-
1
-
-
0001445647
-
Cerebral gigantism in childhood. Asyndrome of excessively rapid growth and acromegalic features and a nonprogressive neurologic disorder
-
Sotos JF, Dodge PR, Muirhead D, Crawford JD, Talbot NB. Cerebral gigantism in childhood. Asyndrome of excessively rapid growth and acromegalic features and a nonprogressive neurologic disorder. N Engl J Med. 1964;271:109-116.
-
(1964)
N Engl J Med
, vol.271
, pp. 109-116
-
-
Sotos, J.F.1
Dodge, P.R.2
Muirhead, D.3
Crawford, J.D.4
Talbot, N.B.5
-
2
-
-
0028078759
-
Sotos syndrome: A study of the diagnostic criteria and natural history
-
Cole TR, Hughes HE. Sotos syndrome: a study of the diagnostic criteria and natural history. J Med Genet. 1994;31:20-32. (Pubitemid 24037942)
-
(1994)
Journal of Medical Genetics
, vol.31
, Issue.1
, pp. 20-32
-
-
Cole, T.R.P.1
Hughes, H.E.2
-
5
-
-
20244383850
-
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome
-
DOI 10.1136/jmg.2004.027755
-
Tatton-Brown K, Douglas J, Coleman K, et al. Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome. J Med Genet. 2005;42:307-313. (Pubitemid 40523952)
-
(2005)
Journal of Medical Genetics
, vol.42
, Issue.4
, pp. 307-313
-
-
Tatton-Brown, K.1
Douglas, J.2
Coleman, K.3
Baujat, G.4
Chandler, K.5
Clarke, A.6
Collins, A.7
Davies, S.8
Faravelli, F.9
Firth, H.10
Garrett, C.11
Hughes, H.12
Kerr, B.13
Liebelt, J.14
Reardon, W.15
Schaefer, G.B.16
Splitt, M.17
Temple, I.K.18
Waggoner, D.19
Weaver, D.D.20
Wilson, L.21
Cole, T.22
Cormier-Daire, V.23
Irrthum, A.24
Rahman, N.25
more..
-
6
-
-
35648965252
-
Heterogeneity of NSD1 alterations in 116 patients with sotos syndrome
-
DOI 10.1002/humu.20568
-
Saugier-Veber P, Bonnet C, Drouin-Garraud V, et al. Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome. Hum Mutat. 2007;28:1098-1107. (Pubitemid 350036914)
-
(2007)
Human Mutation
, vol.28
, Issue.11
, pp. 1098-1107
-
-
Saugier-Veber, P.1
Bonnet, C.2
Afenjar, A.3
Drouin-Garraud, V.4
Coubes, C.5
Fehrenbach, S.6
Holder-Espinasse, M.7
Roume, J.8
Malan, V.9
Portnoi, M.-F.10
Jeanne, N.11
Baumann, C.12
Heron, D.13
David, A.14
Gerard, M.15
Bonneau, D.16
Lacombe, D.17
Cormier-Daire, V.18
De Villemeur, T.B.19
Frebourg, T.20
Burglen, L.21
more..
-
7
-
-
80052454764
-
Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: A contiguous gene syndrome
-
Kenny J, Lees MM, Drury S, et al. Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome. Pediatr Nephrol. 2011;26:1331-1334.
-
(2011)
Pediatr Nephrol
, vol.26
, pp. 1331-1334
-
-
Kenny, J.1
Lees, M.M.2
Drury, S.3
-
8
-
-
77950250437
-
A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome
-
Magen D, Berger L, Coady MJ, et al. A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome. N Engl J Med. 2010;362:1102-1109.
