-
1
-
-
78349252147
-
-
Online Mendelian Inheritance in Man (OMIM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), November 11
-
Online Mendelian Inheritance in Man (OMIM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), November 11, 2009
-
(2009)
-
-
-
2
-
-
0014341985
-
Dysosteosclerosis: A special form of generalized osteosclerosis
-
Spranger J, Albrecht C, Rohwedder HJ, Wiedemann HR,. Dysosteosclerosis: a special form of generalized osteosclerosis. Fortschr Geb Rontgenstr Nuklearmed. 1968; 109: 504 -512.
-
(1968)
Fortschr Geb Rontgenstr Nuklearmed
, vol.109
, pp. 504-12
-
-
Spranger, J.1
Albrecht, C.2
Rohwedder, H.J.3
Wiedemann, H.R.4
-
3
-
-
0042605325
-
Osteopetrosis
-
Royce P.M., Steinmann B., eds., 2nd ed. New York: Wiley-Liss
-
Whyte MP,. Osteopetrosis. In:, Royce PM, Steinmann B, eds. Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, 2nd ed. New York: Wiley-Liss; 2002: 789 -807.
-
Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects
, vol.2002
, pp. 789-807
-
-
Whyte, M.P.1
-
4
-
-
0016731716
-
Dysosteosclerosis
-
Leisti J, Kaitila I, Lachman RS, Asch MJ, Rimoin DL,. Dysosteosclerosis. Birth Defects. 1975; 11: 349 -351.
-
(1975)
Birth Defects
, vol.11
, pp. 349-51
-
-
Leisti, J.1
Kaitila, I.2
Lachman, R.S.3
Asch, M.J.4
Rimoin, D.L.5
-
5
-
-
0017171552
-
Histologic heterogeneity in the hyperostotic bone dysplasias
-
Kaitila I, Rimoin DL,. Histologic heterogeneity in the hyperostotic bone dysplasias. Birth Defects. 1976; 21: 71 -79.
-
(1976)
Birth Defects
, vol.21
, pp. 71-9
-
-
Kaitila, I.1
Rimoin, D.L.2
-
7
-
-
0025860341
-
Osteomyelitis of the mandible in a patient with dysosteosclerosis
-
Packota GV, Shiffman J, Hall JM,. Osteomyelitis of the mandible in a patient with dysosteosclerosis. Oral Surg, Oral Med, Oral Path. 1991; 71: 144 -147.
-
(1991)
Oral Surg, Oral Med, Oral Path
, vol.71
, pp. 144-47
-
-
Packota, G.V.1
Shiffman, J.2
Hall, J.M.3
-
8
-
-
78349268400
-
Dysosteosclerosis
-
5th ed. St. Louis, MO, Mosby
-
Lachman RS,. Dysosteosclerosis. In: Taybi and Lachman's: Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias, 5th ed. St. Louis, MO, Mosby; 2007: 938 -939.
-
Taybi and lachman'S: Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias
, vol.2007
, pp. 938-939
-
-
Lachman, R.S.1
-
9
-
-
78349289318
-
Dysosteosclerosis
-
2nd ed. New York, NY: Oxford University Press
-
Spranger JW, Brill PW, Poznanski A,. Dysosteosclerosis. In: Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development, 2nd ed. New York, NY: Oxford University Press; 2002: 476 -479.
-
Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development
, vol.2002
, pp. 476-479
-
-
Spranger, J.W.1
Brill, P.W.2
Poznanski, A.3
-
10
-
-
0031277494
-
Dysosteosclerosis: Clinicoradiologic findings including brain MRI
-
Sener RN, Yalman O, Cetingul N, Tutuncuoglu S, Kavakli K, Ustun EE,. Dysosteosclerosis: clinicoradiologic findings including brain MRI. Comput Med Imaging Graph. 1997; 21: 355 -357.
-
(1997)
Comput Med Imaging Graph
, vol.21
, pp. 355-57
-
-
Sener, R.N.1
Yalman, O.2
Cetingul, N.3
Tutuncuoglu, S.4
Kavakli, K.5
Ustun, E.E.6
-
11
-
-
0017655244
-
X-linked dysosteosclerosis. Four familial cases
-
Pascual-Castroviejo I, Casas-Fernandez C, Lopez-Martin V, Martinez-Bermejo A,. X-linked dysosteosclerosis. Four familial cases. Eur J Pediatr. 1997; 126: 127 -138.
