Albright F, Butler AM, Hampton AO, Smith P (1937): Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females: report of five cases. New Eng J Med 216:727-746

Al-Tawil KI, Ahmed GS, Al-Hathal MM, Al-Zuwad MA (1998): Sporadic congenital infantile cortical hyperostosis (Caffey's disease). Am J Perinatol 15:629-633

Andrew LJ, Brancolini V, de la Pena LS, Devoto M, Caeiro F, Marchegiani R, Reginato A, Gaucher A, Netter P, Gillet P, Loeuille D, Prockop DJ, Carr A, Wordsworth BF, Lathrop M, Butcher S, Considine E, Everts K, Nicod A, Walsh S, Williams CJ (1999): Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. Am J Hum Genet 64:136-145

Baldwin CT, Farrer LA, Adair R, Dharmavaran R, Jimenez, S, Anderson L (1995): Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q. Am J Hum Genet 56: 692-697

Barba WP, Freriks DJ (1953): The familial occurence of infantile cortical hyperostosis in utero. J Pediat 42:141-150

Beighton P (1995): Craniometaphyseal dysplasia (CMD), autosomal dominant form. J Med Genet 32:370-374

Beighton P, Hamersma H (1980): The orthopaedic implications of the sclerosing bone dysplasias. S Afr Med J 58:600-604

Beighton P, Hamersma H, Horan F (1979): Craniometaphyseal dysplasia - variability of expression within a large family. Clin Genet 15:252-258

Beluffi G, Chirico G, Colombo A, Ceciliani L, dell'Orbo C, Fiori P, Pazzaglia U, Quacci D (1984): Report of a new case of neonatal cortical hyperostosis. Histological and ultrastructural study. Ann Radiol (Paris) 27:79-88

Bercau G, Gonzalez M, Afriat R, Lecolier B, de Kermadec S (1991): The difficulty of diagnosing Caffey's disease in utero. Apropos of a case simulating lethal osteogenesis imperfecta. Ann Pediat (Paris) 38:15-18

Bianco P, Kuznetsov SA, Riminucci M, Fisher LW, Spiegel AM, Robey PG (1998): Reproduction of human fibrous dysplasia of bone in immunocompromised mice by transplanted mosaics of normal and Gsalpha-mutated skeletal progenitor cells. J Clin Invest 101:1737-1744

Boltshauser E, Schmitt B, Wichmann W, Valavanis A, Sailer H, Yonekawa Y (1996): Cerebellomedullary compression in recessive craniometaphyseal dysplasia. Neuroradiology 38:193-195

Borochowitz Z, Gozal D, Misselevitch I, Aunallah J, Boss JH (1991): Familial Caffey's disease and late recurrence in a child. Clin Genet 40:329-335

Braun, HS, Nürnberg P, Tinschert S (2001):Metaphyseal dysplasia - a new autosomal dominant type in a large German kindred. Am J Med Genet 101:74-77

Caffey J, Silverman W (1945): Infantile cortical hyperostoses; preliminary report on a new syndrome. Am J Roentgenol & Rad Therapy 54:1-16

[Seite 37↓]

Candeliere GA, Glorieux FH, Prud’homme J, St.-Arnaud R (1995): Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia. N Engl J Med 332:1546-1551

Carnevale A, Grether P, del Castillo V, Takenaga R, Orzechowski A (1983): Autosomal dominant craniometaphyseal dysplasia. Clinical variability. Clin Genet 23:17-22

Cavanah SF, Dons RF (1993): McCune-Albright syndrome: how many endocrinopathies can one patient have? South Med J 86:364-367

Chandler D, Tinschert S, Lohan K, Harrop K, Goldblatt J, Nagy M, Hummel S, Braun HS, Laing N, Nürnberg P (2001): Refinement of the chromosome 5p locus for craniometaphyseal dysplasia. Hum Genet 108:394-397

Clemett AR, Williams JH (1963): The familial occurrence of infantile cortical hyperostosis. Radiology 80:409-416

