-
1
-
-
0032511762
-
International Nomenclature and Classification of the Osteochondrodysplasias 1997
-
International Working Group on Constitutional Disease of Bone. International Nomenclature and Classification of the Osteochondrodysplasias 1997. Am J Med Genet 1998;79:376-382.
-
(1998)
Am J Med Genet
, vol.79
, pp. 376-382
-
-
-
2
-
-
0001690310
-
Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification
-
Sly WS, Hewett-Emmett D, Whyte MP, Yu YS, Tashian RE. 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 1983;80:2752-2756.
-
(1983)
Proc Natl Acad Sci USA
, 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
-
3
-
-
0029317434
-
The gene for pycnodysostosis maps to human chromosome lcen-q21
-
Polymeropoulos MH, Ortiz De Luna RI, Ide SE, Torres R, Rubenstein J, Francomano CA. The gene for pycnodysostosis maps to human chromosome lcen-q21. Nat Genet 1995;10:238-239.
-
(1995)
Nat Genet
, vol.10
, pp. 238-239
-
-
Polymeropoulos, M.H.1
Ortiz De Luna, R.I.2
Ide, S.E.3
Torres, R.4
Rubenstein, J.5
Francomano, C.A.6
-
4
-
-
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. Autosomal recessive osteopetrosis: Variability of findings at diagnosis and during the natural course. Pediatrics 1994;932:247-253.
-
(1994)
Pediatrics
, vol.932
, 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
-
5
-
-
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. 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;1256: 896-902.
-
(1994)
J Pediatr
, vol.1256
, 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
-
6
-
-
0029047151
-
Long-term treatment of osteopetrosis with recombinant human interferon gamma
-
33224
-
Key LL Jr, Rodriguiz RM, Willi SM, Wright NM, Hatcher HC, Eyre DR, Cure JK, Griffin PP, Ries WL. Long-term treatment of osteopetrosis with recombinant human interferon gamma. N Engl J Med 1995;33224:1594-1599.
-
(1995)
N Engl J Med
, pp. 1594-1599
-
-
Key L.L., Jr.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
-
7
-
-
0031656797
-
Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis oc mutation
-
Heaney C, Shalev H, Elbedour K, Carmi R, Staack JB, Sheffield VC, Beier DR. Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis oc mutation. Hum Mol Genet 1998;7:1407-1410.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1407-1410
-
-
Heaney, C.1
Shalev, H.2
Elbedour, K.3
Carmi, R.4
Staack, J.B.5
Sheffield, V.C.6
Beier, D.R.7
-
8
-
-
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 JR, Keeling DJ, Andersson AK, Wallbrandt P, Zecca L, Notarangelo LD, Vezzoni P, Villa A. 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
Giliani, S.4
Abinun, M.5
Mattsson, J.R.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
-
9
-
-
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. Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis. Hum Mol Genet 2000;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
-
10
-
-
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. Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell 2001;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
-
13
-
-
0024389809
-
Autosomal dominant osteopetrosis: Bone metabolism and epidemiological, clinical, and hormonal aspects
-
Bollerslev J. Autosomal dominant osteopetrosis: Bone metabolism and epidemiological, clinical, and hormonal aspects. Endocr Rev 1989;101:45-67.
-
(1989)
Endocr Rev
, vol.101
, pp. 45-67
-
-
Bollerslev, J.1
-
14
-
-
0023900049
-
Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis
-
Bollerslev J, Andersen PE Jr. Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. Bone 1988;91:7-13.
-
(1988)
Bone
, vol.91
, pp. 7-13
-
-
Bollerslev, J.1
Andersen P.E., Jr.2
-
15
-
-
0001197960
-
Autosomal dominant osteopetrosis type I is genetically linked to the same region on human chromosome 11 as the high bone mass phenotype
-
Van Hul E, Mathysen D, Bollerslev J, Gram J, Van Hul W. Autosomal dominant osteopetrosis type I is genetically linked to the same region on human chromosome 11 as the high bone mass phenotype. J Bone Miner Res 2000;15:S260.