-
(2010)
N Engl J Med
, vol.362
, pp. 1102-1109
-
-
Magen, D.1
Berger, L.2
Coady, M.J.3
-
9
-
-
0032574725
-
Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities
-
DOI 10.1073/pnas.95.9.5372
-
Beck L, Karaplis AC, Amizuka N, Hewson AS, Ozawa H, Tenenhouse HS. Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. Proc Natl Acad Sci USA. 1998;95:5372-5377. (Pubitemid 28208605)
-
(1998)
Proceedings of the National Academy of Sciences of the United States of America
, vol.95
, Issue.9
, pp. 5372-5377
-
-
Beck, L.1
Karaplis, A.C.2
Amizuka, N.3
Hewson, A.S.4
Ozawa, H.5
Tenenhouse, H.S.6
-
10
-
-
84873658813
-
Fibroblast growth factor 23 and Klotho: Physiology and pathophysiology of an endocrine network of mineral metabolism
-
Hu MC, Shiizaki K, Kuro-o M, Moe OW. Fibroblast growth factor 23 and Klotho: physiology and pathophysiology of an endocrine network of mineral metabolism. Annu Rev Physiol. 2013;75:503-533.
-
(2013)
Annu Rev Physiol
, vol.75
, pp. 503-533
-
-
Hu, M.C.1
Shiizaki, K.2
Kuro-o, M.3
Moe, O.W.4
-
11
-
-
67649118226
-
Discovery of α-Klotho unveiled new insights into calcium and phosphate homeostasis
-
Nabeshima Y. Discovery of α-Klotho unveiled new insights into calcium and phosphate homeostasis. Proc Jpn Acad Ser B Phys Biol Sci. 2009;85:125-141.
-
(2009)
Proc Jpn Acad Ser B Phys Biol Sci
, vol.85
, pp. 125-141
-
-
Nabeshima, Y.1
-
12
-
-
33646578195
-
Regulation of fibroblast growth factor-23 signaling by Klotho
-
DOI 10.1074/jbc.C500457200
-
Kurosu H, Ogawa Y, Miyoshi M, et al. Regulation of fibroblast growth factor-23 signaling by klotho. J Biol Chem. 2006;281:6120-6123. (Pubitemid 43847540)
-
(2006)
Journal of Biological Chemistry
, vol.281
, Issue.10
, pp. 6120-6123
-
-
Kurosu, H.1
Ogawa, Y.2
Miyoshi, M.3
Yamamoto, M.4
Nandi, A.5
Rosenblatt, K.P.6
Baum, M.G.7
Schiavi, S.8
Hu, M.-C.9
Moe, O.W.10
Kuro-o, M.11
-
13
-
-
68049085792
-
FGF23 decreases renal NaPi-2a and NaPi-2c expression and induces hypophosphatemia in vivo predominantly via FGF receptor 1
-
Gattineni J, Bates C, Twombley K, et al. FGF23 decreases renal NaPi-2a and NaPi-2c expression and induces hypophosphatemia in vivo predominantly via FGF receptor 1. AmJ Physiol Renal Physiol. 2009;297:F282-F291.
-
(2009)
AmJ Physiol Renal Physiol
, vol.297
-
-
Gattineni, J.1
Bates, C.2
Twombley, K.3
-
14
-
-
79961141521
-
Regulation of serum 1,25(OH)2 vitamin D3 levels by fibroblast growth factor 23 is mediated by FGF receptors 3 and 4
-
Gattineni J, Twombley K, Goetz R, Mohammadi M, Baum M. Regulation of serum 1,25(OH)2 vitamin D3 levels by fibroblast growth factor 23 is mediated by FGF receptors 3 and 4. Am J Physiol Renal Physiol. 2011;301:F371-F377.
-
(2011)
Am J Physiol Renal Physiol
, vol.301
-
-
Gattineni, J.1
Twombley, K.2
Goetz, R.3
Mohammadi, M.4
Baum, M.5
-
15
-
-
69249136736
-
Low renal mineralocorticoid receptor expression at birth contributes to partial aldosterone resistance in neonates
-
Martinerie L, Viengchareun S, Delezoide AL, et al. Low renal mineralocorticoid receptor expression at birth contributes to partial aldosterone resistance in neonates. Endocrinology. 2009;150:4414-4424.
-
(2009)
Endocrinology
, vol.150
, pp. 4414-4424
-
-
Martinerie, L.1
Viengchareun, S.2
Delezoide, A.L.3
-
16
-
-
78049436242
-
Genetic disorders of renal phosphate transport
-
author reply 1774-1775
-
Levtchenko E, Schoeber J, Jaeken J. Genetic disorders of renal phosphate transport. NEngl J Med. 2010;363:1774; author reply 1774-1775.
