polyostotic fibrous dysplasia

Summary

Summary: FIBROUS DYSPLASIA OF BONE affecting several or many bones. When associated with melanotic pigmentation of the skin and endocrine disorders, it is known as Albright's syndrome. (From Dorland, 28th ed)

Top Publications

  1. pmc A case of McCune-Albright syndrome with associated multiple endocrinopathies
    Sang Hun Sung
    Department of Internal Medicine, Catholic University of Daegu School of Medicine, Daegu, Korea
    Korean J Intern Med 22:45-50. 2007
  2. ncbi [Fibrous dysplasia of bone in a young male]
    Guillermo Alonso
    Servicio de Endocrinología Hospital Universitario San Cecilio de Granada Granada España
    Endocrinol Nutr 56:195-200. 2009
  3. ncbi Activating mutations of the stimulatory G protein in the McCune-Albright syndrome
    L S Weinstein
    Molecular Pathophysiology Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892
    N Engl J Med 325:1688-95. 1991
  4. pmc Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome
    W F Schwindinger
    Division of Endocrinology and Metabolism, Johns Hopkins University School of Medicine, Baltimore, MD 21205
    Proc Natl Acad Sci U S A 89:5152-6. 1992
  5. ncbi Effect of pamidronate treatment in children with polyostotic fibrous dysplasia of bone
    Horacio Plotkin
    Genetics Unit, Shriners Hospital for Children, Quebec, Canada H3G 1A6
    J Clin Endocrinol Metab 88:4569-75. 2003
  6. ncbi Misdiagnosis of multiple bone metastases due to increased FDG uptake in polyostotic fibrous dysplasia
    Chia Hung Kao
    Department of Nuclear Medicine and PET Center, China Medical University Hospital, Taichung, Taiwan
    Clin Nucl Med 32:409-10. 2007
  7. ncbi Symptomatic polyostotic fibrous dysplasia of the thoracic spine
    Mehmet Tezer
    Orthopedic Surgery, Istanbul Spine Center, Florence Nightingale Hospital, Abide i Hurriyet Caddesi No 290, 80220, Sisli, Istanbul, Turkey
    Joint Bone Spine 73:742-4. 2006
  8. ncbi McCune-Albright syndrome: growth hormone dynamics in pregnancy
    K Obuobie
    Department of Medicine, University of Wales College of Medicine, Cardiff, United Kingdom
    J Clin Endocrinol Metab 86:2456-8. 2001
  9. ncbi Epidermal nevus syndrome associated with polyostotic fibrous dysplasia, CNS lipoma, and aplasia cutis
    Miguel Cabanillas
    Department of Dermatology, Complexo Hospitalario Arquitecto Marcide Novoa Santos, Ferrol, Spain
    Dermatol Online J 15:7. 2009
  10. ncbi Pamidronate treatment of polyostotic fibrous dysplasia: failure to prevent expansion of dysplastic lesions during childhood
    Brendan Chan
    Department of Endocrinology and Diabetes, Royal Children s Hospital, Parkville, Victoria, Australia
    J Pediatr Endocrinol Metab 19:75-80. 2006

Research Grants

  1. Characterization of Familial Myopathy & Paget Disease
    Virginia Kimonis; Fiscal Year: 2004
  2. Characterization of Familial Myopathy & Paget Disease
    Virginia Kimonis; Fiscal Year: 2005
  3. Characterization of Familial Myopathy & Paget Disease
    Virginia Kimonis; Fiscal Year: 2003
  4. Regulatory Kinases in BMP-mediated hMSC Osteogenesis
    SUNDAY AKINTOYE; Fiscal Year: 2006
  5. Molecular Mechanisms of Ectopic Bone Formation
    STEVEN LIETMAN; Fiscal Year: 2006
  6. Treatment of Osteoradionecrosis with Bone Marrow Stromal Cells
    SUNDAY AKINTOYE; Fiscal Year: 2007
  7. Treatment of Osteoradionecrosis with Bone Marrow Stromal Cells
    SUNDAY AKINTOYE; Fiscal Year: 2008
  8. Molecular Mechanisms in Bone Resorption
    STEVEN LIETMAN; Fiscal Year: 2008
  9. Molecular Mechanisms in Bone Resorption
    STEVEN LIETMAN; Fiscal Year: 2009
  10. Molecular Mechanisms in Bone Resorption
    Steven A Lietman; Fiscal Year: 2010

Detail Information

Publications148 found, 100 shown here

  1. pmc A case of McCune-Albright syndrome with associated multiple endocrinopathies
    Sang Hun Sung
    Department of Internal Medicine, Catholic University of Daegu School of Medicine, Daegu, Korea
    Korean J Intern Med 22:45-50. 2007
    ..It is characterized by an association with Polyostotic fibrous dysplasia, and precocious puberty, Caf-au-lait pigmentation, and other endocrinopathies that result from the ..
  2. ncbi [Fibrous dysplasia of bone in a young male]
    Guillermo Alonso
    Servicio de Endocrinología Hospital Universitario San Cecilio de Granada Granada España
    Endocrinol Nutr 56:195-200. 2009
    ..We present a case of polyostotic fibrous dysplasia of bone in a 19-year-old male.
  3. ncbi Activating mutations of the stimulatory G protein in the McCune-Albright syndrome
    L S Weinstein
    Molecular Pathophysiology Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892
    N Engl J Med 325:1688-95. 1991
    The McCune-Albright syndrome is a sporadic disease characterized by polyostotic fibrous dysplasia, café au lait spots, sexual precocity, and hyperfunction of multiple endocrine glands...
  4. pmc Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome
    W F Schwindinger
    Division of Endocrinology and Metabolism, Johns Hopkins University School of Medicine, Baltimore, MD 21205
    Proc Natl Acad Sci U S A 89:5152-6. 1992
    McCune-Albright syndrome (MAS) is characterized by polyostotic fibrous dysplasia, café-au-lait lesions, and a variety of endocrine disorders, including precocious puberty, hyperthyroidism, hypercortisolism, growth hormone excess, and ..
  5. ncbi Effect of pamidronate treatment in children with polyostotic fibrous dysplasia of bone
    Horacio Plotkin
    Genetics Unit, Shriners Hospital for Children, Quebec, Canada H3G 1A6
    J Clin Endocrinol Metab 88:4569-75. 2003
    ..In conclusion, pamidronate therapy appears to be safe in children and adolescents with polyostotic FD. However, we found no clear evidence that pamidronate has an effect on dysplastic lesions in such patients...
  6. ncbi Misdiagnosis of multiple bone metastases due to increased FDG uptake in polyostotic fibrous dysplasia
    Chia Hung Kao
    Department of Nuclear Medicine and PET Center, China Medical University Hospital, Taichung, Taiwan
    Clin Nucl Med 32:409-10. 2007
  7. ncbi Symptomatic polyostotic fibrous dysplasia of the thoracic spine
    Mehmet Tezer
    Orthopedic Surgery, Istanbul Spine Center, Florence Nightingale Hospital, Abide i Hurriyet Caddesi No 290, 80220, Sisli, Istanbul, Turkey
    Joint Bone Spine 73:742-4. 2006
    We present a case of polyostotic fibrous dysplasia with limited involvement in thoracic spine and adjacent ribs...
