-
1
-
-
0024327043
-
Molecular mechanisms of bone resorption by the osteoclast
-
Baron R (1989) Molecular mechanisms of bone resorption by the osteoclast. Anat Rec 224:317-324
-
(1989)
Anat Rec
, vol.224
, pp. 317-324
-
-
Baron, R.1
-
2
-
-
0022446902
-
Evidence for a high and specific concentration of (Na+,K+)ATPase in the plasma membrane of the osteoclast
-
Baron R, Neff L, Roy C, Boisvert A, Caplan M (1986) Evidence for a high and specific concentration of (Na+,K+)ATPase in the plasma membrane of the osteoclast. Cell 46:311-320
-
(1986)
Cell
, vol.46
, pp. 311-320
-
-
Baron, R.1
Neff, L.2
Roy, C.3
Boisvert, A.4
Caplan, M.5
-
3
-
-
0001690310
-
Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification
-
USA
-
Sly WS, Hewett-Emmett D, Whyte MP, Yu YS, Tashian RE (1983) Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. Proc Natl Acad Sci USA 80:2752-2756
-
(1983)
Proc Natl Acad Sci
, vol.80
, pp. 2752-2756
-
-
Sly, W.S.1
Hewett-Emmett, D.2
Whyte, M.P.3
Yu, Y.S.4
Tashian, R.E.5
-
4
-
-
0024461376
-
Osteoclastic bone resorption by a polarized vacuolar proton pump
-
Blair HC, Teitelbaum SL, Ghiselli R, Gluck S (1989) Osteoclastic bone resorption by a polarized vacuolar proton pump. Science 245:855-857
-
(1989)
Science
, vol.245
, pp. 855-857
-
-
Blair, H.C.1
Teitelbaum, S.L.2
Ghiselli, R.3
Gluck, S.4
-
6
-
-
0032599916
-
Malignant recessive osteopetrosis
-
Phadke SR, Gupta A, Pahi J, Pandey A, Gautam P, Agarwal SS (1999) Malignant recessive osteopetrosis. Indian Pediatr 36:69-74
-
(1999)
Indian Pediatr
, vol.36
, pp. 69-74
-
-
Phadke, S.R.1
Gupta, A.2
Pahi, J.3
Pandey, A.4
Gautam, P.5
Agarwal, S.S.6
-
7
-
-
0032696855
-
Human malignant osteopetrosis: Pathophysiology, management and the role of bone marrow transplantation
-
Fasth A, Porras O (1999) Human malignant osteopetrosis: pathophysiology, management and the role of bone marrow transplantation. Pediatr Transplant 3 (Suppl 1):102-107
-
(1999)
Pediatr Transplant
, vol.3
, Issue.1 SUPPL.
, pp. 102-107
-
-
Fasth, A.1
Porras, O.2
-
8
-
-
0033756382
-
Autosomal recessive osteopetrosis: Diagnosis, management, and outcome
-
Wilson CJ, Vellodi A (2000) Autosomal recessive osteopetrosis: diagnosis, management, and outcome. Arch Dis Child 83:449-452
-
(2000)
Arch Dis Child
, vol.83
, pp. 449-452
-
-
Wilson, C.J.1
Vellodi, A.2
-
9
-
-
2942746180
-
Autosomal malignant osteopetrosis. From diagnosis to therapy
-
Mohn A, Capanna R, Delli Pizzi C, Morgese G, Chiarelli F (2004) Autosomal malignant osteopetrosis. From diagnosis to therapy. Minerva Pediatr 56:115-118
-
(2004)
Minerva Pediatr
, vol.56
, pp. 115-118
-
-
Mohn, A.1
Capanna, R.2
Delli Pizzi, C.3
Morgese, G.4
Chiarelli, F.5
-
10
-
-
0028078722
-
Autosomal recessive osteopetrosis: Variability of findings at diagnosis and during the natural course
-
Gerritsen EJ, Vossen JM, van Loo IH, Hermans J, Helfrich MH, Griscelli C, Fischer A (1994) Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course. Pediatrics 93:247-253
-
(1994)
Pediatrics
, vol.93
, pp. 247-253
-
-
Gerritsen, E.J.1
Vossen, J.M.2
Van Loo, I.H.3
Hermans, J.4
Helfrich, M.H.5
Griscelli, C.6
Fischer, A.7
-
11
-
-
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, Friedrich W, Morgan G, Padmos A, Vellodi A, Porras O, O'Meara A, Porta F (1994) 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 125:896-902
-
(1994)
J Pediatr
, vol.125
, pp. 896-902
-
-
Gerritsen, E.J.1
Vossen, J.M.2
Fasth, A.3
Friedrich, W.4
Morgan, G.5
Padmos, A.6
Vellodi, A.7
Porras, O.8
O'Meara, A.9
Porta, F.10
-
12
-
-
0029047151
-
Long-term treatment of osteopetrosis with recombinant human interferon gamma
-
Key LL, Jr., Rodriguiz RM, Willi SM, Wright NM, Hatcher HC, Eyre DR, Cure JK, Griffin PP, Ries WL (1995) Long-term treatment of osteopetrosis with recombinant human interferon gamma. N Engl J Med 332:1594-1599
-
(1995)
N Engl J Med
, vol.332
, pp. 1594-1599
-
-
Key Jr., L.L.1
Rodriguiz, R.M.2
Willi, S.M.3
Wright, N.M.4
Hatcher, H.C.5
Eyre, D.R.6
Cure, J.K.7
Griffin, P.P.8
Ries, W.L.9
-
13
-
-
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, Giliani S, Abinun M, Mattsson JP, Keeling DJ, Andersson AK, Wallbrandt P, Zecca L, Notarangelo LD, Vezzoni P, Villa A (2000) Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet 25:343-346
-
(2000)
Nat Genet
, vol.25
, pp. 343-346
-
-
Frattini, A.1
Orchard, P.J.2
Sobacchi, C.3
Giliani, S.4
Abinun, M.5
Mattsson, J.P.6
Keeling, D.J.7
Andersson, A.K.8
Wallbrandt, P.9
Zecca, L.10
Notarangelo, L.D.11
Vezzoni, P.12
Villa, A.13
-
14
-
-
0034641590
-
Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis
-
Kornak U, Schulz A, Friedrich W, Uhlhaas S, Kremens B, Voit T, Hasan C, Bode U, Jentsch TJ, Kubisch C (2000) Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis. Hum Mol Genet 9:2059-2063
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2059-2063
-
-
Kornak, U.1
Schulz, A.2
Friedrich, W.3
Uhlhaas, S.4
Kremens, B.5
Voit, T.6
Hasan, C.7
Bode, U.8
Jentsch, T.J.9
Kubisch, C.10
-
15
-
-
0035880417
-
The mutational spectrum of human malignant autosomal recessive osteopetrosis
-
Sobacchi C, Frattini A, Orchard P, Porras O, Tezcan I, Andolina M, Babul-Hirji R, Baric I, Canham N, Chitayat D, Dupuis-Girod S, Ellis I, Etzioni A, Fasth A, Fisher A, Gerritsen B, Gulino V, Horwitz E, Klamroth V, Lanino E, Mirolo M, Musio A, Matthijs G, Nonomaya S Notarangelo LD, Ochs HD, Superti Furga A, Valiaho J, van Hove JL, Vihinen M, Vujic D, Vezzoni P, Villa A (2001) The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet 10:1767-1773
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1767-1773
-
-
Sobacchi, C.1
Frattini, A.2
Orchard, P.3
Porras, O.4
Tezcan, I.5
Andolina, M.6
Babul-Hirji, R.7
Baric, I.8
Canham, N.9
Chitayat, D.10
Dupuis-Girod, S.11
Ellis, I.12
Etzioni, A.13
Fasth, A.14
Fisher, A.15
Gerritsen, B.16
Gulino, V.17
Horwitz, E.18
Klamroth, V.19
Lanino, E.20
Mirolo, M.21
Musio, A.22
Matthijs, G.23
Nonomaya, S.24
Notarangelo, L.D.25
Ochs, H.D.26
Superti Furga, A.27
Valiaho, J.28
Van Hove, J.L.29
Vihinen, M.30
Vujic, D.31
Vezzoni, P.32
Villa, A.33
more..