Colavita N, Kozlowski K, Sprague P (1988): Cranio-metaphyseal dysplasia. (Report of 3 cases - two infants and one adult). Australas Radiol 32:257-262

Dahlstrom JE, Arbuckle SM, Kozlowski K, Peek MJ, Thomson M, Reynolds GJ, Sillence DO (2001): Lethal prenatal onset infantile cortical hyperostosis (Caffey disease). Pathology 33:521-552

de Jong G, Muller LMM (1995): Perinatal death in two sibs with infantile cortical hyperostosis (Caffey disease). Am J Med Genet 59:134-138

Deng HW, Xu FH, Huang QY, Shen H, Deng H, Conway T, Liu YJ, Liu YZ, Li JL, Zhang HT, Davies KM, Recker RR (2002): A whole-genome linkage scan suggests several genomic regions potentially containing quantitative trait Loci for osteoporosis. J Clin Endocrinol Metab 87:5151-5159

Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J (1996): A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154

Dornan JC, Ritchie JW, Meban C (1984): Fetal breathing movements and lung maturation in the congenitally abnormal human fetus. J Dev Physiol 6:367-375

Drinkwater BM, Crino JP, Garcia J, Ogburn J, Hecht JT (1997): Recurrent severe infantile cortical hyperostosis (Caffey disease) in siblings. Prenat Diagn 17:773-776

Ducy P, Schinke T, Karsenty G (2000): The osteoblast: a sophisticated fibroblast under central surveillance. Science 289:1501-1504

Elcioglu N, Hall CM (1998): Temporal aspects in craniometaphyseal dysplasia: autosomal recessive type. Am J Med Genet 76:245-251

Feld H, Switzer RA, Dexter MW, Langer EM (1955): Familial metaphyseal dysplasia. Radiology 65:206-212

Feinstein E, Druck T, Kastury K, Berissi H, Goodart SA, Overhauser J, Kimchi A, Huebner K (1995): Assignment of DAP1 and DAPK--genes that positively mediate programmed cell death triggered by IFN-gamma--to chromosome regions 5p12.2 and 9q34.1, respectively. Genomics 29:305-307

Fleisch H (1981): Diphosphonates: History and mechanisms of action. Metab Bone Dis Relat Res 3:279-288

[Seite 38↓]

Fleisch H, Russell RG, Francis MD (1969): Diphosphonates inhibit hydroxyapatite dissolution in vitro and bone resorption in tissue culture and in vivo. Science 165:1262-1264

Franz DC, Horn KL, Aase J (1996): Craniometaphyseal dysplasia: operative findings and treatment. Am J Otol 17:283-287

Fraser WD, Walsh CA, Birch MA, Durham B, Dillon JP, McGreavy D, Gallagher JA (2000): Parathyroid hormone-related protein in the aetiology of fibrous dysplasia of bone in the McCune Albright syndrome. Clin Endocrinol (Oxford) 53:621–628

Freyschmidt J (2001): Melorheostosis: a review of 23 cases. Eur Radiol 11: 474-479

Fried K, Krause J (1972 ): Die metaphysäre Dysplasie – Pyle’s disease. Fortschr Röntgenstr 116:224-228

Fried K, Manor A, Pajewski M, Starinsky R, Vure E (1981): Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis). Clin Genet 19:271-274

Fries, JW (1957): The roentgen features of fibrous dysplasia of the skull and facial bones. A critical analysis of thirty nine pathologically proved cases. Am J Roentgenol 77:71-88

Fryns JP (1995): Melorheostosis and somatic mosaicism. Am J Med Genet 28:199

Gerrard JW, Holman GH, Gorman AA, Morrow IH (1961): Familial infantile cortical hyperostosis. J Pediat 59: 543-548

Gorlin RJ, Spranger J, Koszalka MF (1969): Genetic craniotubular bone dysplasias and hyperostoses: A critical analysis. Birth Defects Orig Art Ser V 4:79-95

Greenspan A (1991): Sclerosing bone dysplasias--a target-site approach. Skeletal Radiol 20:561-83