  8. ncbi McCune-Albright syndrome: growth hormone dynamics in pregnancy
    K Obuobie
    Department of Medicine, University of Wales College of Medicine, Cardiff, United Kingdom
    J Clin Endocrinol Metab 86:2456-8. 2001
    ....
  9. ncbi Epidermal nevus syndrome associated with polyostotic fibrous dysplasia, CNS lipoma, and aplasia cutis
    Miguel Cabanillas
    Department of Dermatology, Complexo Hospitalario Arquitecto Marcide Novoa Santos, Ferrol, Spain
    Dermatol Online J 15:7. 2009
    ..a patient with an extensive epidermal nevus associated with various organ abnormalities, particularly polyostotic fibrous dysplasia, central nervous system lipoma, and aplasia cutis...
  10. ncbi Pamidronate treatment of polyostotic fibrous dysplasia: failure to prevent expansion of dysplastic lesions during childhood
    Brendan Chan
    Department of Endocrinology and Diabetes, Royal Children s Hospital, Parkville, Victoria, Australia
    J Pediatr Endocrinol Metab 19:75-80. 2006
    ..To examine outcomes of pamidronate treatment on fibrous dysplasia of bone in three children with McCune-Albright syndrome (MAS)...
  11. ncbi McCune-Albright syndrome and acromegaly: effects of hypothalamopituitary radiotherapy and/or pegvisomant in somatostatin analog-resistant patients
    Francoise Galland
    Service d endocrinologie et des maladies de la reproduction, Hopital de Bicetre, 78 rue du Général Leclercqq, 94275 Le Kremlin Bicetre, France
    J Clin Endocrinol Metab 91:4957-61. 2006
    ..Somatostatin analogs (SAs) generally give only partial responses. The use of radiotherapy (RT) is controversial because of a possible risk of bone sarcomatous transformation...
  12. ncbi Hypophosphatemic rickets and osteomalacia in polyostotic fibrous dysplasia
    Arijit Chattopadhyay
    Department of Endocrinology, PGIMER, Chandigarh, India
    J Pediatr Endocrinol Metab 16:893-6. 2003
    A 17 year-old girl with polyostotic fibrous dysplasia and hypophosphatemia had inappropriately low tubular reabsorption of phosphate. She had radiological evidence of rickets and osteomalacia...
  13. ncbi Tamoxifen treatment for precocious puberty in McCune-Albright syndrome: a multicenter trial
    Erica A Eugster
    James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
    J Pediatr 143:60-6. 2003
    ..We undertook a 1-year multicenter trial of tamoxifen treatment for precocious puberty in girls with McCune-Albright syndrome (MAS)...
  14. ncbi Osteomalacic and hyperparathyroid changes in fibrous dysplasia of bone: core biopsy studies and clinical correlations
    Alessandro Corsi
    Dipartimento di Medicina Sperimentale, Universita dell Aquila, L Aquila, Italy
    J Bone Miner Res 18:1235-46. 2003
    ..Compared with unaffected bone, lesional FD bone seemed to be very sensitive to the effects of PTH and renal phosphate wasting, which respectively bring about hyperparathyroid or osteomalacic changes in the lesional bone...
  15. ncbi Is McCune-Albright syndrome overlooked in subjects with fibrous dysplasia of bone?
    Tamara S Hannon
    Department of Pediatrics, Section of Pediatric Endocrinology Diabetology, James Whitcomb Riley Hospital for Children, Indianapolis, Indiana 46202, USA
    J Pediatr 142:532-8. 2003
    ..MAS) is characterized by a clinical triad of endocrinopathies, café au lait pigmentation, and polyostotic fibrous dysplasia of bone...
  16. ncbi Letrozole treatment of precocious puberty in girls with the McCune-Albright syndrome: a pilot study
    Penelope Feuillan
    National Institutes of Health, Bethesda, MD 20892, USA
    J Clin Endocrinol Metab 92:2100-6. 2007
    ..Their puberty does not respond to GnRH agonist therapy, and short-acting aromatase inhibitors have had limited effectiveness...
  17. ncbi Characterization of gsp-mediated growth hormone excess in the context of McCune-Albright syndrome
    Sunday O Akintoye
    Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research NIH, Building 30, MSC 4320, Bethesda, MD 20892 4320, USA
    J Clin Endocrinol Metab 87:5104-12. 2002
    ..syndrome (MAS) is a disorder characterized by the triad of café-au-lait skin pigmentation, polyostotic fibrous dysplasia of bone, and hyperfunctioning endocrinopathies, including GH excess...
  18. ncbi Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations
    Michael T Collins
    Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892 4320, USA
    J Clin Endocrinol Metab 88:4413-7. 2003
    McCune-Albright syndrome (MAS) is defined by the triad of café-au-lait skin pigmentation, polyostotic fibrous dysplasia, and hyperfunctioning endocrinopathies, such as precocious puberty, hyperthyroidism, GH excess, and Cushing's ..
  19. ncbi McCune-Albright syndrome in adulthood
    Philippe Chanson
    Department of Endocrinology and Reproductive Diseases, Hôpital de Bicêtre and Universite Paris Sud 11, 78 rue du General Leclerc, F 94275 Le Kremlin Bicetre, France
    Pediatr Endocrinol Rev 4:453-62. 2007
    ..Recent data suggest that cancer incidence in adulthood (bone, breast, thyroid...) is increased in these patients...
  20. ncbi CT and MRI in the evaluation of craniospinal involvement with polyostotic fibrous dysplasia in McCune-Albright syndrome
    Nail Bulakbasi
    Department of Radiology, Gulhane Military Medical Academy School of Medicine, Ankara, Turkey
    Diagn Interv Radiol 14:177-81. 2008
    ..CT) and magnetic resonance imaging (MRI) in the evaluation of craniospinal involvement with polyostotic fibrous dysplasia (PFD) in McCune-Albright syndrome (MAS) and related complications were reviewed...
  21. doi Craniofacial polyostotic fibrous dysplasia: a case report and review of the literature
    Ahmad Abdelkarim
    Department of Dental Diagnostic Science, Dental School, The University of Texas Health Science Center at San Antonio, San Antonio, TX 78229 3900, USA
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod 106:e49-55. 2008
    ..In this case, all FD lesions were radiopaque and presented with ground glass appearance. The relative importance of each imaging modality in the diagnosis and assessment of FD is discussed...
  22. ncbi Normal vision despite narrowing of the optic canal in fibrous dysplasia
    Janice S Lee
    Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA
    N Engl J Med 347:1670-6. 2002
    ..This question is of particular concern in patients with normal vision, since the risks associated with surgical decompression include blindness...
