المؤلفون: Farhan Chowdry, Kelsey M. Miller, Ersan Altun, Sara E. Wobker, Gary S. Gottesman, Hikmat Al-Ahmadie, Tracy L. Rose, Eric M. Wallen, Matthew I. Milowsky

المصدر: Urology Case Reports, Vol 54, Iss , Pp 102710- (2024)

مصطلحات موضوعية: Inflammatory myofibroblastic tumor, X-linked hypophosphatemia, Occam's razor, Hickam's dictum, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214442024000640; https://doaj.org/toc/2214-4420

URL الوصول: https://doaj.org/article/34c7d4f1164a409daa648507933f99b3

المؤلفون: Kathryn McCrystal Dahir, Margo Black, Gary S Gottesman, Erik A Imel, Steven Mumm, Cindy M Nichols, Michael P Whyte

المصدر: JBMR Plus, Vol 6, Iss 12, Pp n/a-n/a (2022)

مصطلحات موضوعية: DISEASES AND DISORDERS RELATED TO BONE, DISORDERS OF CALCIUM/PHOSPHATE METABOLISM, OSTEOMALACIA AND RICKETS, Orthopedic surgery, RD701-811, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2473-4039

URL الوصول: https://doaj.org/article/6ada1b7fc5a14c7ea4fcadd28a3ccbf2

المؤلفون: Erik A Imel, Francis H Glorieux, Michael P Whyte, Anthony A Portale, Craig F Munns, Ola Nilsson, Jill H Simmons, Raja Padidela, Noriyuki Namba, Hae Il Cheong, Pisit Pitukcheewanont, Etienne Sochett, Wolfgang Högler, Koji Muroya, Hiroyuki Tanaka, Gary S Gottesman, Andrew Biggin, Farzana Perwad, Angel Chen, Mary Scott Roberts, Leanne M Ward

المصدر: The Journal of Clinical Endocrinology & Metabolism.

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ed138d999d811d037c85061f3e08ec9c
https://doi.org/10.1210/clinem/dgad230

المؤلفون: Caleb W. Grote, Jeffrey J. Nepple, Perry L. Schoenecker, Gary S. Gottesman, J. Eric Gordon, Mark L. Miller

المصدر: Journal of Pediatric Orthopaedics.

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Orthopedics and Sports Medicine, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0bdbcfe8a780e9b2236aa42d6b8e67b8
https://doi.org/10.1097/bpo.0000000000002393

المؤلفون: null Kathryn McCrystal Dahir, null Margo Black, null Gary S. Gottesman, null Erik A. Imel, null Steven Mumm, null Cindy M. Nichols, null Michael P. Whyte

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8520cd5b5b74d8576aee2882bea9747f
https://doi.org/10.1002/jbm4.10692/v2/response1

المؤلفون: Andrew Hornback, Wenqi Shi, Felipe O. Giuste, Yuanda Zhu, Ashley M. Carpenter, Coleman Hilton, Vinieth N. Bijanki, Hiram Stahl, Gary S. Gottesman, Chad Purnell, Henry J. Iwinski, J. Michael Wattenbarger, May D. Wang

المصدر: Proceedings of the 13th ACM International Conference on Bioinformatics, Computational Biology and Health Informatics.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ce54c3ce5c4dc3e82ac4ae7f7fdfda24
https://doi.org/10.1145/3535508.3545565

المؤلفون: Leanne M Ward, Francis H Glorieux, Michael P Whyte, Craig F Munns, Anthony A Portale, Wolfgang Högler, Jill H Simmons, Gary S Gottesman, Raja Padidela, Noriyuki Namba, Hae Il Cheong, Ola Nilsson, Meng Mao, Angel Chen, Alison Skrinar, Mary Scott Roberts, Erik A Imel

المصدر: The Journal of clinical endocrinology and metabolism. 107(8)

مصطلحات موضوعية: Fibroblast Growth Factors, Endocrinology, Adolescent, Hypophosphatemia, Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, Antibodies, Monoclonal, Humans, Familial Hypophosphatemic Rickets, Antibodies, Monoclonal, Humanized, Child, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3833b9528dd71f24ad205d4bd938d40
https://pubmed.ncbi.nlm.nih.gov/35533340

