-
1
-
-
4744349621
-
Une curieuse association malformative congenitale et familiale atteignant l'oeil et le rein
-
Pierson M, Cordier J, Hervoue F, Rauber G (1963) Une curieuse association malformative congenitale et familiale atteignant l'oeil et le rein. J Genet Hum 12:184-213
-
(1963)
J Genet Hum
, vol.12
, pp. 184-213
-
-
Pierson, M.1
Cordier, J.2
Hervoue, F.3
Rauber, G.4
-
2
-
-
33846837436
-
Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome
-
DOI 10.1002/ajmg.a.31564
-
Wuhl E, Kogan J, Zurowska A, Matejas V, Vandevoorde RG, Aigner T, Wendler O, Lesniewska I, Bouvier R, Reis A, Weis J, Cochat P, Zenker M (2007) Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome. Am J Med Genet A 143:311-319 (Pubitemid 46214191)
-
(2007)
American Journal of Medical Genetics, Part A
, vol.143
, Issue.4
, pp. 311-319
-
-
Wuhl, E.1
Kogan, J.2
Zurowska, A.3
Matejas, V.4
Vandevoorde, R.G.5
Aigner, T.6
Wendler, O.7
Lesniewska, I.8
Bouvier, R.9
Reis, A.10
Weis, J.11
Cochat, P.12
Zenker, M.13
-
3
-
-
8444221929
-
Human laminin β2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities
-
DOI 10.1093/hmg/ddh284
-
Zenker M, Aigner T, Wendler O, Tralau T, Muntefering H, Fenski R, Pitz S, Schumacher V, Royer-Pokora B, Wuhl E, Cochat P, Bouvier R, Kraus C, Mark K, Madlon H, Dotsch J, Rascher W, Maruniak-Chudek I, Lennert T, Neumann LM, Reis A (2004) Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet 13:2625-2632 (Pubitemid 39485411)
-
(2004)
Human Molecular Genetics
, vol.13
, Issue.21
, pp. 2625-2632
-
-
Zenker, M.1
Aigner, T.2
Wendler, O.3
Tralau, T.4
Muntefering, H.5
Fenski, R.6
Pitz, S.7
Schumacher, V.8
Royer-Pokora, B.9
Wuhl, E.10
Cochat, P.11
Bouvier, R.12
Kraus, C.13
Mark, K.14
Madlon, H.15
Dotsch, J.16
Rascher, W.17
Maruniak-Chudek, I.18
Lennert, T.19
Neumann, L.M.20
Reis, A.21
more..
-
4
-
-
0021918264
-
A simple estimate of glomerular filtration rate in adolescent boys
-
DOI 10.1016/S0022-3476(85)80697-1
-
Schwartz GJ, Gauthier B (1985) A simple estimate of glomerular filtration rate in adolescent boys. J Pediatr 106:522-526 (Pubitemid 15140671)
-
(1985)
Journal of Pediatrics
, vol.106
, Issue.3
, pp. 522-526
-
-
Schwartz, G.J.1
Gauthier, B.2
-
5
-
-
77956293608
-
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum
-
Matejas V, Hinkes B, Alkandari F, Al-Gazali L, Annexstad E, Aytac MB, Barrow M, Blahova K, Bockenhauer D, Cheong HI, Maruniak-Chudek I, Cochat P, Dotsch J, Gajjar P, Hennekam RC, Janssen F, Kagan M, Kariminejad A, Kemper MJ, Koenig J, Kogan J, Kroes HY, Kuwertz-Broking E, Lewanda AF, Medeira A, Muscheites J, Niaudet P, Pierson M, Saggar A, Seaver L, Suri M, Tsygin A, Wuhl E, Zurowska A, Uebe S, Hildebrandt F, Antignac C, Zenker M (2010) Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat 31:992-1002
-
(2010)
Hum Mutat
, vol.31
, pp. 992-1002
-
-
Matejas, V.1
Hinkes, B.2
Alkandari, F.3
Al-Gazali, L.4
Annexstad, E.5
Aytac, M.B.6
Barrow, M.7
Blahova, K.8
Bockenhauer, D.9
Cheong, H.I.10
Maruniak-Chudek, I.11
Cochat, P.12
Dotsch, J.13
Gajjar, P.14
Hennekam, R.C.15
Janssen, F.16
Kagan, M.17
Kariminejad, A.18
Kemper, M.J.19
Koenig, J.20
Kogan, J.21
Kroes, H.Y.22
Kuwertz-Broking, E.23
Lewanda, A.F.24
Medeira, A.25
Muscheites, J.26
Niaudet, P.27
Pierson, M.28
Saggar, A.29
Seaver, L.30
Suri, M.31
Tsygin, A.32
Wuhl, E.33
Zurowska, A.34
Uebe, S.35
Hildebrandt, F.36
Antignac, C.37
Zenker, M.38
more..