  23. ncbi Image diagnosis in McCune-Albright syndrome
    Claudio Defilippi
    Radiology Department, Regina Margherita Children s Hospital, Turin, Italy
    J Pediatr Endocrinol Metab 19:561-70. 2006
    McCune-Albright syndrome consists of polyostotic fibrous dysplasia, precocious puberty and cafè-au-lait skin lesions...
  24. ncbi Bone mineralization in polyostotic fibrous dysplasia: histomorphometric analysis
    Leonieke Terpstra
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 17:1949-53. 2002
    ..It is debatable whether the mild systemic mineralization defect warrants treatment with oral phosphorus supplementation if signs of rickets are absent...
  25. ncbi Fibrous dysplasia in the spine: prevalence of lesions and association with scoliosis
    Arabella I Leet
    Department of Orthopaedics, John Hopkins Medicine, 601 North Caroline Street, Room 5255, Baltimore, MD 21287, USA
    J Bone Joint Surg Am 86:531-7. 2004
    ..dysplasia involving the spine and scoliosis are thought to be uncommon entities in patients with polyostotic fibrous dysplasia and McCune-Albright syndrome...
  26. ncbi Clinical implications of genetic defects in G proteins: oncogenic mutations in G alpha s as the molecular basis for the McCune-Albright syndrome
    M A Levine
    Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
    Arch Med Res 30:522-31. 1999
    ....
  27. ncbi Oral alendronate treatment for polyostotic fibrous dysplasia: a case report
    Yasuyuki Kitagawa
    The Department of Orthopaedic Surgery, Nippon Medical School, 1 1 5 Sendagi, Bunkyo ku, 113 8603, Tokyo, Japan
    J Orthop Sci 9:521-5. 2004
    ..We describe a patient with polyostotic fibrous dysplasia, who had complained of persistent pain for more than 20 years, that was treated with oral alendronate ..
  28. ncbi McCune-Albright syndrome and disorders due to activating mutations of GNAS1
    Alejandro Diaz
    Division of Pediatric Endocrinology, Weill Medical College of Cornell University, New York, NY, USA
    J Pediatr Endocrinol Metab 20:853-80. 2007
    ..We discuss here the clinical consequences of GNAS1 activating mutations in different body systems and organs, the diagnostic approach to MAS, and the current therapeutic recommendations...
  29. ncbi Fracture incidence in polyostotic fibrous dysplasia and the McCune-Albright syndrome
    Arabella I Leet
    Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892 4320, USA
    J Bone Miner Res 19:571-7. 2004
    In patients with polyostotic fibrous dysplasia of bone, the peak incidence of fractures is during the first decade of life, followed by a decrease thereafter...
  30. pmc C2/C3 pathologic fractures from polyostotic fibrous dysplasia of the cervical spine treated with percutaneous vertebroplasty
    David Dang
    Department of Radiology, Ohio State University, Columbus, OH, USA
    Eur Spine J 16:250-4. 2007
    ..b>Polyostotic fibrous dysplasia involvement of the cervical spine is rare...
  31. ncbi Renal phosphate wasting in fibrous dysplasia of bone is part of a generalized renal tubular dysfunction similar to that seen in tumor-induced osteomalacia
    M T Collins
    Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892-4320, USA
    J Bone Miner Res 16:806-13. 2001
    ..These data show that phosphaturia as part of a generalized renal tubulopathy represents the most common extraskeletal manifestation of FD and that the observed tubulopathy is similar to that seen in tumor-induced osteomalacia (TIO)...
  32. ncbi Thyroid disease in patients with McCune-Albright syndrome
    Valentina Congedo
    Clinical Endocrinology Branch, National Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health Bethesda, Maryland 20892, USA
    Pediatr Endocrinol Rev 4:429-33. 2007
    ..Although thyroid cancer has been described in two cases of MAS, the prevalence of malignancy does not appear to be high. The therapeutic options in MAS involvement of the thyroid gland include thionamides, 131Iodine and surgery...
  33. ncbi Pegvisomant for the treatment of gsp-mediated growth hormone excess in patients with McCune-Albright syndrome
    Sunday O Akintoye
    Department of Oral Medicine, School of Dental Medicine, University of Pennsylvania, The Robert Schattner Center Room 209, 240 South 40th Street, Philadelphia, PA 19104, USA
    J Clin Endocrinol Metab 91:2960-6. 2006
    ..These same mutations are found in approximately one third of the sporadic cases of acromegaly...
  34. ncbi Polyostotic fibrous dysplasia with cranial hyperostosis: new entity or most severe form of polyostotic fibrous dysplasia?
    D L Viljoen
    Department of Human Genetics, Medical School, University of Cape Town, South Africa
    Am J Med Genet 29:661-7. 1988
    ..It is questionable whether this condition is an autonomous entity or represents the end of the spectrum of severity of polyostotic fibrous dysplasia.
  35. ncbi [Polyostotic fibrous dysplasia of the thoracic spine. A case study and review of the literature]
    M Ould Slimane
    Service de Neurochirurgie, CHU de Rouen, 1, avenue de Germont, 76031 Rouen Cedex, France
    Neurochirurgie 55:595-9. 2009
    b>Polyostotic fibrous dysplasia of the thoracic spine is extremely rare and considered a benign disease. We report the case of a 46-year-old woman admitted to the emergency department for subacute paraplegia...
  36. pmc McCune-Albright syndrome
    Claudia E Dumitrescu
    Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA
    Orphanet J Rare Dis 3:12. 2008
    ..Treatment of all endocrinopathies is required. Malignancies associated with MAS are distinctly rare occurrences. Malignant transformation of FD lesions occurs in probably less than 1% of the cases of MAS...
  37. ncbi Pseudohypoparathyroidism: history of the disease
    Luisa de Sanctis
    Department of Pediatric Sciences, University of Torino, Italy
    J Pediatr Endocrinol Metab 19:627-33. 2006
  38. ncbi Gs alpha-related precocious puberty in females: focus on treatment
    Tamara S Hannon
    Department of Pediatrics, Division of Endocrinology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA
    J Pediatr Endocrinol Metab 19:605-6. 2006
  39. ncbi Laparoscopic management of ovarian cysts in peripheral precocious puberty of McCune-Albright syndrome
    Roberto Gesmundo
    B Division of Pediatric Surgery, University of Turin, Regina Margherita Children s Hospital, Turin, Italy
    J Pediatr Endocrinol Metab 19:571-5. 2006
    ..It can be conducted with trans-umbilical laparoscopic ovarian cystectomy (TULOC) before 3 years of age and with traditional techniques afterwards...
  40. doi Regulation of spermatogenesis in McCune-Albright syndrome: lessons from a 15-year follow-up
    Filippo De Luca
    Department of Pediatrics, University of Messina, 01924 Messina, Italy
    Eur J Endocrinol 158:921-7. 2008
    ..Sexual precocity, common in girls, has been reported in only 15% of boys, and little is known on the long-term evolution of MAS in males...