-
16
-
-
0036169599
-
Novel mutations in the a3 subunit of vacuolar H(+)-adenosine triphosphatase in a Japanese patient with infantile malignant osteopetrosis
-
Michigami T, Kageyama T, Satomura K, Shima M, Yamaoka K, Nakayama M, Ozono K (2002) Novel mutations in the a3 subunit of vacuolar H(+)-adenosine triphosphatase in a Japanese patient with infantile malignant osteopetrosis. Bone 30:436-439
-
(2002)
Bone
, vol.30
, pp. 436-439
-
-
Michigami, T.1
Kageyama, T.2
Satomura, K.3
Shima, M.4
Yamaoka, K.5
Nakayama, M.6
Ozono, K.7
-
17
-
-
0037222822
-
Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis
-
Taranta A, Migliaccio S, Recchia I, Caniglia M, Luciani M, De Rossi G, Dionisi-Vici C, Pinto RM, Francalanci P, Boldrini R, Lanino E, Dini G, Morreale G, Ralston SH, Villa A, Vezzoni P, Del Principe D, Cassiani F, Palumbo G, Teti A (2003) Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis. Am J Pathol 162:57-68
-
(2003)
Am J Pathol
, vol.162
, pp. 57-68
-
-
Taranta, A.1
Migliaccio, S.2
Recchia, I.3
Caniglia, M.4
Luciani, M.5
De Rossi, G.6
Dionisi-Vici, C.7
Pinto, R.M.8
Francalanci, P.9
Boldrini, R.10
Lanino, E.11
Dini, G.12
Morreale, G.13
Ralston, S.H.14
Villa, A.15
Vezzoni, P.16
Del Principe, D.17
Cassiani, F.18
Palumbo, G.19
Teti, A.20
more..
-
18
-
-
0037265871
-
Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis
-
Scimeca JC, Quincey D, Parrinello H, Romatet D Grosgeorge J, Gaudray P, Philip N, Fischer A, Carle GF (2003) Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis. Hum Mutat 21:151-157
-
(2003)
Hum Mutat
, vol.21
, pp. 151-157
-
-
Scimeca, J.C.1
Quincey, D.2
Parrinello, H.3
Romatet, D.4
Grosgeorge, J.5
Gaudray, P.6
Philip, N.7
Fischer, A.8
Carle, G.F.9
-
19
-
-
16644400102
-
In vitro differentiation of CD14 cells from osteopetrotic subjects: Contrasting phenotypes with TCIRG1, CLCN7, and attachment defects
-
Blair HC, Borysenko CW, Villa A, Schlesinger PH, Kalla SE, Yaroslavskiy BB, Garcia-Palacios V, Oakley JI, Orchard PJ (2004) In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects. J Bone Miner Res 19:1329-1338
-
(2004)
J Bone Miner Res
, vol.19
, pp. 1329-1338
-
-
Blair, H.C.1
Borysenko, C.W.2
Villa, A.3
Schlesinger, P.H.4
Kalla, S.E.5
Yaroslavskiy, B.B.6
Garcia-Palacios, V.7
Oakley, J.I.8
Orchard, P.J.9
-
20
-
-
0035951282
-
Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man
-
Kornak U, Kasper D, Bosl MR, Kaiser E, Schweizer M, Schulz A, Friedrich W, Delling G, Jentsch TJ (2001) Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell 104:205-215
-
(2001)
Cell
, vol.104
, pp. 205-215
-
-
Kornak, U.1
Kasper, D.2
Bosl, M.R.3
Kaiser, E.4
Schweizer, M.5
Schulz, A.6
Friedrich, W.7
Delling, G.8
Jentsch, T.J.9
-
21
-
-
18244389008
-
Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene
-
Cleiren E, Benichou O, Van Hul E, Gram J, Bollerslev J, Singer FR, Beaverson K, Aledo A, Whyte MP, Yoneyama T, deVernejoul MC, Van Hul W (2001) Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet 10:2861-2867
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2861-2867
-
-
Cleiren, E.1
Benichou, O.2
Van Hul, E.3
Gram, J.4
Bollerslev, J.5
Singer, F.R.6
Beaverson, K.7
Aledo, A.8
Whyte, M.P.9
Yoneyama, T.10
DeVernejoul, M.C.11
Van Hul, W.12
-
22
-
-
10744229008
-
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis
-
Frattini A, Pangrazio A, Susani L, Sobacchi C, Mirolo M, Abinun M, Andolina M, Flanagan A, Horwitz EM, Mihci E, Notarangelo LD, Ramenghi U, Teti A, Van Hove J, Vujic D, Young T, Albertini A, Orchard PJ, Vezzoni P, Villa A (2003) Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. J Bone Miner Res 18:1740-1747
-
(2003)
J Bone Miner Res
, vol.18
, pp. 1740-1747
-
-
Frattini, A.1
Pangrazio, A.2
Susani, L.3
Sobacchi, C.4
Mirolo, M.5
Abinun, M.6
Andolina, M.7
Flanagan, A.8
Horwitz, E.M.9
Mihci, E.10
Notarangelo, L.D.11
Ramenghi, U.12
Teti, A.13
Van Hove, J.14
Vujic, D.15
Young, T.16
Albertini, A.17
Orchard, P.J.18
Vezzoni, P.19
Villa, A.20
more..
