-
1
-
-
61649098176
-
Reno-prevention vs. renoprotection: A critical re-appraisal of the evidence- base from the large RAAS blockade trials after ONTARGET - A call for more circumspection
-
Onuigbo MAC: Reno-prevention vs. renoprotection: A critical re-appraisal of the evidence- base from the large RAAS blockade trials after ONTARGET - a call for more circumspection. Q J Med 2009; 102: 155-167.
-
(2009)
Q J Med
, vol.102
, pp. 155-167
-
-
Onuigbo, M.A.C.1
-
2
-
-
72849184034
-
Idiopathic chronic megaloblastic anemia in children
-
Imerslund O: Idiopathic chronic megaloblastic anemia in children. Acta Paediatr 1960; 49: 1-115.
-
(1960)
Acta Paediatr
, vol.49
, pp. 1-115
-
-
Imerslund, O.1
-
3
-
-
0001601083
-
Selective vitamin B 12 malabsorption and proteinuria in young people
-
Grasbech R, Gordin R, Kantero I, Kublaback B: Selective vitamin B 12 malabsorption and proteinuria in young people. Acta Med Scand 1960; 167: 289-296.
-
(1960)
Acta Med Scand
, vol.167
, pp. 289-296
-
-
Grasbech, R.1
Gordin, R.2
Kantero, I.3
Kublaback, B.4
-
4
-
-
0019444602
-
Failure to thrive associated with the Imerslund-Grasbeck syndrome
-
Campbell AN, Inglis J, Paynter AS: Failure to thrive associated with Imerslund-Grasbeck syndrome. Postgrad Med J 1981; 57: 509-510. (Pubitemid 11087614)
-
(1981)
Postgraduate Medical Journal
, vol.57
, Issue.670
, pp. 509-510
-
-
Campbell, A.N.1
Inglis, J.2
Paynter, A.S.3
-
5
-
-
0033051889
-
12 receptor, cubilin, cause hereditary megaloblastic anaemia 1
-
DOI 10.1038/6831
-
Aminoff M, Carter JE, Chakwick RB, Johnson C, Grasbeck R, Abdelaal MA, Broch H, Jenner LB, Verroust PJ, Moestrup SL, de la Chanpelle A, Krahe R: Mutations in CUBL, encoding the intrinsic-factor-vitamin B 12 receptor, cubilin, cause hereditary megaloblastic anemia. Nat Genet 1999; 21: 309-313. (Pubitemid 29124941)
-
(1999)
Nature Genetics
, vol.21
, Issue.3
, pp. 309-313
-
-
Aminoff, M.1
Carter, J.E.2
Chadwick, R.B.3
Johnson, C.4
Grasbeck, R.5
Abdelaal, M.A.6
Broch, H.7
Jenner, L.B.8
Verroust, P.J.9
Moestrup, S.K.10
De La Chapelle, A.11
Krahe, R.12
-
6
-
-
0037371866
-
Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia
-
DOI 10.1038/ng1098
-
Tanner SM, Aminoff M, Wright FA, Liyanarachchi S, Kuronen M, Saarinen A, Massika O, Mandel H, Broch H, de la Chanpelle A: Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. Nat Genet 2003; 33: 426-429. (Pubitemid 36278863)
-
(2003)
Nature Genetics
, vol.33
, Issue.3
, pp. 426-429
-
-
Tanner, S.M.1
Aminoff, M.2
Wright, F.A.3
Liyanarachchi, S.4
Kuronen, M.5
Saarinen, A.6
Massika, O.7
Mandel, H.8
Broch, H.9
De La Chapelle, A.10
-
7
-
-
0031576218
-
12 and binds receptor-associated protein
-
DOI 10.1074/jbc.272.42.26497
-
Birn H, Verroust PJ, Nexo E, Hager H, Jacobsen C, Christensen EI, Moestrup SK: Characterization of an epithelial approximately 460kDa protein that facilitates endocytosis of IF-B12 and binds receptor-associated protein. J Biol Chem 1997; 272: 26497-26504. (Pubitemid 27458869)
-
(1997)
Journal of Biological Chemistry
, vol.272
, Issue.42
, pp. 26497-26504
-
-
Birn, H.1
Verroust, P.J.2
