-
1
-
-
9644298890
-
Chondrodysplasias: General concepts and diagnostic and management considerations
-
Royce PM, Steinmann B, eds., New York: Wiley-Liss
-
Horton WA, Hecht JT 2002 Chondrodysplasias: general concepts and diagnostic and management considerations. In: Royce PM, Steinmann B, eds. Connective tissue and its heritable disorders: molecular, genetic, and medical aspects. 2nd ed, New York: Wiley-Liss; 901-909
-
(2002)
Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects. 2nd Ed.
, pp. 901-909
-
-
Horton, W.A.1
Hecht, J.T.2
-
5
-
-
0003436550
-
-
Baltimore, MD: McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University, and Bethesda, MD: National Center for Biotechnology Information, National Library of Medicine
-
McKusick VA 2000 Online Mendelian inheritance in man, OMIM. Baltimore, MD: McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University, and Bethesda, MD: National Center for Biotechnology Information, National Library of Medicine
-
(2000)
Online Mendelian Inheritance in Man, OMIM
-
-
McKusick, V.A.1
-
7
-
-
0032931210
-
Prior knowledge of obstetric gestational age and possible bias of Ballard score
-
Smith LN, Dayal VH, Monga M 1999 Prior knowledge of obstetric gestational age and possible bias of Ballard score. Obstet Gynecol 93:712-714
-
(1999)
Obstet Gynecol
, vol.93
, pp. 712-714
-
-
Smith, L.N.1
Dayal, V.H.2
Monga, M.3
-
8
-
-
0032787786
-
Polycystic bone disease: A new, autosomal dominant disorder
-
Whyte MP, Eddy MC, Podgornik MN, McAlister WH 1999 Polycystic bone disease: a new, autosomal dominant disorder. J Bone Miner Res 14:1261-1271
-
(1999)
J Bone Miner Res
, vol.14
, pp. 1261-1271
-
-
Whyte, M.P.1
Eddy, M.C.2
Podgornik, M.N.3
McAlister, W.H.4
-
9
-
-
0001551832
-
Hypophosphatasia
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New-York: McGraw-Hill
-
Whyte MP 2001 Hypophosphatasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 8th ed. New-York: McGraw-Hill; 5313-5329
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease. 8th Ed.
, pp. 5313-5329
-
-
Whyte, M.P.1
-
10
-
-
0021811803
-
Markedly increased circulating pyridoxal-5′-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism
-
Whyte MP, Mahuren JD, Vrabel LA, Coburn SP 1985 Markedly increased circulating pyridoxal-5′-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism. J Clin Invest 76:752-756
-
(1985)
J Clin Invest
, vol.76
, pp. 752-756
-
-
Whyte, M.P.1
Mahuren, J.D.2
Vrabel, L.A.3
Coburn, S.P.4
-
11
-
-
0036353341
-
Denaturing gradient gel electrophoresis analysis of the tissue non-specific alkaline phosphatase isoenzyme gene in hypophosphatasia
-
Mumm S, Jones J, Finnegan P, Henthorn P, Podgornik MN, Whyte MP 2002 Denaturing gradient gel electrophoresis analysis of the tissue non-specific alkaline phosphatase isoenzyme gene in hypophosphatasia. Mol Genet Metab 75:143-153
-
(2002)
Mol Genet Metab
, vol.75
, pp. 143-153
-
-
Mumm, S.1
Jones, J.2
Finnegan, P.3
Henthorn, P.4
Podgornik, M.N.5
Whyte, M.P.6
-
12
-
-
0033365108
-
