-
1
-
-
0029798574
-
X-linked hypophosphatemia: A search for gender, race, anticipation, or parent of origin effects on disease expression in children
-
Whyte MP, Schranck FW, Armamento-Villareal R 1996 X-linked hypophosphatemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children. J Clin Endocrinol Metab 81:4075-4080
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 4075-4080
-
-
Whyte, M.P.1
Schranck, F.W.2
Armamento-Villareal, R.3
-
2
-
-
13444259855
-
Genetic advances, biochemical and clinical features and critical approach to treatment of patients with X-linked hypophosphatemic rickets
-
Baroncelli GI, Bertelloni S, Sodini F, Galli L, Vanacore T, Fiore L, Saggese G 2004 Genetic advances, biochemical and clinical features and critical approach to treatment of patients with X-linked hypophosphatemic rickets. Pediatr Endocrinol Rev 1:361-379
-
(2004)
Pediatr Endocrinol Rev
, vol.1
, pp. 361-379
-
-
Baroncelli, G.I.1
Bertelloni, S.2
Sodini, F.3
Galli, L.4
Vanacore, T.5
Fiore, L.6
Saggese, G.7
-
3
-
-
32544458785
-
Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait
-
Goji K, Ozaki K, Sadewa AH, Nishio H, Matsuo M 2006 Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait. J Clin Endocrinol Metab 91:365-370
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 365-370
-
-
Goji, K.1
Ozaki, K.2
Sadewa, A.H.3
Nishio, H.4
Matsuo, M.5
-
4
-
-
15644362412
-
Mutational analysis of PHEX gene in X-linked hypophosphatemia
-
Dixon PH, Christie PT, Wooding C, Trump D, Grieff M, Holm I, Gertner JM, Schmidtke J, Shah B, Shaw N, Smith C, Tau C, Schlessinger D, Whyte MP, Thakker RV 1998 Mutational analysis of PHEX gene in X-linked hypophosphatemia. J Clin Endocrinol Metab 83:3615-3623
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 3615-3623
-
-
Dixon, P.H.1
Christie, P.T.2
Wooding, C.3
Trump, D.4
Grieff, M.5
Holm, I.6
Gertner, J.M.7
Schmidtke, J.8
Shah, B.9
Shaw, N.10
Smith, C.11
Tau, C.12
Schlessinger, D.13
Whyte, M.P.14
Thakker, R.V.15
-
5
-
-
42049085107
-
Metabolic bone disease in children
-
Avioli LV, Krane SM, eds, 3rd ed. New York: Academic Press;
-
Glorieux FH, Karsenty G, Thakker RV 1997 Metabolic bone disease in children. In: Avioli LV, Krane SM, eds. Metabolic bone diseases and clinically related disorders. 3rd ed. New York: Academic Press; 759-783
-
(1997)
Metabolic bone diseases and clinically related disorders
, pp. 759-783
-
-
Glorieux, F.H.1
Karsenty, G.2
Thakker, R.V.3
-
6
-
-
1842862808
-
Growth and metabolic control during puberty in girls with X-linked hypophosphataemic rickets
-
Sochett E, Doria AS, Henriques F, Kooh SW, Daneman A, Makitie O 2004 Growth and metabolic control during puberty in girls with X-linked hypophosphataemic rickets. Horm Res 61:252-256
-
(2004)
Horm Res
, vol.61
, pp. 252-256
-
-
Sochett, E.1
Doria, A.S.2
Henriques, F.3
Kooh, S.W.4
Daneman, A.5
Makitie, O.6
-
7
-
-
0041382544
-
Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets
-
Makitie O, Doria A, Kooh SW, Cole WG, Daneman A, Sochett E 2003 Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 88:3591-3597
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 3591-3597
-
-
Makitie, O.1
Doria, A.2
Kooh, S.W.3
Cole, W.G.4
Daneman, A.5
Sochett, E.6
-
8
-
-
0025786015
-
X-linked hypophosphatemia. Genetic and clinical correlates
-
Hanna JD, Niimi K, Chan JC 1991 X-linked hypophosphatemia. Genetic and clinical correlates. Am J Dis Child 145:865-870
-
(1991)
Am J Dis Child
, vol.145
, pp. 865-870
-
-
Hanna, J.D.1
Niimi, K.2
Chan, J.C.3
-
9
-
-
85031380331
-
-
de Wijn JF, de Haas JH 1960 Groeidiagrammen van 1-25 jarigen in Nederland. Leiden: N.V. Drukkerij v/h Batteljee, Terpstra
-
de Wijn JF, de Haas JH 1960 Groeidiagrammen van 1-25 jarigen in Nederland. Leiden: N.V. Drukkerij v/h Batteljee, Terpstra
-
-
-
-
10
-
-
0034889880
-
Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets
-
Holm IA, Nelson AE, Robinson BG, Mason RS, Marsh DJ, Cowell CT, Carpenter TO 2001 Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 86:3889-3899
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 3889-3899
-
-
Holm, I.A.1
Nelson, A.E.2
Robinson, B.G.3
Mason, R.S.4
Marsh, D.J.5
Cowell, C.T.6
Carpenter, T.O.7
-
11
-
-
15644373713
-