-
(2010)
NEngl J Med
, vol.363
, pp. 1774
-
-
Levtchenko, E.1
Schoeber, J.2
Jaeken, J.3
-
17
-
-
77951259224
-
Regulation of phosphate transport by fibroblast growth factor 23 (FGF23): Implications for disorders of phosphate metabolism
-
Gattineni J, Baum M. Regulation of phosphate transport by fibroblast growth factor 23 (FGF23): implications for disorders of phosphate metabolism. Pediatr Nephrol. 2010;25:591-601.
-
(2010)
Pediatr Nephrol
, vol.25
, pp. 591-601
-
-
Gattineni, J.1
Baum, M.2
-
18
-
-
22544456244
-
Genotype-phenotype associations in Sotos syndrome: An analysis of 266 individuals with NSD1 aberrations
-
DOI 10.1086/432082
-
Tatton-Brown K, Douglas J, Coleman K, et al. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005;77:193-204. (Pubitemid 41022703)
-
(2005)
American Journal of Human Genetics
, vol.77
, Issue.2
, pp. 193-204
-
-
Tatton-Brown, K.1
Douglas, J.2
Coleman, K.3
Baujat, G.4
Cole, T.R.P.5
Das, S.6
Horn, D.7
Hughes, H.E.8
Temple, I.K.9
Faravelli, F.10
Waggoner, D.11
Turkmen, S.12
Cormier-Daire, V.13
Irrthum, A.14
Rahman, N.15
-
19
-
-
1642416884
-
Targeted ablation of Fgf23 demonstrates an essential physiological role of FGF23 in phosphate and vitamin D metabolism
-
DOI 10.1172/JCI200419081
-
Shimada T, Kakitani M, Yamazaki Y, et al. Targeted ablation of Fgf23 demonstrates an essential physiological role of FGF23 in phosphate and vitaminDmetabolism. J Clin Invest. 2004;113:561-568. (Pubitemid 38542505)
-
(2004)
Journal of Clinical Investigation
, vol.113
, Issue.4
, pp. 561-568
-
-
Shimada, T.1
Kakitani, M.2
Yamazaki, Y.3
Hasegawa, H.4
Takeuchi, Y.5
Fujita, T.6
Fukumoto, S.7
Tomizuka, K.8
Yamashita, T.9
-
20
-
-
80054930335
-
PTH ablation ameliorates the anomalies of Fgf23-deficient mice by suppressing the elevated vitamin D and calcium levels
-
Yuan Q, Sitara D, Sato T, et al. PTH ablation ameliorates the anomalies of Fgf23-deficient mice by suppressing the elevated vitamin D and calcium levels. Endocrinology. 2011;152:4053-4061.
-
(2011)
Endocrinology
, vol.152
, pp. 4053-4061
-
-
Yuan, Q.1
Sitara, D.2
Sato, T.3
-
21
-
-
0030724491
-
Mutation of the mouse klotho gene leads to a syndrome resembling ageing
-
DOI 10.1038/36285
-
Kuro-o M, Matsumura Y, Aizawa H, et al. Mutation of the mouse klotho gene leads to a syndrome resembling ageing. Nature. 1997;390:45-51. (Pubitemid 27494749)
-
(1997)
Nature
, vol.390
, Issue.6655
, pp. 45-51
-
-
Kuro-o, M.1
Matsumura, Y.2
Aizawa, H.3
Kawaguchi, H.4
Suga, T.5
Utsugi, T.6
Ohyama, Y.7
Kurabayashi, M.8
Kaname, T.9
Kume, E.10
Iwasaki, H.11
Iida, A.12
Shiraki-Iida, T.13
Nishikawa, S.14
Nagai, R.15
Nabeshima, Y.-I.16
-
22
-
-
59649091992
-
In vivo genetic evidence for klotho-dependent, fibroblast growth factor 23 (Fgf23)-mediated regulation of systemic phosphate homeostasis
-
Nakatani T, Sarraj B, Ohnishi M, et al. In vivo genetic evidence for klotho-dependent, fibroblast growth factor 23 (Fgf23)-mediated regulation of systemic phosphate homeostasis. FASEB J. 2009;23:433-441.