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia
-
Quack I, Vonderstrass B, Stock M, Aylsworth AS, Becker A, Brueton L, Lee PJ, Majewski F, Mulliken JB, Suri M, Zenker M, Mundlos S, Otto F 1999 Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. Am J Hum Genet 65:1268-1278
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1268-1278
-
-
Quack, I.1
Vonderstrass, B.2
Stock, M.3
Aylsworth, A.S.4
Becker, A.5
Brueton, L.6
Lee, P.J.7
Majewski, F.8
Mulliken, J.B.9
Suri, M.10
Zenker, M.11
Mundlos, S.12
Otto, F.13
-
13
-
-
0033622171
-
PEBP2αA/CBFA1 mutations in Japanese cleidocranial dysplasia patients
-
Zhang YW, Yasui N, Kakazu N, Abe T, Takada K, Imai S, Sato M, Nomura S, Ochi T, Okuzumi S, Nogami H, Nagai T, Ohashi H, Ito Y 2000 PEBP2αA/CBFA1 mutations in Japanese cleidocranial dysplasia patients. Gene 244:21-28
-
(2000)
Gene
, vol.244
, pp. 21-28
-
-
Zhang, Y.W.1
Yasui, N.2
Kakazu, N.3
Abe, T.4
Takada, K.5
Imai, S.6
Sato, M.7
Nomura, S.8
Ochi, T.9
Okuzumi, S.10
Nogami, H.11
Nagai, T.12
Ohashi, H.13
Ito, Y.14
-
14
-
-
0032479379
-
Genomic structure and isoform expression of the mouse, rat and human Cbfa1/Osf2 transcription factor
-
Xiao ZS, Thomas R, Hinson TK, Quarles LD 1998 Genomic structure and isoform expression of the mouse, rat and human Cbfa1/Osf2 transcription factor. Gene 214:187-197
-
(1998)
Gene
, vol.214
, pp. 187-197
-
-
Xiao, Z.S.1
Thomas, R.2
Hinson, T.K.3
Quarles, L.D.4
-
15
-
-
0142029486
-
Transcriptional regulation of the human Runx2/Cbfa1 gene promoter by bone morphogenetic protein-7
-
Tou L, Quibria N, Alexander JM 2003 Transcriptional regulation of the human Runx2/Cbfa1 gene promoter by bone morphogenetic protein-7. Mol Cell Endocrinol 205:121-129
-
(2003)
Mol Cell Endocrinol
, vol.205
, pp. 121-129
-
-
Tou, L.1
Quibria, N.2
Alexander, J.M.3
-
16
-
-
0027337157
-
A homoallelic Gly317->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites
-
Greenberg CR, Taylor CL, Haworth JC, Seargeant LE, Philipps S, Triggs-Raine B, Chodirker BN 1993 A homoallelic Gly317->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites. Genomics 17:215-217
-
(1993)
Genomics
, vol.17
, pp. 215-217
-
-
Greenberg, C.R.1
Taylor, C.L.2
Haworth, J.C.3
Seargeant, L.E.4
Philipps, S.5
Triggs-Raine, B.6
Chodirker, B.N.7
-
17
-
-
0026713191
-
Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia
-
Henthorn PS, Raducha M, Fedde KN, Lafferty MA, Whyte MP 1992 Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc Natl Acad Sci USA 89:9924-9928
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 9924-9928
-
-
Henthorn, P.S.1
Raducha, M.2
Fedde, K.N.3
Lafferty, M.A.4
Whyte, M.P.5
-
18
-
-
0000791302
-
Hypophosphatasia: Nature's window on alkaline phosphatase function in man
-
Bilezikian JP, Raisz LG, Rodan GA, eds. San Diego: Academic Press
-
Whyte MP 2002 Hypophosphatasia: nature's window on alkaline phosphatase function in man. In: Bilezikian JP, Raisz LG, Rodan GA, eds. Principles of bone biology. 2nd ed. San Diego: Academic Press; 1229-1248
-
(2002)
Principles of Bone Biology. 2nd Ed.