Greenspan A, Azouz EM (1999): Bone dysplasia series: melorheostosis: review and update. Can Assoc Radiol J 50:324-330

Habeebu SSM, Gibson JE, Affara NA, Ferguson-Smith MA (1989): Localization of two zinc finger protein genes to (a) two loci on chromosome 5 at 5p13-p14 and 5q12-q13 and to (b) the long arm of the X at Xq13-q21. Cytogenet. Cell Genet 51:1009

Hakim FT, Cranley R, Brown KS, Eanes ED, Harne L, Oppenheim JJ (1984): Hereditary joint disorder in progressive ankylosis (ank/ank) mice. I. Association of calcium hydroxyapatite deposition with inflammatory arthropathy. Arthritis Rheum 27:1411-1420

Hakim FT, Brown KS, Oppenheim JJ (1986): Hereditary joint disorder in progressive ankylosis (ank/ank) mice. II. Effect of high-dose hydrocortisone treatment on inflammation and intraarticular calcium hydroxyapatite deposits. Arthritis Rheum 29:114-123

Hall CM (2002): International Nosology and classification of Constitutional Disorders of bone (2001). Am J Med Genet 113:65-77

Hall JG (1986): Analysis of Pena Shokeir phenotype. Am J Med Genet 25:99-117

Halliday J (1949): A rare case of bone dystrophy. Brit J Surg 37:52-63

Halverson PB, Derfus BA (2001): Calcium crystal-induced inflammation. Curr Opin Rheumatol 13:221-224

[Seite 39↓]

Happle R (1986): McCune-Albright syndrome: a lethal gene surviving by mosaicism. Clin Genet 29:321-324

Happle R (1993): Mosaicism in human skin: understanding the patterns and mechanisms. Arch Dermatol 129:1460-1470

Happle R (1995): Cutaneous manifestation of lethal genes. Hum Genet 72:280

Happle R, Barbi G, Eckert D, Kennerknecht I (1997): „Cutis tricolor" : congenital hyper- and hypopigmented macules associated with a sporadic multisystem birth defect: an unusual example of twin spotting? J Med Genet 34:676-678

Happle R, Koopman R, Mier PD (1990): Hypothesis: vascular twin naevi and somatic recombination in man. Lancet 335:376-378

Happle R, König A (2001): Didymosis aplasticosebacea: Coexistence of aplasia cutis congenita and nevus sebaceus may be explained as a twin spot phenomenon. Dermatology 202:246-248

Happle R, Steijlen PM (1989): Phakomatosis pigmentovascularis interpreted as a phenomenon of twin spots. Hautarzt 40:721-724

Happle R, Steijlen PM, Theile U, Karitzky D, Tinschert S, Albrecht-Nebe H, Küster W (1997): Patchy dermal hypoplasia as a characteristic feature of Proteus syndrome. Arch Dermatol 133:77-80

Ho AM, Johnson M D, Kingsley DM (2000): Role of the mouse ank gene in control of tissue calcification and arthritis. Science 289:265-270

Hofmann K, Stoffel W (1993): TMbase - A database of membrane spanning proteins segments. Biol Chem Hoppe-Seyler 374:166

Horn LC, Faber R, Meiner A, Piskazeck U, Spranger J (2000): Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity. Prenat Diagn 20:1008-1011

Howard GM, Nguyen TV, Harris M, Kelly PJ, Eisman JA (1998): Genetic and environmental contributions to the association between quantitative ultrasound and bone mineral density measurements: a twin study. J Bone Miner Res 13:1318-1327

Hughes AE, McGibbon D, Woodward E, Dixey J, Doherty M (1995): Localisation of a gene for chondrocalcinosis to chromosome 5p. Hum Mol Genet 4:1225-1228

Iughetti P, Alonso LG, Wilcox W, Alonso N, Passos-Bueno MR (2000): Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. Am J Med Genet 95:482-491

Jackson WPU, Albright F, Drewery G, Hanelin J, Rubin ML (1954): Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia and related conditions. Arch Intern Med 94:871-885

Janssens K, Van Hul W (2002): Molecular genetics of too much bone. Hum Mol Genet 11:2385-2393