-
(2009)
FASEB J
, vol.23
, pp. 433-441
-
-
Nakatani, T.1
Sarraj, B.2
Ohnishi, M.3
-
23
-
-
84894517515
-
Loss of Memo, a novel FGFR regulator, results in reduced lifespan
-
Haenzi B, Bonny O, Masson R, et al. Loss of Memo, a novel FGFR regulator, results in reduced lifespan. FASEB J. 2014;28(1):327-336.
-
(2014)
FASEB J
, vol.28
, Issue.1
, pp. 327-336
-
-
Haenzi, B.1
Bonny, O.2
Masson, R.3
-
24
-
-
0033405018
-
Expression and localization of fibroblast growth factors and fibroblast growth factor receptors in the developing rat kidney
-
DOI 10.1046/j.1523-1755.1999.00781.x
-
Cancilla B, Ford-Perriss MD, Bertram JF. Expression and localization of fibroblast growth factors and fibroblast growth factor receptors in the developing rat kidney. Kidney Int. 1999;56:2025-2039. (Pubitemid 30004731)
-
(1999)
Kidney International
, vol.56
, Issue.6
, pp. 2025-2039
-
-
Cancilla, B.1
Ford-Perriss, M.D.2
Bertram, J.F.3
-
25
-
-
0030953205
-
Expression of fibroblast growth factors and their receptors in rat glomeruli
-
Ford MD, Cauchi J, Greferath U, Bertram JF. Expression of fibroblast growth factors and their receptors in rat glomeruli. Kidney Int. 1997;51:1729-1738. (Pubitemid 27252740)
-
(1997)
Kidney International
, vol.51
, Issue.6
, pp. 1729-1738
-
-
Ford, M.D.1
Cauchi, J.2
Greferath, U.3
Bertram, J.F.4
-
26
-
-
0038078293
-
Temporal and spatial expression of fibroblast growth factor receptor 4 isoforms in murine tissues
-
DOI 10.1023/A:1023326524562
-
Cool SM, Sayer RE, van Heumen WR, Pickles JO, Nurcombe V. Temporal and spatial expression of fibroblast growth factor receptor 4 isoforms in murine tissues. Histochem J. 2002;34:291-297. (Pubitemid 36543072)
-
(2002)
Histochemical Journal
, vol.34
, Issue.6-7
, pp. 291-297
-
-
Cool, S.M.1
Sayer, R.E.2
Van Heumen, W.R.3
Pickles, J.O.4
Nurcombe, V.5
-
27
-
-
84871233875
-
Expression of fgf23 and αklotho in developing embryonic tissues and adult kidney of the zebrafish, Danio rerio
-
Mangos S, Amaral AP, Faul C, Juppner H, Reiser J, Wolf M. Expression of fgf23 and αklotho in developing embryonic tissues and adult kidney of the zebrafish, Danio rerio. Nephrol Dial Transplant. 2012;27:4314-4322.
-
(2012)
Nephrol Dial Transplant
, vol.27
, pp. 4314-4322
-
-
Mangos, S.1
Amaral, A.P.2
Faul, C.3
Juppner, H.4
Reiser, J.5
Wolf, M.6
-
28
-
-
0025778586
-
FGFR-4, a novel acidic fibroblast growth factor receptor with a distinct expression pattern
-
Partanen J, Makela TP, Claesson-Welsh L, et al. FGFR-4, a novel acidic fibroblast growth factor receptor with a distinct expression pattern. EMBO J. 1991;10:1347-1354. (Pubitemid 21905599)
-
(1991)
EMBO Journal
, vol.10
, Issue.6
, pp. 1347-1354
-
-
Partanen, J.1
Makela, T.P.2
Eerola, E.3
Korhonen, J.4
Hirvonen, H.5
Claesson-Welsh, L.6
Alitalo, K.7
-
29
-
-
0026648141
-
Expression of FGFR-4 mRNA in developing mouse tissues
-
Korhonen J, Partanen J, Alitalo K. Expression of FGFR-4 mRNA in developing mouse tissues. Int J Dev Biol. 1992;36:323-329.
-
(1992)
Int J Dev Biol
, vol.36
, pp. 323-329
-
-
Korhonen, J.1
Partanen, J.2
Alitalo, K.3
|