISO Abbreviation: Aging (Albany NY) Subsets: MEDLINE

مواضيع طبية MeSH: Cockayne Syndrome*/genetics, Asian People ; DNA Repair/genetics ; DNA Repair Enzymes/genetics ; Humans ; Hydrogen Peroxide ; Phenotype ; Siblings ; Transcription Factors/genetics

المؤلفون: Ngoc CTB; The Center of Endocrinology, Metabolism, Genetics, and Molecular Therapy, Vietnam National Children's Hospital, Hanoi, Vietnam.; Pediatric Department, Hanoi Medical University, Hanoi, Vietnam., Dung VC; The Center of Endocrinology, Metabolism, Genetics, and Molecular Therapy, Vietnam National Children's Hospital, Hanoi, Vietnam., De Franco E; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, United Kingdom., Lan NN; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam., Thao BP; The Center of Endocrinology, Metabolism, Genetics, and Molecular Therapy, Vietnam National Children's Hospital, Hanoi, Vietnam., Khanh NN; The Center of Endocrinology, Metabolism, Genetics, and Molecular Therapy, Vietnam National Children's Hospital, Hanoi, Vietnam., Flanagan SE; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, United Kingdom., Craig ME; Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead/Discipline of Child and Adolescent Health, University of Sydney, Sydney, NSW, Australia.; School of Clinical Medicine, University of New South Wales Medicine and Health, Discipline of Paediatrics and Child Health, Sydney, NSW, Australia., Hoang NH; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam., Dien TM; The Center of Endocrinology, Metabolism, Genetics, and Molecular Therapy, Vietnam National Children's Hospital, Hanoi, Vietnam.

المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2022 Apr 19; Vol. 13, pp. 866573. Date of Electronic Publication: 2022 Apr 19 (Print Publication: 2022).

نوع المنشور: Journal Article; 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: Diabetes Mellitus*/etiology , Diabetes Mellitus*/genetics , Diabetic Ketoacidosis* , Infant, Newborn, Diseases*/epidemiology , Infant, Newborn, Diseases*/genetics, Asian People ; Child ; Glycated Hemoglobin ; Humans ; Infant ; Infant, Newborn ; Insulin/genetics ; Mutation ; Vietnam/epidemiology

SCR Disease Name: Diabetes Mellitus, Permanent Neonatal

المؤلفون: Ngoc CTB; Department of Endocrinology, Metabolism and Genetics, Vietnam National Children's Hospital, Hanoi, Vietnam., Dien TM; Department of Endocrinology, Metabolism and Genetics, Vietnam National Children's Hospital, Hanoi, Vietnam., De Franco E; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, United Kingdom., Ellard S; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, United Kingdom.; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom., Houghton JAL; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom., Lan NN; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam., Thao BP; Department of Endocrinology, Metabolism and Genetics, Vietnam National Children's Hospital, Hanoi, Vietnam., Khanh NN; Department of Endocrinology, Metabolism and Genetics, Vietnam National Children's Hospital, Hanoi, Vietnam., Flanagan SE; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, United Kingdom., Craig ME; Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead/Discipline of Child and Adolescent Health, University of Sydney, Sydney, NSW, Australia.; School of Women's and Children's Health, University of New South Wales Medicine, Sydney, NSW, Australia., Dung VC; Department of Endocrinology, Metabolism and Genetics, Vietnam National Children's Hospital, Hanoi, Vietnam.

المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2021 Sep 09; Vol. 12, pp. 727083. Date of Electronic Publication: 2021 Sep 09 (Print Publication: 2021).

نوع المنشور: Journal Article; 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: Diabetes Mellitus*/drug therapy , Diabetes Mellitus*/genetics , Diabetes Mellitus*/pathology, Potassium Channels, Inwardly Rectifying/*genetics , Sulfonylurea Receptors/*genetics, Female ; Genetic Testing ; Hospitals, Pediatric ; Humans ; Hypoglycemic Agents/therapeutic use ; Infant ; Infant, Newborn ; Infant, Newborn, Diseases/drug therapy ; Infant, Newborn, Diseases/genetics ; Infant, Newborn, Diseases/pathology ; KATP Channels/genetics ; Male ; Molecular Diagnostic Techniques ; Mutation ; Phenotype ; Prognosis ; Sulfonylurea Compounds/therapeutic use ; Treatment Outcome ; Vietnam