-
(2000)
J Bone Miner Res
, vol.15
-
-
Van Hul, E.1
Mathysen, D.2
Bollerslev, J.3
Gram, J.4
Van Hul, W.5
-
16
-
-
0030908846
-
Linkage of a gene causing high bone mass to human chromosome 11 11q12-13
-
Johnson ML, Gong G, Kimberling W, Recker SM, Kimmel DB, Recker RB. Linkage of a gene causing high bone mass to human chromosome 11 11q12-13. Am J Hum Genet 1997;60:1326-1332.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1326-1332
-
-
Johnson, M.L.1
Gong, G.2
Kimberling, W.3
Recker, S.M.4
Kimmel, D.B.5
Recker, R.B.6
-
17
-
-
0030826426
-
Localization of a gene for autosomal dominant osteopetrosis Albers-Schonberg disease to chromosome 1p21
-
Van Hul W, Bollerslev J, Gram J, Van Hul E, Wuyts W, Benichou O, Vanhoenacker F, Willems PJ. Localization of a gene for autosomal dominant osteopetrosis Albers-Schonberg disease to chromosome 1p21. Am J Hum Genet 1997;61: 363-369.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 363-369
-
-
Van Hul, W.1
Bollerslev, J.2
Gram, J.3
Van Hul, E.4
Wuyts, W.5
Benichou, O.6
Vanhoenacker, F.7
Willems, P.J.8
-
18
-
-
0033059325
-
Locus heterogeneity of autosomal dominant osteopetrosis ADO
-
White KE, Koller DL, Takacs I, Buckwalter KA, Foroud T, Econs MJ. Locus heterogeneity of autosomal dominant osteopetrosis ADO. J Clin Endoc Metab 1999;84:1047-1051.
-
(1999)
J Clin Endoc Metab
, vol.84
, pp. 1047-1051
-
-
White, K.E.1
Koller, D.L.2
Takacs, I.3
Buckwalter, K.A.4
Foroud, T.5
Econs, M.J.6
-
19
-
-
0033819751
-
Further evidence for genetic heterogeneity within type II autosomal dominant osteopetrosis
-
Benichou OD, Benichou B, Copin H, De Vernejoul MC, Van Hul W. Further evidence for genetic heterogeneity within type II autosomal dominant osteopetrosis. J Bone Miner Res 2000;15:1900-1904.
-
(2000)
J Bone Miner Res
, vol.15
, pp. 1900-1904
-
-
Benichou, O.D.1
Benichou, B.2
Copin, H.3
De Vernejoul, M.C.4
Van Hul, W.5
-
20
-
-
0034894052
-
Mapping of autosomal dominant osteopetrosis type II (Albers-Schonberg disease) to chromosome 16p13.3
-
Benichou O, Cleiren E, Gram J, Bollerslev J, de Vernejoul MC, Van Hul W. Mapping of autosomal dominant osteopetrosis type II (Albers-Schonberg disease) to chromosome 16p13.3. Am J Hum Genet 2001;69:647-654.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 647-654
-
-
Benichou, O.1
Cleiren, E.2
Gram, J.3
Bollerslev, J.4
De Vernejoul, M.C.5
Van Hul, W.6
-
21
-
-
73649185887
-
La pycnodysostose
-
Maroteaux P, Lamy M. La pycnodysostose. Presse Med 1962;70:999-1002.
-
(1962)
Presse Med
, vol.70
, pp. 999-1002
-
-
Maroteaux, P.1
Lamy, M.2
-
22
-
-
0029809357
-
Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency
-
Gelb BD, Shi GP, Chapman HA, Desnick RJ. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 1996;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
-
23
-
-
0017873829
-
Osteopathia striata with cranial sclerosis: An autosomal dominant entity
-
Horan FT, Beighton PH. Osteopathia striata with cranial sclerosis: An autosomal dominant entity. Clin Genet 1978;13:201-206.
