-
1
-
-
0031035615
-
Autosomal dominant hypophosphatemic rickets/osteomalacia: Clinical characterization of a novel renal phosphate wasting disorder
-
Econs, M.J., and P.T. McEnery. 1997. Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate wasting disorder. J. Clin. Endocrinol. Metab. 82:674-681.
-
(1997)
J. Clin. Endocrinol. Metab.
, vol.82
, pp. 674-681
-
-
Econs, M.J.1
McEnery, P.T.2
-
2
-
-
0001731036
-
The normal range of serum inorganic phosphorus and its utility as a discriminant in the diagnosis in congenital hypophosphatemia
-
Greenberg, B.G., R.G. Winters, and J.B. Graham. 1960 The normal range of serum inorganic phosphorus and its utility as a discriminant in the diagnosis in congenital hypophosphatemia. J. Clin. Endocrinol. Metab. 20:364-379.
-
(1960)
J. Clin. Endocrinol. Metab.
, vol.20
, pp. 364-379
-
-
Greenberg, B.G.1
Winters, R.G.2
Graham, J.B.3
-
3
-
-
0026721360
-
Multilocus mapping of the X-linked hypophosphatemic rickets gene
-
Econs, M.J., D.F. Barker, M.C. Speer, M.A. Pericak-Vance, P.R. Fain, and M.K. Drezner. 1992. Multilocus mapping of the X-linked hypophosphatemic rickets gene. J. Clin. Endocrinol. Metab. 75:201-206.
-
(1992)
J. Clin. Endocrinol. Metab.
, vol.75
, pp. 201-206
-
-
Econs, M.J.1
Barker, D.F.2
Speer, M.C.3
Pericak-Vance, M.A.4
Fain, P.R.5
Drezner, M.K.6
-
4
-
-
0004136246
-
-
Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
-
Sambrook, J., E.F. Fritsch, and T. Maniatis. 1989. Molecular Cloning: A Laboratory Manual, second ed. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY.
-
(1989)
Molecular Cloning: A Laboratory Manual, Second Ed.
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
-
5
-
-
0003156643
-
PEDIGENE: A comprehensive data management system to facilitate efficient and rapid disease gene mapping
-
Haynes, C.S., M.C. Speer, M. Peedin, A.D. Roses, J.L. Haines, J.M. Vance, and M.A. Pericak-Vance. 1995. PEDIGENE: a comprehensive data management system to facilitate efficient and rapid disease gene mapping. Am. J. Hum. Genet. 57:A193.
-
(1995)
Am. J. Hum. Genet.
, vol.57
-
-
Haynes, C.S.1
Speer, M.C.2
Peedin, M.3
Roses, A.D.4
Haines, J.L.5
Vance, J.M.6
Pericak-Vance, M.A.7
-
6
-
-
0028790963
-
The VITESSE algorithm for rapid exact multilocus linkage analysis data via genotype set-recoding and fuzzy inheritance
-
O'Connell, J.R., and D.E. Weeks. 1995. The VITESSE algorithm for rapid exact multilocus linkage analysis data via genotype set-recoding and fuzzy inheritance. Nat. Genet. 11:402-408.
-
(1995)
Nat. Genet.
, vol.11
, pp. 402-408
-
-
O'Connell, J.R.1
Weeks, D.E.2
-
7
-
-
0028000966
-
Linkage analysis of a candidate locus (HLA) in autosomal dominant sacral defect with anterior meningocele
-
Chatkupt, S., M.C. Speer, Y. Ding, M. Thomas, E.S. Stenroos, J.J. Dermody, M.R. Koenigsberger, J. Ott, and W.G. Johnson. 1994. Linkage analysis of a candidate locus (HLA) in autosomal dominant sacral defect with anterior meningocele. Am J. Med. Genet. 52:1-4.
-
(1994)
Am J. Med. Genet.
, vol.52
, pp. 1-4
-
-
Chatkupt, S.1
Speer, M.C.2
Ding, Y.3
Thomas, M.4
Stenroos, E.S.5
Dermody, J.J.6
Koenigsberger, M.R.7
Ott, J.8
Johnson, W.G.9
-
8
-
-
85068950077
-
Report of the Committee on Methods of Linkage Analysis and Reporting
-
Conneally, P.M., J.H. Edwards, K.K. Kidd, J.M. Lalouel, N.E. Morton, J. Ott, and R. White. 1985. Report of the Committee on Methods of Linkage Analysis and Reporting. Cytogenet. Cell Genet. 40:356-359.