A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: Evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets
-
Econs MJ, Friedman NE, Rowe PS, Speer MC, Francis F, Strom TM, Oudet C, Smith JA, Ninomiya JT, Lee BE, Bergen H 1998 A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 83:3459-3462
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 3459-3462
-
-
Econs, M.J.1
Friedman, N.E.2
Rowe, P.S.3
Speer, M.C.4
Francis, F.5
Strom, T.M.6
Oudet, C.7
Smith, J.A.8
Ninomiya, J.T.9
Lee, B.E.10
Bergen, H.11
-
12
-
-
0032794360
-
Non-random distribution of mutations in the PHEX gene, and underdetected missense mutations at non-conserved residues
-
Filisetti D, Ostermann G, von Bredow M, Strom T, Filler G, Ehrich J, Pannetier S, Garnier JM, Rowe P, Francis F, Julienne A, Hanauer A, Econs MJ, Oudet C 1999 Non-random distribution of mutations in the PHEX gene, and underdetected missense mutations at non-conserved residues. Eur J Hum Genet 7:615-619
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 615-619
-
-
Filisetti, D.1
Ostermann, G.2
von Bredow, M.3
Strom, T.4
Filler, G.5
Ehrich, J.6
Pannetier, S.7
Garnier, J.M.8
Rowe, P.9
Francis, F.10
Julienne, A.11
Hanauer, A.12
Econs, M.J.13
Oudet, C.14
-
14
-
-
0029157148
-
Long-term growth hormone treatment in children with renal hypophosphatemic rickets: Effects on growth, mineral metabolism, and bone density
-
Saggese G, Baroncelli GI, Bertelloni S, Perri G 1995 Long-term growth hormone treatment in children with renal hypophosphatemic rickets: effects on growth, mineral metabolism, and bone density. J Pediatr 127:395-402
-
(1995)
J Pediatr
, vol.127
, pp. 395-402
-
-
Saggese, G.1
Baroncelli, G.I.2
Bertelloni, S.3
Perri, G.4
-
15
-
-
33847141774
-
Growth in X-linked hypophosphatemic rickets
-
Ariceta G, Langman CB 2007 Growth in X-linked hypophosphatemic rickets. Eur J Pediatr 166:303-309
-
(2007)
Eur J Pediatr
, vol.166
, pp. 303-309
-
-
Ariceta, G.1
Langman, C.B.2
-
16
-
-
0031765031
-
Calcium metabolism and growth during early treatment of children with X-linked hypophosphataemic rickets
-
Kruse K, Hinkel GK, Griefahn B 1998 Calcium metabolism and growth during early treatment of children with X-linked hypophosphataemic rickets. Eur J Pediatr 157:894-900
-
(1998)
Eur J Pediatr
, vol.157
, pp. 894-900
-
-
Kruse, K.1
Hinkel, G.K.2
Griefahn, B.3
-
17
-
-
0026720884
-
X-linked hypophosphatemic rickets: A study (with literature review) of linear growth response to calcitriol and phosphate therapy
-
Petersen DJ, Boniface AM, Schranck FW, Rupich RC, Whyte MP 1992 X-linked hypophosphatemic rickets: a study (with literature review) of linear growth response to calcitriol and phosphate therapy. J Bone Miner Res 7:583-597
-
(1992)
J Bone Miner Res
, vol.7
, pp. 583-597
-
-
Petersen, D.J.1
Boniface, A.M.2
Schranck, F.W.3
Rupich, R.C.4
Whyte, M.P.5
-
18
-
-
0035134912
-
Effect of growth hormone treatment on final height, phosphate metabolism, and bone mineral density in children with X-linked hypophosphatemic rickets
-
Baroncelli GI, Bertelloni S, Ceccarelli C, Saggese G 2001 Effect of growth hormone treatment on final height, phosphate metabolism, and bone mineral density in children with X-linked hypophosphatemic rickets. J Pediatr 138:236-243
-
(2001)
J Pediatr
, vol.138
, pp. 236-243
-
-
Baroncelli, G.I.1
Bertelloni, S.2
Ceccarelli, C.3
Saggese, G.4
-
19
-
-
0025265911
-
Linear growth in patients with hypophosphatemic vitamin D-resistant rickets: Influence of treatment regimen and parental height
-
Balsan S, Tieder M 1990 Linear growth in patients with hypophosphatemic vitamin D-resistant rickets: influence of treatment regimen and parental height. J Pediatr 116:365-371
-
(1990)
J Pediatr
, vol.116
, pp. 365-371
-
-
Balsan, S.1
Tieder, M.2
-
20
-
-
0029050054
-
Association between X-linked hypophosphatemic rickets and Klinefelter's syndrome: Effects on growth and body proportion
-
Baroncelli GI, Bertelloni S, Perri G, Saggese G 1995 Association between X-linked hypophosphatemic rickets and Klinefelter's syndrome: effects on growth and body proportion. Hum Genet 95:581-585
-
(1995)
Hum Genet
, vol.95
, pp. 581-585
-
-
Baroncelli, G.I.1
Bertelloni, S.2
Perri, G.3
Saggese, G.4
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