SCR Disease Name: Diabetes Mellitus, Permanent Neonatal

المؤلفون: Johnston JJ; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., van der Smagt JJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA, Texas., Pagnamenta AT; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Alswaid A; King Abdulaziz Medical City, Riyadh, Saudi Arabia., Baker EH; Department of Radiology and Imaging Services; Clinical Center, National Institutes of Health, Bethesda, Maryland, USA., Blair E; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Borck G; Institute of Human Genetics, University of Ulm, Ulm, Germany., Brinkmann J; Institute of Human Genetics, University Hospital, Magdeburg, Germany., Craigen W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA, Texas., Dung VC; Rare Disease and Newborn Screening Service, Department of Medical Genetics and Metabolism, The National Children's Hospital, Hanoi, Vietnam., Emrick L; Division of Neurology and Developmental Neuroscience and Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Everman DB; Greenwood Genetic Center, Greenwood, South Carolina, USA., van Gassen KL; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Gulsuner S; Division of Medical Genetics, University of Washington, Seattle, Washington, USA., Harr MH; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Jain M; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Leppig KA; Genetic Services, Kaiser Permanente of Washington, Seattle, Washington, USA., McDonald-McGinn DM; Division of Human Genetics and Department of Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Can NTB; Rare Disease and Newborn Screening Service, Department of Medical Genetics and Metabolism, The National Children's Hospital, Hanoi, Vietnam., Peleg A; Institute of Human Genetics, Carmel Medical Center, Haifa, Israel., Roeder ER; Department of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, Texas, USA., Rogers RC; Greenwood Genetic Center, Greenwood, South Carolina, USA., Sagi-Dain L; Institute of Human Genetics, Carmel Medical Center, Haifa, Israel., Sapp JC; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Schäffer AA; Computational Biology Branch, National Center for Biotechnology Information, NIH, Bethesda, Maryland, USA., Schanze D; Institute of Human Genetics, University Hospital, Magdeburg, Germany., Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Taylor JC; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Verbeek NE; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Walkiewicz MA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA, Texas., Zackai EH; Division of Human Genetics and Department of Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Zenker M; Institute of Human Genetics, University Hospital, Magdeburg, Germany., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA, Texas., Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA. lesb@mail.nih.gov.

مؤلفون مشاركون: Members of the Undiagnosed Diseases Network

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Oct; Vol. 20 (10), pp. 1175-1185. Date of Electronic Publication: 2018 Feb 22.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease*, Noonan Syndrome/*genetics , Transcription Factors/*genetics, Adolescent ; Child ; Child, Preschool ; Exome/genetics ; Female ; Genetic Linkage ; Genotype ; Heterozygote ; Humans ; Infant ; Male ; Mutation ; Noonan Syndrome/pathology ; Pedigree ; Protein Isoforms/genetics ; RNA Splicing/genetics ; Siblings

المؤلفون: Shibata N; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1, Enya-cho, Izumo, Shimane 693-8501, Japan., Hasegawa Y; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1, Enya-cho, Izumo, Shimane 693-8501, Japan., Yamada K; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1, Enya-cho, Izumo, Shimane 693-8501, Japan., Kobayashi H; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1, Enya-cho, Izumo, Shimane 693-8501, Japan., Purevsuren J; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1, Enya-cho, Izumo, Shimane 693-8501, Japan.; Medical Genetics Laboratory, National Center for Maternal and Child Health, Khuvisgalchdyn Street, Bayangol District, Ulaanbaatar 16060, Mongolia., Yang Y; Department of Pediatrics, Peking University First Hospital, No.1, Xi-an-men Road, Xicheng District, Beijing 100034, China., Dung VC; Center for Newborn Screening and Rare Disease, Department of Medical Genetics Metabolism and Endocrinology, Vietnam National Children's Hospital, No.18/879, La Thanh Road, Dong Da District, Hanoi, Viet Nam.; Department of Pediatrics, Hanoi Medical University. Hanoi, Viet Nam., Khanh NN; Center for Newborn Screening and Rare Disease, Department of Medical Genetics Metabolism and Endocrinology, Vietnam National Children's Hospital, No.18/879, La Thanh Road, Dong Da District, Hanoi, Viet Nam.; Department of Pediatrics, Hanoi Medical University. Hanoi, Viet Nam., Verma IC; Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110060, India., Bijarnia-Mahay S; Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110060, India., Lee DH; Department of Pediatrics, Soon Chun Hyang University Hospital, 59, Daesagwan-ro, Yongsan-gu, Seoul 04401, Republic of Korea., Niu DM; Institute of Clinical Medicine, National Yang-Ming University, Medical Science & Technology Building 8F, No.201, Sec.2, Shih-Pai Road, Taipei 112, Taiwan, ROC., Hoffmann GF; Department of Pediatrics, University of Heidelberg, University Children Hospital, Im Neuenheimer Field 669, Heidelberg D-69120, Germany., Shigematsu Y; Department of Pediatrics, School of Medical Sciences, University of Fukui, 23 Shimogogetsu, Matsuoka, Eiheiji-cho, Fukui 910-1193, Japan., Fukao T; Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1, Yanagido, Gifu 501-1194, Japan., Fukuda S; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1, Enya-cho, Izumo, Shimane 693-8501, Japan., Taketani T; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1, Enya-cho, Izumo, Shimane 693-8501, Japan., Yamaguchi S; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1, Enya-cho, Izumo, Shimane 693-8501, Japan.

