-
2
-
-
0026088326
-
The oculocerebrorenal syndrome of Lowe
-
Charnas L.R., and Gahl W.A. The oculocerebrorenal syndrome of Lowe. Adv Pediatr 38 (1991) 75-107
-
(1991)
Adv Pediatr
, vol.38
, pp. 75-107
-
-
Charnas, L.R.1
Gahl, W.A.2
-
3
-
-
0017673453
-
Opacities of the lens indicating carrier status in the oculo-cerebro-renal (Lowe) syndrome
-
Delleman J.W., Bleeker-Wagemakers E.M., and van Veelen A.W. Opacities of the lens indicating carrier status in the oculo-cerebro-renal (Lowe) syndrome. J Pediatr Ophthalmol 14 (1977) 205-212
-
(1977)
J Pediatr Ophthalmol
, vol.14
, pp. 205-212
-
-
Delleman, J.W.1
Bleeker-Wagemakers, E.M.2
van Veelen, A.W.3
-
4
-
-
0042885810
-
End-stage renal failure in Lowe syndrome
-
Tricot L., Yahiaoui Y., Teixeira L., Benabdallah L., Rothschild E., Juquel J.P., et al. End-stage renal failure in Lowe syndrome. Nephrol Dial Transplant 18 (2003) 1923-1925
-
(2003)
Nephrol Dial Transplant
, vol.18
, pp. 1923-1925
-
-
Tricot, L.1
Yahiaoui, Y.2
Teixeira, L.3
Benabdallah, L.4
Rothschild, E.5
Juquel, J.P.6
-
6
-
-
0026001405
-
Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint
-
Mueller O.T., Hartsfield Jr. J.K., Gallardo L.A., Essig Y.P., Miller K.L., Papenhausen P.R., et al. Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint. Am J Hum Genet 49 (1991) 804-810
-
(1991)
Am J Hum Genet
, vol.49
, pp. 804-810
-
-
Mueller, O.T.1
Hartsfield Jr., J.K.2
Gallardo, L.A.3
Essig, Y.P.4
Miller, K.L.5
Papenhausen, P.R.6
-
7
-
-
33748066001
-
Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases
-
Hyvola N., Diao A., McKenzie E., Skippen A., Cockcroft S., and Lowe M. Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases. EMBO J 25 (2006) 3750-3761
-
(2006)
EMBO J
, vol.25
, pp. 3750-3761
-
-
Hyvola, N.1
Diao, A.2
McKenzie, E.3
Skippen, A.4
Cockcroft, S.5
Lowe, M.6
-
8
-
-
0029120280
-
The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex
-
Olivos-Glander I.M., Jänne P.A., and Nussbaum R.L. The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex. Am J Hum Genet 57 (1995) 817-823
-
(1995)
Am J Hum Genet
, vol.57
, pp. 817-823
-
-
Olivos-Glander, I.M.1
Jänne, P.A.2
Nussbaum, R.L.3
-
9
-
-
23844552808
-
Structure and function of the Lowe syndrome protein OCRL1
-
Lowe M. Structure and function of the Lowe syndrome protein OCRL1. Traffic 6 (2005) 711-719
-
(2005)
Traffic
, vol.6
, pp. 711-719
-
-
Lowe, M.1
-
11
-
-
0028186416
-
Lowe's syndrome: review of literature and report of case
-
Thomas G.P., and Grimm III S.E. Lowe's syndrome: review of literature and report of case. ASDC J Dent Child 61 (1994) 68-70
-
(1994)
ASDC J Dent Child
, vol.61
, pp. 68-70
-
-
Thomas, G.P.1
Grimm III, S.E.2
-
12
-
-
0031265510
-
Dental findings in an adult with Lowe's syndrome
-
Tsai S.J., and O'Donnell D. Dental findings in an adult with Lowe's syndrome. Spec Care Dentist 17 (1997) 207-210
-
(1997)
Spec Care Dentist
, vol.17
, pp. 207-210
-
-
Tsai, S.J.1
O'Donnell, D.2
-
13
-
-
0028395123
-
Enlarged dental follicles, a follicular cyst, and enamel hypoplasia in a patient with Lowe syndrome
-
Roberts M.W., Blakey G.H., Jacoway J.R., Chen S.C., and Morris C.R. Enlarged dental follicles, a follicular cyst, and enamel hypoplasia in a patient with Lowe syndrome. Oral Surg Oral Med Oral Pathol 77 (1994) 264-265
-
(1994)
Oral Surg Oral Med Oral Pathol
, vol.77
, pp. 264-265
-
-
Roberts, M.W.1
Blakey, G.H.2
Jacoway, J.R.3
Chen, S.C.4
Morris, C.R.5
-
14
-
-
85047676713
-
Tooth anomalies associated with failure of eruption of first and second permanent molars
-
Baccetti T. Tooth anomalies associated with failure of eruption of first and second permanent molars. Am J Orthod Dentofacial Orthop 118 (2000) 608-610
-
(2000)
Am J Orthod Dentofacial Orthop
, vol.118
, pp. 608-610
-
-
Baccetti, T.1
-
16
-
-
34547258647
-
Oculocerebrorenal Lowe syndrome: a literature review and two case reports
-
Rodrigues Santos M.T., Watanabe M.M., Manzano F.S., Lopes C.H., and Masiero D. Oculocerebrorenal Lowe syndrome: a literature review and two case reports. Spec Care Dentist 27 (2007) 108-111
-
(2007)
Spec Care Dentist
, vol.27
, pp. 108-111
-
-
Rodrigues Santos, M.T.1
Watanabe, M.M.2
Manzano, F.S.3
Lopes, C.H.4
Masiero, D.5
-
17
-
-
0034532819
-
Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome
-
Peverall J., Edkins E., Goldblatt J., and Murch A. Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome. Clin Genet 58 (2000) 479-482
-
(2000)
Clin Genet
, vol.58
, pp. 479-482
-
-
Peverall, J.1
Edkins, E.2
Goldblatt, J.3
Murch, A.4
-
18
-
-
18344416478
-
Lowe syndrome with anal atresia: a possible variant of OCRL?