-
(1997)
Eur J Pediatr
, vol.126
, pp. 127-38
-
-
Pascual-Castroviejo, I.1
Casas-Fernandez, C.2
Lopez-Martin, V.3
Martinez-Bermejo, A.4
-
13
-
-
16144363572
-
Albers-Schönberg Disease. An atypical case
-
Field CE,. Albers-Schönberg Disease. An atypical case. Proc Roy Soc Med. 1938; 30: 320.
-
(1938)
Proc Roy Soc Med
, vol.30
, pp. 320
-
-
Field, C.E.1
-
14
-
-
0014340114
-
Un nouveau syndrome osseux avec anomalies cutanées et troubles neurologiques
-
Roy C, Maroeaux P, Kremp L, Courtecuisse V, Alagille D,. Un nouveau syndrome osseux avec anomalies cutanées et troubles neurologiques. Arch Fr Pediatr. 1968; 25: 893 -905.
-
(1968)
Arch Fr Pediatr
, vol.25
, pp. 893-05
-
-
Roy, C.1
Maroeaux, P.2
Kremp, L.3
Courtecuisse, V.4
Alagille, D.5
-
15
-
-
0029818785
-
Dysosteosclerosis
-
Johns E, Kozlowski K, Masel J, Muralinath S, Vijayalaskshmi G,. Dysosteosclerosis. Australas Radiol. 1998; 40: 345 -347.
-
(1998)
Australas Radiol
, vol.40
, pp. 345-47
-
-
Johns, E.1
Kozlowski, K.2
Masel, J.3
Muralinath, S.4
Vijayalaskshmi, G.5
-
16
-
-
38849199760
-
Clinical and radiologic findings in an adult male with dysosteoslcerosis
-
Lemire EG, Wiebe W,. Clinical and radiologic findings in an adult male with dysosteoslcerosis. Am J Med Genet. 2007; 146A: 474 -478.
-
(2007)
Am J Med Genet
, vol.146
, pp. 474-78
-
-
Lemire, E.G.1
Wiebe, W.2
-
17
-
-
78349278017
-
Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (chloride channel 7 deficiency osteopetrosis) among the sclerosing bone disorders
-
Whyte MP, Kempa L, McAlister WH, Zhang F, Mumm S, Wenkert D,. Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (chloride channel 7 deficiency osteopetrosis) among the sclerosing bone disorders. J Bone Miner Res 2010; 25: 2515 -2526.
-
(2010)
J Bone Miner Res
, vol.25
, pp. 2515-526
-
-
Whyte, M.P.1
Kempa, L.2
McAlister, W.H.3
Zhang, F.4
Mumm, S.5
Wenkert, D.6
-
18
-
-
0029782606
-
Creatine kinase brain isoenzyme (BB-CK) presence in serum distinguishes osteopetroses among the sclerosing bone disorders
-
Whyte MP, Chines A, Silva DP, Landt Y, Ladenson JH,. Creatine kinase brain isoenzyme (BB-CK) presence in serum distinguishes osteopetroses among the sclerosing bone disorders. J Bone Miner Res. 1996; 11: 1438 -1443.
-
(1996)
J Bone Miner Res
, vol.11
, pp. 1438-443
-
-
Whyte, M.P.1
Chines, A.2
Silva, D.P.3
Landt, Y.4
Ladenson, J.H.5
-
19
-
-
0033987358
-
Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis
-
Hughes AE, Ralston SH, Marken J, et al. Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. Nat Genet. 2000; 24: 45 -48.
-
(2000)
Nat Genet
, vol.24
, pp. 45-48
-
-
Hughes, A.E.1
Ralston, S.H.2
Marken, J.3
-
20
-
-
0037130183
-
Osteoprotegerin deficiency and juvenile Paget's disease
-
Whyte MP, O'Brecht SE, Finnegan PM, et al. Osteoprotegerin deficiency and juvenile Paget's disease. N Engl J Med. 2002; 347: 175 -184.
-
(2002)
N Engl J Med
, vol.347
, pp. 175-184
-
-
Whyte, M.P.1
O'Brecht, S.E.2
Finnegan, P.M.3
-
21
-
-
34547521058
-
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL
-
Sobacchi C, Frattini A, Guerrini MM, et al. Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. Nature Genet. 2007; 39: 960 -962.
-
(2007)
Nature Genet
, vol.39
, pp. 960-962
-
-
Sobacchi, C.1
Frattini, A.2
Guerrini, M.M.3
-
22
-
-
0035041718
-
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia
-
Nürnberg P, Thiele H, Chandler D, et al. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nat Genet. 2001; 28: 37 -41.