Nexo, E.3
Hager, H.4
Jacobsen, C.5
Christensen, E.I.6
Moestrup, S.K.7
-
8
-
-
0036816415
-
Linkage analysis of a large inbred family with congenital megaloblastic anemia
-
Al-Alami JR, Tayeh MK, Al-Sheyyab MY, El- Shanti HI: Linkage analysis of a large inbred family with congenital megaloblastic anemia. Saudi Med J 2002; 23: 1251-1256. (Pubitemid 35446587)
-
(2002)
Saudi Medical Journal
, vol.23
, Issue.10
, pp. 1251-1256
-
-
Al-Alami, J.R.1
Tayeh, M.K.2
Al-Sheyyab, M.Y.3
El-Shanti, H.I.4
-
9
-
-
11144354849
-
12: Founder Effects, Consanguinity, and High Clinical Awareness Explain Aggregations in Scandinavia and the Middle East
-
DOI 10.1002/humu.20014
-
Tanner SM, Li Z, Bisson R, Acar C, Oner C, Oner R, Cetin M, Abdelaal MA, Ismail EA, Lissens W, Krahe R, Broch H, Grasbeck R, de la Chapelle A: Genetically heterogeneous selective intestinal malabsorption of vitamin B 12 : Founder effects, consanguinity and high clinical awareness explain aggregation in Scandinavia and the Middle East. Hum Mutat 2004; 23: 327-333. (Pubitemid 38461514)
-
(2004)
Human Mutation
, vol.23
, Issue.4
, pp. 327-333
-
-
Tanner, S.M.1
Li, Z.2
Bisson, R.3
Acar, C.4
Oner, C.5
Oner, R.6
Cetin, M.7
Abdelaal, M.A.8
Ismail, E.A.9
Lissens, W.10
Krahe, R.11
Broch, H.12
Grasbeck, R.13
De La Chapelle, A.14
-
10
-
-
0015514085
-
Familial selective B 12 malabsorption
-
Grasbeck R: Familial selective B 12 malabsorption. N Engl J Med 1972; 287: 358.
-
(1972)
N Engl J Med
, vol.287
, pp. 358
-
-
Grasbeck, R.1
-
11
-
-
18144444189
-
12 malabsorption
-
Wahlstedt-Froberg V, Pettersson T, Aminoff M, Dugue B, Grasbeck R: Proteinuria in cubilin- deficient patients with selective vitamin B 12 malabsorption. Pediatr Nephrol 2003; 18: 417-421. (Pubitemid 36798482)
-
(2003)
Pediatric Nephrology
, vol.18
, Issue.5
, pp. 417-421
-
-
Wahlstedt-Froberg, V.1
Pettersson, T.2
Aminoff, M.3
Dugue, B.4
Grasbeck, R.5
-
12
-
-
0029872276
-
Coat proteins and vesicle budding
-
Schekman R, Orci L: Coat proteins and vesicle budding. Science 1996; 271: 1526-1533. (Pubitemid 26097211)
-
(1996)
Science
, vol.271
, Issue.5255
, pp. 1526-1533
-
-
Schekman, R.1
Orci, L.2
-
13
-
-
0030988207
-
Identification of rat yolk sac target protein of teratogenic antibodies, gp280, as intrinsic factor-cobalamin receptor
-
Seetharam B, Chrestensen EI, Moestrup SK, Hammond TG, Verroust PJ: Identification of rat yolk sac target protein of teratogenic antibodies, gp280, an intrinsic factor-cobalamin receptor. J Clin Invest 1997; 99: 2317-2322. (Pubitemid 27227706)
-
(1997)
Journal of Clinical Investigation
, vol.99
, Issue.10
, pp. 2317-2322
-
-
Seetharam, B.1
Christensen, E.I.2
Moestrup, S.K.3
Hammond, T.G.4
Verroust, P.J.5
-
14
-
-
0036080704
-
12
-
Birn H, Willnow TE, Nielsen R, Norden AG, Borisch C, Moestrup SK, Nexo E, Christensen EI: Megalin is essential for renal proximal tubule reabsorption and accumulation of transcobalamin-B 12 Am J Physiol Renal Physiol 2002; 282:F408-F416. (Pubitemid 34654528)
-
(2002)
American Journal of Physiology - Renal Physiology
, vol.282
, Issue.3
-
-
Birn, H.1
Willnow, T.E.2