-
Sönmez F., Temoçýn A.K., Özkan S.B., Akçanal B., Karaman C.Z., Türkmen M., et al. Lowe syndrome with anal atresia: a possible variant of OCRL?. Pediatr Int 45 (2003) 201-204
-
(2003)
Pediatr Int
, vol.45
, pp. 201-204
-
-
Sönmez, F.1
Temoçýn, A.K.2
Özkan, S.B.3
Akçanal, B.4
Karaman, C.Z.5
Türkmen, M.6
-
19
-
-
0006788914
-
-
Lowe's Syndrome Association, West Lafayette, IN
-
McSpadden K., Dolinsky Z., and Schroerlucke K. Report on the Lowe's syndrome comprehensive survey (1991), Lowe's Syndrome Association, West Lafayette, IN 1-46
-
(1991)
Report on the Lowe's syndrome comprehensive survey
, pp. 1-46
-
-
McSpadden, K.1
Dolinsky, Z.2
Schroerlucke, K.3
-
20
-
-
34250318800
-
Lowe's syndrome
-
[letter]
-
Dundas J.B. Lowe's syndrome. [letter]. Proc R Soc Med 57 (1964) 837
-
(1964)
Proc R Soc Med
, vol.57
, pp. 837
-
-
Dundas, J.B.1
-
23
-
-
1342281808
-
Eruptive vellus hair cysts in a patient with Lowe syndrome
-
Nandedkar M.A., Minus H., and Nandedkar M.A. Eruptive vellus hair cysts in a patient with Lowe syndrome. Pediatr Dermatol 21 (2004) 54-57
-
(2004)
Pediatr Dermatol
, vol.21
, pp. 54-57
-
-
Nandedkar, M.A.1
Minus, H.2
Nandedkar, M.A.3
-
24
-
-
0015442582
-
Lowe's syndrome. A clinical study of four cases
-
Vis H.L., Vainsel M., Willaert H., and Meur G. Lowe's syndrome. A clinical study of four cases. Pathol Eur 7 (1972) 307-319
-
(1972)
Pathol Eur
, vol.7
, pp. 307-319
-
-
Vis, H.L.1
Vainsel, M.2
Willaert, H.3
Meur, G.4
-
25
-
-
0026646556
-
Radiological cases of the month. Lowe (oculocerebrorenal) syndrome
-
Loughead J.L., Mimouni F., Shiling S., and Wood B.P. Radiological cases of the month. Lowe (oculocerebrorenal) syndrome. Am J Dis Child 146 (1992) 1209-1210
-
(1992)
Am J Dis Child
, vol.146
, pp. 1209-1210
-
-
Loughead, J.L.1
Mimouni, F.2
Shiling, S.3
Wood, B.P.4
-
26
-
-
0015442531
-
Picture of the month. Oculocerebrorenal syndrome (Lowe syndrome)
-
Gellis S.S., and Feingold M. Picture of the month. Oculocerebrorenal syndrome (Lowe syndrome). Am J Dis Child 124 (1972) 891-892
-
(1972)
Am J Dis Child
, vol.124
, pp. 891-892
-
-
Gellis, S.S.1
Feingold, M.2
-
27
-
-
0034684719
-
Unusual renal features of Lowe syndrome in a mildly affected boy
-
Gropman A., Levin S., Yao L., Lin T., Suchy S., Sabnis S., et al. Unusual renal features of Lowe syndrome in a mildly affected boy. Am J Med Genet 95 (2000) 461-466
-
(2000)
Am J Med Genet
, vol.95
, pp. 461-466
-
-
Gropman, A.1
Levin, S.2
Yao, L.3
Lin, T.4
Suchy, S.5
Sabnis, S.6
-
28
-
-
33745699760
-
Foetal alcohol syndrome: a cephalometric analysis of patients and controls
-
Naidoo S., Harris A., Swanevelder S., and Lombard C. Foetal alcohol syndrome: a cephalometric analysis of patients and controls. Eur J Orthod 28 (2006) 254-261
-
(2006)
Eur J Orthod
, vol.28
, pp. 254-261
-
-
Naidoo, S.1
Harris, A.2
Swanevelder, S.3
Lombard, C.4
|