  41. ncbi McCune-Albright syndrome: clinical picture and natural history in children and adolescents
    Thomas M K Völkl
    Division of Pediatric Endocrinology, Hospitalfor Children and Adolescents, Friedrich Alexander University of Erlangen, Nuremberg, Germany
    J Pediatr Endocrinol Metab 19:551-9. 2006
    The classical triad of McCune-Albright syndrome (MAS) consists of polyostotic fibrous dysplasia (FD), skin hyperpigmentation (café-au-lait spots), and endocrine dysfunction, frequently seen in females as precocious puberty...
  42. ncbi G(s)alpha mutations in fibrous dysplasia and McCune-Albright syndrome
    Lee S Weinstein
    Metabolic Diseases Branch, National Institutes of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Bone Miner Res 21:P120-4. 2006
    ..Parental origin of the mutated allele may also affect the clinical presentation, because G(s)alpha is imprinted and expressed only from the maternal allele in some tissues (e.g., pituitary somatotrophs)...
  43. ncbi [Precocious puberty caused by McCune-Albright syndrome in a girl aged 6 years and 9 months]
    Beata Wikiera
    Klinika Endokrynologii i Diabetologii Wieku Rozwojowego AM we Wrocławiu, Wrocław
    Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw 12:63-7. 2006
    The McCune-Albright syndrome is characterised by polyostotic fibrous dysplasia, "cafe-au-lait" spots and autonomous hyperfunction of various endocrine organs...
  44. ncbi A case of McCune-Albright syndrome associated with Gs alpha mutation in the bone tissue
    Haluk Sargin
    Section of Endocrinology and Metabolism, Department of 1st Internal Medicine, Dr Lutfi Kirdar Kartal Education Hospital, Istanbul, Turkey
    Endocr J 53:35-44. 2006
    ..of McCune-Albright syndrome (MAS) is clasically defined as a triad presentation with the findings of polyostotic fibrous dysplasia, café-au-lait spots, and sexual precocity. However, not all patients present with complete symptoms...
  45. ncbi Albright's hereditary osteodystrophy
    Seema Kapoor
    Division of Genetics, Department of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital, New Delhi, India
    Indian J Pediatr 73:153-6. 2006
    ..We report here the variable inheritance of hormone resistance in the presence of characteristic phenotype and reduced Gs alpha activity in the same family...
  46. ncbi A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy
    Joachim Pohlenz
    Children s Hospital, Johannes Gutenberg University, Langenbeckstrasse 1, D 55101 Mainz, Germany
    Eur J Endocrinol 148:463-8. 2003
    ..To identify the molecular defect by which psychomotor retardation is caused in two brothers with congenital hypothyroidism who received adequate treatment with l-thyroxine...
  47. ncbi McCune-Albright syndrome in a boy may present with a monolateral macroorchidism as an early and isolated clinical manifestation
    Teresa Arrigo
    Department of Pediatrics, University of Messina, Messina, Italy
    Horm Res 65:114-9. 2006
    ..Testis enlargement in McCune-Albright syndrome (MAS) is generally bilateral and associated with clinical and biochemical manifestations of sexual precocity...
  48. ncbi [Somatic mosaicism in genetic diseases]
    Hidefumi Tonoki
    Department of Pediatrics, Medical Genetics Section, Tenshi Hospital, Caress Alliance Medical Corporation
    Nihon Rinsho 63:81-6. 2005
  49. ncbi Expression of FGF23 is correlated with serum phosphate level in isolated fibrous dysplasia
    Keisuke Kobayashi
    Department of Metabolism, Endocrinology and Molecular Medicine, Osaka City University Graduate School of Medicine, 1 4 3, Asahi machi, Abeno Ku, Osaka 545 8585, Japan
    Life Sci 78:2295-301. 2006
    ....
  50. pmc The role of type 1 and type 2 5'-deiodinase in the pathophysiology of the 3,5,3'-triiodothyronine toxicosis of McCune-Albright syndrome
    Francesco S Celi
    Clinical Endocrinology Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Clinical Research Center, room 6 3940, 10 Center Drive MSC 1613, Bethesda, MD 20892 1613, USA
    J Clin Endocrinol Metab 93:2383-9. 2008
    ..McCune-Albright syndrome (MAS) is caused by mutations in GNAS (most often R201C or R201H) leading to constitutive cAMP signaling and multiple endocrine dysfunctions, including morphological and functional thyroid involvement...
  51. ncbi Genetics of pseudohypoparathyroidism types Ia and Ic
    Micheala A Aldred
    Division of Medical Genetics, University of Leicester and Leicestershire Genetics Service, University Hospitals of Leicester NHS Trust, Leicester, UK
    J Pediatr Endocrinol Metab 19:635-40. 2006
    ..Screening for whole exon deletions and intronic or regulatory mutations in mutation-negative families is therefore now an important priority to establish the full mutational spectrum in these conditions...
  52. ncbi Determination of Gs alpha protein activity in Albright's hereditary osteodystrophy
    Wiebke Ahrens
    Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University Hospital Schleswig Holstein, Campus Lubeck, Germany
    J Pediatr Endocrinol Metab 19:647-51. 2006
    ..However, the mutation detection rate in GNAS is highly variable. The genetic heterogeneity of AHO needs further investigation...
  53. ncbi A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency
    Susanne Thiele
    Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University of Luebeck, Ratzeburger Allee 160, 23538 Luebeck, Germany
    J Clin Endocrinol Metab 92:1764-8. 2007
    ..Heterozygous inactivating maternally inherited mutations of GNAS lead to a phenotype in which Albright hereditary osteodystrophy is associated with pseudohypoparathyroidism type Ia...
  54. ncbi Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy
    Guiomar Perez de Nanclares
    Endocrinology and Diabetes Research Group, Hospital de Cruces, Cruces Barakaldo E48903 Bizkaia, Basque Country, Spain
    J Clin Endocrinol Metab 92:2370-3. 2007
    ....
  55. ncbi Mutations in the Gs alpha gene causing hormone resistance
    Giovanna Mantovani
    Endocrine Unit, Department of Medical Sciences, University of Milan, Fondazione Ospedale Maggiore, Policlinico, Mangiagalli e Regina Elena IRCCS, Via F Sforza, 35, 20122 Milan, Italy
    Best Pract Res Clin Endocrinol Metab 20:501-13. 2006
    ..This review will focus on inactivating mutations leading to hormone resistance syndromes, i.e., pseudohypoparathyroidism types Ia and Ib...
  56. ncbi Searching for somatic mutations in McCune-Albright syndrome: a comparative study of the peptidic nucleic acid versus the nested PCR method based on 148 DNA samples
    N Kalfa
    Unité d Endocrinologie Gynécologie Pédiatrique, Service de pédiatrie 1, Hopital Arnaud de Villeneuve, CHU Montpellier, 34295 Montpellier, France
    Eur J Endocrinol 155:839-43. 2006
    ..PNA clamping required 1.5 days and utilized the higher thermal stability and specificity of PNA-DNA coupling to inhibit PCR product formation. Direct sequencing was subsequently performed in all cases...
