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1
المؤلفون: MB Bober, LL Wekre, C Raggio, O Semler, I Westerheim, T Hart, T van Welzenis, M Rapoport, C Leiras, F Rauch
المصدر: Value in Health. 25:S396
مصطلحات موضوعية: Health Policy, Public Health, Environmental and Occupational Health
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2
المؤلفون: C Raggio, LL Wekre, MB Bober, O Semler, I Westerheim, T Hart, T van Welzenis, R Hawthorne, S Prince, F Rauch
المصدر: Value in Health. 25:S401
مصطلحات موضوعية: Health Policy, Public Health, Environmental and Occupational Health
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3دورية أكاديمية
المؤلفون: Hori Y; From the Department of Orthopaedic Surgery, Nemours Children's Health, Wilmington, DE (Hori, Thornley, Almeida da Silva, Kaymaz, Rogers, Yorgova, Bober, Carroll, Kruse, Franzone, Shah), and the Department of Orthopaedic Surgery, University of South Alabama Health, Mobile, AL (McDonald)., McDonald TC, Thornley P, Almeida da Silva LC, Kaymaz B, Rogers KJ, Yorgova PK, Bober MB, Carroll R, Kruse RW, Franzone JM, Shah SA
المصدر: The Journal of the American Academy of Orthopaedic Surgeons [J Am Acad Orthop Surg] 2024 Jul 10. Date of Electronic Publication: 2024 Jul 10.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Wolters Kluwer Country of Publication: United States NLM ID: 9417468 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1940-5480 (Electronic) Linking ISSN: 1067151X NLM ISO Abbreviation: J Am Acad Orthop Surg Subsets: MEDLINE
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4دورية أكاديمية
المؤلفون: Moulton MJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., Atala K; Center for Translational Research, Scottish Rite for Children, Dallas, TX., Zheng Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX; Current address: State Key Laboratory of Cellular Stress Biology, School of Life Sciences, Faculty of Medicine and Life Sciences, Xiamen University, Xiamen, China., Dutta D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., Grange DK; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine and St. Louis Children's Hospital, St. Louis, MO., Lin WW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., Wegner DJ; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine and St. Louis Children's Hospital, St. Louis, MO., Wambach JA; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine and St. Louis Children's Hospital, St. Louis, MO., Duker AL; Skeletal Dysplasia Program, Orthogenetics, Nemours Children's Hospital, Wilmington, DE., Bober MB; Skeletal Dysplasia Program, Orthogenetics, Nemours Children's Hospital, Wilmington, DE., Kratz L; Kennedy Krieger Institute, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD., Wise CA; Center for Translational Research, Scottish Rite for Children, Dallas, TX; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX; Department of Orthopedic Surgery, University of Texas Southwestern Medical Center, Dallas, TX., Oxendine I; Center for Translational Research, Scottish Rite for Children, Dallas, TX., Khanshour A; Center for Translational Research, Scottish Rite for Children, Dallas, TX., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., Cole FS; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine and St. Louis Children's Hospital, St. Louis, MO., Rios J; Center for Translational Research, Scottish Rite for Children, Dallas, TX; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX; Department of Orthopedic Surgery, University of Texas Southwestern Medical Center, Dallas, TX., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX. Electronic address: hbellen@bcm.edu.
مؤلفون مشاركون: Undiagnosed Diseases Network
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jun 03; Vol. 26 (9), pp. 101174. Date of Electronic Publication: 2024 Jun 03.