-
(2001)
Nat Genet
, vol.28
, pp. 37-41
-
-
Nürnberg, P.1
Thiele, H.2
Chandler, D.3
-
23
-
-
16844381214
-
Upper segment/lower segment ratio and armspan-height difference in healthy Turkish children
-
Turan S, Bereket A, Omar A, Berber M, Ozen A, Bekiroglu N,. Upper segment/lower segment ratio and armspan-height difference in healthy Turkish children. Acta Paediatr. 2005; 94: 407 -413.
-
(2005)
Acta Paediatr
, vol.94
, pp. 407-13
-
-
Turan, S.1
Bereket, A.2
Omar, A.3
Berber, M.4
Ozen, A.5
Bekiroglu, N.6
-
25
-
-
78349291604
-
-
Connective Tissue Gene Tests (Allentown, PA)
-
Connective Tissue Gene Tests (Allentown, PA).
-
-
-
-
26
-
-
33750568298
-
Robust and comprehensive analysis of 20 osteoporosis candidate genes by very high-density single-nucleotide polymorphism screen among 405 white nuclear families identified significant association and gene-gene interaction
-
Xiong DH, Shen H, Zhao LJ, et al. Robust and comprehensive analysis of 20 osteoporosis candidate genes by very high-density single-nucleotide polymorphism screen among 405 white nuclear families identified significant association and gene-gene interaction. J Bone Miner Res. 2006; 21: 1678 -1695.
-
(2006)
J Bone Miner Res
, vol.21
, pp. 1678-1695
-
-
Xiong, D.H.1
Shen, H.2
Zhao, L.J.3
-
27
-
-
29244488577
-
Variation in genes involved in the RANKL/RANK/OPG bone remodeling pathway are associated with bone mineral density at different skeletal sites in men
-
Hsu YH, Niu T, Terwedow HA, et al. Variation in genes involved in the RANKL/RANK/OPG bone remodeling pathway are associated with bone mineral density at different skeletal sites in men. Hum Genet. 2006; 118: 568 -577.
-
(2006)
Hum Genet
, vol.118
, pp. 568-577
-
-
Hsu, Y.H.1
Niu, T.2
Terwedow, H.A.3
-
28
-
-
79955627772
-
Camurati-Engelmann disease: Unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 with a missense change in TNFSF11 encoding RANK ligand
-
(in press)
-
Whyte MP, Totty WG, Novack DV, Wenkert D,., Zhang X, Mumm S,. Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 with a missense change in TNFSF11 encoding RANK ligand. J Bone Miner Res. (in press).
-
J Bone Miner Res.
-
-
Whyte, M.P.1
Totty, W.G.2
Novack, D.V.3
Wenkert, D.4
Zhang, X.5
Mumm, S.6
-
29
-
-
0021350813
-
Treatment of congenital osteopetrosis with high-dose calcitriol
-
Key L, Carnes D, Cole S, et al. Treatment of congenital osteopetrosis with high-dose calcitriol. N Engl J Med. 1984; 310: 409 -415.
-
(1984)
N Engl J Med
, vol.310
, pp. 409-415
-
-
Key, L.1
Carnes, D.2
Cole, S.3
-
30
-
-
0036344452
-
Dysosteosclerosis: A report of three new cases and evaluation of the radiological findings
-
Elçioglu NH, Vellodi A, Hall CM,. Dysosteosclerosis: A report of three new cases and evaluation of the radiological findings. J Med Genet. 2002; 39: 603 -607.
-
(2002)
J Med Genet
, vol.39
, pp. 603-07
-
-
Elçioglu, N.H.1
Vellodi, A.2
Hall, C.M.3
-
31
-
-
0019188964
-
Dysosteosclerosis in a mentally retarded boy
-
Fryns JP, Vinken L, Claessens S, Marien J, Geutiens J, Van den Berghe H,. Dysosteosclerosis in a mentally retarded boy. Acta Paediatr Belg. 1980; 33: 53 -56.
-
(1980)
Acta Paediatr Belg
, vol.33
, pp. 53-6
-
-
Fryns, J.P.1
Vinken, L.2
Claessens, S.3
Marien, J.4
Geutiens, J.5
Van Den Berghe, H.6
-
32
-
-
0025949273
-
Sclerosing bone dysplasias-a target-site approach
-
Greenspan A,. Sclerosing bone dysplasias-a target-site approach. Skeletal Radiol. 1991; 20: 561 -583.
-
(1991)
Skeletal Radiol
, vol.20
, pp. 561-83
-
-
Greenspan, A.1
-
33
-
-
4243860491
-
-
Piccin Nuova Libraria S.p.A, Padova, Italy
-
Canepa G, Maroteaux P, Pietrogrande V,. Dysmorphic Syndromes and Constitutional Diseases of the Skeleton. Piccin Nuova Libraria S.p.A, Padova, Italy: 2001.