-
23
-
-
2542505380
-
Chloride channel CICN7 mutations in a Korean patient with infantile malignant osteopetrosis initially presenting with neonatal thrombocytopenia
-
Shin YJ (2004) Chloride channel CICN7 mutations in a Korean patient with infantile malignant osteopetrosis initially presenting with neonatal thrombocytopenia. J Perinatol 24:312-314
-
(2004)
J Perinatol
, vol.24
, pp. 312-314
-
-
Shin, Y.J.1
-
24
-
-
1942533447
-
Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type II
-
Henriksen K, Gram J, Schaller S, Dahl BH, Dziegiel MH, Bollerslev J, Karsdal MA (2004) Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type II. Am J Pathol 164:1537-1545
-
(2004)
Am J Pathol
, vol.164
, pp. 1537-1545
-
-
Henriksen, K.1
Gram, J.2
Schaller, S.3
Dahl, B.H.4
Dziegiel, M.H.5
Bollerslev, J.6
Karsdal, M.A.7
-
25
-
-
20144387287
-
Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration
-
Kasper D, Planells-Cases R, Fuhrmann JC, Scheel O, Zeitz O, Ruether K, Schmitt A, Poet M, Steinfeld R, Schweizer M, Kornak U, Jentsch TJ (2005) Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration. EMBO J 24:1079-1091
-
(2005)
EMBO J
, vol.24
, pp. 1079-1091
-
-
Kasper, D.1
Planells-Cases, R.2
Fuhrmann, J.C.3
Scheel, O.4
Zeitz, O.5
Ruether, K.6
Schmitt, A.7
Poet, M.8
Steinfeld, R.9
Schweizer, M.10
Kornak, U.11
Jentsch, T.J.12
-
26
-
-
0037393446
-
Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human
-
Chalhoub N, Benachenhou N, Rajapurohitam V, Pata M, Ferron M, Frattini A, Villa A, Vacher J (2003) Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. Nat Med 9:399-406
-
(2003)
Nat Med
, vol.9
, pp. 399-406
-
-
Chalhoub, N.1
Benachenhou, N.2
Rajapurohitam, V.3
Pata, M.4
Ferron, M.5
Frattini, A.6
Villa, A.7
Vacher, J.8
-
27
-
-
0035047413
-
The mouse osteopetrotic grey-lethal mutation induces a defect in osteoclast maturation/function
-
Rajapurohitam V, Chalhoub N, Benachenhou N, Neff L, Baron R, Vacher J (2001) The mouse osteopetrotic grey-lethal mutation induces a defect in osteoclast maturation/ function. Bone 28:513-523
-
(2001)
Bone
, vol.28
, pp. 513-523
-
-
Rajapurohitam, V.1
Chalhoub, N.2
Benachenhou, N.3
Neff, L.4
Baron, R.5
Vacher, J.6
-
28
-
-
0037478669
-
Promotion of G alpha i3 subunit down-regulation by GIPN, a putative E3 ubiquitin ligase that interacts with RGS-GAIP
-
USA
-
Fischer T, De Vries L, Meerloo T, Farquhar MG (2003) Promotion of G alpha i3 subunit down-regulation by GIPN, a putative E3 ubiquitin ligase that interacts with RGS-GAIP. Proc Natl Acad Sci USA 100:8270-8275
-
(2003)
Proc Natl Acad Sci
, vol.100
, pp. 8270-8275
-
-
Fischer, T.1
De Vries, L.2
Meerloo, T.3
Farquhar, M.G.4
-
29
-
-
2342632645
-
Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis
-
Ramirez A, Faupel J, Goebel I, Stiller A, Beyer S, Stockle C, Hasan C, Bode U, Kornak U, Kubisch C (2004) Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis. Hum Mutat 23:471-476
-
(2004)
Hum Mutat
, vol.23
, pp. 471-476
-
-
Ramirez, A.1
Faupel, J.2
Goebel, I.3
Stiller, A.4
Beyer, S.5
Stockle, C.6
Hasan, C.7
Bode, U.8
Kornak, U.9
Kubisch, C.10
-
30
-
-
16544384350
-
Severe malignant osteopetrosis caused by a GL gene mutation
-
Quarello P, Forni M, Barberis L, Defilippi C, Campagnoli MF, Silvestro L, Frattini A, Chalhoub N, Vacher J Ramenghi U (2004) Severe malignant osteopetrosis caused by a GL gene mutation. J Bone Miner Res 19:1194-1199
-
(2004)
J Bone Miner Res
, vol.19
, pp. 1194-1199
-
-
Quarello, P.1
Forni, M.2
Barberis, L.3
Defilippi, C.4
Campagnoli, M.F.5
Silvestro, L.6
Frattini, A.7
Chalhoub, N.8
Vacher, J.9
Ramenghi, U.10
-
31
-
-
17144463459
-
Mechanisms of osteoclast dysfunction in human osteopetrosis: Abnormal osteoclastogenesis and lack of osteoclast-specific adhesion structures
-
Teti A, Migliaccio S, Taranta A, Bernardini S, De Rossi G, Luciani M, Iacobini M, De Felice L, Boldrini R, Bosnian C, Corsi A, Bianco P (1999) Mechanisms of osteoclast dysfunction in human osteopetrosis: abnormal osteoclastogenesis and lack of osteoclast-specific adhesion structures. J Bone Miner Res 14:2107-2117
-
(1999)
J Bone Miner Res
, vol.14
, pp. 2107-2117
-
-
Teti, A.1
Migliaccio, S.2
Taranta, A.3
Bernardini, S.4
De Rossi, G.5
Luciani, M.6
Iacobini, M.7
De Felice, L.8
Boldrini, R.9
Bosnian, C.10
Corsi, A.11
Bianco, P.12
-
32
-
-
0033975778
-
Study of the nonresorptive phenotype of osteoclast-like cells from patients with malignant osteopetrosis: A new approach to investigating pathogenesis
-
Flanagan AM, Sarma U, Steward CG, Vellodi A, Horton MA (2000) Study of the nonresorptive phenotype of osteoclast-like cells from patients with malignant osteopetrosis: a new approach to investigating pathogenesis. J Bone Miner Res 15:352-360
-
(2000)
J Bone Miner Res
, vol.15
, pp. 352-360
-
-
Flanagan, A.M.1
Sarma, U.2
Steward, C.G.3
Vellodi, A.4
Horton, M.A.5
-
33
-
-
0035134408
-
Formation of non-resorbing osteoclasts from peripheral blood mononuclear cells of patients with malignant juvenile osteopetrosis
-
Helfrich MH, Gerritsen EJ (2001) Formation of non-resorbing osteoclasts from peripheral blood mononuclear cells of patients with malignant juvenile osteopetrosis. Br J Haematol 112:64-68