نوع المنشور: Journal Article
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
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5دورية أكاديمية
المؤلفون: Qi Y; BioMarin Pharmaceutical Inc., 105 Digital Dr., Novato, CA, 949449, USA. yulan.qi@bmrn.com., Chan ML; BioMarin Pharmaceutical Inc., 105 Digital Dr., Novato, CA, 949449, USA., Mould DR; Projections Research Inc., Phoenixville, PA, USA., Larimore K; BioMarin Pharmaceutical Inc., 105 Digital Dr., Novato, CA, 949449, USA., Fisheleva E; BioMarin Pharmaceutical Inc., 105 Digital Dr., Novato, CA, 949449, USA., Cherukuri A; BioMarin Pharmaceutical Inc., 105 Digital Dr., Novato, CA, 949449, USA., Day J; BioMarin (UK) Limited, London, UK., Savarirayan R; Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Parkville, VIC, Australia., Irving M; Guy's and St Thomas' NHS Foundation Trust, Evelina Children's Hospital, London, UK., Bacino CA; Baylor College of Medicine, Houston, TX, USA., Hoover-Fong J; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Ozono K; Osaka University Hospital, Osaka, Japan., Mohnike K; Otto-von-Guericke-Universität, Magdeburg, Germany., Wilcox WR; Emory University, Atlanta, GA, USA., Bober MB; Nemours-Alfred I. du Pont Hospital for Children, Wilmington, DE, USA., Henshaw J; BioMarin Pharmaceutical Inc., 105 Digital Dr., Novato, CA, 949449, USA.
المصدر: Clinical pharmacokinetics [Clin Pharmacokinet] 2024 May; Vol. 63 (5), pp. 707-719. Date of Electronic Publication: 2024 Apr 23.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Country of Publication: Switzerland NLM ID: 7606849 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-1926 (Electronic) Linking ISSN: 03125963 NLM ISO Abbreviation: Clin Pharmacokinet Subsets: MEDLINE
مواضيع طبية MeSH: Achondroplasia*/drug therapy , Models, Biological* , Body Weight*, Humans ; Child ; Adolescent ; Female ; Child, Preschool ; Male ; Infant ; Natriuretic Peptide, C-Type/pharmacokinetics ; Natriuretic Peptide, C-Type/administration & dosage ; Natriuretic Peptide, C-Type/analogs & derivatives ; Dose-Response Relationship, Drug
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المؤلفون: Gourgas O; Department of Medicine, McGill University, Montreal, QC, Canada., Lemire G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Eaton AJ; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; University of Alberta, Edmonton, AB, Canada., Alshahrani S; Faculty of Dental Medicine and Oral Health Sciences, McGill University, Montreal, QC, Canada.; Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia., Duker AL; Nemours Children's Health, Wilmington, DE, USA., Li J; Department of Medicine, McGill University, Montreal, QC, Canada., Carroll RS; Nemours Children's Health, Wilmington, DE, USA., Mackenzie S; Nemours Children's Health, Wilmington, DE, USA., Nikkel SM; University of British Columbia, Vancouver, BC, Canada., Bober MB; Nemours Children's Health, Wilmington, DE, USA., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Murshed M; Department of Medicine, McGill University, Montreal, QC, Canada. monzur.murshed@mcgill.ca.; Faculty of Dental Medicine and Oral Health Sciences, McGill University, Montreal, QC, Canada. monzur.murshed@mcgill.ca.; Shriners Hospitals for Children - Canada, Montreal, QC, Canada. monzur.murshed@mcgill.ca.
مؤلفون مشاركون: Care4Rare Canada Consortium
المصدر: Nature communications [Nat Commun] 2024 Apr 30; Vol. 15 (1), pp. 3655. Date of Electronic Publication: 2024 Apr 30.
نوع المنشور: Published Erratum
بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: PubMed not MEDLINE; MEDLINE
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7دورية أكاديمية
المؤلفون: Westerheim I; Osteogenesis Imperfecta Federation Europe, Heffen, Belgium., Hart T; Osteogenesis Imperfecta Foundation, Gaithersburg, MD, USA., van Welzenis T; Osteogenesis Imperfecta Federation Europe, Heffen, Belgium., Wekre LL; TRS National Resource Center for Rare Disorders, Sunnaas Rehabilitation Hospital, Bjørnemyr, Norway., Semler O; University of Cologne, Cologne, Germany., Raggio C; Hospital for Special Surgery, New York, USA., Bober MB; Alfred I. duPont Hospital, Wilmington, USA., Rapoport M; Wickenstones Ltd., Abingdon, UK. maria@wickenstones.com., Prince S; Wickenstones Ltd., Abingdon, UK., Rauch F; McGill University, Montreal, Canada.
المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 21; Vol. 19 (1), pp. 128. Date of Electronic Publication: 2024 Mar 21.
نوع المنشور: Journal Article
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: Osteogenesis Imperfecta*/complications , Scoliosis*, Adult ; Child ; Humans ; Adolescent ; Quality of Life/psychology ; Caregivers/psychology ; Pain ; Fatigue
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8دورية أكاديمية
المؤلفون: Savarirayan R; Murdoch Children's Research Institute, Royal Children's Hospital, and University of Melbourne, Parkville, VIC, Australia. Electronic address: ravi.savarirayan@vcgs.org.au., Wilcox WR; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Harmatz P; UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA., Phillips J 3rd; Vanderbilt University Medical Center, Nashville, TN, USA., Polgreen LE; Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Tofts L; Kids Rehab, The Children's Hospital at Westmead, Westmead, NSW, Australia., Ozono K; Osaka University Hospital, Osaka, Japan., Arundel P; Sheffield Children's NHS Foundation Trust, Sheffield Children's Hospital, Sheffield, UK., Irving M; Guy's and St Thomas' NHS Foundation Trust, Evelina Children's Hospital, London, UK., Bacino CA; Baylor College of Medicine, Houston, TX, USA., Basel D; Medical College of Wisconsin, Milwaukee, WI, USA., Bober MB; Nemours/Alfred I du Pont Hospital for Children, Wilmington, DE, USA., Charrow J; Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA., Mochizuki H; Saitama Children's Hospital, Saitama, Japan., Kotani Y; Tokushima University Hospital, Tokushima, Japan., Saal HM; Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Army C; BioMarin Pharmaceutical, Novato, CA, USA., Jeha G; BioMarin Pharmaceutical, Novato, CA, USA., Qi Y; BioMarin Pharmaceutical, Novato, CA, USA., Han L; BioMarin Pharmaceutical, Novato, CA, USA., Fisheleva E; BioMarin (UK), London, UK., Huntsman-Labed A; BioMarin (UK), London, UK., Day J; BioMarin (UK), London, UK.
المصدر: The Lancet. Child & adolescent health [Lancet Child Adolesc Health] 2024 Jan; Vol. 8 (1), pp. 40-50. Date of Electronic Publication: 2023 Nov 18.
نوع المنشور: Clinical Trial, Phase II; Journal Article; Multicenter Study; Randomized Controlled Trial
بيانات الدورية: Publisher: Elsevier Ltd Country of Publication: England NLM ID: 101712925 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-4650 (Electronic) Linking ISSN: 23524642 NLM ISO Abbreviation: Lancet Child Adolesc Health Subsets: MEDLINE
مواضيع طبية MeSH: Achondroplasia*/drug therapy , Gastroenteritis*, Female ; Humans ; Infant ; Male ; Double-Blind Method ; Natriuretic Peptide, C-Type/therapeutic use ; Child, Preschool
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9دورية أكاديمية
المؤلفون: Semler O; Faculty of Medicine, Center for Rare Diseases, University Hospital Cologne, University of Cologne, Cologne, Germany. joerg.semler@uk-koeln.de., Cormier-Daire V; Centre of Reference for Constitutional Bone Diseases (MOC), Department of Clinical Genetics, Paris Centre University, INSERM UMR 1163, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France., Lausch E; Pediatric Genetics, Center for Pediatric and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany., Bober MB; Nemours Skeletal Dysplasia Program, Nemours Children's Hospital, Delaware, Wilmington, DE, USA., Carroll R; Nemours Skeletal Dysplasia Program, Nemours Children's Hospital, Delaware, Wilmington, DE, USA., Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; University Clinic of Genetics, Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal., Deyle D; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Faden M; Medical Genetic Unit, Children's Hospital, King Saud Medical City, Riyadh, Saudi Arabia., Hartmann G; Vienna Bone and Growth Center, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Huser AJ; Paley Advanced Limb Lengthening Institute, West Palm Beach, FL, USA., Legare JM; Department of Pediatrics, School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA., Mohnike K; Universitätskinderklinik, Otto-Von-Guericke