-
(2001)
Dysmorphic Syndromes and Constitutional Diseases of the Skeleton
-
-
Canepa, G.1
Maroteaux, P.2
Pietrogrande, V.3
-
34
-
-
0033149288
-
A case with unique dental findings and SEM evaluation of a hypoplastic tooth
-
Oncag O, Ozkinay FF, Eronat C,. A case with unique dental findings and SEM evaluation of a hypoplastic tooth. J Clin Pediatr Dent. 1999; 23: 347 -352.
-
(1999)
J Clin Pediatr Dent
, vol.23
, pp. 347-52
-
-
Oncag, O.1
Ozkinay, F.F.2
Eronat, C.3
-
35
-
-
51649202454
-
Pathogenese und Klassifikation der Osteoskleresen
-
Stehr L,. Pathogenese und Klassifikation der Osteoskleresen. Arch Orthop Unfall-Chir. 1942; 41: 156.
-
(1942)
Arch Orthop Unfall-Chir
, vol.41
, pp. 156
-
-
Stehr, L.1
-
36
-
-
0026664516
-
Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: Nosology of dysosteosclerosis
-
Chitavat D, Silver K, Azous EM,. Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: nosology of dysosteosclerosis. Am J Med Genet. 1992; 43: 517 -523.
-
(1992)
Am J Med Genet
, vol.43
, pp. 517-23
-
-
Chitavat, D.1
Silver, K.2
Azous, E.M.3
-
37
-
-
22644440211
-
Case report: Dysosteosclerosis: A unique entity
-
Maheshwari A, Rao KK, Kohli N,. Case report: dysosteosclerosis: a unique entity. Clin Radiol. 1996; 51: 224 -228.
-
(1996)
Clin Radiol
, vol.51
, pp. 224-28
-
-
Maheshwari, A.1
Rao, K.K.2
Kohli, N.3
-
38
-
-
78349286012
-
-
Persönl. Mittlg. Von P. Maroteaux, Paris
-
Alagille D,. Persönl. Mittlg. Von P. Maroteaux, Paris.
-
-
-
Alagille, D.1
-
39
-
-
0014701996
-
Manifesetation der Dysosteosklerose in Kieferbe-reich
-
Utz VW,. Manifesetation der Dysosteosklerose in Kieferbe-reich. Dtsch Zahnaerztl Z. 1970; 25: 48 -50.
-
(1970)
Dtsch Zahnaerztl Z
, vol.25
, pp. 48-0
-
-
Utz, V.W.1
-
40
-
-
70349519230
-
Camurati-Engelmann disease: Imaging, clinical features and differential diagnosis
-
Bartuseviciene A, Samuilis A, Skucas J,. Camurati-Engelmann disease: imaging, clinical features and differential diagnosis. Skeletal Radiol. 2009; 38: 1037 -1043.
-
(2009)
Skeletal Radiol
, vol.38
, pp. 1037-043
-
-
Bartuseviciene, A.1
Samuilis, A.2
Skucas, J.3
-
41
-
-
33845971924
-
Nosology and classification of genetic skeletal disorders: 2006 version
-
the Nosology Group of the International Skeletal Dysplasia Society
-
Superti-Furga A, Unger S, and the Nosology Group of the International Skeletal Dysplasia Society. Nosology and classification of genetic skeletal disorders: 2006 version. Am J Med Genet Part A. 2007; 143A: 1 -18.
-
(2007)
Am J Med Genet Part A
, vol.143
, pp. 1-18
-
-
Superti-Furga, A.1
Unger, S.2
-
42
-
-
78349260521
-
-
th Ed). Rosen C.J., Compston J.E., Lian J.B., eds, Washington, DC: The American Society for Bone and Mineral Research
-
th Ed)., Rosen CJ, Compston JE, Lian JB, eds, Washington, DC: The American Society for Bone and Mineral Research; 2008, p. 413.
-
(2008)
Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism
, pp. 413
-
-
Whyte, M.P.1
-
43
-
-
66349084730
-
The Erlenmeyer flask bone deformity in the skeletal dysplasias
-
Faden MA, Krakow D, Ezgu F, Rimoin DL, Lachman RS,. The Erlenmeyer flask bone deformity in the skeletal dysplasias. Am J Med Genet. 2009; 149A: 1334 -1345.