-
(1985)
Cytogenet. Cell Genet.
, vol.40
, pp. 356-359
-
-
Conneally, P.M.1
Edwards, J.H.2
Kidd, K.K.3
Lalouel, J.M.4
Morton, N.E.5
Ott, J.6
White, R.7
-
9
-
-
0024602536
-
Estimating the power of a proposed linkage study for a complex genetic trait
-
Ploughman, L.M., and M. Boehnke. 1989. Estimating the power of a proposed linkage study for a complex genetic trait. Am. J. Hum. Genet. 44:543-551.
-
(1989)
Am. J. Hum. Genet.
, vol.44
, pp. 543-551
-
-
Ploughman, L.M.1
Boehnke, M.2
-
10
-
-
0025280026
-
Centre d'etude du polymorphisme humain (CEPH): Collaborative genetic mapping of the human genome
-
Dausset, J., H. Cann, D. Cohen, M. Lathrop, J.M. Lalouel, and R. White. 1990. Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome. Genomics. 6:575-577.
-
(1990)
Genomics
, vol.6
, pp. 575-577
-
-
Dausset, J.1
Cann, H.2
Cohen, D.3
Lathrop, M.4
Lalouel, J.M.5
White, R.6
-
11
-
-
0027461758
-
A microsatellite genetic linkage map of human chromosome 18
-
Straub, R.E., M.C. Speer, Y. Luo, K. Rojas, J. Overhauser, J. Ott, and T.C. Gilliam. 1993. A microsatellite genetic linkage map of human chromosome 18. Genomics. 15:48-56.
-
(1993)
Genomics
, vol.15
, pp. 48-56
-
-
Straub, R.E.1
Speer, M.C.2
Luo, Y.3
Rojas, K.4
Overhauser, J.5
Ott, J.6
Gilliam, T.C.7
-
12
-
-
84993917576
-
Positional cloning moves from perditional to traditional
-
Collins, F.S. 1995. Positional cloning moves from perditional to traditional. Nat. Genet. 9:347-350.
-
(1995)
Nat. Genet.
, vol.9
, pp. 347-350
-
-
Collins, F.S.1
-
13
-
-
0029884984
-
Human stanniocalcin: A possible hormonal regulator of mineral metabolism
-
Olsen, H.S., M.A. Cepeda, Q.Q. Zhang, C.A. Rosen, B.L. Vozzolo, and G.F. Wagner. 1996 Human stanniocalcin: a possible hormonal regulator of mineral metabolism. Proc. Natl. Acad. Sci. USA. 93:1792-1796.
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 1792-1796
-
-
Olsen, H.S.1
Cepeda, M.A.2
Zhang, Q.Q.3
Rosen, C.A.4
Vozzolo, B.L.5
Wagner, G.F.6
-
14
-
-
0031017406
-
Human stanniocalcin inhibits renal phosphate excretion in the rat
-
Wagner, G.F. B.L. Vozzolo, E. Jaworski, M. Haddad, R.L. Kline, H.S. Olsen, C.A. Rosen, M.B. Davidson, and J.L. Renfro. 1997. Human stanniocalcin inhibits renal phosphate excretion in the rat. J. Bone Miner. Res. 12:165-177.
-
(1997)
J. Bone Miner. Res.
, vol.12
, pp. 165-177
-
-
Wagner, G.F.1
Vozzolo, B.L.2
Jaworski, E.3
Haddad, M.4
Kline, R.L.5
Olsen, H.S.6
Rosen, C.A.7
Davidson, M.B.8
Renfro, J.L.9
-
15
-
-
0023675693
-
Molecular genetics of human salivary proteins and their polymorphisms
-
Azen, E.A., and N. Maeda. 1988. Molecular genetics of human salivary proteins and their polymorphisms. Adv. Hum. Genet. 17:141-199.
-
(1988)
Adv. Hum. Genet.