Universität, Magdeburg, Germany., Rohrer TR; Department of General Pediatrics and Neonatology, Saarland University Medical Centre, Homburg, Germany., Rutsch F; Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany., Smith P; Division of Endocrinology, Phoenix Children's Hospital, Phoenix, AZ, USA., Travessa AM; Department of Medical Genetics, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Faculty of Medicine, University of Lisbon, Lisbon, Portugal., Verardo A; Division of Pediatric Endocrinology, Children's Hospital of New Jersey at Newark Beth Israel Medical Center, Newark, NJ, USA., White KK; Children's Hospital Colorado, Aurora, CO, USA., Wilcox WR; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Hoover-Fong J; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
المصدر: Advances in therapy [Adv Ther] 2024 Jan; Vol. 41 (1), pp. 198-214. Date of Electronic Publication: 2023 Oct 26.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: Health Communications Inc Country of Publication: United States NLM ID: 8611864 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1865-8652 (Electronic) Linking ISSN: 0741238X NLM ISO Abbreviation: Adv Ther
مواضيع طبية MeSH: Natriuretic Peptide, C-Type*/therapeutic use , Achondroplasia*/drug therapy, Child ; Humans ; Delivery of Health Care ; Pain Management
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10دورية أكاديمية
المؤلفون: Rios JJ; Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX 75219, USA; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Departments of Pediatrics University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address: jonathan.rios@tsrh.org., Li Y; Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX 75219, USA., Paria N; Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX 75219, USA., Bohlender RJ; Department of Epidemiology, MD Anderson Cancer Center, Houston, TX 77030, USA., Huff C; Department of Epidemiology, MD Anderson Cancer Center, Houston, TX 77030, USA., Rosenfeld JA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Liu P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Bi W; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Haga K; Department of Integrative Life Sciences, Graduate School of Life Sciences, Tohoku University, Sendai, Miyagi 980-8578, Japan., Fukuda M; Department of Integrative Life Sciences, Graduate School of Life Sciences, Tohoku University, Sendai, Miyagi 980-8578, Japan., Vashisth S; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Kaur K; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Chahrour MH; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Psychiatry, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Peter O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Bober MB; Nemours Children's Hospital, Wilmington, DE 19803, USA; Thomas Jefferson University, Philadelphia, PA 19144, USA., Duker AL; Nemours Children's Hospital, Wilmington, DE 19803, USA., Ladha FA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Hanchard NA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Atala K; Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX 75219, USA., Khanshour AM; Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX 75219, USA., Smith L; Department of Neurology, Scottish Rite for Children, Dallas, TX 75219, USA., Wise CA; Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX 75219, USA; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Departments of Pediatrics University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Delgado MR; Department of Neurology, Scottish Rite for Children, Dallas, TX 75219, USA; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
المصدر: American journal of human genetics [Am J Hum Genet] 2023 Dec 07; Vol. 110 (12), pp. 2103-2111. Date of Electronic Publication: 2023 Nov 03.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
مواضيع طبية MeSH: Haploinsufficiency*/genetics , Spastic Paraplegia, Hereditary*/genetics, Child ; Humans ; Mutation ; Mutation, Missense/genetics ; rab GTP-Binding Proteins/genetics ; rab GTP-Binding Proteins/metabolism ; Golgi Apparatus/metabolism