-
7
-
-
79955640326
-
A missense LAMB2 mutation causes congenital nephrotic syndrome by impairing laminin secretion
-
Chen YM, Kikkawa Y, Miner JH (2011) A Missense LAMB2 Mutation Causes Congenital Nephrotic Syndrome by Impairing Laminin Secretion. J Am Soc Nephrol 22:849-858
-
(2011)
J Am Soc Nephrol
, vol.22
, pp. 849-858
-
-
Chen, Y.M.1
Kikkawa, Y.2
Miner, J.H.3
-
8
-
-
38349059239
-
A milder variant of Pierson syndrome
-
Kagan M, Cohen AH, Matejas V, Vlangos C, Zenker M (2008) A milder variant of Pierson syndrome. Pediatr Nephrol 23:323-327
-
(2008)
Pediatr Nephrol
, vol.23
, pp. 323-327
-
-
Kagan, M.1
Cohen, A.H.2
Matejas, V.3
Vlangos, C.4
Zenker, M.5
-
9
-
-
42649132827
-
Variable phenotype of Pierson syndrome
-
Choi HJ, Lee BH, Kang JH, Jeong HJ, Moon KC, Ha IS, Yu YS, Matejas V, Zenker M, Choi Y, Cheong HI (2008) Variable phenotype of Pierson syndrome. Pediatr Nephrol 23:995-1000
-
(2008)
Pediatr Nephrol
, vol.23
, pp. 995-1000
-
-
Choi, H.J.1
Lee, B.H.2
Kang, J.H.3
Jeong, H.J.4
Moon, K.C.5
Ha, I.S.6
Yu, Y.S.7
Matejas, V.8
Zenker, M.9
Choi, Y.10
Cheong, H.I.11
-
10
-
-
33750006320
-
A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2
-
DOI 10.1093/ndt/gfl463
-
Matejas V, Al-Gazali L, Amirlak I, Zenker M (2006) A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2. Nephrol Dial Transplant 21:3283-3286 (Pubitemid 44567106)
-
(2006)
Nephrology Dialysis Transplantation
, vol.21
, Issue.11
, pp. 3283-3286
-
-
Matejas, V.1
Al-Gazali, L.2
Amirlak, I.3
Zenker, M.4
-
11
-
-
51849138913
-
Ophthalmological aspects of Pierson syndrome
-
Bredrup C, Matejas V, Barrow M, Blahova K, Bockenhauer D, Fowler DJ, Gregson RM, Maruniak-Chudek I, Medeira A, Mendonca EL, Kagan M, Koenig J, Krastel H, Kroes HY, Saggar A, Sawyer T, Schittkowski M, Swietlinski J, Thompson D, VanDeVoorde RG, Wittebol-Post D, Woodruff G, Zurowska A, Hennekam RC, ZenkerM, Russell-Eggitt I (2008) Ophthalmological aspects of Pierson syndrome. Am J Ophthalmol 146:602-611
-
(2008)
Am J Ophthalmol
, vol.146
, pp. 602-611
-
-
Bredrup, C.1
Matejas, V.2
Barrow, M.3
Blahova, K.4
Bockenhauer, D.5
Fowler, D.J.6
Gregson, R.M.7
Maruniak-Chudek, I.8
Medeira, A.9
Mendonca, E.L.10
Kagan, M.11
Koenig, J.12
Krastel, H.13
Kroes, H.Y.14
Saggar, A.15
Sawyer, T.16
Schittkowski, M.17
Swietlinski, J.18
Thompson, D.19
VanDeVoorde, R.G.20
Wittebol-Post, D.21
Woodruff, G.22
Zurowska, A.23
Hennekam, R.C.24
Zenker, M.25
Russell-Eggitt, I.26
more..
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