-
(2001)
Br J Haematol
, vol.112
, pp. 64-68
-
-
Helfrich, M.H.1
Gerritsen, E.J.2
-
34
-
-
0344748197
-
Report of a case of so-called "marble bones" with a review of the literature and a translation of an article
-
Alexander WG (1923) Report of a case of so-called "marble bones" with a review of the literature and a translation of an article. Am J Roentgenol 10:280-301
-
(1923)
Am J Roentgenol
, vol.10
, pp. 280-301
-
-
Alexander, W.G.1
-
36
-
-
0026906401
-
Recessive osteopetrosis Identification of a form of medium severity
-
Bejaoui M, Baraket M, Lakhoua R, Mezni F, Hammou Jeddi A, Kamoun A, Kharrat H, Essoussi S, Harbi A, Ben Dridi MF (1992) [Recessive osteopetrosis Identification of a form of medium severity]. Arch Fr Pediatr 49:627-631
-
(1992)
Arch Fr Pediatr
, vol.49
, pp. 627-631
-
-
Bejaoui, M.1
Baraket, M.2
Lakhoua, R.3
Mezni, F.4
Hammou Jeddi, A.5
Kamoun, A.6
Kharrat, H.7
Essoussi, S.8
Harbi, A.9
Ben Dridi, M.F.10
-
37
-
-
0027662076
-
Osteopetrosis: Report of 2 cases and review of the literature
-
Colonia AM, Schaimberg CG, Yoshinari NH, Santos M, Jorgetti V, Cossermelli W (1993) [Osteopetrosis: report of 2 cases and review of the literature]. Rev Hosp Clin Fac Med Sao Paulo 48:242-247
-
(1993)
Rev Hosp Clin Fac Med Sao Paulo
, vol.48
, pp. 242-247
-
-
Colonia, A.M.1
Schaimberg, C.G.2
Yoshinari, N.H.3
Santos, M.4
Jorgetti, V.5
Cossermelli, W.6
-
39
-
-
0037315475
-
Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis
-
Campos-Xavier AB, Saraiva JM, Ribeiro LM, Munnich A, Cormier-Daire V (2003) Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis. Hum Genet 112:186-189
-
(2003)
Hum Genet
, vol.112
, pp. 186-189
-
-
Campos-Xavier, A.B.1
Saraiva, J.M.2
Ribeiro, L.M.3
Munnich, A.4
Cormier-Daire, V.5
-
40
-
-
0023900049
-
Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis
-
Bollerslev J, Andersen PE, Jr (1988) Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. Bone 9:7-13
-
(1988)
Bone
, vol.9
, pp. 7-13
-
-
Bollerslev, J.1
Andersen Jr., P.E.2
-
41
-
-
0028804681
-
Centrifugal osteopetrosis: Appendicular sclerosis with relative sparing of the vertebrae
-
Kovacs CS, Lambert RG, Lavoie GJ, Siminoski K (1995) Centrifugal osteopetrosis: appendicular sclerosis with relative sparing of the vertebrae. Skeletal Radiol 24:27-29
-
(1995)
Skeletal Radiol
, vol.24
, pp. 27-29
-
-
Kovacs, C.S.1
Lambert, R.G.2
Lavoie, G.J.3
Siminoski, K.4
-
42
-
-
0014265074
-
Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form
-
Baltimore
-
Johnston CC Jr, Lavy N, Lord T, Vellios F, Merritt AD, Deiss WP Jr (1968) Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form. Medicine (Baltimore) 47:149-167
-
(1968)
Medicine
, vol.47
, pp. 149-167
-
-
Johnston Jr., C.C.1
Lavy, N.2
Lord, T.3
Vellios, F.4
Merritt, A.D.5
Deiss Jr., W.P.6
-
43
-
-
0023110184
-
Osteopetrosis. A genetic and epidemiological study
-
Bollerslev J (1987) Osteopetrosis. A genetic and epidemiological study. Clin Genet 31:86-90
-
(1987)
Clin Genet
, vol.31
, pp. 86-90
-
-
Bollerslev, J.1
-
44
-
-
0035999445
-
Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13
-
Van Hul E, Gram J, Bollerslev J, Van Wesenbeeck L, Mathysen D, Andersen PE, Vanhoenacker F, Van Hul W (2002) Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13. J Bone Miner Res 17:1111-1117
-
(2002)
J Bone Miner Res
, vol.17
, pp. 1111-1117
-
-
Van Hul, E.1
Gram, J.2
Bollerslev, J.3
Van Wesenbeeck, L.4
Mathysen, D.5
Andersen, P.E.6
Vanhoenacker, F.7
Van Hul, W.8
-
45
-
-
0037373341
-
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density
-
Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Benichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul MC, Bollerslev J, Van Hul W (2003) Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. Am J Hum Genet 72:763-771
-
(2003)
Am J Hum Genet
, vol.72
, pp. 763-771
-
-
Van Wesenbeeck, L.1
Cleiren, E.2
Gram, J.3
Beals, R.K.4
Benichou, O.5
Scopelliti, D.6
Key, L.7
Renton, T.8
Bartels, C.9
Gong, Y.10
Warman, M.L.11
De Vernejoul, M.C.12
Bollerslev, J.13
Van Hul, W.14
-
47
-
-
0036138175
-
A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait
-
Little RD, Carulli JP, Del Mastro RG, Dupuis J, Osborne M, Folz C, Manning SP, Swain PM, Zhao SC, Eustace B, Lappe MM, Spitzer L, Zweier S, Braunschweiger K, Benchekroun Y, Hu X, Adair R, Chee L, FitzGerald MG, Tulig C, Caruso A, Tzellas N, Bawa A, Franklin B, McGuire S, Nogues X, Gong G, Allen KM, Anisowicz A, Morales AJ, Lomedico PT, Recker SM, Van Eerdewegh P, Recker RR, Johnson ML (2002) A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. Am J Hum Genet 70:11-19
-
(2002)
Am J Hum Genet
, vol.70
, pp. 11-19
-
-
Little, R.D.1
Carulli, J.P.2
Del Mastro, R.G.3
Dupuis, J.4
Osborne, M.5
Folz, C.6
Manning, S.P.7
Swain, P.M.8
Zhao, S.C.9
Eustace, B.10
Lappe, M.M.11
Spitzer, L.12
Zweier, S.13
Braunschweiger, K.14
Benchekroun, Y.15
Hu, X.16
Adair, R.17
Chee, L.18
FitzGerald, M.G.19
Tulig, C.20
Caruso, A.21
Tzellas, N.22
Bawa, A.23
Franklin, B.24
McGuire, S.25
Nogues, X.26
Gong, G.27
Allen, K.M.28
Anisowicz, A.29
Morales, A.J.30
Lomedico, P.T.31
Recker, S.M.32
Van Eerdewegh, P.33
Recker, R.R.34
Johnson, M.L.35
more..