-
(1978)
Clin Genet
, vol.13
, pp. 201-206
-
-
Horan, F.T.1
Beighton, P.H.2
-
24
-
-
0031769675
-
Severe malformations in males from families with osteopathia striata with cranial sclerosis
-
Bueno AL, Ramos FF, Bueno O, Olivares JL, Bello ML, Bueno M. Severe malformations in males from families with osteopathia striata with cranial sclerosis. Clin Genet 1998;54:400-405.
-
(1998)
Clin Genet
, vol.54
, pp. 400-405
-
-
Bueno, A.L.1
Ramos, F.F.2
Bueno, O.3
Olivares, J.L.4
Bello, M.L.5
Bueno, M.6
-
25
-
-
0034084256
-
Osteopathia striata with cranial sclerosis: Literature reappraisal argues for X-linked inheritance
-
Behninger C, Rott HD. Osteopathia striata with cranial sclerosis: Literature reappraisal argues for X-linked inheritance. Genet Couns 2000;11:157-167.
-
(2000)
Genet Couns
, vol.11
, pp. 157-167
-
-
Behninger, C.1
Rott, H.D.2
-
26
-
-
0021224901
-
Progressive diaphyseal dysplasia: Genetics and clinical and radiologic manifestations
-
Naveh Y, Kaftori JK, Alon U, Ben-David J, Berant M. Progressive diaphyseal dysplasia: Genetics and clinical and radiologic manifestations. Pediatrics 1984;743:399-405.
-
(1984)
Pediatrics
, vol.743
, pp. 399-405
-
-
Naveh, Y.1
Kaftori, J.K.2
Alon, U.3
Ben-David, J.4
Berant, M.5
-
27
-
-
0034016213
-
Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13
-
Janssens K, Gershoni-Baruch R, Van Hul E, Brik R, Guanabens N, Migone N, Verbruggen LA, Ralston SH, Bonduelle M, Van Maldergem L, Vanhoenacker F, Van Hul W. Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13. J Med Genet 2000;37:245-249.
-
(2000)
J Med Genet
, vol.37
, pp. 245-249
-
-
Janssens, K.1
Gershoni-Baruch, R.2
Van Hul, E.3
Brik, R.4
Guanabens, N.5
Migone, N.6
Verbruggen, L.A.7
Ralston, S.H.8
Bonduelle, M.9
Van Maldergem, L.10
Vanhoenacker, F.11
Van Hul, W.12
-
28
-
-
0033909665
-
Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3
-
Ghadami M, Makita Y, Yoshida K, Nishimura G, Fukushima Y, Wakui K, Ikegawa S, Yamada K, Kondo S, Niikawa N, Tomita Ha. Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3. Am J Hum Genet 2000;66:143-147.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 143-147
-
-
Ghadami, M.1
Makita, Y.2
Yoshida, K.3
Nishimura, G.4
Fukushima, Y.5
Wakui, K.6
Ikegawa, S.7
Yamada, K.8
Kondo, S.9
Niikawa, N.10
Tomita, H.A.11
-
29
-
-
0033822170
-
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease
-
Kinoshita A, Saito T, Tomita Ha, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray JC, Taniguchi N, Niikawa N, Yoshiura Ki. Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. Nat Genet 2000;26:19-20.
-
(2000)
Nat Genet
, vol.26
, pp. 19-20
-
-
Kinoshita, A.1
Saito, T.2
Tomita, H.A.3
Makita, Y.4
Yoshida, K.5
Ghadami, M.6
Yamada, K.7
Kondo, S.8
Ikegawa, S.9
Nishimura, G.10
Fukushima, Y.11
Nakagomi, T.12
Saito, H.13
Sugimoto, T.14
Kamegaya, M.15
Hisa, K.16
Murray, J.C.17
Taniguchi, N.18
Niikawa, N.19
Yoshiura, K.I.20
more..