  57. ncbi Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome
    Rodolfo A Rey
    Centro de Investigaciones Endocrinologicas, Hospital de Niños R Gutiérrez, Buenos Aires, Argentina
    Hum Mol Genet 15:3538-43. 2006
    ..Lack of occurrence of the mutation in Leydig cells may explain why sexual precocity is rarely observed in boys with MAS...
  58. ncbi Patients with mutations in Gsalpha have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency
    Stephanie C Hsu
    Department of Pediatric Endocrinology, Johns Hopkins University, 733 North Broadway, Suite 551, Baltimore, Maryland 21205, USA
    J Clin Endocrinol Metab 92:3941-8. 2007
    ..The mechanism by which these mutations lead to the AHO phenotype has been difficult to establish due to the inaccessibility of the affected tissues...
  59. ncbi [GNAS1 gene abnormality in pseudohypoparathyroidism I a]
    Keiichi Ozono
    Osaka University Graduate School of Medicine, Department of Pediatrics, Japan
    Clin Calcium 17:1214-9. 2007
    ..PHP type I a is associated with Albright's osteodystrophy (AHO). Those patients who have AHO phenotype without hormone resistance are affected by pseudopseudohypoparathyroidism...
  60. ncbi Genetic diagnosis of multiple affected tissues in a patient with McCune-Albright syndrome
    Ji Zhou
    Department of Endocrinology and Metabolic Diseases, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, 197 Ruijin Er Road, Shanghai, 200025, China
    Endocrine 31:212-7. 2007
    McCune-Albright syndrome (MAS) is a sporadic disorder characterized by the classic triad of polyostotic fibrous dysplasia, café-au-lait' skin pigmentation, and hyperfunctional endocrinopathy...
  61. ncbi A boy with McCune-Albright syndrome associated with GH secreting pituitary microadenoma. Clinical findings and response to treatment
    Maria Papadopoulou
    3rd Department of Paediatrics, Aristotele University of Thessaloniki, Hippocration General Hospital, Thessaloniki, Greece
    Hormones (Athens) 5:205-9. 2006
    ..MAS is characterized by a triad of physical signs: café-au-lait spots, polyostotic fibrous dysplasia and autonomous endocrine hyperfunction...
  62. ncbi Albright's hereditary osteodystrophy
    Louise C Wilson
    Clinical and Molecular Genetics Unit, Great Ormond Street Hospital and Institute of Child Health, London, UK
    J Pediatr Endocrinol Metab 19:671-3. 2006
  63. ncbi McCune-Albright syndrome with acromegaly and fibrous dysplasia associated with the GNAS gene mutation identified by sensitive PNA-clamping method
    Mari Imanaka
    Division of Endocrinology Metabolism, Neurology, and Hematology Oncology, Department of Clinical Molecular Medicine, Kobe University Graduate School of Medicine, Kobe
    Intern Med 46:1577-83. 2007
    ..We performed a selective PCR with peptide nucleic acid (PNA) clamping to increase the sensitivity for gene mutation detection and identified the R201C GNAS mutation...
  64. ncbi GNAS mutation detection is related to disease severity in girls with McCune-Albright syndrome and precocious puberty
    Heather A Wagoner
    Department of Pediatrics, Division of Endocrinology, Children s Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh PA 15213 2524, USA
    Pediatr Endocrinol Rev 4:395-400. 2007
    ..e. in partial forms of MAS. The utility of using peripheral blood for mutation analysis in this setting has not been thoroughly evaluated...
  65. pmc Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification
    N S Adegbite
    Department of Orthopaedic Surgery, University of Pennsylvania, School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 146:1788-96. 2008
    ..g., POH) from the non-progressive forms (osteoma cutis, AHO, and PHP1a/c)...
  66. doi A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance
    Virginie Mariot
    Pediatric Endocrinology and Institut National de la Santé et de la Recherche Médicale U561, Hopital St Vincent de Paul, 82 avenue Denfert Rochereau, 75014 Paris V University, France
    J Clin Endocrinol Metab 93:661-5. 2008
    ..PHP type Ib (PHP-Ib), usually defined by isolated renal resistance to PTH and sometimes mild TSH resistance, is due to a maternal loss of GNAS exon A/B methylation, leading to decreased Galphas expression in specific tissues...
  67. ncbi [Pseudohypoparathyroidism]
    Toshiyuki Yasuda
    Department of Pediatrics, National Hospital Organization Chiba Medical Center
    Nihon Rinsho 63:352-6. 2005
  68. ncbi Premature thelarche and granulosa cell tumors: a search for FSH receptor and G5alpha activating mutations
    Tamara S Hannon
    Department of Pediatrics, James Whitcomb Riley Hospital for Children, Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis 46202, USA
    J Pediatr Endocrinol Metab 15:891-5. 2002
    ..In contrast, polymorphisms of the FSH receptor are common...
  69. ncbi Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene
    Maria Candida Barisson Villares Fragoso
    Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM 42, Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil 01060 970
    J Clin Endocrinol Metab 88:2147-51. 2003
    ....
  70. ncbi Paediatric management of endocrine complications in McCune-Albright syndrome
    Margaret Zacharin
    Department of Endocrinology and Diabetes, Royal Children s Hospital, Parkville, Victoria, Australia
    J Pediatr Endocrinol Metab 18:33-41. 2005
    ..5 years in a male, with a lower limb fracture and café-au-lait markings. Polyostotic fibrous dysplasia was treated with pamidronate for 4 years, with control of bone pain, improved quality of life, normal ..
  71. ncbi McCune-Albright syndrome: radiological and MR findings
    G Yongjing
    Department of Radiology, Ruijin Hospital, Shanghai 2nd Medical University, PR China
    JBR-BTR 84:250-2. 2001
    ..The syndrome is characterized with the triad of polyostotic fibrous dysplasia, pigmented skin lesions, endocrinopathy, and precocious puberty...
  72. ncbi Activating GNAS1 gene mutations in patients with premature thelarche
    Rossana Roman
    Institute of Maternal and Child Research, San Borja Arriaran Clinical Hospital, School of Medicine, University of Chile, Santiago, Chile
    J Pediatr 145:218-22. 2004
    ..To identify GNAS1 gene mutations in girls with exaggerated and/or chronic fluctuating thelarche for at least 1-year duration with no other signs of precocious puberty, skeletal dysplasia, or typical skin lesions of McCune-Albright syndrome...
  73. ncbi Parental origin of Gsalpha mutations in the McCune-Albright syndrome and in isolated endocrine tumors
    Giovanna Mantovani
    Institute of Endocrine Sciences, University of Milan, Ospedale Maggiore IRCCS, 20122 Milan, Italy
    J Clin Endocrinol Metab 89:3007-9. 2004
    ..These data confirm the importance of Gsalpha imprinting in the pituitary gland and point out the high degree of tissue specificity of this phenomenon...