Jenkins EP, Hsieh CL, Milatovich A, Normington K, Berman DM, Francke U, Russell DW (1991): Characterization and chromosomal mapping of a human steroid 5 alpha-reductase gene and pseudogene and mapping of the mouse homologue. Genomics 11:1102-1112

[Seite 40↓]

Kim IS, Kim ER, Nam HJ, Chin MO, Moon YH, Oh MR, Yeo UC, Song SM, Kim JS, Uhm MR, Beck NS, Jin DK (1999): Activating mutation of GS alpha in McCune-Albright syndrome causes skin pigmentation by tyrosinase gene activation on affected melanocytes. Horm Res 52:235-240

Kim JE, Kim EH, Han EH, Park RW, Park IH, Jun SH, Kim JC, Young MF, Kim IS (2000): A TGF-beta-inducible cell adhesion molecule, betaig-h3, is downregulated in melorheostosis and involved in osteogenesis. J Cell Biochem 77:169-178

Komins C (1954): Familial metaphyseal dysplasia (Pyle´s disease). Brit J Radiol 27:670-675

Koshizuka Y, Kawaguchi H, Ogata N, Ikeda T, Mabuchi A, Seichi A, Nakamura Y, Nakamura K, Ikegawa S (2002): Nucleotide pyrophosphatase gene polymorphism associated with ossification of the posterior longitudinal ligament of the spine. J Bone Miner Res 17:138-144

Kozlowski K, Tsuruta T (1989): Dysplastic cortical hyperostosis: a new form of lethal neonatal dwarfism. Br J Radiol 62:376-378

Lane JM, Khan SN, O'Connor WJ, Nydick M, Hommen JP, Schneider R, Tomin E, Brand J, Curtin J (2001): Bisphosphonate therapy in fibrous dysplasia. Clin Orthop 382:6-12

Lécolier B, Bercau G, Gonzales M, Afriat R, Rambaud D, Mulliez N, de Kermadec S (1992): Radiographic, haematological, and biochemical findings in a fetus with Caffey disease. Prenat Diagn 12:637-641

Lehmann ECH (1957): Familial osteodystrophy of the skull and face. J Bone Joint Surg 39B:313-315

Léri A, Joanny J 1922 Une affection non décrite des os: hyperostose “en coulée” sur toute la longueur d’un membre ou “melorhéostose”. Bull Mem Soc Hop Paris 46 1141

Lichtenstein L, Jaffe HL (1942): Fibrous dysplasia of the bone: a condition affecting one, several or many bones, the graver cases of which may present abnormal pigmentation of skin, premature sexual development, hyperthyroidism or still other extraskeletal abnormalities. Arch Path 33:777-816

Lièvre JA, Fischgold H (1956): Leontiasis ossea chez l'enfant (ostéopétrose partielle probable). Presse Méd 64:763-765

Lust G, Faure G, Netter P, Seegmiller JE (1981): Increased pyrophosphate in fibroblasts and lymphoblasts from patients with hereditary diffuse articular chondrocalcinosis. Science 214:809-810

Marie PJ, Lomri A, Chanson P, de Pollak C (1997): Increased proliferation of osteoblastic cells expressing the activating Gsa mutation in monostotic and polyostotic fibrous dysplasia. Am J Pathol 150:1059-1069

MacLachlan AK, Gerrard JW, Houston CS, Ives EJ (1984): Familial infantile cortical hyperostosis in a large Canadian family. Can Med Assoc J 130:1172-1174

McCune DJ, Bruch H (1937): Progress in pediatrics: osteodystrophia fibrosa. Am J Dis Child 54: 806-848

McPherson et al., International Human Genome Mapping Consortium 2001 A physical map of the human genome. Nature 409 934-941

Millard DR, Maisels DO, Batstone JHF, Yates BW (1967): Craniofacial surgery in craniometaphyseal dysplasia. Am J Surg 113:615-621

[Seite 41↓]