, pp. 1229-1248
-
-
Whyte, M.P.1
-
19
-
-
0027930471
-
Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization
-
Whyte MP 1994 Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr Rev 15:439-461
-
(1994)
Endocr Rev
, vol.15
, pp. 439-461
-
-
Whyte, M.P.1
-
20
-
-
17144444743
-
Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene
-
Spentchian M, Merrien Y, Herasse M, Dobbie Z, Glaser D, Holder SE, Ivarsson SA, Kostiner D, Mansour S, Norman A, Roth J, Stipoljev F, Taillemite JL, van der Smagt JJ, Serre JL, Simon-Bouy B, Taillandier A, Mornet E 2003 Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene. Hum Mutat 22:105-106
-
(2003)
Hum Mutat
, vol.22
, pp. 105-106
-
-
Spentchian, M.1
Merrien, Y.2
Herasse, M.3
Dobbie, Z.4
Glaser, D.5
Holder, S.E.6
Ivarsson, S.A.7
Kostiner, D.8
Mansour, S.9
Norman, A.10
Roth, J.11
Stipoljev, F.12
Taillemite, J.L.13
Van Der Smagt, J.J.14
Serre, J.L.15
Simon-Bouy, B.16
Taillandier, A.17
Mornet, E.18
-
22
-
-
0037047051
-
Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization
-
Hessle L, Johnson KA, Anderson HC, Narisawa S, Sali A, Goding JW, Terkeltaub R, Millan JL 2002 Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization. Proc Natl Acad Sci USA 99:9445-9449
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 9445-9449
-
-
Hessle, L.1
Johnson, K.A.2
Anderson, H.C.3
Narisawa, S.4
Sali, A.5
Goding, J.W.6
Terkeltaub, R.7
Millan, J.L.8
-
23
-
-
0025856050
-
Hypophosphatasia and the extracellular metabolism of inorganic pyrophosphate: Clinical and laboratory aspects
-
Caswell AM, Whyte MP, Russell RG 1991 Hypophosphatasia and the extracellular metabolism of inorganic pyrophosphate: clinical and laboratory aspects. Crit Rev Clin Lab Sci 28:175-232
-
(1991)
Crit Rev Clin Lab Sci
, vol.28
, pp. 175-232
-
-
Caswell, A.M.1
Whyte, M.P.2
Russell, R.G.3
-
24
-
-
0026053143
-
Perinatal lethal hypophosphatasia: Clinical, radiologic and morphologic findings
-
Shohat M, Rimoin DL, Gruber HE, Lachman RS 1991 Perinatal lethal hypophosphatasia: clinical, radiologic and morphologic findings. Pediatr Radiol 21:421-427
-
(1991)
Pediatr Radiol
, vol.21
, pp. 421-427
-
-
Shohat, M.1
Rimoin, D.L.2
Gruber, H.E.3
Lachman, R.S.4
-
26
-
-
7344231904
-
"Spur-limbed" dwarfism identified as hypophosphatasia
-
Whyte MP 1988 "Spur-limbed" dwarfism identified as hypophosphatasia. Dysmorphol Clin Genet 2:126-127
-
(1988)
Dysmorphol Clin Genet
, vol.2
, pp. 126-127
-
-
Whyte, M.P.1
-
27
-
-
0033615462
-
Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: Bent but not broken
-
Pauli RM, Modaff P, Sipes SL, Whyte MP 1999 Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken. Am J Med Genet 86:434-438
-
(1999)
Am J Med Genet
, vol.86
, pp. 434-438
-
-
Pauli, R.M.1
Modaff, P.2
Sipes, S.L.3
Whyte, M.P.4
-
28
-
-
0033048965
-
Cleidocranial dysplasia: Clinical and molecular genetics
-
Mundlos S 1999 Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet 36:177-182
-
(1999)
J Med Genet
, vol.36
, pp. 177-182
-
-
Mundlos, S.1
-
30
-
-
0002568259
-
Cleidocranial dysplasia: A natural history study including evaluation of a five generation family
-
Abstract
-