  74. ncbi Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study
    Serge Lumbroso
    Service d Hormonologie, Hopital Lapeyronie, Centre Hospitalier Universitaire CHU de Montpellier and Institut National de la Santé et de la Recherche Médicale, Montpellier, France 34295
    J Clin Endocrinol Metab 89:2107-13. 2004
    McCune-Albright syndrome (MAS) is a sporadic disorder characterized by the classic triad of polyostotic fibrous dysplasia, café-au-lait skin pigmentation, and peripheral precocious puberty...
  75. pmc A novel technique based on a PNA hybridization probe and FRET principle for quantification of mutant genotype in fibrous dysplasia/McCune-Albright syndrome
    Abdullah Karadag
    Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892 4320, USA
    Nucleic Acids Res 32:e63. 2004
    ....
  76. ncbi GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance
    Agnes Linglart
    Department of Pediatric Endocrinology, Groupe Hospitalier Cochin Saint Vincent De Paul, Assisvance Publique Hôpitaux de Paris, 75014 Paris, France
    J Clin Endocrinol Metab 87:189-97. 2002
    ....
  77. ncbi Macroorchidism due to autonomous hyperfunction of Sertoli cells and G(s)alpha gene mutation: an unusual expression of McCune-Albright syndrome in a prepubertal boy
    R Coutant
    Departement de Pediatrie, Centre Hospitalier Universitaire, 49000 Angers, France
    J Clin Endocrinol Metab 86:1778-81. 2001
    ..This observation demonstrates the usefulness of detailed molecular and biological investigations in atypical cases of MAS...
  78. ncbi Precocious puberty: McCune-Albright syndrome and beyond
    Paul Saenger
    J Pediatr 143:9-10. 2003
  79. ncbi [Clinical and molecular study of Chilean patients with McCune-Albright syndrome]
    R Roman
    Instituto de Investigaciones Materno Infantil, Facultad de Medicina, Universidad de Chile, Hospital San Borja Arriaran, Luis Calvo Mackenna, Hospital Clínico P Universidad Católica, Santiago, Chile
    Rev Med Chil 129:1365-72. 2001
    McCune-Albright Syndrome (MAS) is characterized by precocious puberty, "cafe au lait" skin lesions and polyostotic fibrous dysplasia. It is caused by 4 post-zygotic mutations of G alpha s protein with a mosaic distribution.
  80. ncbi Searching for Arg201 mutations in the GNAS1 gene in Italian patients with McCune-Albright syndrome
    Luisa de Sanctis
    Department of Pediatrics, University of Torino, Regina Margherita Children s Hospital, Italy
    J Pediatr Endocrinol Metab 15:883-9. 2002
    ....
  81. ncbi Craniomaxillofacial fibrous dysplasia
    Cuneyt Ozek
    Plastic and Reconstructive Surgery Department, Ege University, Bornova Izmir, Turkey
    J Craniofac Surg 13:382-9. 2002
    ..Periodic follow-up is indicated to detect recurrences or malignant changes in the early stages...
  82. ncbi Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene
    Felix G Riepe
    Department of Pediatrics, Division of Pediatric Endocrinology, Universitatsklinikum Schleswig Holstein, Campus Kiel, Christian Albrechts Universitat, Germany
    Eur J Endocrinol 152:515-9. 2005
    ..To clarify the molecular defect for the clinical finding of congenital hypothyroidism combined with the manifestation of calcinosis cutis in infancy...
  83. ncbi Unilateral exophthalmos associated with severe fibrous dysplasia
    Claudia Kuhli
    Klinik fur Augenheilkunde, Klinikum der Johann Wolfgang Goethe Universitat, Frankfurt am Main, Deutschland
    Ophthalmologica 219:181-4. 2005
    ..Therefore the ophthalmologist plays an important role in the early diagnosis of fibrous dysplasia...
  84. ncbi Gs(alpha) mutations and imprinting defects in human disease
    Lee S Weinstein
    Metabolic Diseases Branch, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Ann N Y Acad Sci 968:173-97. 2002
    ..This GNAS1 imprinting defect is predicted to decrease Gs(alpha) expression in tissues where Gs(alpha) is normally imprinted and therefore to lead to renal parathyroid hormone resistance...
  85. ncbi Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1
    Livia Garavelli
    Department of Pediatrics, S Maria Nuova Hospital, Reggio Emilia, Italy
    Acta Biomed 76:45-8. 2005
    ..This analysis revealed a novel mutation of GNAS 1, resulting in the nonsense mutation of exon 13 (CAG-->TAG, codon 384). This result expands the spectrum of GNAS1 mutations associated with this disorder...
  86. ncbi Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy
    Micheala A Aldred
    Division of Medical Genetics, University of Leicester, and Department of Molecular Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK
    Am J Med Genet 113:167-72. 2002
    ..Parental origin could be determined in both cases and provides further support for the parent-of-origin effect on the biochemical status of patients with AHO...
  87. ncbi Albright's hereditary osteodystrophy and pseudohypoparathyroidism
    Louise C Wilson
    Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital, London, UK
    Semin Musculoskelet Radiol 6:273-83. 2002
    ..The causes of PHP type Ic and PHP type II are not yet clear, and the latter is likely to be heterogeneous...
  88. ncbi Late diagnosed polyostotic fibrous dysplasia. Bone scan, radiography and magnetic resonance imaging findings
    Javad Esmaili
    Department of Nuclear Medicine, Emam Khomeini General Hospital, Tehran University of Medical Sciences, Tehran, Iran
    Hell J Nucl Med 13:65-6. 2010
    ..This type may be asymptomatic and diagnosed incidentally while the polyostotic fibrous dysplasia (PFD) is often more severe...
  89. ncbi Rare syndromes
    Serge A Jabbour
    Division of Endocrinology, Diabetes and Metabolic Diseases, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Clin Dermatol 24:299-316. 2006
    ..McCune-Albright syndrome is characterized by café-au-lait spots, polyostotic fibrous dysplasia, sexual precocity, and hyperfunction of multiple endocrine glands...
  90. pmc MR and CT findings of cyst degeneration of sphenoid bone in McCune-Albright syndrome: a case report
    Ping Li
    Department of Radiology, The Second Affiliated Hospital, Harbin Medical University, 246 Xue Fu Road, Harbin, Heilongjiang, 150086, China
    Cases J 2:9376. 2009
    ..syndrome (MAS) is a rare disorder characterized by the classic triad of precocious puberty, polyostotic fibrous dysplasia and café-au-lait pigmented skin lesions...
  91. ncbi Magnetic resonance imaging of benign bone lesions: cysts and tumors
    E Michel Azouz
    Department of Radiology R 109, Jackson Memorial Medical Center, PO Box 016960, University of Miami, Miami, FL 33101, USA
    Top Magn Reson Imaging 13:219-29. 2002
    ..Bone scanning is most useful for depicting multiple silent lesions as may be seen in multiple osteochondromatosis, nonossifying fibromas, and polyostotic fibrous dysplasia.