Morel G, Chavassieux P, Barenton B, Dubois PM, Meunier PJ, Boivin (1993): Evidence for a direct effect of growth hormone on osteoblasts. Cell Tissue Res 273:279-286

Mornet E (2000): Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. Hum Mutat 15:309-315

Mundlos S, Olsen BR (1997): Heritable diseases of the skeleton. Part II: Molecular insights into skeletal development-matrix components and their homeostasis. FASEB 11:227-233

Murray RO, McCredie J (1979). Melorheostosis and the sclerotomes: a radiological correlation. Skeletal Radiol 4:57-71

Nakamura I, Ikegawa S, Okawa A, Okuda S, Koshizuka Y, Kawaguchi, H Nakamura K, Koyama T, Goto, S, Toguchida J, Matsushita M, Ochi T, Takaoka K, Nakamura Y (1999): Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL). Hum Genet 104:492-497

Nerlich A, Peschel O, Lohrs, U, Parsche F, Betz, P (1991): Juvenile gigantism plus polyostotic fibrous dysplasia in the Tegernsee giant. (Letter) Lancet 338:886-887

Newberg AH, Tampas JP (1981): Familial infantile cortical hyperostosis: an update. Am J Roentgenol 137:93-96

Nürnberg P, Tinschert S, Mrug M, Hampe J, Müller CR, Fuhrmann E, Braun HS, Reis A (1997): The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene. Am J Hum Genet 61:918-923

Nürnberg P, Thiele H, Chandler D, Höhne W, Cunningham ML, Ritter H, Leschik G, Uhlmann K, Mischung C, Harrop K, Goldblatt J, Borochowitz ZU, Kotzot D, Westermann F, Mundlos S, Braun HS, Laing N, Tinschert S (2001): Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nat Genet 28:37-41

O'Duffy, JD 1970 Hypophosphatasia associated with calcium pyrophosphate dehydrate deposits in cartilage: report of a case. Arthritis Rheum 13 381-388

Okawa A, Nakamura I, Goto S, Moriya H, Nakamura Y, Ikegawa S (1998): Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine. Nat Genet 19:271-273

Orcel P, Beaudreuil J (2002): Bisphosphonates in bone diseases other than osteoporosis. Joint Bone Spine 69:19-27

Overhauser J, Huang X, Gersh M, Wilson W, McMahon J, Bengtsson U, Rojas K, Meyer M, Wasmuth JJ (1994): Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. Hum Mol Genet 3:247-252

Patten JL, Levine MA (1990): Immunochemical analysis of the subunit of the stimulatory G-protein of adenylyl cyclase in patients with Albright’s hereditary osteodystrophy. J Clin Endocrinol Metab 71:1208–1214

Patterson JT (1929): The production of mutations in somatic cells of Drosophila melanogaster by means of X-rays. J Exp Zool 53 :327-372

Penchaszadeh VB, Gutierriz ER, Figeueroa EP (1980): Autosomal recessive craniometaphyseal dysplasia Am J Med Genet 5:43-55

[Seite 42↓]

Pendleton A, Johnson MD, Hughes A, Gurley KA, Ho AM, Doherty M, Dixey J, Gillet P, Loeuille D, McGrath R, Reginato A, Shiang R, Wright G, Netter P, Williams C, Kingsley DM (2002): Mutations in ANKH cause chondrocalcinosis. Am J Hum Genet 71:933-940

Pfeilschifter J, Ziegler R (1998): Effect of pamidronate on clinical symptoms and bone metabolism in fibrous dysplasia and McCune-Albright syndrome. Med Klin 15:352-359

Polymeropoulos MH, Ortiz De Luna RI, Ide S E, Torres R, Rubenstein J, Francomano CA (1995): The gene for pycnodysostosis maps to human chromosome 1cen-q21. Nature Genet 10:238-239

Raad MS, Beighton P (1978): Autosomal recessive inheritance of metaphyseal dysplasia (Pyle disease). Clin Genet 14:251-256

Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, Baur ST, Shiang R, Grange DK, Beighton P, Gardner J, Hamersma H, Sellars S, Ramesar R, Lidral AC, Sommer A, Raposo do Amaral CM, Gorlin RJ, Mulliken JB, Olsen BR (2001): Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet 68:1321-1326