Moore CA, Ayangade G, Okolo P, Bull MJ, Whyte MP, Bixler D 1992 Cleidocranial dysplasia: a natural history study including evaluation of a five generation family. Proc Greenwood Genetic Center 11:91 (Abstract)
-
(1992)
Proc Greenwood Genetic Center
, vol.11
, pp. 91
-
-
Moore, C.A.1
Ayangade, G.2
Okolo, P.3
Bull, M.J.4
Whyte, M.P.5
Bixler, D.6
-
31
-
-
14044257979
-
Respiratory failure in cleidocranial dysplasia - A rare finding in a known disorder
-
Abstract
-
Bull MJ, Weaver DD, Bender H, White R 1992 Respiratory failure in cleidocranial dysplasia - a rare finding in a known disorder. Proc Greenwood Genetic Center 11:107-108 (Abstract)
-
(1992)
Proc Greenwood Genetic Center
, vol.11
, pp. 107-108
-
-
Bull, M.J.1
Weaver, D.D.2
Bender, H.3
White, R.4
-
32
-
-
0036460377
-
Severe cleidocranial dysplasia can mimic hypophosphatasia
-
Unger S, Mornet E, Mundlos S, Blaser S, Cole DE 2002 Severe cleidocranial dysplasia can mimic hypophosphatasia. Eur J Pediatr 161:623-626
-
(2002)
Eur J Pediatr
, vol.161
, pp. 623-626
-
-
Unger, S.1
Mornet, E.2
Mundlos, S.3
Blaser, S.4
Cole, D.E.5
-
33
-
-
0036460419
-
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia
-
Morava E, Karteszi J, Weisenbach J, Caliebe A, Mundlos S, Mehes K 2002 Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. Eur J Pediatr 161:619-622
-
(2002)
Eur J Pediatr
, vol.161
, pp. 619-622
-
-
Morava, E.1
Karteszi, J.2
Weisenbach, J.3
Caliebe, A.4
Mundlos, S.5
Mehes, K.6
-
34
-
-
0023690329
-
Lethal osteogenesis imperfecta: Abnormal collagen metabolism and biochemical characteristics of hypophosphatasia
-
Royce PM, Blumberg A, Zurbrugg RP, Zimmermann A, Colombo JP, Steinmann B 1988 Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasia. Eur J Pediatr 147:626-631
-
(1988)
Eur J Pediatr
, vol.147
, pp. 626-631
-
-
Royce, P.M.1
Blumberg, A.2
Zurbrugg, R.P.3
Zimmermann, A.4
Colombo, J.P.5
Steinmann, B.6
-
35
-
-
0032106912
-
Cleidocranial dysplasia with neonatal death due to central nervous system injury in utero: Case report and literature review
-
Oyer CE, Tatevosyants NG, Cortez SC, Hornstein A, Wallach M 1998 Cleidocranial dysplasia with neonatal death due to central nervous system injury in utero: case report and literature review. Pediatr Dev Pathol 1:314-318
-
(1998)
Pediatr Dev Pathol
, vol.1
, pp. 314-318
-
-
Oyer, C.E.1
Tatevosyants, N.G.2
Cortez, S.C.3
Hornstein, A.4
Wallach, M.5
-
36
-
-
0026601491
-
Intrafamilial variability in cleidocranial dysplasia: A three generation family
-
Chitayat D, Hodgkinson, Azouz EM 1992 Intrafamilial variability in cleidocranial dysplasia: a three generation family. Am J Med Genet 42:298-303
-
(1992)
Am J Med Genet
, vol.42
, pp. 298-303
-
-
Chitayat, D.1
Hodgkinson2
Azouz, E.M.3
-
37
-
-
0028891018
-
Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family
-
Mundlos S, Mulliken JB, Abramson DL, Warman ML, Knoll JH, Olsen BR 1995 Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family. Hum Mol Genet 4:71-75
-
(1995)
Hum Mol Genet
, vol.4
, pp. 71-75
-
-
Mundlos, S.1
Mulliken, J.B.2
Abramson, D.L.3
Warman, M.L.4
Knoll, J.H.5
Olsen, B.R.6
-
38
-
-
0028928382
-
A gene for cleidocranial dysplasia maps to the short arm of chromosome 6
-
Feldman GJ, Robin NH, Brueton LA, Robertson E, Thompson EM, Siegel-Bartelt J, Gasser DL, Bailey LC, Zackai EH, Muenke M 1995 A gene for cleidocranial dysplasia maps to the short arm of chromosome 6. Am J Hum Genet 56:938-943