المصدر: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2018 May 21; Vol. 16, pp. 5-10. Date of Electronic Publication: 2018 May 21 (Print Publication: 2018).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE

المؤلفون: Binh HD; Hue University of Medicine and Pharmacy, Hue University, 06 ngo Quyen, Hue, 530000, Vietnam. binhthuybi@yahoo.com.; Clinic of Traumatology and Orthopaedics, University of Tartu, Puusepa 8, 51014, Tartu, Estonia. binhthuybi@yahoo.com.; Clinic of Traumatology and Orthopaedics, Tartu University Hospital, Puusepa 8, 51014, Tartu, Estonia. binhthuybi@yahoo.com., Maasalu K; Clinic of Traumatology and Orthopaedics, University of Tartu, Puusepa 8, 51014, Tartu, Estonia.; Clinic of Traumatology and Orthopaedics, Tartu University Hospital, Puusepa 8, 51014, Tartu, Estonia., Dung VC; National Hospital of Pediatrics, 18/879 La Thanh, Dong Da, 100000, Hanoi, Vietnam., Ngoc CT; National Hospital of Pediatrics, 18/879 La Thanh, Dong Da, 100000, Hanoi, Vietnam., Hung TT; OI Booming Diamond Center, 303/38 Ha Huy Giap, 12th District, 700000, Ho Chi Minh City, Vietnam., Nam TV; Traditional Medicine Institute, 273 Nguyen Van Troi, Phu Nhuan, 700000, Ho Chi Minh City, Vietnam., Nhan LN; Hue University of Medicine and Pharmacy, Hue University, 06 ngo Quyen, Hue, 530000, Vietnam., Prans E; Pathophysiology Department, University of Tartu, Ravila 19, Tartu, 50411, Estonia., Reimann E; Pathophysiology Department, University of Tartu, Ravila 19, Tartu, 50411, Estonia., Zhytnik L; Clinic of Traumatology and Orthopaedics, University of Tartu, Puusepa 8, 51014, Tartu, Estonia., Kõks S; Pathophysiology Department, University of Tartu, Ravila 19, Tartu, 50411, Estonia., Märtson A; Clinic of Traumatology and Orthopaedics, University of Tartu, Puusepa 8, 51014, Tartu, Estonia.; Clinic of Traumatology and Orthopaedics, Tartu University Hospital, Puusepa 8, 51014, Tartu, Estonia.

المصدر: International orthopaedics [Int Orthop] 2017 Jan; Vol. 41 (1), pp. 21-29. Date of Electronic Publication: 2016 Nov 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7705431 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-5195 (Electronic) Linking ISSN: 03412695 NLM ISO Abbreviation: Int Orthop Subsets: MEDLINE

مواضيع طبية MeSH: Osteogenesis Imperfecta/*diagnosis, Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Fractures, Bone/etiology ; Humans ; Infant ; Male ; Middle Aged ; Osteogenesis Imperfecta/complications ; Osteogenesis Imperfecta/epidemiology ; Prevalence ; Quality of Life ; Vietnam ; Young Adult