  92. ncbi [Surgical reconstruction of fibrous dysplasia of bone in long-term follow-up]
    N Lindner
    Klinik und Poliklinik für Allgemeine Orthopädie, Westfälischen Wilhelms Universität Münster
    Z Orthop Ihre Grenzgeb 138:152-8. 2000
    ..To examine how different operative measures influence the surgical outcome in patients with fibrous dysplasia of bone...
  93. ncbi Metachronous and multiple aneurysmal bone cysts: a rare variant of primary aneurysmal bone cysts
    Stefanie Scheil-Bertram
    Institute of Pathology, University of Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
    Virchows Arch 444:293-9. 2004
    ..we excluded the missense mutation of codon 201 in guanine nucleotide-binding protein 1 gene consistently found in McCune-Albright syndrome (MAS) and in non-MAS cases of polyostotic fibrous dysplasia of bone with or without secondary ABC.
  94. ncbi Fibrous dysplasia of the temporal bone complicated by cholesteatoma and thrombophlebitis of the transverse and sigmoid sinuses: a case report
    Rodrigo Martinez
    Farrior Ear Clinic, Tampa, Fla, USA
    Ear Nose Throat J 87:81-5. 2008
    ..We present the case of a boy with polyostotic fibrous dysplasia with involvement of the temporal bone that was first diagnosed when he was 9 years old...
  95. ncbi Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia
    G A Candeliere
    Genetics Unit, Shriners Hospital, Montreal, QC, Canada
    N Engl J Med 332:1546-51. 1995
    ....
  96. ncbi [Identification of serum alkaline phosphatase from human bone]
    T Shinozaki
    Department of Orthopaedic Surgery, Gunma University School of Medicine, Japan
    Nihon Seikeigeka Gakkai Zasshi 64:50-5. 1990
    ..staining for alkaline phosphatase was accomplished using sera from patients with osteosarcoma, polyostotic fibrous dysplasia, metastatic bone tumor, and idiopathic hyper-alkalinephosphatasemia...
  97. pmc Fibrous dysplasia of the cranial bones: a case report and review of the literature
    Pervin K Iseri
    Department of Neurology, University of Kocaeli, Derince, Izmit, Turkey
    Yale J Biol Med 78:141-5. 2005
    ..We report a case of polyostotic fibrous dysplasia with progressive occipital, temporal, and clival involvement...
  98. doi Upper lip bite test in a patient with McCune Albright syndrome with acromegaly
    Chandrashish Chakravarty
    Department of Neuroanesthesiology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India
    J Clin Neurosci 17:258-9. 2010
    ..Our patient, a 33-year-old woman, had a history of polyostotic fibrous dysplasia. Tracheal intubation was performed under general anaesthesia...
  99. doi Whole-body MR imaging for the evaluation of McCune-albright syndrome
    Elisa C Ferreira
    Departament of Radiology, Federal University of Rio de Janeiro School of Medicine, Rio de Janeiro, Brazil
    J Magn Reson Imaging 31:706-10. 2010
    ..The skeletal radiographs showed multiple bone lesions which were suggestive of polyostotic fibrous dysplasia. These findings were sufficient to establish the diagnosis of McCune-Albright syndrome...
  100. ncbi Extra-abdominal desmoid fibromatosis: two familial cases with synchronous and metachronous multicentric hyalinizing nodules
    K Watanabe
    Pathology Division and Department of Orthopaedics, Fukshima Medical University School of Medicine Hospital, Fukshima City, Japan
    Histopathology 41:118-21. 2002
    ..Extra-abdominal desmoid fibromatosis is an uncommon tumour. We present here two exceptional familial cases of extra-abdominal desmoid fibromatosis, one of which was synchronous and metachronous...
  101. ncbi Fibrous dysplasia localized to spine: a diagnostic dilemma
    Nidhi Gogia
    Department of Radiology, All India Institute of Medical Sciences, New Delhi, India
    Skeletal Radiol 36:S19-23. 2007
    ..Isolated vertebral involvement in polyostotic form is very rare. We report a case of polyostotic fibrous dysplasia with lesions localized to dorso-lumbar spine in a 45-year-old rheumatoid arthritis patient...

Research Grants39

  1. Characterization of Familial Myopathy & Paget Disease
    Virginia Kimonis; Fiscal Year: 2004
    ..and molecular characterization of a large family from Canada (appendix 10) diagnosed with myopathy and polyostotic fibrous dysplasia and fractures...
  2. Characterization of Familial Myopathy & Paget Disease
    Virginia Kimonis; Fiscal Year: 2005
    ..and molecular characterization of a large family from Canada (appendix 10) diagnosed with myopathy and polyostotic fibrous dysplasia and fractures...
  3. Characterization of Familial Myopathy & Paget Disease
    Virginia Kimonis; Fiscal Year: 2003
    ..and molecular characterization of a large family from Canada (appendix 10) diagnosed with myopathy and polyostotic fibrous dysplasia and fractures...
  4. Regulatory Kinases in BMP-mediated hMSC Osteogenesis
    SUNDAY AKINTOYE; Fiscal Year: 2006
    ..Our long-term goal is to develop clinically improved bone therapies with BMPs and human MSC. [unreadable] [unreadable]..
  5. Molecular Mechanisms of Ectopic Bone Formation
    STEVEN LIETMAN; Fiscal Year: 2006
    ..abstract_text> ..
  6. Treatment of Osteoradionecrosis with Bone Marrow Stromal Cells
    SUNDAY AKINTOYE; Fiscal Year: 2007
    ..These data will provide substantial new insights. Dr. Akintoye's long term goal is to ultimately translate these into human clinical protocols to treat patients with osteoradionecrosis. ..
  7. Treatment of Osteoradionecrosis with Bone Marrow Stromal Cells
    SUNDAY AKINTOYE; Fiscal Year: 2008
    ..These data will provide substantial new insights. Dr. Akintoye's long term goal is to ultimately translate these into human clinical protocols to treat patients with osteoradionecrosis. ..
  8. Molecular Mechanisms in Bone Resorption
    STEVEN LIETMAN; Fiscal Year: 2008
    ..New information about mechanisms of bone resorption may facilitate the development of novel strategies to decrease bone resorption and may lead to new treatments for osteoporosis. ..
  9. Molecular Mechanisms in Bone Resorption
    STEVEN LIETMAN; Fiscal Year: 2009
    ..New information about mechanisms of bone resorption may facilitate the development of novel strategies to decrease bone resorption and may lead to new treatments for osteoporosis. ..
  10. Molecular Mechanisms in Bone Resorption
    Steven A Lietman; Fiscal Year: 2010
    ..New information about mechanisms of bone resorption may facilitate the development of novel strategies to decrease bone resorption and may lead to new treatments for osteoporosis. ..