-
48
-
-
0037118285
-
High bone density due to a mutation in LDL-receptor-related protein 5
-
Boyden LM, Mao J, Belsky J, Mitzner L, Farhi A, Mitnick MA, Wu D, Insogna K, Lifton RP (2002) High bone density due to a mutation in LDL-receptor-related protein 5. N Engl J Med 346:1513-1521
-
(2002)
N Engl J Med
, vol.346
, pp. 1513-1521
-
-
Boyden, L.M.1
Mao, J.2
Belsky, J.3
Mitzner, L.4
Farhi, A.5
Mitnick, M.A.6
Wu, D.7
Insogna, K.8
Lifton, R.P.9
-
49
-
-
2342501793
-
High-bone-mass disease and LRP5
-
author's reply
-
Boyden LM, Insogna K, Lifton RP (2004) High-bone-mass disease and LRP5 (author's reply). N Engl J Med 350:2098-2099
-
(2004)
N Engl J Med
, vol.350
, pp. 2098-2099
-
-
Boyden, L.M.1
Insogna, K.2
Lifton, R.P.3
-
50
-
-
18044386744
-
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
-
Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GC, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B, De Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, Juppner H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert M, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML (2001) LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 107:513-523
-
(2001)
Cell
, vol.107
, pp. 513-523
-
-
Gong, Y.1
Slee, R.B.2
Fukai, N.3
Rawadi, G.4
Roman-Roman, S.5
Reginato, A.M.6
Wang, H.7
Cundy, T.8
Glorieux, F.H.9
Lev, D.10
Zacharin, M.11
Oexle, K.12
Marcelino, J.13
Suwairi, W.14
Heeger, S.15
Sabatakos, G.16
Apte, S.17
Adkins, W.N.18
Allgrove, J.19
Arslan-Kirchner, M.20
Batch, J.A.21
Beighton, P.22
Black, G.C.23
Boles, R.G.24
Boon, L.M.25
Borrone, C.26
Brunner, H.G.27
Carle, G.F.28
Dallapiccola, B.29
De Paepe, A.30
Floege, B.31
Halfhide, M.L.32
Hall, B.33
Hennekam, R.C.34
Hirose, T.35
Jans, A.36
Juppner, H.37
Kim, C.A.38
Keppler-Noreuil, K.39
Kohlschuetter, A.40
LaCombe, D.41
Lambert, M.42
Lemyre, E.43
Letteboer, T.44
Peltonen, L.45
Ramesar, R.S.46
Romanengo, M.47
Somer, H.48
Steichen-Gersdorf, E.49
Steinmann, B.50
Sullivan, B.51
Superti-Furga, A.52
Swoboda, W.53
Van Den Boogaard, M.J.54
Van Hul, W.55
Vikkula, M.56
Votruba, M.57
Zabel, B.58
Garcia, T.59
Baron, R.60
Olsen, B.R.61
Warman, M.L.62
more..
-
51
-
-
0024389809
-
Autosomal dominant osteopetrosis: Bone metabolism and epidemiological, clinical, and hormonal aspects
-
Bollerslev J (1989) Autosomal dominant osteopetrosis: bone metabolism and epidemiological, clinical, and hormonal aspects. Endocr Rev 10:45-67
-
(1989)
Endocr Rev
, vol.10
, pp. 45-67
-
-
Bollerslev, J.1
-
52
-
-
0027248560
-
Autosomal dominant osteopetrosis
-
Bollerslev J, Mosekilde L (1993) Autosomal dominant osteopetrosis. Clin Orthop (294):45-51
-
(1993)
Clin Orthop
, Issue.294
, pp. 45-51
-
-
Bollerslev, J.1
Mosekilde, L.2
-
53
-
-
0344578061
-
Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): Clinical and radiological manifestations in 42 patients
-
Benichou O, Laredo J, de Vernejoul MC (2000) Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): clinical and radiological manifestations in 42 patients. Bone 26:87-93
-
(2000)
Bone
, vol.26
, pp. 87-93
-
-
Benichou, O.1
Laredo, J.2
De Vernejoul, M.C.3
-
54
-
-
4243293879
-
Autosomal dominant osteopetrosis: Clinical severity and natural history
-
Waguespack SG, Buckwalter KA, Econs MJ (2000) Autosomal dominant osteopetrosis: clinical severity and natural history. J Bone Miner Res 15:S1; S578
-
(2000)
J Bone Miner Res
, vol.15
, Issue.S1
-
-
Waguespack, S.G.1
Buckwalter, K.A.2
Econs, M.J.3
-
55
-
-
0344942015
-
Osteopetrosis in successive generations
-
Thomson J (1949) Osteopetrosis in successive generations. Arch Dis Child 24:143-148
-
(1949)
Arch Dis Child
, vol.24
, pp. 143-148
-
-
Thomson, J.1
-
56
-
-
0025012444
-
Autosomal dominant osteopetrosis type II with "malignant" presentation: Further support for heterogeneity?