-
(1995)
Am J Hum Genet
, vol.56
, pp. 938-943
-
-
Feldman, G.J.1
Robin, N.H.2
Brueton, L.A.3
Robertson, E.4
Thompson, E.M.5
Siegel-Bartelt, J.6
Gasser, D.L.7
Bailey, L.C.8
Zackai, E.H.9
Muenke, M.10
-
39
-
-
0029653567
-
Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion
-
Gelb BD, Cooper E, Shevell M, Desnick RJ 1995 Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion. Am J Med Genet 58:200-205
-
(1995)
Am J Med Genet
, vol.58
, pp. 200-205
-
-
Gelb, B.D.1
Cooper, E.2
Shevell, M.3
Desnick, R.J.4
-
40
-
-
15444351110
-
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
-
Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Cole WG, Henn W, Knoll JH, Owen MJ, Mertelsmann R, Zabel BU, Olsen BR 1997 Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 89:773-779
-
(1997)
Cell
, vol.89
, pp. 773-779
-
-
Mundlos, S.1
Otto, F.2
Mundlos, C.3
Mulliken, J.B.4
Aylsworth, A.S.5
Albright, S.6
Lindhout, D.7
Cole, W.G.8
Henn, W.9
Knoll, J.H.10
Owen, M.J.11
Mertelsmann, R.12
Zabel, B.U.13
Olsen, B.R.14
-
41
-
-
0030927622
-
Missense mutations abolishing DNA binding of the osteoblasr-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia
-
Lee B, Thirunavukkarasu K, Zhou L, Pastore L, Baldini A, Hecht J, Geoffroy V, Ducy P, Karsenty G 1997 Missense mutations abolishing DNA binding of the osteoblasr-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. Nat Genet 16:307-310
-
(1997)
Nat Genet
, vol.16
, pp. 307-310
-
-
Lee, B.1
Thirunavukkarasu, K.2
Zhou, L.3
Pastore, L.4
Baldini, A.5
Hecht, J.6
Geoffroy, V.7
Ducy, P.8
Karsenty, G.9
-
42
-
-
0032718003
-
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia
-
Zhou G, Chen Y, Zhou L, Thirunavukkarasu K, Hecht J, Chitayat D, Gelb BD, Pirinen S, Berry SA, Greenberg CR, Karsenty G, Lee B 1999 CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. Hum Mol Genet 8:2311-2316
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2311-2316
-
-
Zhou, G.1
Chen, Y.2
Zhou, L.3
Thirunavukkarasu, K.4
Hecht, J.5
Chitayat, D.6
Gelb, B.D.7
Pirinen, S.8
Berry, S.A.9
Greenberg, C.R.10
Karsenty, G.11
Lee, B.12
-
43
-
-
0030951349
-
Sibs with cleidocranial dysplasia born to normal parents: Germ line mosaicism?
-
Zackai EH, Robin NH, McDonald-McGinn DM 1997 Sibs with cleidocranial dysplasia born to normal parents: germ line mosaicism? Am J Med Genet 69:348-351
-
(1997)
Am J Med Genet
, vol.69
, pp. 348-351
-
-
Zackai, E.H.1
Robin, N.H.2
McDonald-McGinn, D.M.3
-
44
-
-
0030684749
-
Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts
-
Komori T, Yagi H, Nomura S, Yamaguchi A, Sasaki K, Deguchi K, Shimizu Y, Bronston RT, Gao Y-H, Inada M, Sato M, Okamoto R, Kitamura Y, Yoshiki S, Kishimoto T 1997 Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts. Cell 89:755-764
-
(1997)
Cell
, vol.89
, pp. 755-764
-
-
Komori, T.1
Yagi, H.2
Nomura, S.3
Yamaguchi, A.4
Sasaki, K.5
Deguchi, K.6
Shimizu, Y.7
Bronston, R.T.8
Gao, Y.-H.9
Inada, M.10
Sato, M.11
Okamoto, R.12
Kitamura, Y.13
Yoshiki, S.14
Kishimoto, T.15
-
45
-
-
0030666372
-
Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development
-
