| 1 | LAMB2, MCCNS
|
| 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, Bláhová K, Bockenhauer D, Cheong HI, Maruniak-Chudek I, Cochat P, Dötsch J, Gajjar P, Hennekam RC, Janssen F, Kagan M, Kariminejad A, Kemper MJ, Koenig J, Kogan J, Kroes HY, Kuwertz-Bröking E, Lewanda AF, Medeira A, Muscheites J, Niaudet P, Pierson M, Saggar A, Seaver L, Suri M, Tsygin A, Wühl E, Zurowska A, Uebe S, Hildebrandt F, Antignac C, Zenker M.
|
| Hum Mutat 31(9):992-1002. Review.
2010
|
| 2 | LAMB2, MCCNS
|
| Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome.
|
| Maselli RA, Ng JJ, Anderson JA, Cagney O, Arredondo J, Williams C, Wessel HB, Abdel-Hamid H, Wollmann RL.
|
| J Med Genet 46(3):203-8.
2009
|
| 3 | LAMB2, MCCNS
|
| Ophthalmological aspects of Pierson syndrome.
|
| Bredrup C, Matejas V, Barrow M, Bláhová K, Bockenhauer D, Fowler DJ, Gregson RM, Maruniak-Chudek I, Medeira A, Mendonça EL, Kagan M, Koenig J, Krastel H, Kroes HY, Saggar A, Sawyer T, Schittkowski M, Swietliński J, Thompson D, VanDeVoorde RG, Wittebol-Post D, Woodruff G, Zurowska A, Hennekam RC, Zenker M, Russell-Eggitt I.
|
| Am J Ophthalmol 146(4):602-611. Epub 2008 Jul 31.
2008
|
| 4 | LAMB2, MCCNS
|
| Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.
|
| Hasselbacher K, Wiggins RC, Matejas V, Hinkes BG, Mucha B, Hoskins BE, Ozaltin F, Nrnberg G, Becker C, Hangan D, Pohl M, Kuwertz-Brking E, Griebel M, Schumacher V, Royer-Pokora B, Bakkaloglu A, Nrnberg P, Zenker M, Hildebrandt F.
|
| Kidney Int 70(6):1008-12. Epub 2006 Aug 16. 2006
|
| 5 | MCCNS, LAMB2
|
| Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago.
|
| Zenker M, Pierson M, Jonveaux P, Reis A.
|
| Am J Med Genet A 138(1):73-4. No abstract available. 2005
|
| 6 | MCCNS, LAMB2
|
| Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.
|
| 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.
|
| Hum Mol Genet 13(21):2625-32. Epub 2004 Sep 14. 2004
|
| 7 | MCCNS
|
| Familial infantile nephrotic syndrome with ocular abnormalities.
|
| Glastre C, Cochat P, Bouvier R, Colon S, Cottin X, Giffon D, Wright C, Dijoud F, David L.
|
| Pediatr Nephrol 4(4):340-2. 1990
|