-
Walpole IR, Nicoll A, Goldblatt J (1990) Autosomal dominant osteopetrosis type II with "malignant" presentation: further support for heterogeneity? Clin Genet 38:257-263
-
(1990)
Clin Genet
, vol.38
, pp. 257-263
-
-
Walpole, I.R.1
Nicoll, A.2
Goldblatt, J.3
-
57
-
-
1942479149
-
Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II
-
Waguespack SG, Koller DL, White KE, Fishburn T, Carn G, Buckwalter KA, Johnson M, Kocisko M, Evans WE, Foroud T, Econs MJ (2003) Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II. J Bone Miner Res 18:1513-1518
-
(2003)
J Bone Miner Res
, vol.18
, pp. 1513-1518
-
-
Waguespack, S.G.1
Koller, D.L.2
White, K.E.3
Fishburn, T.4
Carn, G.5
Buckwalter, K.A.6
Johnson, M.7
Kocisko, M.8
Evans, W.E.9
Foroud, T.10
Econs, M.J.11
-
58
-
-
0842305693
-
Type II benign osteopetrosis (Albers-Schonberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations
-
Letizia C, Taranta A, Migliaccio S, Caliumi C, Diacinti D, Delfini E, D'Erasmo E, Iacobini M, Roggini M, Albagha OM, Ralston SH, Teti A (2004) Type II benign osteopetrosis (Albers-Schonberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations. Calcif Tissue Int 74:42-46
-
(2004)
Calcif Tissue Int
, vol.74
, pp. 42-46
-
-
Letizia, C.1
Taranta, A.2
Migliaccio, S.3
Caliumi, C.4
Diacinti, D.5
Delfini, E.6
D'Erasmo, E.7
Iacobini, M.8
Roggini, M.9
Albagha, O.M.10
Ralston, S.H.11
Teti, A.12
-
59
-
-
0036137583
-
Macrophage colony-stimulating factor and receptor activator NF-kappaB ligand fail to rescue osteoclast-poor human malignant infantile osteopetrosis in vitro
-
Flanagan AM, Massey HM, Wilson C, Vellodi A, Horton MA, Steward CG (2002) Macrophage colony-stimulating factor and receptor activator NF-kappaB ligand fail to rescue osteoclast-poor human malignant infantile osteopetrosis in vitro. Bone 30:85-90
-
(2002)
Bone
, vol.30
, pp. 85-90
-
-
Flanagan, A.M.1
Massey, H.M.2
Wilson, C.3
Vellodi, A.4
Horton, M.A.5
Steward, C.G.6
-
60
-
-
0025977879
-
Transient infantile osteopetrosis
-
Monaghan BA, Kaplan FS, August CS, Fallon MD, Flannery DB (1991) Transient infantile osteopetrosis. J Pediatr 118:252-256
-
(1991)
J Pediatr
, vol.118
, pp. 252-256
-
-
Monaghan, B.A.1
Kaplan, F.S.2
August, C.S.3
Fallon, M.D.4
Flannery, D.B.5
-
61
-
-
0027304956
-
Carbonic anhydrase II deficiency
-
Whyte MP (1993) Carbonic anhydrase II deficiency. Clin Orthop 294:52-63
-
(1993)
Clin Orthop
, vol.294
, pp. 52-63
-
-
Whyte, M.P.1
-
62
-
-
0025850291
-
Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis
-
Sly WS, Sato S, Zhu XL (1991) Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis. Clin Biochem 24:311-318
-
(1991)
Clin Biochem
, vol.24
, pp. 311-318
-
-
Sly, W.S.1
Sato, S.2
Zhu, X.L.3
-
63
-
-
0031900138
-
Clinical and molecular heterogeneity in carbonic anhydrase II deficiency and prenatal diagnosis in an Italian family
-
Strisciuglio P, Hu PY, Lim EJ, Ciccolella J, Sly WS (1998) Clinical and molecular heterogeneity in carbonic anhydrase II deficiency and prenatal diagnosis in an Italian family. J Pediatr 132:717-720
-
(1998)
J Pediatr
, vol.132
, pp. 717-720
-
-
Strisciuglio, P.1
Hu, P.Y.2
Lim, E.J.3
Ciccolella, J.4
Sly, W.S.5
-
64
-
-
15044355321
-
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation
-
Shah GN, Bonapace G, Hu PY, Strisciuglio P, Sly WS (2004) Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation. Hum Mutat 24:272
-
(2004)
Hum Mutat
, vol.24
, pp. 272
-
-
Shah, G.N.1
Bonapace, G.2
Hu, P.Y.3
Strisciuglio, P.4
Sly, W.S.5
-
65
-
-
0037326706
-
A phenocopy of CAII deficiency: A novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis
-
Borthwick KJ, Kandemir N, Topaloglu R, Kornak U, Bakkaloglu A, Yordam N, Ozen S, Mocan H, Shah GN, Sly WS, Karet FE (2003) A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. J Med Genet 40:115-121
-
(2003)
J Med Genet
, vol.40
, pp. 115-121
-
-
Borthwick, K.J.1
Kandemir, N.2
Topaloglu, R.3
Kornak, U.4
Bakkaloglu, A.5
Yordam, N.6
Ozen, S.7
Mocan, H.8
Shah, G.N.9
Sly, W.S.10
Karet, F.E.11
-
66
-
-
0037385299
-
Neurological aspects of osteopetrosis
-
Steward CG (2003) Neurological aspects of osteopetrosis. Neuropathol Appl Neurobiol 29:87-97
-
(2003)
Neuropathol Appl Neurobiol
, vol.29
, pp. 87-97
-
-
Steward, C.G.1
-
68
-
-
0023902937
-
The association of infantile osteopetrosis and neuronal storage disease in two brothers
-
Berl
-
Jagadha V, Halliday WC, Becker LE, Hinton D (1988) The association of infantile osteopetrosis and neuronal storage disease in two brothers. Acta Neuropathol (Berl) 75:233-240
-
(1988)
Acta Neuropathol
, vol.75
, pp. 233-240
-
-
Jagadha, V.1
Halliday, W.C.2
Becker, L.E.3
Hinton, D.4
-
69
-
-
0029070297
-
Association of infantile neuroaxonal dystrophy and osteopetrosis: A rare autosomal recessive disorder
-
