-
1
-
-
74849117906
-
Williams-Beuren syndrome
-
Pober BR. Williams-Beuren syndrome. N Engl J Med. 2010;362(3):239-252
-
(2010)
N Engl J Med
, vol.362
, Issue.3
, pp. 239-252
-
-
Pober, B.R.1
-
3
-
-
77953980857
-
Copy number variants at Williams-Beuren syndrome 7q11.23 region
-
Merla G, Brunetti-Pierri N, Micale L, Fusco C. Copy number variants at Williams-Beuren syndrome 7q11.23 region. Hum Genet. 2010;128(1):3-26
-
(2010)
Hum Genet
, vol.128
, Issue.1
, pp. 3-26
-
-
Merla, G.1
Brunetti-Pierri, N.2
Micale, L.3
Fusco, C.4
-
4
-
-
0027185655
-
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
-
DOI 10.1038/ng0993-11
-
Ewart AK, Morris CA, Atkinson D, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet. 1993;5(1):11-16 (Pubitemid 23261511)
-
(1993)
Nature Genetics
, vol.5
, Issue.1
, pp. 11-16
-
-
Ewart, A.K.1
Morris, C.A.2
Atkinson, D.3
Jin, W.4
Sternes, K.5
Spallone, P.6
Stock, A.D.7
Leppert, M.8
Keating, M.T.9
-
5
-
-
27444443019
-
Severe type of infantile hypercalcaemia
-
Schlesinger BE, Butler NR, Black JA. Severe type of infantile hypercalcaemia. BMJ. 1956;1(4959):127-134
-
(1956)
BMJ
, vol.1
, Issue.4959
, pp. 127-134
-
-
Schlesinger, B.E.1
Butler, N.R.2
Black, J.A.3
-
7
-
-
0001447853
-
Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance
-
Beuren AJ, Apitz J, Harmjanz D. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation. 1962;26:1235-1240
-
(1962)
Circulation
, vol.26
, pp. 1235-1240
-
-
Beuren, A.J.1
Apitz, J.2
Harmjanz, D.3
-
8
-
-
21144432660
-
Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population
-
DOI 10.1203/01.PDR.0000157675.06850.68
-
Amenta S, Sofocleous C, Kolialexi A, et al. Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population. Pediatr Res. 2005;57(6):789-795 (Pubitemid 40727107)
-
(2005)
Pediatric Research
, vol.57
, Issue.6
, pp. 789-795
-
-
Amenta, S.1
Sofocleous, C.2
Kolialexi, A.3
Thomaidis, L.4
Giouroukos, S.5
Karavitakis, E.6
Mavrou, A.7
Kitsiou, S.8
Kanavakis, E.9
Fryssira, H.10
-
9
-
-
16644403493
-
Severe infantile hypercalcemia associated with williams syndrome successfully treated with intravenously administered pamidronate
-
DOI 10.1542/peds.2003-1146-L
-
Cagle AP, Waguespack SG, Buckingham BA, Shankar RR, Dimeglio LA. Severe infantile hypercalcemia associated with Williams syndrome successfully treated with intravenously administered pamidronate. Pediatrics. 2004;114(4):1091-1095 (Pubitemid 41529782)
-
(2004)
Pediatrics
, vol.114
, Issue.4
, pp. 1091-1095
-
-
Cagle, A.P.1
Waguespack, S.G.2
Buckingham, B.A.3
Ravi, S.R.4
Dimeglio, L.A.5
-
10
-
-
0026451652
-
Calcium metabolism in Williams-Beuren syndrome
-
Kruse K, Pankau R, Gosch A, Wohlfahrt K. Calcium metabolism in Williams-Beuren syndrome. J Pediatr. 1992;121(6):902-907
-
(1992)
J Pediatr
, vol.121
, Issue.6
, pp. 902-907
-
-
Kruse, K.1
Pankau, R.2
Gosch, A.3
Wohlfahrt, K.4
-
11
-
-
21644461779
-
Multisystem study of 20 older adults with Williams syndrome
-
Cherniske EM, Carpenter TO, Klaiman C, et al. Multisystem study of 20 older adults with Williams syndrome. Am J Med Genet A. 2004;131(3):255-264
-
(2004)
Am J Med Genet A
, vol.131
, Issue.3
, pp. 255-264
-
-
Cherniske, E.M.1
Carpenter, T.O.2
Klaiman, C.3
-
12
-
-
0034243627
-
Screening for osteoporosis in community-dwelling adults with mental retardation
-
Tyler CV Jr, Snyder CW, Zyzanski S. Screening for osteoporosis in community-dwelling adults with mental retardation. Ment Retard. 2000;38(4):316-321
-
(2000)
Ment Retard
, vol.38
, Issue.4
, pp. 316-321
-
-
Tyler Jr., C.V.1
Snyder, C.W.2
Zyzanski, S.3