المؤلفون: Hae Il Cheong, Meng Mao, Ola Nilsson, Alison Skrinar, Gary S. Gottesman, Wolfgang Högler, Javier San Martin, Hiroyuki Tanaka, Noriyuki Namba, Raja Padidela, Francis H. Glorieux, Michael P. Whyte, Koji Muroya, Craig F Munns, Chao-Yin Chen, Andrew Biggin, Erik A. Imel, Etienne Sochett, Leanne Ward, Anthony A. Portale, Jill H. Simmons, Farzana Perwad, Pisit Pitukcheewanont

المصدر: The Lancet. 393:2416-2427

مصطلحات موضوعية: Male, Fibroblast growth factor 23, medicine.medical_specialty, Rickets, 030204 cardiovascular system & hematology, Antibodies, Monoclonal, Humanized, Severity of Illness Index, Elevated serum, 03 medical and health sciences, Child Development, 0302 clinical medicine, Unknown Significance, Phase (matter), Internal medicine, Clinical endpoint, Humans, Immunologic Factors, Medicine, 030212 general & internal medicine, Child, business.industry, Therapy group, Antibodies, Monoclonal, Infant, General Medicine, medicine.disease, Body Height, Fibroblast Growth Factor-23, Treatment Outcome, Child, Preschool, Female, Familial Hypophosphatemic Rickets, Open label, Dominant inheritance, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cefd2d3a00c5611970a49412fd42797f
https://doi.org/10.1016/s0140-6736(19)30654-3

المؤلفون: Michael P, Whyte, Jennifer D, May, William H, McAlister, Katherine, Burgener, Samuel R, Cortez, Raymond, Kreienkamp, Olivia, Castro, Rachel, Verzola, Ana Solis, Zavala, Christopher C, McPherson, Gary S, Gottesman, Karen L, Ericson, Stephen P, Coburn, Ana Maria, Arbelaez

المصدر: Bone. 150

مصطلحات موضوعية: Male, Pyridoxal, Pregnancy, Infant, Newborn, Humans, Hypophosphatasia, Female, Vitamins, Alkaline Phosphatase, Vitamin B 6, Phosphates

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6940df1d945849f94c96dddbb9e2d5d5
https://pubmed.ncbi.nlm.nih.gov/34000433

المؤلفون: Annabel Nixon, Ola Nilsson, Farzana Perwad, Etienne Sochett, Raja Padidela, Wei Sun, Anthony A. Portale, Craig F Munns, Francis H. Glorieux, Andrew Biggin, Michael P. Whyte, Hiroyuki Tanaka, Noriyuki Namba, Wolfgang Högler, Pisit Pitukcheewanont, Erik A. Imel, Hae Il Cheong, Alison Skrinar, Angel Chen, Leanne M Ward, Gary S. Gottesman, Angela Williams, Koji Muroya, Jill H. Simmons

المصدر: Calcified Tissue International

مصطلحات موضوعية: Fibroblast growth factor 23, medicine.medical_specialty, Patient-Reported Outcomes Measurement Information System, X-linked hypophosphatemia, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Rickets, Antibodies, Monoclonal, Humanized, 03 medical and health sciences, Patient-reported outcomes measurement information system, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, Orthopedics and Sports Medicine, Patient Reported Outcome Measures, Child, Original Research, Patient-reported outcomes, business.industry, Antibodies, Monoclonal, medicine.disease, Burosumab, Standard error, 030220 oncology & carcinogenesis, Orthopedic surgery, Familial Hypophosphatemic Rickets, Open label, business, Hypophosphatemia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fab3cff8101c1e01df43fe8de9b1378
https://pubmed.ncbi.nlm.nih.gov/33484279

المؤلفون: Gary S. Gottesman, Margaret Huskey, Shenghui Duan, James Aronson, William H. McAlister, Karen L. Clements, Steven Mumm, Michael P. Whyte, Vinieth N. Bijanki, Horacio Plotkin, Marina Stolina, Robert S. Weinstein, Deborah Wenkert, Katherine L Madson