Rees H, Ang LC, Casey R, George DH (1995) Association of infantile neuroaxonal dystrophy and osteopetrosis: a rare autosomal recessive disorder. Pediatr Neurosurg 22:321-327
-
(1995)
Pediatr Neurosurg
, vol.22
, pp. 321-327
-
-
Rees, H.1
Ang, L.C.2
Casey, R.3
George, D.H.4
-
72
-
-
0022461459
-
Lethal osteopetrosis with multiple fractures in utero
-
el Khazen N, Faverly D, Vamos E, Van Regemorter N, Flament-Durand J, Carton B, Cremer-Perlmutter N (1986) Lethal osteopetrosis with multiple fractures in utero. Am J Med Genet 23:811-819
-
(1986)
Am J Med Genet
, vol.23
, pp. 811-819
-
-
El Khazen, N.1
Faverly, D.2
Vamos, E.3
Van Regemorter, N.4
Flament-Durand, J.5
Carton, B.6
Cremer-Perlmutter, N.7
-
73
-
-
0035093630
-
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
-
Doffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia SH, Headon DJ, Overbeek PA, Le Deist F, Holland SM, Belani K, Kumararatne DS, Fischer A, Shapiro R, Conley ME, Reimund E, Kalhoff H, Abinun M, Munnich A, Israel A, Courtois G, Casanova JL (2001) X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet 27:277-285
-
(2001)
Nat Genet
, vol.27
, pp. 277-285
-
-
Doffinger, R.1
Smahi, A.2
Bessia, C.3
Geissmann, F.4
Feinberg, J.5
Durandy, A.6
Bodemer, C.7
Kenwrick, S.8
Dupuis-Girod, S.9
Blanche, S.10
Wood, P.11
Rabia, S.H.12
Headon, D.J.13
Overbeek, P.A.14
Le Deist, F.15
Holland, S.M.16
Belani, K.17
Kumararatne, D.S.18
Fischer, A.19
Shapiro, R.20
Conley, M.E.21
Reimund, E.22
Kalhoff, H.23
Abinun, M.24
Munnich, A.25
Israel, A.26
Courtois, G.27
Casanova, J.L.28
more..
-
74
-
-
0036599324
-
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother
-
Dupuis-Girod S, Corradini N, Hadj-Rabia S, Fournet JC, Faivre L, Le Deist F, Durand P, Doffinger R, Smahi A, Israel A, Courtois G, Brousse N, Blanche S, Munnich A, Fischer A, Casanova JL, Bodemer C (2002) Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Pediatrics 109:e97
-
(2002)
Pediatrics
, vol.109
-
-
Dupuis-Girod, S.1
Corradini, N.2
Hadj-Rabia, S.3
Fournet, J.C.4
Faivre, L.5
Le Deist, F.6
Durand, P.7
Doffinger, R.8
Smahi, A.9
Israel, A.10
Courtois, G.11
Brousse, N.12
Blanche, S.13
Munnich, A.14
Fischer, A.15
Casanova, J.L.16
Bodemer, C.17
-
75
-
-
0035281865
-
Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection
-
Mansour S, Woffendin H, Mitton S, Jeffery I, Jakins T, Kenwrick S, Murday VA (2001) Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. Am J Med Genet 99:172-177
-
(2001)
Am J Med Genet
, vol.99
, pp. 172-177
-
-
Mansour, S.1
Woffendin, H.2
Mitton, S.3
Jeffery, I.4
Jakins, T.5
Kenwrick, S.6
Murday, V.A.7
-
76
-
-
0036771830
-
The NF-kappaB signalling pathway in human diseases: From incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes
-
Smahi A, Courtois G, Rabia SH, Doffinger R, Bodemer C, Munnich A, Casanova JL, Israel A (2002) The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet 11:2371-2375
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2371-2375
-
-
Smahi, A.1
Courtois, G.2
Rabia, S.H.3
Doffinger, R.4
Bodemer, C.5
Munnich, A.6
Casanova, J.L.7
Israel, A.8
-
77
-
-
0037938844
-
Osteopetrosis and Glanzmann's thrombasthenia in a child
-
Yarali N, Fisgin T, Duru F, Kara A (2003) Osteopetrosis and Glanzmann's thrombasthenia in a child. Ann Hematol 82:254-256
-
(2003)
Ann Hematol
, vol.82
, pp. 254-256
-
-
Yarali, N.1
Fisgin, T.2
Duru, F.3
Kara, A.4
-
78
-
-
0036849578
-
Glanzmann's thrombasthenia: Updated
-
Nair S, Ghosh K, Kulkarni B, Shetty S, Mohanty D (2002) Glanzmann's thrombasthenia: updated. Platelets 13:387-393
-
(2002)
Platelets
, vol.13
, pp. 387-393
-
-
Nair, S.1
Ghosh, K.2
Kulkarni, B.3
Shetty, S.4
Mohanty, D.5
-
79
-
-
0033621890
-
Mice lacking beta3 integrins are osteosclerotic because of dysfunctional osteoclasts
-
McHugh KP, Hodivala-Dilke K, Zheng MH, Namba N, Lam J, Novack D, Feng X, Ross FP, Hynes RO, Teitelbaum SL (2000) Mice lacking beta3 integrins are osteosclerotic because of dysfunctional osteoclasts. J Clin Invest 105:433-440
-
(2000)
J Clin Invest
, vol.105
, pp. 433-440
-
-
McHugh, K.P.1
Hodivala-Dilke, K.2
Zheng, M.H.3
Namba, N.4
Lam, J.5
Novack, D.6
Feng, X.7
Ross, F.P.8
Hynes, R.O.9
Teitelbaum, S.L.10
-
80
-
-
0141651720
-
Upregulation of osteoclast alpha2beta1 integrin compensates for lack of alphavbeta3 vitronectin receptor in Iraqi-Jewish-type Glanzmann thrombasthenia
-
Horton MA, Massey HM, Rosenberg N, Nicholls B, Seligsohn U, Flanagan AM (2003) Upregulation of osteoclast alpha2beta1 integrin compensates for lack of alphavbeta3 vitronectin receptor in Iraqi-Jewish-type Glanzmann thrombasthenia. Br J Haematol 122:950-957
-
(2003)
Br J Haematol
, vol.122
, pp. 950-957
-
-
Horton, M.A.1
Massey, H.M.2
Rosenberg, N.3
Nicholls, B.4
Seligsohn, U.5
Flanagan, A.M.6
-
81
-
-
0023627006
-