, vol.17
, pp. 141-199
-
-
Azen, E.A.1
Maeda, N.2
-
16
-
-
0030021441
-
Further characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25)
-
Gibson, M.A., G. Hatzinikolas, J.S. Kumaratilake, L.B. Sandberg, J.K. Nicholl, G.R. Sutherland, and E.G. Cleary. 1996. Further characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25). J. Biol. Chem. 271:1096-1103.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 1096-1103
-
-
Gibson, M.A.1
Hatzinikolas, G.2
Kumaratilake, J.S.3
Sandberg, L.B.4
Nicholl, J.K.5
Sutherland, G.R.6
Cleary, E.G.7
-
17
-
-
0025730214
-
Complete structure of the human gene encoding neuron-specific enolase
-
Oliva, D., L. Cali, S. Feo, and A. Giallongo. 1991. Complete structure of the human gene encoding neuron-specific enolase. Genomics. 10:157-165.
-
(1991)
Genomics
, vol.10
, pp. 157-165
-
-
Oliva, D.1
Cali, L.2
Feo, S.3
Giallongo, A.4
-
18
-
-
0025239484
-
Molecular cloning of beta 3 subunit, a third form of the G protein beta-subunit polypeptide
-
Levine, M.A., P.M. Smallwood, P.T. Moen, Jr., L.J. Helman, and T.G. Ahn. 1990. Molecular cloning of beta 3 subunit, a third form of the G protein beta-subunit polypeptide. Proc. Natl. Acad Sci. USA. 87:2329-2333.
-
(1990)
Proc. Natl. Acad Sci. USA
, vol.87
, pp. 2329-2333
-
-
Levine, M.A.1
Smallwood, P.M.2
Moen Jr., P.T.3
Helman, L.J.4
Ahn, T.G.5
-
19
-
-
0029943614
-
A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13
-
Ansari-Lari, M.A., D.M. Muzny, J. Lu, F. Lu, C.E. Lilley, S. Spanos, T. Malley and R.A. Gibbs. 1996. A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13. Genome Res. 6:314-326.
-
(1996)
Genome Res.
, vol.6
, pp. 314-326
-
-
Ansari-Lari, M.A.1
Muzny, D.M.2
Lu, J.3
Lu, F.4
Lilley, C.E.5
Spanos, S.6
Malley, T.7
Gibbs, R.A.8
-
20
-
-
0030895299
-
Large-scale sequencing in human chromosome 12p13: Experimental and computational gene structure determination
-
Ansari-Lari, M.A., Y. Shen, D.M. Muzny, W. Lee, and R.A. Gibbs. 1997. Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination. Genome Res. 7:268-280.
-
(1997)
Genome Res.
, vol.7
, pp. 268-280
-
-
Ansari-Lari, M.A.1
Shen, Y.2
Muzny, D.M.3
Lee, W.4
Gibbs, R.A.5
-
21
-
-
0017674698
-
Hypophosphatemic norachitic bone disease: An entity distinct from X-linked hypophosphatemia in the renal defect, bone involvement, and inheritance
-
Scriver, C.R., W. MacDonald, T. Reade, F.H. Glorieux, and B. Nogrady. 1977. Hypophosphatemic norachitic bone disease: an entity distinct from X-linked hypophosphatemia in the renal defect, bone involvement, and inheritance. Am. J. Med. Genet. 1:101-117.
-
(1977)
Am. J. Med. Genet.
, vol.1
, pp. 101-117
-
-
Scriver, C.R.1
MacDonald, W.2
Reade, T.3
Glorieux, F.H.4
Nogrady, B.5
-
22
-
-
0021813494
-
Genetic transmission of tumoral calcinosis: Autosomal dominant with variable clinical expressivity
-
Lyles, K.W., E.J. Burkes, G.J. Ellis, K.J. Lucas, E.A. Dolan, and M.K. Drezner. 1985. Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity. J. Clin. Endocrinol. Metab. 60:1093-1096.
-
(1985)
J. Clin. Endocrinol. Metab.
, vol.60
, pp. 1093-1096
-
-
Lyles, K.W.1
Burkes, E.J.2
Ellis, G.J.3
Lucas, K.J.4
Dolan, E.A.5
Drezner, M.K.6
-
23
-
-
0029160578
-
A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium
-
1995. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. Nat. Genet. 11:130-136.
-
(1995)
Nat. Genet.
, vol.11
, pp. 130-136
-
-
|