-
30
-
-
0033763317
-
Mutations in the gene encoding the latency-associated peptide of TGF-beta1 cause Camurati-Engelmann disease
-
Janssens K, Gershoni-Baruch R, Guanabens N, Migone N, Ralston S, Bonduelle M, Lissens W, Van Maldergem L, Vanhoenacker F, Verbruggen L, Van Hul W. Mutations in the gene encoding the latency-associated peptide of TGF-beta1 cause Camurati-Engelmann disease. Nat Genet 2000;26:273-275.
-
(2000)
Nat Genet
, vol.26
, pp. 273-275
-
-
Janssens, K.1
Gershoni-Baruch, R.2
Guanabens, N.3
Migone, N.4
Ralston, S.5
Bonduelle, M.6
Lissens, W.7
Van Maldergem, L.8
Vanhoenacker, F.9
Verbruggen, L.10
Van Hul, W.11
-
31
-
-
0015038783
-
Hyperostosis corticalis generalisata. Eight new cases
-
Van Buchem FS. Hyperostosis corticalis generalisata. Eight new cases. Acta Med Scand 1971;1894:257-267.
-
(1971)
Acta Med Scand
, vol.1894
, pp. 257-267
-
-
Van Buchem, F.S.1
-
32
-
-
0013919762
-
Hyperostosis corticalis generalisata congenita
-
Worth HM, Wollin DG. Hyperostosis corticalis generalisata congenita. J Can Assoc Radiol 1966;172:67-74.
-
(1966)
J Can Assoc Radiol
, vol.172
, pp. 67-74
-
-
Worth, H.M.1
Wollin, D.G.2
-
34
-
-
0023970128
-
Sclerosteosis
-
Beighton P. Sclerosteosis. J Med Genet 1988;253:200-203.
-
(1988)
J Med Genet
, vol.253
, pp. 200-203
-
-
Beighton, P.1
-
35
-
-
17344370229
-
Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21
-
Van Hul W, Balemans W, Van Hul E, Dikkers FG, Obee H, Stokroos RJ, Hildering P, Vanhoenacker F, Van Camp G, Willems PJ. Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21. Am J Hum Genet 1998;62:391-399.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 391-399
-
-
Van Hul, W.1
Balemans, W.2
Van Hul, E.3
Dikkers, F.G.4
Obee, H.5
Stokroos, R.J.6
Hildering, P.7
Vanhoenacker, F.8
Van Camp, G.9
Willems, P.J.10
-
36
-
-
0008294029
-
Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21
-
Balemans W, Van Den Ende J, Freire Paes-Alves A, Dikkers FG, Willems PJ, Vanhoenacker F, de Almeida-Melo N, Alves CF, Stratakis CA, Hill SC, Van Hul W. Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21. Am J Hum Genet 1999;64:1661-1669.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1661-1669
-
-
Balemans, W.1
Van Den Ende, J.2
Freire Paes-Alves, A.3
Dikkers, F.G.4
Willems, P.J.5
Vanhoenacker, F.6
De Almeida-Melo, N.7
Alves, C.F.8
Stratakis, C.A.9
Hill, S.C.10
Van Hul, W.11
-
37
-
-
0035282968
-
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein SOST
-
Balemans W, Ebeling M, Patel N, Van Hul E, Olson P, Dioszegi M, Lacza C, Wuyts W, Van Den Ende J, Willems P, Paes-Alves AF, Hill S, Bueno M, Ramos FJ, Tacconi P, Dikkers FG, Stratakis C, Lindpaintner K, Vickery B, Foernzler D, Van Hul W. Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein SOST. Hum Mol Genet 2001;10:537-543.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 537-543
-
-
Balemans, W.1
Ebeling, M.2
Patel, N.3
Van Hul, E.4
Olson, P.5
Dioszegi, M.6
Lacza, C.7
Wuyts, W.8
Van Den Ende, J.9
Willems, P.10
Paes-Alves, A.F.11
Hill, S.12
Bueno, M.13
Ramos, F.J.14
Tacconi, P.15
Dikkers, F.G.16
Stratakis, C.17
Lindpaintner, K.18
Vickery, B.19
Foernzler, D.20
Van Hul, W.21
more..