Syndrome of osteopetrosis and muscular degeneration associated with cerebro-oculo-facio-skeletal changes
-
Lerman-Sagie T, Levi Y, Kidron D, Grunebaum M, Nitzan M (1987) Syndrome of osteopetrosis and muscular degeneration associated with cerebro-oculo-facio- skeletal changes. Am J Med Genet 28:137-142
-
(1987)
Am J Med Genet
, vol.28
, pp. 137-142
-
-
Lerman-Sagie, T.1
Levi, Y.2
Kidron, D.3
Grunebaum, M.4
Nitzan, M.5
-
82
-
-
0035679461
-
Association of severe autosomal recessive osteopetrosis and Dandy-Walker syndrome with agenesis of the corpus callosum
-
Ben Hamouda H, Sfar MN, Braham R, Ben Salah M, Ayadi A, Soua H, Hamza H, Sfar MT (2001) Association of severe autosomal recessive osteopetrosis and Dandy-Walker syndrome with agenesis of the corpus callosum. Acta Orthop Belg 67:528-532
-
(2001)
Acta Orthop Belg
, vol.67
, pp. 528-532
-
-
Ben Hamouda, H.1
Sfar, M.N.2
Braham, R.3
Ben Salah, M.4
Ayadi, A.5
Soua, H.6
Hamza, H.7
Sfar, M.T.8
-
83
-
-
0032897309
-
Association of intermediate osteopetrosis with poikiloderma
-
Migliaccio S, Luciani M, Taranta A, De Rossi G, Minisola S, El Hachem M, Bosnian C, De Felice L, Boldrini R, Corsi A, Bianco P, Teti A (1999) Association of intermediate osteopetrosis with poikiloderma. J Bone Miner Res 14:834-836
-
(1999)
J Bone Miner Res
, vol.14
, pp. 834-836
-
-
Migliaccio, S.1
Luciani, M.2
Taranta, A.3
De Rossi, G.4
Minisola, S.5
El Hachem, M.6
Bosnian, C.7
De Felice, L.8
Boldrini, R.9
Corsi, A.10
Bianco, P.11
Teti, A.12
-
84
-
-
0022416252
-
Craniofacial abnormalities in osteopetrosis with precocious manifestations: Report of a case with serial cephalometric roentgenograms
-
Friede H, Manaligod JR, Rosenthal IM (1985) Craniofacial abnormalities in osteopetrosis with precocious manifestations: report of a case with serial cephalometric roentgenograms. J Craniofac Genet Dev Biol 5:247-257
-
(1985)
J Craniofac Genet Dev Biol
, vol.5
, pp. 247-257
-
-
Friede, H.1
Manaligod, J.R.2
Rosenthal, I.M.3
-
85
-
-
85026144368
-
Surgical correction of craniosynostosis in malignant osteopetrosis
-
Krimmel M, Niemann G, Will B, Reinert S (2004) Surgical correction of craniosynostosis in malignant osteopetrosis. J Craniofac Surg 15:218-220; discussion 221
-
(2004)
J Craniofac Surg
, vol.15
, pp. 218-220
-
-
Krimmel, M.1
Niemann, G.2
Will, B.3
Reinert, S.4
-
86
-
-
24644501631
-
Lessons from osteopetrotic mutations in animals: Impact on our current understanding of osteoclast biology
-
in press
-
Van Wesenbeeck L, Van Hul W Lessons from osteopetrotic mutations in animals: impact on our current understanding of osteoclast biology. Crit Rev Eukaryot Gene Expr in press
-
Crit Rev Eukaryot Gene Expr
-
-
Van Wesenbeeck, L.1
Van Hul, W.2
-
87
-
-
0035990969
-
Pycnodysostosis: Role and regulation of cathepsin K in osteoclast function and human disease
-
Motyckova G, Fisher DE (2002) Pycnodysostosis: role and regulation of cathepsin K in osteoclast function and human disease. Curr Mol Med 2:407-421
-
(2002)
Curr Mol Med
, vol.2
, pp. 407-421
-
-
Motyckova, G.1
Fisher, D.E.2
-
88
-
-
0029809357
-
Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency
-
Gelb BD, Shi GP, Chapman HA, Desnick RJ (1996) Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 273:1236-1238
-
(1996)
Science
, vol.273
, pp. 1236-1238
-
-
Gelb, B.D.1
Shi, G.P.2
Chapman, H.A.3
Desnick, R.J.4
-
89
-
-
4444306858
-
The IkappaB kinase (IKK) inhibitor, NEMO-binding domain peptide, blocks osteoclastogenesis and bone erosion in inflammatory arthritis
-
Dai S, Hirayama T, Abbas S, Abu-Amer Y (2004) The IkappaB kinase (IKK) inhibitor, NEMO-binding domain peptide, blocks osteoclastogenesis and bone erosion in inflammatory arthritis. J Biol Chem 279:37219-37222
-
(2004)
J Biol Chem
, vol.279
, pp. 37219-37222
-
-
Dai, S.1
Hirayama, T.2
Abbas, S.3
Abu-Amer, Y.4
-
90
-
-
0027752423
-
Ultrastructural investigations of bone resorptive cells in two types of autosomal dominant osteopetrosis
-
Bollerslev J, Marks SC,Jr., Pockwinse S, Kassem M, Brixen K, Steiniche T, Mosekilde L (1993) Ultrastructural investigations of bone resorptive cells in two types of autosomal dominant osteopetrosis. Bone 14:865-869
-
(1993)
Bone
, vol.14
, pp. 865-869
-
-
Bollerslev, J.1
Marks Jr., S.C.2
Pockwinse, S.3
Kassem, M.4
Brixen, K.5
Steiniche, T.6
Mosekilde, L.7
-
91
-
-
16644399496
-
Secreted frizzled-related protein-1 inhibits RANKL-dependent osteoclast formation
-
Hausler KD, Horwood NJ, Chuman Y, Fisher JL, Ellis J, Martin TJ, Rubin JS, Gillespie MT (2004) Secreted frizzled-related protein-1 inhibits RANKL-dependent osteoclast formation. J Bone Miner Res 19:1873-1881
-
(2004)
J Bone Miner Res
, vol.19
, pp. 1873-1881
-
-
Hausler, K.D.1
Horwood, N.J.2
Chuman, Y.3
Fisher, J.L.4
Ellis, J.5
Martin, T.J.6
Rubin, J.S.7
Gillespie, M.T.8
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