Publications by authors named "Tuula Rinne"

33Publications

Oculoectodermal Syndrome - Encephalocraniocutaneous Lipomatosis Associated with NRAS Mutation.

Acta Derm Venereol 2020 Apr 6;100(8):adv00103. Epub 2020 Apr 6.

Department of dermatology, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.2340/00015555-3358DOI Listing
April 2020

Functional characterisation of a novel class of in-frame insertion variants of KRAS and HRAS.

Sci Rep 2019 06 3;9(1):8239. Epub 2019 Jun 3.

Department of Molecular Cancer Research, Center for Molecular Medicine, Oncode Institute, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.

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http://dx.doi.org/10.1038/s41598-019-44584-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6547725PMC
June 2019

Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era.

J Med Genet 2019 10 30;56(10):654-661. Epub 2019 Apr 30.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands

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http://dx.doi.org/10.1136/jmedgenet-2018-105746DOI Listing
October 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 03 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.

Am J Med Genet A 2017 Nov 8;173(11):2968-2972. Epub 2017 Sep 8.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.38466DOI Listing
November 2017

Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.

Am J Med Genet A 2016 07 25;170(7):1874-80. Epub 2016 Apr 25.

Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37657DOI Listing
July 2016

The Immune Phenotype of Patients with CHARGE Syndrome.

J Allergy Clin Immunol Pract 2016 Jan-Feb;4(1):96-103.e2. Epub 2015 Nov 7.

Department of Allergy and Immunology, The Children's Hospital at Westmead, Sydney, Australia.

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http://dx.doi.org/10.1016/j.jaip.2015.09.004DOI Listing
October 2016

Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC).

Am J Med Genet A 2009 Sep;149A(9):1948-51

Department of Human Genetics, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands.

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http://doi.wiley.com/10.1002/ajmg.a.32793
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.32793DOI Listing
September 2009

Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association).

Wien Klin Wochenschr 2008 ;120(13-14):435-9

Department of Gynecology and Obstetrics, Innsbruck Medical University, Innsbruck, Austria.

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http://link.springer.com/content/pdf/10.1007%2Fs00508-008-09
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http://link.springer.com/10.1007/s00508-008-0995-4
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http://dx.doi.org/10.1007/s00508-008-0995-4DOI Listing
December 2008

p63-associated disorders.

Cell Cycle 2007 Feb 3;6(3):262-8. Epub 2007 Feb 3.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.4161/cc.6.3.3796DOI Listing
February 2007

Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.

Eur J Hum Genet 2006 Aug 17;14(8):904-10. Epub 2006 May 17.

1Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201640DOI Listing
August 2006

Pattern of p63 mutations and their phenotypes--update.

Am J Med Genet A 2006 Jul;140(13):1396-406

Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.

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http://doi.wiley.com/10.1002/ajmg.a.31271
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http://dx.doi.org/10.1002/ajmg.a.31271DOI Listing
July 2006

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

Nat Genet 2005 May 10;37(5):465-7. Epub 2005 Apr 10.

Department of Human Genetics, Radboud University Nijmegen Medical Center, Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ng1546DOI Listing
May 2005