-
1
-
-
59649096253
-
Oral anomalies associated with the oculocerebrorenal syndrome of Lowe: Case report with multiple unerupted teeth and pericoronal radiolucencies
-
J.K. Brooks, and R. Ahmad Oral anomalies associated with the oculocerebrorenal syndrome of Lowe: case report with multiple unerupted teeth and pericoronal radiolucencies Oral Surg Oral Med Oral Pathol Oral Radiol Endod 107 2009 e32 e35
-
(2009)
Oral Surg Oral Med Oral Pathol Oral Radiol Endod
, vol.107
-
-
Brooks, J.K.1
Ahmad, R.2
-
2
-
-
0000623605
-
Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation: A clinical entity
-
C.U. Lowe, M. Terrey, and L.E. Mac Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation: a clinical entity AMA Am J Dis Child 83 1952 164 184
-
(1952)
AMA Am J Dis Child
, vol.83
, pp. 164-184
-
-
Lowe, C.U.1
Terrey, M.2
Mac, L.E.3
-
3
-
-
0023320251
-
Update: Lowe's syndrome
-
R.S. Wappner Update: Lowe's syndrome Compr Ther 13 1987 3 4
-
(1987)
Compr Ther
, vol.13
, pp. 3-4
-
-
Wappner, R.S.1
-
5
-
-
0030971762
-
Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome
-
T. Lin, B.M. Orrison, A.M. Leahey, S.F. Suchy, D.J. Bernard, and R.A. Lewis Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome Am J Hum Genet 60 1997 1384 1388 (Pubitemid 27258070)
-
(1997)
American Journal of Human Genetics
, vol.60
, Issue.6
, pp. 1384-1388
-
-
Lin, T.1
Orison, B.M.2
Leahey, A.-M.3
Suchy, S.F.4
Bernard, D.J.5
Lewis, R.A.6
Nussbaum, R.L.7
-
6
-
-
0032072943
-
Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients
-
DOI 10.1006/mgme.1998.2687
-
T. Lin, B.M. Orrison, S.F. Suchy, R.A. Lewis, and R.L. Nussbaum Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients Mol Genet Metab 64 1998 58 61 (Pubitemid 28453319)
-
(1998)
Molecular Genetics and Metabolism
, vol.64
, Issue.1
, pp. 58-61
-
-
Lin, T.1
Orrison, B.M.2
Suchy, S.F.3
Lewis, R.A.4
Nussbaum, R.L.5
-
7
-
-
51849147881
-
Mutations in OCRL1 gene in Indian children with Lowe syndrome
-
S.K. Sethi, A. Bagga, A. Gulati, P. Hari, N. Gupta, and J. Lunardi Mutations in OCRL1 gene in Indian children with Lowe syndrome Clin Exp Nephrol 12 2008 358 362
-
(2008)
Clin Exp Nephrol
, vol.12
, pp. 358-362
-
-
Sethi, S.K.1
Bagga, A.2
Gulati, A.3
Hari, P.4
Gupta, N.5
Lunardi, J.6
-
8
-
-
70449417630
-
Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase
-
B.G. Coon, D. Mukherjee, C.B. Hanna, D.J. Riese 2nd, M. Lowe, and R.C. Aguilar Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase Hum Mol Genet 18 2009 4478 4491
-
(2009)
Hum Mol Genet
, vol.18
, pp. 4478-4491
-
-
Coon, B.G.1
Mukherjee, D.2
Hanna, C.B.3
Riese II, D.J.4
Lowe, M.5
Aguilar, R.C.6
-
9
-
-
0029060795
-
The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5- bisphosphate 5-phosphatase
-
X. Zhang, A.B. Jefferson, V. Auethavekiat, and P.W. Majerus The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase Proc Natl Acad Sci U S A 92 1995 4853 4856
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 4853-4856
-
-
Zhang, X.1
Jefferson, A.B.2
Auethavekiat, V.3
Majerus, P.W.4
-
10
-
-
0028880052
-
Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus
-
S.F. Suchy, I.M. Olivos-Glander, and R.L. Nussabaum Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus Hum Mol Genet 4 1995 2245 2250
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2245-2250
-
-
Suchy, S.F.1
Olivos-Glander, I.M.2
Nussabaum, R.L.3
-
12
-
-
0025633730
-
Lowe syndrome: Clinical and neuropathological studies of an adult case
-
P. Giannakopoulos, C. Bouras, P. Vallet, and J. Constantinidis Lowe syndrome: clinical and neuropathological studies of an adult case J Ment Defic Res 34 Pt 6 1990 491 500
-
(1990)
J Ment Defic Res
, vol.34
, Issue.PART 6
, pp. 491-500
-
-
Giannakopoulos, P.1
Bouras, C.2
Vallet, P.3
Constantinidis, J.4
-
14
-
-
0038774231
-
The oculo-cerebro-renal syndrome of Lowe
-
W. Richards, G.N. Donnell, W.A. Wilson, D. Stowens, and T. Perry The oculo-cerebro-renal syndrome of Lowe Am J Dis Child 109 1965 185 203
-
(1965)
Am J Dis Child
, vol.109
, pp. 185-203
-
-
Richards, W.1
Donnell, G.N.2
Wilson, W.A.3
Stowens, D.4
Perry, T.5
-
15
-
-
0022628074
-
Orthopedic manifestations of the Lowe (oculocerebrorenal) syndrome
-
J.L. Holtgrewe, and V. Kalen Orthopedic manifestations of the Lowe (oculocerebrorenal) syndrome J Pediatr Orthop 6 1986 165 171 (Pubitemid 16154039)
-
(1986)
Journal of Pediatric Orthopaedics
, vol.6
, Issue.2
, pp. 165-171
-
-
Holtgrewe, J.L.1
Kalen, V.2
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