المصدر: Bone. 145

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Hyperostosis, Pathology, medicine.medical_specialty, Histology, Physiology, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Bone and Bones, Bone remodeling, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Humans, Child, Periosteum, Hyaline cartilage, business.industry, Ossification, Cartilage, Infant, Membrane Proteins, Middle Aged, Osteogenesis Imperfecta, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Osteogenesis imperfecta, Mutation, Heterotopic ossification, Female, medicine.symptom, business, 5' Untranslated Regions

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ae5a553235502b13bc70d01706e1921
https://pubmed.ncbi.nlm.nih.gov/33360005

المؤلفون: Nori Kurihara, Homer Sedighi, Steven Mumm, Michael P. Whyte, William H. McAlister, Deborah J. Veis, G. David Roodman, Vinieth N. Bijanki, Philippe M. Campeau, Angela Nenninger, Gary S. Gottesman, Shenghui Duan

المصدر: Bone

مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, medicine.medical_specialty, Histology, Physiology, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Article, Bone remodeling, 03 medical and health sciences, Osteosclerosis, Young Adult, 0302 clinical medicine, Osteoprotegerin, Osteoclast, Internal medicine, Gene duplication, Medicine, Missense mutation, Humans, Sequence Deletion, biology, business.industry, Homozygote, RANK Ligand, Osteoblast, medicine.disease, Osteitis Deformans, 3. Good health, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, RANKL, Sp7 Transcription Factor, Child, Preschool, Mutation, biology.protein, Female, business, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5a8f7629a04e8374c56b009d6052fe8
https://europepmc.org/articles/PMC8054448/

المؤلفون: Per Magnusson, Nina S. Ma, Gary S. Gottesman, William H. McAlister, Karen L. Ericson, Angela Nenninger, Steven Mumm, Michael P. Whyte, Vinieth N. Bijanki

المصدر: Bone. 138

مصطلحات موضوعية: 0301 basic medicine, Gene isoform, Male, medicine.medical_specialty, Histology, Physiology, Endocrinology, Diabetes and Metabolism, Hypophosphatasia, 030209 endocrinology & metabolism, Isozyme, Bone and Bones, 03 medical and health sciences, 0302 clinical medicine, N-terminal telopeptide, Internal medicine, medicine, Humans, Renal Insufficiency, Chronic, Child, Minerals, Chemistry, ALPL, Osteoblast, medicine.disease, Alkaline Phosphatase, Isoenzymes, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, Alkaline phosphatase, Type I collagen

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55cc2f758efa061dc172de5729bd06af
https://pubmed.ncbi.nlm.nih.gov/32474245

المؤلفون: James Avery, Steven Mumm, Gary S. Gottesman, Cheng Cheng, Michael P. Whyte

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: Genetics, Hearing loss, business.industry, Bone and Mineral Metabolism, Endocrinology, Diabetes and Metabolism, LRP5, Text mining, Unknown Significance, Mutation (genetic algorithm), medicine, Identification (biology), medicine.symptom, business, Bone and Mineral Case Reports I, AcademicSubjects/MED00250, Bone mass

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::506543a01206f74c06d1f861b635b280
https://doi.org/10.1210/jendso/bvaa046.149

المؤلفون: Gary S. Gottesman, Michael P. Whyte

المصدر: Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. :878-885

مصطلحات موضوعية: 0301 basic medicine, Marfan syndrome, 03 medical and health sciences, medicine.medical_specialty, 030104 developmental biology, business.industry, Internal medicine, Cardiology, Medicine, business, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::94c48a5fd81307ac60098fc24acb13b4
https://doi.org/10.1002/9781119266594.ch114

المؤلفون: Vinieth N. Bijanki, Lien Trinh, Steven Mumm, Michael P. Whyte, William H. McAlister, Gary S. Gottesman, Emilina Lim, Angela Nenninger, David Buchbinder, Matthew G Boden, Deborah J. Veis

المصدر: Journal of Bone and Mineral Research. 33:2071-2080

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Nod2 Signaling Adaptor Protein, Arthritis, Article, Bone and Bones, 03 medical and health sciences, Osteosclerosis, 0302 clinical medicine, Bone Marrow, Synovitis, medicine, Humans, Orthopedics and Sports Medicine, Amino Acid Sequence, Vitamin D, Blau syndrome, 030203 arthritis & rheumatology, Granuloma, Base Sequence, business.industry, Synovial Membrane, Osteopetrosis, medicine.disease, 030104 developmental biology, Child, Preschool, Mutation, Hypercalcemia, Female, Sarcoidosis, Nephrocalcinosis, Generalized osteosclerosis, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ed2bb45082a0741a45db3ea1ac9be4e
https://doi.org/10.1002/jbmr.3532

