Genomes and Genes
polyostotic fibrous dysplasia
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)
Publications148 found, 100 shown here
- A case of McCune-Albright syndrome with associated multiple endocrinopathiesSang 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 ..
- [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.
- Activating mutations of the stimulatory G protein in the McCune-Albright syndromeL 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. 1991The McCune-Albright syndrome is a sporadic disease characterized by polyostotic fibrous dysplasia, café au lait spots, sexual precocity, and hyperfunction of multiple endocrine glands...
- Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndromeW 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. 1992McCune-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 ..
- Effect of pamidronate treatment in children with polyostotic fibrous dysplasia of boneHoracio 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...
- Misdiagnosis of multiple bone metastases due to increased FDG uptake in polyostotic fibrous dysplasiaChia Hung Kao
Department of Nuclear Medicine and PET Center, China Medical University Hospital, Taichung, Taiwan
Clin Nucl Med 32:409-10. 2007
- Symptomatic polyostotic fibrous dysplasia of the thoracic spineMehmet 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. 2006We present a case of polyostotic fibrous dysplasia with limited involvement in thoracic spine and adjacent ribs...
- McCune-Albright syndrome: growth hormone dynamics in pregnancyK Obuobie
Department of Medicine, University of Wales College of Medicine, Cardiff, United Kingdom
J Clin Endocrinol Metab 86:2456-8. 2001....
- Epidermal nevus syndrome associated with polyostotic fibrous dysplasia, CNS lipoma, and aplasia cutisMiguel 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...
- Pamidronate treatment of polyostotic fibrous dysplasia: failure to prevent expansion of dysplastic lesions during childhoodBrendan 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)...
- McCune-Albright syndrome and acromegaly: effects of hypothalamopituitary radiotherapy and/or pegvisomant in somatostatin analog-resistant patientsFrancoise 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...
- Hypophosphatemic rickets and osteomalacia in polyostotic fibrous dysplasiaArijit Chattopadhyay
Department of Endocrinology, PGIMER, Chandigarh, India
J Pediatr Endocrinol Metab 16:893-6. 2003A 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...
- Tamoxifen treatment for precocious puberty in McCune-Albright syndrome: a multicenter trialErica 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)...
- Osteomalacic and hyperparathyroid changes in fibrous dysplasia of bone: core biopsy studies and clinical correlationsAlessandro 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...
- 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...
- Letrozole treatment of precocious puberty in girls with the McCune-Albright syndrome: a pilot studyPenelope 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...
- Characterization of gsp-mediated growth hormone excess in the context of McCune-Albright syndromeSunday 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...
- Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutationsMichael 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. 2003McCune-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 ..
- McCune-Albright syndrome in adulthoodPhilippe 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...
- CT and MRI in the evaluation of craniospinal involvement with polyostotic fibrous dysplasia in McCune-Albright syndromeNail 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...
- Craniofacial polyostotic fibrous dysplasia: a case report and review of the literatureAhmad 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...
- Normal vision despite narrowing of the optic canal in fibrous dysplasiaJanice 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...
- Image diagnosis in McCune-Albright syndromeClaudio Defilippi
Radiology Department, Regina Margherita Children s Hospital, Turin, Italy
J Pediatr Endocrinol Metab 19:561-70. 2006McCune-Albright syndrome consists of polyostotic fibrous dysplasia, precocious puberty and cafè-au-lait skin lesions...
- Bone mineralization in polyostotic fibrous dysplasia: histomorphometric analysisLeonieke 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...
- Fibrous dysplasia in the spine: prevalence of lesions and association with scoliosisArabella 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...
- Clinical implications of genetic defects in G proteins: oncogenic mutations in G alpha s as the molecular basis for the McCune-Albright syndromeM A Levine
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
Arch Med Res 30:522-31. 1999....
- Oral alendronate treatment for polyostotic fibrous dysplasia: a case reportYasuyuki 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 ..
- McCune-Albright syndrome and disorders due to activating mutations of GNAS1Alejandro 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...
- Fracture incidence in polyostotic fibrous dysplasia and the McCune-Albright syndromeArabella 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. 2004In patients with polyostotic fibrous dysplasia of bone, the peak incidence of fractures is during the first decade of life, followed by a decrease thereafter...
- C2/C3 pathologic fractures from polyostotic fibrous dysplasia of the cervical spine treated with percutaneous vertebroplastyDavid 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...
- Renal phosphate wasting in fibrous dysplasia of bone is part of a generalized renal tubular dysfunction similar to that seen in tumor-induced osteomalaciaM 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)...
- Thyroid disease in patients with McCune-Albright syndromeValentina 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...
- Pegvisomant for the treatment of gsp-mediated growth hormone excess in patients with McCune-Albright syndromeSunday 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...
- 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.
- [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. 2009b>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...
- McCune-Albright syndromeClaudia 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...
- Pseudohypoparathyroidism: history of the diseaseLuisa de Sanctis
Department of Pediatric Sciences, University of Torino, Italy
J Pediatr Endocrinol Metab 19:627-33. 2006
- Gs alpha-related precocious puberty in females: focus on treatmentTamara 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
- Laparoscopic management of ovarian cysts in peripheral precocious puberty of McCune-Albright syndromeRoberto 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...
- Regulation of spermatogenesis in McCune-Albright syndrome: lessons from a 15-year follow-upFilippo 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...
- McCune-Albright syndrome: clinical picture and natural history in children and adolescentsThomas 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. 2006The 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...
- G(s)alpha mutations in fibrous dysplasia and McCune-Albright syndromeLee 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)...
- [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. 2006The McCune-Albright syndrome is characterised by polyostotic fibrous dysplasia, "cafe-au-lait" spots and autonomous hyperfunction of various endocrine organs...
- A case of McCune-Albright syndrome associated with Gs alpha mutation in the bone tissueHaluk 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...
- Albright's hereditary osteodystrophySeema 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...
- A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophyJoachim 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...
- McCune-Albright syndrome in a boy may present with a monolateral macroorchidism as an early and isolated clinical manifestationTeresa 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...
- [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
- Expression of FGF23 is correlated with serum phosphate level in isolated fibrous dysplasiaKeisuke 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....
- The role of type 1 and type 2 5'-deiodinase in the pathophysiology of the 3,5,3'-triiodothyronine toxicosis of McCune-Albright syndromeFrancesco 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...
- Genetics of pseudohypoparathyroidism types Ia and IcMicheala 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...
- Determination of Gs alpha protein activity in Albright's hereditary osteodystrophyWiebke 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...
- A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiencySusanne 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...
- Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophyGuiomar 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....
- Mutations in the Gs alpha gene causing hormone resistanceGiovanna 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...
- 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 samplesN 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...
- Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndromeRodolfo 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...
- Patients with mutations in Gsalpha have reduced activation of a downstream target in epithelial tissues due to haploinsufficiencyStephanie 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...
- [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...
- Genetic diagnosis of multiple affected tissues in a patient with McCune-Albright syndromeJi 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. 2007McCune-Albright syndrome (MAS) is a sporadic disorder characterized by the classic triad of polyostotic fibrous dysplasia, café-au-lait' skin pigmentation, and hyperfunctional endocrinopathy...
- A boy with McCune-Albright syndrome associated with GH secreting pituitary microadenoma. Clinical findings and response to treatmentMaria 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...
- Albright's hereditary osteodystrophyLouise 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
- McCune-Albright syndrome with acromegaly and fibrous dysplasia associated with the GNAS gene mutation identified by sensitive PNA-clamping methodMari 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...
- GNAS mutation detection is related to disease severity in girls with McCune-Albright syndrome and precocious pubertyHeather 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...
- Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossificationN 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)...
- A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistanceVirginie 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...
- [Pseudohypoparathyroidism]Toshiyuki Yasuda
Department of Pediatrics, National Hospital Organization Chiba Medical Center
Nihon Rinsho 63:352-6. 2005
- Premature thelarche and granulosa cell tumors: a search for FSH receptor and G5alpha activating mutationsTamara 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...
- Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 geneMaria 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....
- Paediatric management of endocrine complications in McCune-Albright syndromeMargaret 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 ..
- McCune-Albright syndrome: radiological and MR findingsG 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...
- Activating GNAS1 gene mutations in patients with premature thelarcheRossana 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...
- Parental origin of Gsalpha mutations in the McCune-Albright syndrome and in isolated endocrine tumorsGiovanna 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...
- Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative StudySerge 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. 2004McCune-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...