-
13
-
-
0027311316
-
Renal findings in 40 individuals with Williams syndrome
-
Pober BR, Lacro RV, Rice C, Mandell V, Teele RL. Renal findings in 40 individuals with Williams syndrome. Am J Med Genet. 1993;46(3):271-274 (Pubitemid 23132921)
-
(1993)
American Journal of Medical Genetics
, vol.46
, Issue.3
, pp. 271-274
-
-
Pober, B.R.1
Lacro, R.V.2
Rice, C.3
Mandell, V.4
Teele, R.L.5
-
14
-
-
77952766056
-
Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile
-
Antonell A, Del Campo M, Magano LF, et al. Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile. J Med Genet. 2010;47(5):312-320
-
(2010)
J Med Genet
, vol.47
, Issue.5
, pp. 312-320
-
-
Antonell, A.1
Del Campo, M.2
Magano, L.F.3
-
15
-
-
33749646106
-
Action of TFII-I outside the nucleus as an inhibitor of agonist-induced calcium entry
-
DOI 10.1126/science.1127815
-
Caraveo G, van Rossum DB, Patterson RL, Snyder SH, Desiderio S. Action of TFII-I outside the nucleus as an inhibitor of agonist-induced calcium entry. Science. 2006;314(5796):122-125 (Pubitemid 44547755)
-
(2006)
Science
, vol.314
, Issue.5796
, pp. 122-125
-
-
Caraveo, G.1
Van Rossum, D.B.2
Patterson, R.L.3
Snyder, S.H.4
Desiderio, S.5
-
16
-
-
33646585142
-
Identification and localization of TRPC channels in the rat kidney
-
DOI 10.1152/ajprenal.00376.2005
-
Goel M, Sinkins WG, Zuo CD, Estacion M, Schilling WP. Identification and localization of TRPC channels in the rat kidney. Am J Physiol Renal Physiol. 2006;290(5):F1241-F1252 (Pubitemid 43724925)
-
(2006)
American Journal of Physiology - Renal Physiology
, vol.290
, Issue.5
-
-
Goel, M.1
Sinkins, W.G.2
Zuo, C.-D.3
Estacion, M.4
Schilling, W.P.5
-
17
-
-
36049052055
-
Vasopressin-induced membrane trafficking of TRPC3 and AQP2 channels in cells of the rat renal collecting duct
-
DOI 10.1152/ajprenal.00186.2007
-
Goel M, Sinkins WG, Zuo CD, Hopfer U, Schilling WP. Vasopressin-induced membrane trafficking of TRPC3 and AQP2 channels in cells of the rat renal collecting duct. Am J Physiol Renal Physiol. 2007;293(5):F1476-F1488 (Pubitemid 350085983)
-
(2007)
American Journal of Physiology - Renal Physiology
, vol.293
, Issue.5
-
-
Goel, M.1
Sinkins, W.G.2
Zuo, C.-D.3
Hopfer, U.4
Schilling, W.P.5
-
18
-
-
77950809825
-
Role of cAMP/PKA signaling cascade in vasopressininduced trafficking of TRPC3 channels in principal cells of the collecting duct
-
Goel M, Zuo CD, Schilling WP. Role of cAMP/PKA signaling cascade in vasopressininduced trafficking of TRPC3 channels in principal cells of the collecting duct. Am J Physiol Renal Physiol. 2010;298(4):F988-F996
-
(2010)
Am J Physiol Renal Physiol
, vol.298
, Issue.4
-
-
Goel, M.1
Zuo, C.D.2
Schilling, W.P.3
-
19
-
-
79952201834
-
Involvement of claudin 3 and claudin 4 in idiopathic infantile hypercalcaemia: A novel hypothesis?
-
Lameris AL, Huybers S, Burke JR, Monnens LA, Bindels RJ, Hoenderop JG. Involvement of claudin 3 and claudin 4 in idiopathic infantile hypercalcaemia: a novel hypothesis? Nephrol Dial Transplant. 2010;25(11):3504-3509
-
(2010)
Nephrol Dial Transplant
, vol.25
, Issue.11
, pp. 3504-3509
-
-
Lameris, A.L.1
Huybers, S.2
Burke, J.R.3
Monnens, L.A.4
Bindels, R.J.5
Hoenderop, J.G.6
-
20
-
-
79961102329
-
Mutations in CYP24A1 and idiopathic infantile hypercalcemia
-
Schlingmann KP, Kaufmann M, Weber S, et al. Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med. 2011;365(5):410-421
-
(2011)
N Engl J Med
, vol.365
, Issue.5
, pp. 410-421
-
-
Schlingmann, K.P.1
Kaufmann, M.2
Weber, S.3
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