Verena Matejas

Verena Matejas

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Verena Matejas

Verena Matejas

Publications by authors named "Verena Matejas"

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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/doifinder/10.1038/ng.3933
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http://dx.doi.org/10.1038/ng.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819591PMC
October 2017

Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR.

Pediatr Nephrol 2012 May 8;27(5):865-8. Epub 2012 Jan 8.

Department of Pediatric Nephrology, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany.

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http://dx.doi.org/10.1007/s00467-011-2088-2DOI Listing
May 2012

Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities.

Am J Med Genet A 2011 Oct 9;155A(10):2601-4. Epub 2011 Sep 9.

Institute of Human Genetics, University Hospital Erlangen, University of Erlangen-Nuremberg, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.34214
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.34214DOI Listing
October 2011

Variable phenotype of Pierson syndrome.

Pediatr Nephrol 2008 Jun;23(6):995-1000

Department of Pediatrics, Seoul National University Children's Hospital, 28 Yongon-Dong, Chongro-Gu, Seoul 110-744, South Korea.

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http://dx.doi.org/10.1007/s00467-008-0748-7DOI Listing
June 2008

A milder variant of Pierson syndrome.

Pediatr Nephrol 2008 Feb 18;23(2):323-7. Epub 2007 Oct 18.

Department of Gastroenterology and Nephrology, Orenburg Regional Children's Hospital, Ribakovskaya street 3, 460000, Orenburg, Russia.

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http://dx.doi.org/10.1007/s00467-007-0624-xDOI Listing
February 2008

Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1.

Am J Med Genet A 2007 Feb;143A(3):241-7

Perinatal Genetic Program, Department of Medical Genetics, FCM, UNICAMP, Campinas, SP, Brazil.

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http://doi.wiley.com/10.1002/ajmg.a.31426
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http://dx.doi.org/10.1002/ajmg.a.31426DOI Listing
February 2007

A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2.

Nephrol Dial Transplant 2006 Nov 18;21(11):3283-6. Epub 2006 Aug 18.

Institute of Human Genetics, University of Erlangen-Nuremberg, Germany.

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https://academic.oup.com/ndt/article-lookup/doi/10.1093/ndt/
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http://dx.doi.org/10.1093/ndt/gfl463DOI Listing
November 2006

Identification of Alu elements mediating a partial PMP22 deletion.

Neurogenetics 2006 May 29;7(2):119-26. Epub 2006 Mar 29.

Institute of Human Genetics, Friedrich Alexander University, Erlangen, Germany.

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http://link.springer.com/10.1007/s10048-006-0030-8
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http://dx.doi.org/10.1007/s10048-006-0030-8DOI Listing
May 2006