المؤلفون: Maria Díaz-González de Ferris, Prameela Ramesan, Gary S. Gottesman, Jill H. Simmons, Kathryn Dahir, Ruban Dhaliwal, Erik A. Imel, Allison I Hoch, Gnanagurudasan Prakasam, John D. Mahan

المصدر: Journal of the Endocrine Society. 5:A261-A262

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, medicine, X-linked hypophosphatemia, medicine.disease, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6cc38263cf02cdced9effdceb7bbb93c
https://doi.org/10.1210/jendso/bvab048.531

المؤلفون: Ghada A. Otaify, Marina Stolina, Marwan Shinawi, Olivier Lichtarge, Abby S. Hollander, Wei-Shen Chen, Samir K. El-Mofty, J. Eric Gordon, Albert S. Woo, Gary S. Gottesman, Michael P. Whyte, Marisa V. Andrews, William H. McAlister, Panagiotis Katsonis, Fan Zhang, Deborah V. Veis

المصدر: Bone. 107:161-171

مصطلحات موضوعية: Male, 0301 basic medicine, Diaphyseal sclerosis, Pathology, medicine.medical_specialty, Histology, Physiology, Gnathodiaphyseal dysplasia, Endocrinology, Diabetes and Metabolism, Mutation, Missense, Anoctamins, Article, 03 medical and health sciences, Exon, medicine, Humans, Missense mutation, Genetics, business.industry, Osteogenesis Imperfecta, Debulking, medicine.disease, Cherubism, Phenotype, 030104 developmental biology, Child, Preschool, Maxilla, Mutation (genetic algorithm), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c278a031c382deed498d3c032059df01
https://doi.org/10.1016/j.bone.2017.11.012

المؤلفون: Michael P. Whyte, Samuel R. Cortez, Katherine Burgener, Raymond Kreienkamp, William H. McAlister, Stephen P. Coburn, Ana Solis Zavala, Olivia Castro, Gary S. Gottesman, Karen L. Ericson, Rachel Verzola, Jennifer D. May, Ana Maria Arbelaez, Christopher McPherson

المصدر: Bone. 150:116007

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Histology, Physiology, Endocrinology, Diabetes and Metabolism, Hypophosphatasia, ALPL, 030209 endocrinology & metabolism, Rickets, Pyridoxine, medicine.disease, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, Endocrinology, medicine.anatomical_structure, chemistry, Asfotase alfa, Internal medicine, Lactation, medicine, Alkaline phosphatase, Pyridoxal, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6fe56daed5c1f2f7d798ac6951c38494
https://doi.org/10.1016/j.bone.2021.116007

المؤلفون: Steven Mumm, Michael P. Whyte, Gary S. Gottesman, Elaine R. Mardis, Kilannin Krysiak, Lee Trani, Susan J. Bayliss, Robert Lesurf, Angela Nenninger, Vinieth N. Bijanki, Brian A. Van Tine, Obi L. Griffith, Katie M. Campbell, Malachi Griffith, Ilana S. Rosman, William H. McAlister, Zachary L. Skidmore

المصدر: Bone. 101:145-155

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Histology, Adolescent, Melorheostosis, Physiology, Endocrinology, Diabetes and Metabolism, Biology, medicine.disease_cause, Article, Proto-Oncogene Proteins p21(ras), 03 medical and health sciences, Osteosclerosis, 0302 clinical medicine, Germline mutation, hemic and lymphatic diseases, medicine, PIK3CA Gene Mutation, Humans, Exome, Genetic Predisposition to Disease, Nevus, neoplasms, Osteopoikilosis, Exome sequencing, Mosaicism, medicine.disease, carbohydrates (lipids), 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, KRAS, Haploinsufficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1c142b3f91307db7a29548aa52ff94c
https://doi.org/10.1016/j.bone.2017.04.010