  11. Molecular Mechanisms in Bone Resorption
    STEVEN LIETMAN; Fiscal Year: 2009
    ..New information about mechanisms of bone resorption may facilitate the development of novel strategies to decrease bone resorption and may lead to new treatments for osteoporosis. ..
  12. MOLECULAR GENETICS OF PROGRESSIVE OSSEOUS HETEROPLASIA
    EILEEN SHORE; Fiscal Year: 2005
    ..These investigations will provide important information for developing diagnostic and treatment strategies for a wide range of disorders of bone such as POH and more common conditions. ..
  13. Treatment of Crohn's Disease with Growth Hormone
    Tamara Hannon; Fiscal Year: 2005
    ....
  14. Treatment of Crohn's Disease with Growth Hormone
    Tamara Hannon; Fiscal Year: 2006
    ....
  15. MOLECULAR GENETICS OF PROGRESSIVE OSSEOUS HETEROPLASIA
    EILEEN SHORE; Fiscal Year: 2006
    ..These investigations will provide important information for developing diagnostic and treatment strategies for a wide range of disorders of bone such as POH and more common conditions. ..
  16. MOLECULAR GENETICS OF PROGRESSIVE OSSEOUS HETEROPLASIA
    EILEEN SHORE; Fiscal Year: 2007
    ..These investigations will provide important information for developing diagnostic and treatment strategies for a wide range of disorders of bone such as POH and more common conditions. ..
  17. MOLECULAR GENETICS OF PROGRESSIVE OSSEOUS HETEROPLASIA
    EILEEN SHORE; Fiscal Year: 2008
    ..These investigations will provide important information for developing diagnostic and treatment strategies for a wide range of disorders of bone such as POH and more common conditions. ..
  18. Germline and Somatic Genetic Changes in Pulmonary Arterial Hypertension
    MICHEALA ANN ALDRED; Fiscal Year: 2010
    ..The long term aims are to better understand what causes pulmonary hypertension and who is most at risk, in order to refine therapeutic interventions and work towards prevention of the disease. ..
  19. MOLECULAR GENETICS OF PROGRESSIVE OSSEOUS HETEROPLASIA
    EILEEN SHORE; Fiscal Year: 2004
    ..These investigations will provide important information for developing diagnostic and treatment strategies for a wide range of disorders of bone such as POH and more common conditions. ..
  20. Role of G-protein signaling in CFTR function
    Stephanie Hsu; Fiscal Year: 2004
    ..Cyclic AMP assays, RNA expression levels, and 3 clinical tests of CFTR function will be evaluated on nasal epithelia from patients. ..
  21. Treatment of Crohn's Disease with Growth Hormone
    Tamara Hannon; Fiscal Year: 2004
    ....
  22. METABOLISM IN NORMAL AND OSTEOARTHRITIC CARTILAGE
    Henry Mankin; Fiscal Year: 1999
    ..It is further speculated that the study of serine proteinases produced by OA cartilage may have strong implications for the management of this debilitating disease. ..
  23. METABOLISM IN NORMAL AND OSTEOARTHRITIC CARTILAGE
    Henry Mankin; Fiscal Year: 1991
    ..The receptors for this cytokine on normal and OA chondrocytes will be quantitated. Further definition of these cartilage metabolic pathways are of primary importance in our understanding of osteoarthritis...
  24. MENTORED PATIENT ORIENTED RESEARCH CAREER DEVELOPMENT AW
    Linda DiMeglio; Fiscal Year: 2000
    ..We will characterize the changes effected by oral bisphosphonate therapy and compare them to a regimen of intravenous bisphosphonate therapy in a group of children with OI. ..
  25. MOLECULAR GENETICS OF PROGRESSIVE OSSEOUS HETEROPLASIA
    EILEEN SHORE; Fiscal Year: 2000
    ..Accomplishment of these Specific Aims will provide the foundation for future work that will examine the pathways through which GNAS1 expression leads to regulation of normal and ectopic bone formation. ..
  26. METABOLISM IN NORMAL AND OSTEOARTHRITIC CARTILAGE
    Henry Mankin; Fiscal Year: 2000
    ..It is further speculated that the study of serine proteinases produced by OA cartilage may have strong implications for the management of this debilitating disease. ..
  27. METABOLISM IN NORMAL AND OSTEOARTHRITIC CARTILAGE
    Henry Mankin; Fiscal Year: 2001
    ..It is further speculated that the study of serine proteinases produced by OA cartilage may have strong implications for the management of this debilitating disease. ..
  28. MOLECULAR GENETICS OF PROGRESSIVE OSSEOUS HETEROPLASIA
    EILEEN SHORE; Fiscal Year: 2001
    ..Accomplishment of these Specific Aims will provide the foundation for future work that will examine the pathways through which GNAS1 expression leads to regulation of normal and ectopic bone formation. ..
  29. MENTORED PATIENT ORIENTED RESEARCH CAREER DEVELOPMENT AW
    Linda DiMeglio; Fiscal Year: 2001
    ..We will characterize the changes effected by oral bisphosphonate therapy and compare them to a regimen of intravenous bisphosphonate therapy in a group of children with OI. ..
  30. Treatment of Crohn's Disease with Growth Hormone
    Tamara Hannon; Fiscal Year: 2002
    ....
  31. MOLECULAR GENETICS OF PROGRESSIVE OSSEOUS HETEROPLASIA
    EILEEN SHORE; Fiscal Year: 2002
    ..Accomplishment of these Specific Aims will provide the foundation for future work that will examine the pathways through which GNAS1 expression leads to regulation of normal and ectopic bone formation. ..
  32. MENTORED PATIENT ORIENTED RESEARCH CAREER DEVELOPMENT AW
    Linda DiMeglio; Fiscal Year: 2002
    ..We will characterize the changes effected by oral bisphosphonate therapy and compare them to a regimen of intravenous bisphosphonate therapy in a group of children with OI. ..
  33. Treatment of Crohn's Disease with Growth Hormone
    Tamara Hannon; Fiscal Year: 2003
    ....
  34. MENTORED PATIENT ORIENTED RESEARCH CAREER DEVELOPMENT AW
    Linda DiMeglio; Fiscal Year: 2003
    ..We will characterize the changes effected by oral bisphosphonate therapy and compare them to a regimen of intravenous bisphosphonate therapy in a group of children with OI. ..
  35. MENTORED PATIENT ORIENTED RESEARCH CAREER DEVELOPMENT AW
    Linda DiMeglio; Fiscal Year: 2004
    ..We will characterize the changes effected by oral bisphosphonate therapy and compare them to a regimen of intravenous bisphosphonate therapy in a group of children with OI. ..
  36. MOLECULAR GENETICS OF PROGRESSIVE OSSEOUS HETEROPLASIA
    EILEEN SHORE; Fiscal Year: 2009
    ..These investigations will provide important information for developing diagnostic and treatment strategies for a wide range of disorders of bone such as POH and more common conditions. ..