Otto F, Thornell AP, Crompton T, Denzel A, Gilmour KC, Rosewell IR, Stamp GW, Beddington RS, Mundlos S, Olsen BR, Selby PB, Owen MJ 1997 Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. Cell 89:765-771
-
(1997)
Cell
, vol.89
, pp. 765-771
-
-
Otto, F.1
Thornell, A.P.2
Crompton, T.3
Denzel, A.4
Gilmour, K.C.5
Rosewell, I.R.6
Stamp, G.W.7
Beddington, R.S.8
Mundlos, S.9
Olsen, B.R.10
Selby, P.B.11
Owen, M.J.12
-
46
-
-
0032450721
-
Biology, physiology, and clinical chemistry of osteocalcin
-
Gundberg C 1998 Biology, physiology, and clinical chemistry of osteocalcin. J Clin Ligand Assay 21:128-138
-
(1998)
J Clin Ligand Assay
, vol.21
, pp. 128-138
-
-
Gundberg, C.1
-
47
-
-
15844412402
-
Increased bone formation in osteocalcin-deficient mice
-
Ducy P, Desbois C, Boyce B, Pinero G, Story B, Dunstan C, Smith E, Bonadio J, Goldstein S, Gundberg C, Bradley A, Karsenty G 1996 Increased bone formation in osteocalcin-deficient mice. Nature 382:448-452
-
(1996)
Nature
, vol.382
, pp. 448-452
-
-
Ducy, P.1
Desbois, C.2
Boyce, B.3
Pinero, G.4
Story, B.5
Dunstan, C.6
Smith, E.7
Bonadio, J.8
Goldstein, S.9
Gundberg, C.10
Bradley, A.11
Karsenty, G.12
-
48
-
-
0025184825
-
Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal-5′-phosphate ectophosphatase: Normal and hypophosphatasia fibroblast study
-
Fedde KN, Whyte MP 1990 Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal-5′-phosphate ectophosphatase: normal and hypophosphatasia fibroblast study. Am J Hum Genet 47:767-775
-
(1990)
Am J Hum Genet
, vol.47
, pp. 767-775
-
-
Fedde, K.N.1
Whyte, M.P.2
-
49
-
-
0037059614
-
The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation
-
Nakashima K, Zhou X, Kunkel G, Zhang Z, Deng JM, Behringer RR, de Crombrugghe B 2002 The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation. Cell 108:17-29
-
(2002)
Cell
, vol.108
, pp. 17-29
-
-
Nakashima, K.1
Zhou, X.2
Kunkel, G.3
Zhang, Z.4
Deng, J.M.5
Behringer, R.R.6
De Crombrugghe, B.7
-
50
-
-
0033662188
-
Cbfa1: A molecular switch in osteoblast biology
-
Ducy P 2000 Cbfa1: a molecular switch in osteoblast biology. Dev Dyn 219:461-471
-
(2000)
Dev Dyn
, vol.219
, pp. 461-471
-
-
Ducy, P.1
-
51
-
-
0019510277
-
New syndrome in three affected siblings
-
Crane JP, Heise RL 1981 New syndrome in three affected siblings. Pediatrics 68:235-237
-
(1981)
Pediatrics
, vol.68
, pp. 235-237
-
-
Crane, J.P.1
Heise, R.L.2
-
52
-
-
0031971180
-
Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162→Thr mutation associated with lethal hypophosphatasia
-
Shibata H, Fukushi M, Igarashi A, Misumi Y, Ikehara Y, Ohashi Y, Oda K 1998 Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162→Thr mutation associated with lethal hypophosphatasia. J Biochem (Tokyo) 123:968-977
-
(1998)
J Biochem (Tokyo)
, vol.123
, pp. 968-977
-
-
Shibata, H.1
Fukushi, M.2
Igarashi, A.3
Misumi, Y.4
Ikehara, Y.5
Ohashi, Y.6
Oda, K.7
-
53
-
-
0025874465
-
Serum osteocalcin levels before and after 1,25 dihydroxy-vitamin D stimulation in a family with hypophosphatasia
-
Macfarlane JD, Frolich M, Papapoulos SE 1991 Serum osteocalcin levels before and after 1,25 dihydroxy-vitamin D stimulation in a family with hypophosphatasia. Bone 12:261-263
-
(1991)
Bone
, vol.12
, pp. 261-263
-
-
Macfarlane, J.D.1
Frolich, M.2
Papapoulos, S.E.3
|