-
38
-
-
0035089781
-
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein
-
Brunkow ME, Gardner JC, Van Ness J, Paeper BW, Kovacevich BR, Proll S, Skonier JE, Zhao L, Sabo PJ, Fu Y-H, Alisch RS, Gillett L, Colbert T, Tacconi P, Galas D, Hamersma H, Beighton P, Mulligan JT. Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. Am J Hum Genet 2001;68:577-589.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 577-589
-
-
Brunkow, M.E.1
Gardner, J.C.2
Van Ness, J.3
Paeper, B.W.4
Kovacevich, B.R.5
Proll, S.6
Skonier, J.E.7
Zhao, L.8
Sabo, P.J.9
Fu, Y.-H.10
Alisch, R.S.11
Gillett, L.12
Colbert, T.13
Tacconi, P.14
Galas, D.15
Hamersma, H.16
Beighton, P.17
Mulligan, J.T.18
-
39
-
-
80052377658
-
-
In press
-
Balemans W, Patel N, Ebeling M, Van Hul E, Wuyts W, Lacza C, Dioszegi M, Dikkers FG, Hildering P, Willems PJ, Verheij JBMG, Lindpaintner K, Vickery B, Foernzler D, Van Hul W. Identification of a 52 kb Deletion Downstream of the SOST Gene in Patients with van Buchem Disease. In press.
-
Identification of a 52 kb Deletion Downstream of the SOST Gene in Patients with van Buchem Disease
-
-
Balemans, W.1
Patel, N.2
Ebeling, M.3
Van Hul, E.4
Wuyts, W.5
Lacza, C.6
Dioszegi, M.7
Dikkers, F.G.8
Hildering, P.9
Willems, P.J.10
Verheij, J.B.M.G.11
Lindpaintner, K.12
Vickery, B.13
Foernzler, D.14
Van Hul, W.15
-
40
-
-
0031055673
-
Kenny-Caffey syndrome in six Bedouin sibships: Autosomal recessive inheritance is confirmed
-
Khan KTS, Uma R, Usha R, Al Ghanem MM, Al Awadi SA, Farag TI. Kenny-Caffey syndrome in six Bedouin sibships: Autosomal recessive inheritance is confirmed. Am J Med Genet 1997;69:126-132.
-
(1997)
Am J Med Genet
, vol.69
, pp. 126-132
-
-
Khan, K.T.S.1
Uma, R.2
Usha, R.3
Al Ghanem, M.M.4
Al Awadi, S.A.5
Farag, T.I.6
-
41
-
-
0032533602
-
The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43
-
Diaz GA, Khan KT, Gelb BD. The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43. Genomics 1998;54:13-18.
-
(1998)
Genomics
, vol.54
, pp. 13-18
-
-
Diaz, G.A.1
Khan, K.T.2
Gelb, B.D.3
-
43
-
-
0034684730
-
Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia
-
Iughetti P, Alonso LG, Wilcox W, Alonso N, Passos-Bueno MR. 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 2000;95:482-491.