المؤلفون: Kon M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan Department of Renal and Genitourinary Surgery, Hokkaido University Graduate School of Medicine, Sapporo 060-8638, Japan., Suzuki E; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan., Dung VC; Department of Endocrinology, The Vietnam National Hospital of Pediatrics, Hanoi, Vietnam., Hasegawa Y; Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo 183-8561, Japan., Mitsui T; Department of Renal and Genitourinary Surgery, Hokkaido University Graduate School of Medicine, Sapporo 060-8638, Japan., Muroya K; Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Yokohama 232-0066, Japan., Ueoka K; Division of Urology, National Center for Child Health and Development, Tokyo 157-8535, Japan., Igarashi N; Department of Pediatrics, Toyama Prefectural Central Hospital, Toyama 930-0975, Japan., Nagasaki K; Department of Pediatrics, Niigata University School of Medicine, Niigata 951-8510, Japan., Oto Y; Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Koshigaya 343-0845, Japan., Hamajima T; Division of Endocrinology and Metabolism, Aichi Children's Health and Medical Center, Obu 474-8710, Japan., Yoshino K; Department of Urology, Aichi Children's Health and Medical Center, Obu 474-8710, Japan., Igarashi M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan., Kato-Fukui Y; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan., Nakabayashi K; Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan., Hayashi K; Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan., Hata K; Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan., Matsubara Y; National Research Institute for Child Health and Development, Tokyo 157-8535, Japan., Moriya K; Department of Renal and Genitourinary Surgery, Hokkaido University Graduate School of Medicine, Sapporo 060-8638, Japan., Ogata T; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan., Nonomura K; Department of Renal and Genitourinary Surgery, Hokkaido University Graduate School of Medicine, Sapporo 060-8638, Japan., Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan fukami-m@ncchd.go.jp.

المصدر: Human reproduction (Oxford, England) [Hum Reprod] 2015 Mar; Vol. 30 (3), pp. 499-506. Date of Electronic Publication: 2015 Jan 20.

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

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 8701199 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2350 (Electronic) Linking ISSN: 02681161 NLM ISO Abbreviation: Hum Reprod Subsets: MEDLINE

مواضيع طبية MeSH: Hypospadias/*genetics, DNA Copy Number Variations ; DNA Mutational Analysis ; Genetic Predisposition to Disease ; Humans ; Male ; Polymorphism, Genetic

المؤلفون: Tomatsu S; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Medical Genetics Service/HCPA and Department of Genetics/UFRGS, Porto Alegre, Brazil. Electronic address: stomatsu@nemours.org., Alméciga-Díaz CJ; Institute for the Study of Inborn Errors of Metabolism, Pontificia Universidad Javeriana, Bogotá, D.C., Colombia., Montaño AM; Department of Pediatrics, Saint Louis University, St. Louis, MO, USA., Yabe H; Department of Cell Transplantation, Tokai University School of Medicine, Isehara, Japan., Tanaka A; Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan., Dung VC; Department of Endocrinology, Metabolism & Genetics, Vietnam National Hospital of Pediatrics, Hanoi, Viet Nam., Giugliani R; Medical Genetics Service/HCPA and Department of Genetics/UFRGS, Porto Alegre, Brazil., Kubaski F; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Department of Biological Sciences, University of Delaware, Newark, DE, USA., Mason RW; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA., Yasuda E; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA., Sawamoto K; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA., Mackenzie W; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA., Suzuki Y; Medical Education Development Center, Gifu University, Japan., Orii KE; Department of Pediatrics, Gifu University, Gifu, Japan., Barrera LA; Institute for the Study of Inborn Errors of Metabolism, Pontificia Universidad Javeriana, Bogotá, D.C., Colombia., Sly WS; Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University, St. Louis, MO, USA., Orii T; Department of Pediatrics, Gifu University, Gifu, Japan. Electronic address: orii.tadao@camel.plala.or.jp.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2015 Feb; Vol. 114 (2), pp. 94-109. Date of Electronic Publication: 2014 Dec 09.

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

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Bone Diseases/*therapy , Mucopolysaccharidoses/*complications , Mucopolysaccharidoses/*therapy, Animals ; Anti-Inflammatory Agents/therapeutic use ; Bone and Bones/pathology ; Chondrocytes/ultrastructure ; Disease Progression ; Enzyme Replacement Therapy ; Genetic Therapy ; Hematopoietic Stem Cell Transplantation ; Humans