Richards A, Brain C, Dillon MJ, Bailey CM 1996): Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management. J Laryngol Otol 110:328-338

Riminucci M, Fisher LW, Shenker A, Spiegel AM, Bianco P, Robey PG (1997): Fibrous dysplasia of bone in the McCune-Albright syndrome: abnormalities in bone formation. Am J Pathol 151:1587–1600

Rimoin DL, Woodruff SL, Holman BL (1969): Craniometaphyseal dysplasia (Pyle's disease): autosomal dominant inheritance in a large kindred. Birth Defects Orig Art Ser 5:96-104

Ringel MD, Schwindinger WF, Levine MA (1996): Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy. Medicine Baltimore 75:171-184

Rodan GA, Martin TJ (2000): Therapeutic approaches to bone diseases. Science 289:1508-1514

Ross MW, Altman DH 1967 Familial metaphyseal dysplasia. Review of the clinical and radiologic feature of Pyle's disease. Clin Pediatr (Phila) 6:143-149

Ryan LM (2001): The ank gene story. Arthritis Res 3:77-79

Savarirayan R, Rimoin DL (2002): The skeletal dysplasias. Best Pract Res Clin Endocrinol Metab 16:547-560

Schweiger S, Chaoui R, Lehmann K, Tennstedt C, Mundlos S, Tinschert S (2003): Antenatal onset of infantile cortical hyperostosis: report on a fetus with the severe form and a review of the literature. Am J Med Genet 120A:547-552

Schwindinger WF, Francomano CA, Levine MA (1992): Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci USA 89:5152–5156

Schwindinger WF, Francomano CA, Levine MA, McKusick VA (1991): DNA light on the Tegernsee giant. (Letter) Lancet 338:1454-1455

[Seite 43↓]

Shea J, Gerbe R, Ayani N (1981): Craniometaphyseal dysplasia: the first successful surgical treatment for associated hearing loss. Laryngoscope 91:1369-1374

Sly WS, Whyte MP, Sundaram V, Tashian RE, Hewett-Emmett D, Guibaud P, Vainsel M, Baluarte HJ, Gruskin A, Al-Mosawi M, Sakati N, Ohlsson A (1985): Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. New Eng J Med 313 :139-145

Sommer F (1954): Eine besondere Form einer generalisierten Hyperostose mit Leontiasis ossea faciei et cranii. Radiol Clin (Basel) 23 :65-75

Spranger J, Paulsen K, Lehmann W (1965 ): Die kraniometaphysäre Dysplasie (Pyle). Z Kinderheilkd 93:64-79

Stein GS, Lian JB (1993): Molecular mechanisms mediating proliferation/differentiation interrelationships during progressive development of the osteoblast phenotype. Endocr Rev 14:424-442

Stengel D, Parma J, Gannage MH, Roeckel N, Mattei MG, Barouki R, Hanoune J (1992): Different chromosomal localization of two adenylyl cyclase genes expressed in human brain. Hum Genet 90:126-130

Stern, C (1936): Somatic crossing over and segregation in Drosophila melanogaster. Genetics 21:625-73

Superti-Furga A, Bonafe L, Rimoin DL (2001): Molecular-pathogenetic classification of genetic disorders of the skeleton. Am J Med Genet 106:282-293

Taylor DB, Sprague P (1989): Dominant craniometaphyseal dysplasia - a family study over five generations. Australas Radiol 33:84-89

Teitelbaum SL (2000): Bone resorption by osteoclasts. Science 289:1504-1508

Terkeltaub RA 2001 Inorganic pyrophosphate generation and disposition in pathophysiology. Am J Physiol Cell Physiol 281:C1-C11

Tinschert S, Braun HS (1998): Craniometaphyseal dysplasia in six generations of a German kindred. Am J Med Genet 77:175-181

Tinschert S, Gerl H, Gewies A, Jung HP, Nürnberg P (1999): McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient. Am J Med Genet 83:100-108

