-
1
-
-
0032696855
-
Human malignant osteopetrosis: Pathophysiology, management and the role of bone marrow transplantation
-
Fasth A, Porras O: Human malignant osteopetrosis: pathophysiology, management and the role of bone marrow transplantation. Pediatr Transplant 1999;3(suppl 1):102-107.
-
(1999)
Pediatr Transplant
, vol.3
, Issue.SUPPL. 1
, pp. 102-107
-
-
Fasth, A.1
Porras, O.2
-
2
-
-
0030048510
-
Recent developments in the understanding of the pathophysiology of osteopetrosis
-
Felix R, Hofstetter W, Cecchini MG: Recent developments in the understanding of the pathophysiology of osteopetrosis. Eur J Endocrinol 1996;134:143-156.
-
(1996)
Eur J Endocrinol
, vol.134
, pp. 143-156
-
-
Felix, R.1
Hofstetter, W.2
Cecchini, M.G.3
-
3
-
-
0037385299
-
Neurological aspects of osteopetrosis
-
Steward CG: Neurological aspects of osteopetrosis. Neuropathol Appl Neurobiol 2003;29:87-97.
-
(2003)
Neuropathol Appl Neurobiol
, vol.29
, pp. 87-97
-
-
Steward, C.G.1
-
5
-
-
0033756382
-
Autosomal recessive osteopetrosis: Diagnosis, management, and outcome
-
Wilson CJ, Vellodi A: Autosomal recessive osteopetrosis: diagnosis, management, and outcome. Arch Dis Child 2000;83:449-452.
-
(2000)
Arch Dis Child
, vol.83
, pp. 449-452
-
-
Wilson, C.J.1
Vellodi, A.2
-
6
-
-
0033946477
-
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis
-
Frattini A, Orchard PJ, Sobacchi C, et al: Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet 2000;25:343-346.
-
(2000)
Nat Genet
, vol.25
, pp. 343-346
-
-
Frattini, A.1
Orchard, P.J.2
Sobacchi, C.3
-
7
-
-
10744229008
-
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant and intermediate osteopetrosis
-
Frattini A, Pangrazio A, Susani L, et al: Chloride channel ClCN7 mutations are responsible for severe recessive, dominant and intermediate osteopetrosis. J Bone Miner Res 2003;18:1740-1747.
-
(2003)
J Bone Miner Res
, vol.18
, pp. 1740-1747
-
-
Frattini, A.1
Pangrazio, A.2
Susani, L.3
-
8
-
-
0035880417
-
The mutational spectrum of human malignant autosomal recessive osteopetrosis
-
Sobacchi C, Frattini A, Orchard PJ, et al: The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet 2001;10:1767-1773.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1767-1773
-
-
Sobacchi, C.1
Frattini, A.2
Orchard, P.J.3
-
9
-
-
0036211754
-
Osteoclastic acidification pathways during bone resorption
-
Rouselle AV, Heyman D: Osteoclastic acidification pathways during bone resorption. Bone 2002;30:533-540.
-
(2002)
Bone
, vol.30
, pp. 533-540
-
-
Rouselle, A.V.1
Heyman, D.2
-
10
-
-
0026409519
-
Morphologic features of bone in human osteopetrosis
-
Helfrich MH, Aronson DC, Everts V, et al: Morphologic features of bone in human osteopetrosis. Bone 1991;12:411-419.
-
(1991)
Bone
, vol.12
, pp. 411-419
-
-
Helfrich, M.H.1
Aronson, D.C.2
Everts, V.3
-
11
-
-
0023008527
-
Neutropil defect associated with malignant infantile osteopetrosis
-
Beard CJ, Key L, Newburger PE, et al: Neutropil defect associated with malignant infantile osteopetrosis. J Lab Clin Med 1986;108:498-505.
-
(1986)
J Lab Clin Med
, vol.108
, pp. 498-505
-
-
Beard, C.J.1
Key, L.2
Newburger, P.E.3
-
12
-
-
26944494614
-
Regulation of osteoclast development by immunoglobulin-like receptors]
-
Takai T, Inui M, Inoue K, Mori Y: [Regulation of osteoclast development by immunoglobulin-like receptors]. Nippon Rinsho 2005;63:1562-1568.
-
(2005)
Nippon Rinsho
, vol.63
, pp. 1562-1568
-
-
Takai, T.1
Inui, M.2
Inoue, K.3
Mori, Y.4
-
13
-
-
0034284970
-
Bone resorption by osteoclasts
-
Teitelbaum SL: Bone resorption by osteoclasts. Science 2000;289:1504-1508.
-
(2000)
Science
, vol.289
, pp. 1504-1508
-
-
Teitelbaum, S.L.1
-
14
-
-
18244389008
-
Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene
-
Cleiren E, Bénichou O, Van Hul E, et al: Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet 2001;10:2861-2867.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2861-2867
-
-
Cleiren, E.1
Bénichou, O.2
Van Hul, E.3
-
15
-
-
0031777652
-
Malignant infantile osteopetrosis: Otolaryngological complications and management
-
Stocks RM, Wang WC, Thompson JW, Stocks MC 2nd, Horwitz EM: Malignant infantile osteopetrosis: otolaryngological complications and management. Arch Otolaryngol Head Neck Surg 1998;124:689-694.
-
(1998)
Arch Otolaryngol Head Neck Surg
, vol.124
, pp. 689-694
-
-
Stocks, R.M.1
Wang, W.C.2
Thompson, J.W.3
Stocks 2nd, M.C.4
Horwitz, E.M.5
-
16
-
-
0037222822
-
Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis
-
Taranta A, Migliaccio S, Recchia I, et al: Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis. Am J Pathol 2003;162:57-68.