Nielsen, R.3
Norden, A.G.W.4
Bonsch, C.5
Moestrup, S.K.6
Nexo, E.7
Christensen, E.I.8
-
15
-
-
0035065591
-
The amnionless gene, essential for mouse gastrulation, encodes a visceral-endoderm-specific protein with an extracellular cysteine-rich domain
-
DOI 10.1038/86912
-
Kalantry s, Manning S, Haub O, Tomihara- Newberger C, Lee HG, Fangman J, Disteche CM, Manova K, Lacy E: The amnionless gene, essential for mouse gastulation, encodes a visceral endoderm-specific protein with an extracellular cysteine-rich domain. Nat Genet 2001; 27: 412-416. (Pubitemid 32268422)
-
(2001)
Nature Genetics
, vol.27
, Issue.4
, pp. 412-416
-
-
Kalantry, S.1
Manning, S.2
Haub, O.3
Tomihara-Newberger, C.4
Lee, H.-G.5
Fangman, J.6
Disteche, C.M.7
Manova, K.8
Lacy, E.9
-
16
-
-
1442357042
-
The functional cobalamin (B 12 )-IF receptor is a novel complex of cubilin and amnionless
-
Fyfe JC, Madsen M, Hujrup P, Christensen EI, Tanner SM, de la Champelle A, He C, Moestrup SK: The functional cobalamin (B 12 )-IF receptor is a novel complex of cubilin and amnionless. Blood 2004; 103: 1573-1578.
-
(2004)
Blood
, vol.103
, pp. 1573-1578
-
-
Fyfe, J.C.1
Madsen, M.2
Hujrup, P.3
Christensen, E.I.4
Tanner, S.M.5
De La Champelle, A.6
He, C.7
Moestrup, S.K.8
-
17
-
-
28444465484
-
Contribution of cubilin and amnionless to processing and membrane targeting of cubilin-amnionless complex
-
DOI 10.1681/ASN.2004110925
-
Caudroy G, Gburek J, Kozyraki R, Madsen M, Trugnan G, Moestrup SK, Verroust PJ, Maurice M: Contribution of cubilin and amnionless to processing and membrane targeting of cubilin/amnionless complex. J Am Soc Nephrol 2005; 16: 2330-2337. (Pubitemid 41725050)
-
(2005)
Journal of the American Society of Nephrology
, vol.16
, Issue.8
, pp. 2330-2337
-
-
Coudroy, G.1
Gburek, J.2
Kozyraki, R.3
Madsen, M.4
Trugnan, G.5
Moestrup, S.K.6
Verroust, P.J.7
Maurice, M.8
-
18
-
-
34547549299
-
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
-
DOI 10.1038/ng2063, PII NG2063
-
Kantarci S, Al-Gazali L, Hill RS, Donnai D, et al: Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai- Barrow and Facio-Oculo-Acoustico-Renal syndromes. Nat Genet 2007; 39: 957-959. (Pubitemid 47185171)
-
(2007)
Nature Genetics
, vol.39
, Issue.8
, pp. 957-959
-
-
Kantarci, S.1
Al-Gazali, L.2
Hill, R.S.3
Donnai, D.4
Black, G.C.M.5
Bieth, E.6
Chassaing, N.7
Lacombe, D.8
Devriendt, K.9
Teebi, A.10
Loscertales, M.11
Robson, C.12
Liu, T.13
MacLaughlin, D.T.14
Noonan, K.M.15
Russell, M.K.16
Walsh, C.A.17
Donahoe, P.K.18
Pober, B.R.19
-
19
-
-
33847277066
-
Genetic heterogeneity of megaloblastic anemia type 1 in Tunisian patients
-
Bouchlaka C, Maklout C, Mahjoub B, Ayadi A, Sfar MT, Sioud M, Gueddich N, Belhadjali Z, Rebai A, Abdelhak S, Dellagi K: Genetic heterogeneity of megaloblastic anemia type 1 in Tunisian patients. J Hum Genet 2007; 52: 262-270.
-
(2007)
J Hum Genet
, vol.52
, pp. 262-270
-
-
Bouchlaka, C.1
Maklout, C.2
Mahjoub, B.3
Ayadi, A.4
Sfar, M.T.5
Sioud, M.6
Gueddich, N.7
Belhadjali, Z.8
Rebai, A.9
Abdelhak, S.10
Dellagi, K.11
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