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Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|August 22, 2006
A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2Verena Matejas, Lihadh Al-Gazali, Iradj Amirlak, et al.
Neurogenetics|March 30, 2006
Identification of Alu elements mediating a partial PMP22 deletionVerena Matejas, Kathrin Huehne, Christian Thiel, et al.
Pediatric Nephrology (Berlin, Germany)|October 19, 2007
A milder variant of Pierson syndromeMikhail Kagan, Arthur H Cohen, Verena Matejas, et al.
American Journal of Medical Genetics. Part A|December 14, 2006
Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1Denise Pontes Cavalcanti, Verena Matejas, Daniela Luquetti, et al.
Pediatric Nephrology (Berlin, Germany)|January 10, 2012
Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFRAnja Lehnhardt, Albert Lama, Kerstin Amann, et al.
American Journal of Medical Genetics. Part A|January 30, 2007
Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndromeElke Wühl, Jillene Kogan, Aleksandra Zurowska, et al.
Pediatric Nephrology (Berlin, Germany)|February 19, 2008
Variable phenotype of Pierson syndromeHyun Jin Choi, Beom Hee Lee, Ju Hyung Kang, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 23, 2010
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)Dominik S Schoeb, Gil Chernin, Saskia F Heeringa, et al.
Pediatric Nephrology (Berlin, Germany)|July 3, 2008
Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndromeAndreas Dietrich, Verena Matejas, Martin Bitzan, et al.
Journal of Medical Genetics|June 26, 2007
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndromeMartin Zenker, Denise Horn, Dagmar Wieczorek, et al.
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