-
(2000)
Am J Med Genet
, vol.95
, pp. 482-491
-
-
Iughetti, P.1
Alonso, L.G.2
Wilcox, W.3
Alonso, N.4
Passos-Bueno, M.R.5
-
44
-
-
0030774770
-
The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene
-
Nurnberg P, Tinschert S, Mrug M, Hampe J, Muller CR, Fuhrmann E, Braun HS, Reis A. The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene. Am J Hum Genet 1997;61:918-923.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 918-923
-
-
Nurnberg, P.1
Tinschert, S.2
Mrug, M.3
Hampe, J.4
Muller, C.R.5
Fuhrmann, E.6
Braun, H.S.7
Reis, A.8
-
45
-
-
0035041718
-
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia
-
Nurnberg P, Thiele H, Chandler D, Hohne 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. 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
-
-
Nurnberg, P.1
Thiele, H.2
Chandler, D.3
Hohne, W.4
Cunningham, M.L.5
Ritter, H.6
Leschik, G.7
Uhlmann, K.8
Mischung, C.9
Harrop, K.10
Goldblatt, J.11
Borochowitz, Z.U.12
Kotzot, D.13
Westermann, F.14
Mundlos, S.15
Braun, H.S.16
Laing, N.17
Tinschert, S.18
-
46
-
-
0034987026
-
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK
-
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. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet 2001;68:1321-1326.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1321-1326
-
-
Reichenberger, E.1
Tiziani, V.2
Watanabe, S.3
Park, L.4
Ueki, Y.5
Santanna, C.6
Baur, S.T.7
Shiang, R.8
Grange, D.K.9
Beighton, P.10
Gardner, J.11
Hamersma, H.12
Sellars, S.13
Ramesar, R.14
Lidral, A.C.15
Sommer, A.16
Raposo do Amaral, C.M.17
Gorlin, R.J.18
Mulliken, J.B.19
Olsen, B.R.20
more..
-
47
-
-
0030728173
-
Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21
-
Hart TC, Bowden DW, Bolyard J, Kula K, Hall K, Wright JT. Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21. Hum Mol Genet 1997;6:2279-2284.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2279-2284
-
-
Hart, T.C.1
Bowden, D.W.2
Bolyard, J.3
Kula, K.4
Hall, K.5
Wright, J.T.6
-
48
-
-
0031912018
-
Identification of a mutation in DLX3 associated with tricho-dento-osseous TDO syndrome
-
Price JA, Bowden DW, Wright JT, Pettenati MJ, Hart TC. Identification of a mutation in DLX3 associated with tricho-dento-osseous TDO syndrome. Hum Mol Genet 1998;7:563-569.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 563-569
-
-
Price, J.A.1
Bowden, D.W.2
Wright, J.T.3
Pettenati, M.J.4
Hart, T.C.5
-
49
-
-
0031725947
-
Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia
-
13912
-
Karaplis AC, He B, Nguyen MT, Young ID, Semeraro D, Ozawa H, Amizuka N. Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia. Endocrinology 1998;13912:5255-5258.
-
(1998)
Endocrinology
, pp. 5255-5258
-
-
Karaplis, A.C.1
He, B.2
Nguyen, M.T.3
Young, I.D.4
Semeraro, D.5
Ozawa, H.6
Amizuka, N.7
-
50
-
-
0031769483
-
A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia
-
Zhang P, Jobert AS, Couvineau A, Silve C. A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. J Clin Endocrinol Metab 1998;839:3365-3368.
-
(1998)
J Clin Endocrinol Metab
, vol.839
, pp. 3365-3368
-
-
Zhang, P.1
Jobert, A.S.2
Couvineau, A.3
Silve, C.4
-
51
-
-
0033305406
-
A frame-shift mutation in the type I parathyroid hormone PTH/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia
-
Karperien M, van der Harten HJ, van Schooten R, Farih-Sips H, den Hollander NS, Kneppers SL, Nijweide P, Papapoulos SE, Lowik CW. A frame-shift mutation in the type I parathyroid hormone PTH/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia. J Clin Endocrinol Metab 1999;84: 3713-3720.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 3713-3720
-
-
Karperien, M.1
Van der Harten, H.J.2
Van Schooten, R.3
Farih-Sips, H.4
Den Hollander, N.S.5
Kneppers, S.L.6
Nijweide, P.7
Papapoulos, S.E.8
Lowik, C.W.9
|