-
(2009)
Am J Med Genet
, vol.149
, pp. 1334-345
-
-
Faden, M.A.1
Krakow, D.2
Ezgu, F.3
Rimoin, D.L.4
Lachman, R.S.5
-
45
-
-
58149308297
-
Infantile malignant, autosomal recessive osteopetrosis: The rich and the poor
-
Villa A, Guerrini MM, Cassani B, Pangrazio A, Sobacchi C,. Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor. Calcif Tissue Int. 2009; 84: 1 -12.
-
(2009)
Calcif Tissue Int
, vol.84
, pp. 1-2
-
-
Villa, A.1
Guerrini, M.M.2
Cassani, B.3
Pangrazio, A.4
Sobacchi, C.5
-
46
-
-
0018886806
-
Osteopetrosis, renal tubular acidosis, and basal ganglia calcification in three sisters
-
Whyte MP, Murphy WA, Fallon MD, et al. Osteopetrosis, renal tubular acidosis, and basal ganglia calcification in three sisters. Am J Med. 1980; 69: 64 -74.
-
(1980)
Am J Med
, vol.69
, pp. 64-74
-
-
Whyte, M.P.1
Murphy, W.A.2
Fallon, M.D.3
-
47
-
-
46349084493
-
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations
-
Guerrini MM, Sobacchi C, Cassani B, et al. Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. Am J Hum Genet. 2008; 83: 64 -76.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 64-76
-
-
Guerrini, M.M.1
Sobacchi, C.2
Cassani, B.3
-
48
-
-
0025332897
-
The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene
-
Yoshida H, Hayashi S, Kunisada T, et al. The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene. Nature. 1990; 345: 442 -444. (Pubitemid 120014957)
-
(1990)
Nature
, vol.345
, Issue.6274
, pp. 442-444
-
-
Yoshida, H.1
Hayashi, S.-I.2
Kunisada, T.3
Ogawa, M.4
Nishikawa, S.5
Okamura, H.6
Sudo, T.7
Shultz, L.D.8
Nishikawa, S.-I.9
-
49
-
-
58049100952
-
Advances in osteoclast biology resulting from the study of osteopetrotic mutations
-
Segovia-Silvestre T, Neutzsky-Wulff AV, Sorensen MG, et al. Advances in osteoclast biology resulting from the study of osteopetrotic mutations. Hum Genet. 2009; 124: 561 -577.
-
(2009)
Hum Genet
, vol.124
, pp. 561-577
-
-
Segovia-Silvestre, T.1
Neutzsky-Wulff, A.V.2
Sorensen, M.G.3
-
50
-
-
0031665086
-
Fourier transform infrared microspectroscopic analysis of bones of osteocalcin-deficient mice provides insight into the function of osteocalcin
-
Boskey AL, Gadaleta S, Gundberg C, Doty SB, Ducy P, Karsenty G,. Fourier transform infrared microspectroscopic analysis of bones of osteocalcin-deficient mice provides insight into the function of osteocalcin. Bone. 1998; 23: 187 -196.
-
(1998)
Bone
, vol.23
, pp. 187-96
-
-
Boskey, A.L.1
Gadaleta, S.2
Gundberg, C.3
Doty, S.B.4
Ducy, P.5
Karsenty, G.6
-
51
-
-
0032541325
-
The requirement for the p53 proline-rich functional domain for mediation of apoptosis is correlated with specific PIG3 gene transactivation and with transcriptional repression
-
Venot C, Maratrat M, Dureuil C, Conseiller E, Bracco L, Debussche L,. The requirement for the p53 proline-rich functional domain for mediation of apoptosis is correlated with specific PIG3 gene transactivation and with transcriptional repression. EMBO J. 1998; 17: 4668 -4679.
-
(1998)
EMBO J
, vol.17
, pp. 4668-679
-
-
Venot, C.1
Maratrat, M.2
Dureuil, C.3
Conseiller, E.4
Bracco, L.5
Debussche, L.6
-
52
-
-
33748357534
-
Evaluation of RANK/RANKL/OPG gene polymorphisms in aggressive periodontitis
-
DOI 10.1111/j.1600-0765.2006.00874.x
-
Soedarsono N, Rabello D, Kamei H, et al. Evaluation of RANK/RANKL/OPG gene polymorphisms in aggressive periodontitis. J Periodontal Res. 2006; 41: 397 -404. (Pubitemid 44337254)
-
(2006)
Journal of Periodontal Research
, vol.41
, Issue.5
, pp. 397-404
-
-
Soedarsono, N.1
Rabello, D.2
Kamei, H.3
Fuma, D.4
Ishihara, Y.5
Suzuki, M.6
Noguchi, T.7
Sakaki, Y.8
Yamaguchi, A.9
Kojima, T.10
|