- A novel technique based on a PNA hybridization probe and FRET principle for quantification of mutant genotype in fibrous dysplasia/McCune-Albright syndromeAbdullah 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....
- GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistanceAgnes 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....
- Macroorchidism due to autonomous hyperfunction of Sertoli cells and G(s)alpha gene mutation: an unusual expression of McCune-Albright syndrome in a prepubertal boyR 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...
- Precocious puberty: McCune-Albright syndrome and beyondPaul Saenger
J Pediatr 143:9-10. 2003
- [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. 2001McCune-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.
- Searching for Arg201 mutations in the GNAS1 gene in Italian patients with McCune-Albright syndromeLuisa de Sanctis
Department of Pediatrics, University of Torino, Regina Margherita Children s Hospital, Italy
J Pediatr Endocrinol Metab 15:883-9. 2002....
- Craniomaxillofacial fibrous dysplasiaCuneyt 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...
- Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS geneFelix 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...
- Unilateral exophthalmos associated with severe fibrous dysplasiaClaudia 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...
- Gs(alpha) mutations and imprinting defects in human diseaseLee 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...
- Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1Livia 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...
- Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophyMicheala 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...
- Albright's hereditary osteodystrophy and pseudohypoparathyroidismLouise 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...
- Late diagnosed polyostotic fibrous dysplasia. Bone scan, radiography and magnetic resonance imaging findingsJavad 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...
- Rare syndromesSerge 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...
- MR and CT findings of cyst degeneration of sphenoid bone in McCune-Albright syndrome: a case reportPing 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...
- Magnetic resonance imaging of benign bone lesions: cysts and tumorsE 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.
- [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...
- Metachronous and multiple aneurysmal bone cysts: a rare variant of primary aneurysmal bone cystsStefanie 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.
- Fibrous dysplasia of the temporal bone complicated by cholesteatoma and thrombophlebitis of the transverse and sigmoid sinuses: a case reportRodrigo 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...
- Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasiaG A Candeliere
Genetics Unit, Shriners Hospital, Montreal, QC, Canada
N Engl J Med 332:1546-51. 1995....
- [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...
- Fibrous dysplasia of the cranial bones: a case report and review of the literaturePervin 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...
- Upper lip bite test in a patient with McCune Albright syndrome with acromegalyChandrashish 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...
- Whole-body MR imaging for the evaluation of McCune-albright syndromeElisa 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...
- Extra-abdominal desmoid fibromatosis: two familial cases with synchronous and metachronous multicentric hyalinizing nodulesK 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...
- Fibrous dysplasia localized to spine: a diagnostic dilemmaNidhi 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...
- Characterization of Familial Myopathy & Paget DiseaseVirginia Kimonis; Fiscal Year: 2005..and molecular characterization of a large family from Canada (appendix 10) diagnosed with myopathy and polyostotic fibrous dysplasia and fractures...
- Regulatory Kinases in BMP-mediated hMSC OsteogenesisSUNDAY AKINTOYE; Fiscal Year: 2006..Our long-term goal is to develop clinically improved bone therapies with BMPs and human MSC. ..
- Molecular Mechanisms of Ectopic Bone FormationSTEVEN LIETMAN; Fiscal Year: 2006..abstract_text> ..
- Treatment of Osteoradionecrosis with Bone Marrow Stromal CellsSUNDAY 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. ..
- Molecular Mechanisms in Bone ResorptionSTEVEN 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. ..
- Molecular Mechanisms in Bone ResorptionSteven 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. ..
- Treatment of Crohn's Disease with Growth HormoneTamara Hannon; Fiscal Year: 2006....
- Germline and Somatic Genetic Changes in Pulmonary Arterial HypertensionMICHEALA 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. ..
- Role of G-protein signaling in CFTR functionStephanie 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. ..
- METABOLISM IN NORMAL AND OSTEOARTHRITIC CARTILAGEHenry 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...
- METABOLISM IN NORMAL AND OSTEOARTHRITIC CARTILAGEHenry 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. ..
- MOLECULAR GENETICS OF PROGRESSIVE OSSEOUS HETEROPLASIAEILEEN 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. ..
- MENTORED PATIENT ORIENTED RESEARCH CAREER DEVELOPMENT AWLinda 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. ..
- MOLECULAR GENETICS OF PROGRESSIVE OSSEOUS HETEROPLASIAEILEEN 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. ..