-
(2003)
Am J Pathol
, vol.162
, pp. 57-68
-
-
Taranta, A.1
Migliaccio, S.2
Recchia, I.3
-
17
-
-
0035195290
-
Imaging of malignant infantile osteopetrosis before and after bone marrow transplantation
-
Cheow HK, Steward CG, Grier DJ: Imaging of malignant infantile osteopetrosis before and after bone marrow transplantation. Pediatr Radiol 2001;31:869-875.
-
(2001)
Pediatr Radiol
, vol.31
, pp. 869-875
-
-
Cheow, H.K.1
Steward, C.G.2
Grier, D.J.3
-
18
-
-
0018891088
-
Successful bone-marrow transplantation for infantile malignant osteopetrosis
-
Coccia PF, Krivit W, Cervenka J, et al: Successful bone-marrow transplantation for infantile malignant osteopetrosis. N Engl J Med 1980;302:701-708.
-
(1980)
N Engl J Med
, vol.302
, pp. 701-708
-
-
Coccia, P.F.1
Krivit, W.2
Cervenka, J.3
-
19
-
-
0028135342
-
Bone marrow transplantation for autosomal recessive osteopetrosis: A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group
-
Gerritsen EJ, Vossen JM, Fasth A, et al: Bone marrow transplantation for autosomal recessive osteopetrosis: a report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group. J Pediatr 1994;125:896-902.
-
(1994)
J Pediatr
, vol.125
, pp. 896-902
-
-
Gerritsen, E.J.1
Vossen, J.M.2
Fasth, A.3
-
20
-
-
17744391552
-
Osteopetrosis: A single centre experience of stem cell transplantation and prenatal diagnosis
-
Kapelushnik J, Shalev C, Yaniv I, et al: Osteopetrosis: a single centre experience of stem cell transplantation and prenatal diagnosis. Bone Marrow Transplant 2001;27:129-132.
-
(2001)
Bone Marrow Transplant
, vol.27
, pp. 129-132
-
-
Kapelushnik, J.1
Shalev, C.2
Yaniv, I.3
-
21
-
-
0035313176
-
Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome
-
McMahon C, Will A, Hu P, Shah GN, Sly WS, Smith OP: Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome. Blood 2001;97:1947-1950.
-
(2001)
Blood
, vol.97
, pp. 1947-1950
-
-
McMahon, C.1
Will, A.2
Hu, P.3
Shah, G.N.4
Sly, W.S.5
Smith, O.P.6
-
22
-
-
0031844119
-
Early VEP and ERG evidence of visual dysfunction in autosomal recessive osteopetrosis
-
Thompson DA, Kriss A, Taylor D, et al: Early VEP and ERG evidence of visual dysfunction in autosomal recessive osteopetrosis. Neuropediatrics 1998;29:137-144.
-
(1998)
Neuropediatrics
, vol.29
, pp. 137-144
-
-
Thompson, D.A.1
Kriss, A.2
Taylor, D.3
-
23
-
-
26844488044
-
Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero
-
Frattini A, Blair HC, Sacco MG, et al: Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero. Proc Natl Acad Sci USA 2005;102:14629-14634.
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 14629-14634
-
-
Frattini, A.1
Blair, H.C.2
Sacco, M.G.3
-
24
-
-
85026144368
-
Surgical correction of craniosynostosis in malignant osteopetrosis
-
Krimmel M, Niemann G, Reinert S: Surgical correction of craniosynostosis in malignant osteopetrosis. J Craniofac Surg 2004;15:218-220.
-
(2004)
J Craniofac Surg
, vol.15
, pp. 218-220
-
-
Krimmel, M.1
Niemann, G.2
Reinert, S.3
-
25
-
-
4143077123
-
TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA
-
Susani L, Pangrazio A, Sobacchi C, et al: TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. Hum Mutat 2004;24:225-235.
-
(2004)
Hum Mutat
, vol.24
, pp. 225-235
-
-
Susani, L.1
Pangrazio, A.2
Sobacchi, C.3
-
26
-
-
0014479830
-
Surgical lengthening of the shin with simultaneous correction of deformities]
-
Ilizarov GA, Deviatov AA: [Surgical lengthening of the shin with simultaneous correction of deformities]. Ortop Travmatol Protez 1969;30:32-37.
-
(1969)
Ortop Travmatol Protez
, vol.30
, pp. 32-37
-
-
Ilizarov, G.A.1
Deviatov, A.A.2
-
27
-
-
0346880369
-
Advances in distraction techniques for craniofacial surgery
-
Matsumoto K, Nakanishi H, Kubo Y, Yokozeki M, Moriyama K: Advances in distraction techniques for craniofacial surgery. J Med Invest 2003;50:17-25.
-
(2003)
J Med Invest
, vol.50
, pp. 17-25
-
-
Matsumoto, K.1
Nakanishi, H.2
Kubo, Y.3
Yokozeki, M.4
Moriyama, K.5
-
28
-
-
0030858291
-
Frontofacial osteotomies, advancement, and remodeling by distraction: An extended application of the technique
-
Talisman R, Hemmy DC, Denny AD: Frontofacial osteotomies, advancement, and remodeling by distraction: an extended application of the technique. J Craniofac Surg 1997;8:308-317.
-
(1997)
J Craniofac Surg
, vol.8
, pp. 308-317
-
-
Talisman, R.1
Hemmy, D.C.2
Denny, A.D.3
|