Tinschert S, Stein A, Göldner B, Dietel M, Happle R (2003): Melorheostosis with ipsilateral nevus sebaceus (didymosis melorheosebacea). Europ J Dermatol 13:21-24

Turnpenny PD, Davidson R, Stockdale EJN, Tolmie JL, Sutton AM (1993): Severe prenatal infantile cortical hyperostosis (Caffey's disease). Clin Dysmorphol 2:81-86

Uehlinger E (1979): Fibröse Dysplasie (Jaffé-Lichtenstein); Osteofibrosis deformans juvenilis (Uehlinger); Albrightsches Syndrom. In Schinz HR, Baensch WE, Frommhold W, Glauner R, Uehlinger E, Wellauer J : Lehrbuch der Röntgendiagnostik , 6. Aufl., Bd II/I. Thieme, Stuttgart (S. 947-982)

Van Buskirk F, Tampas J, Peterson O (1961): Infantile cortical hyperostosis: an inquiry into its familial aspects. Am J Roentgen 85:613-632

Vanhoenacker FM, De Beuckeleer LH, Van Hul W, Balemans W, Tan GJ, Hill SC, De Schepper AM (2000): Sclerosing bone dysplasias: genetic and radioclinical features. Eur Radiol 10:1423-433

[Seite 44↓]

Van Hul W, Vanhoenacker F, Balemans W, Janssens K, De Schepper AM (2001): Molecular and radiological diagnosis of sclerosing bone dysplasias. Eur J Radiol 40:198-207

Venter et al. 2001 The sequence of the human genome. Science 291 1304-51

Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM (1991): Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 325:1688–1695

Weinstein LS, Yu S, Warner DR, Liu J (2001): Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr Rev 22:675-705

Weinstein RS 1997 : Long-term aminobisphosphonate treatment of fibrous dysplasia: spectacular increase in bone density. J Bone Miner Res 12 :1314-1315

Wemmer U, Böttger E (1978 ): Die kraniometaphysäre Dysplasie (Jackson). Fortschr Röntgenstr 128 :66-69

Wendling D, Jeannin-Louys L, Kremer P, Fellmann F, Toussirot E, Mornet E (2001 ): Adult hypophosphatasia. Current aspects. Joint Bone Spine 68 :120-124

Whyte MP, Murphy WA, Fallon MD (1982 ): Adult hypophosphatasia with chondrocalcinosis and arthropathy: variable penetrance of hypophosphatasemia in a large Oklahoma kindred. Am J Med 72 :631-641

Williams CJ, Zhang Y, Timms A, Bonavita G, Caeiro F, Broxholme J, Cuthbertson J, Jones Y, Marchegiani R, Reginato A, Graham R, Russell G, Wordsworth BP, Carr AJ, MA Brown (2002 ): Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. Am J Hum Genet 71:985-991

Wolf U (1995): The genetic contribution to the phenotype. Hum Genet 95:127-148

Wolf U (1997): Identical mutations and phenotypic variation. Hum Genet 100:305-321

Wrong O (1992) Tegernsee giant. Lancet 339:194

Yamamoto T, Ozono K, Kasayama S, Yoh K, Hiroshima K, Takagi M, Matsumoto S, Michigami T, Yamaoka K, Kishimoto T, Okada S (1996): Increased IL-6 production by cells isolated from the fibrous bone dysplasia tissues in patients with McCune-Albright syndrome. J Clin Invest 98 :30-35

© Die inhaltliche Zusammenstellung und Aufmachung dieser Publikation sowie die elektronische Verarbeitung sind urheberrechtlich geschützt. Jede Verwertung, die nicht ausdrücklich vom Urheberrechtsgesetz zugelassen ist, bedarf der vorherigen Zustimmung. Das gilt insbesondere für die Vervielfältigung, die Bearbeitung und Einspeicherung und Verarbeitung in elektronische Systeme.
DiML DTD Version 3.0Zertifizierter Dokumentenserver
der Humboldt-Universität zu Berlin
HTML-Version erstellt am: