Rene F de Coo

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.

Authors:

Jan G M Huijmans Rachel Schot Johannis B C de Klerk Monique Williams René F M de Coo Marinus Duran Frans W Verheijen Marjon van Slegtenhorst Grazia M S Mancini

Am J Med Genet A 2017 Jun;173(6):1601-1606

Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.

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June 2017

International Paediatric Mitochondrial Disease Scale.

Authors:

Saskia Koene Jan C M Hendriks Ilse Dirks Lonneke de Boer Maaike C de Vries Mirian C H Janssen Izelle Smuts Cheuk-Wing Fung Virginia C N Wong I René F M de Coo Katharina Vill Claudia Stendel Thomas Klopstock Marni J Falk Elizabeth M McCormick Robert McFarland Imelda J M de Groot Jan A M Smeitink

J Inherit Metab Dis 2016 09 9;39(5):705-712. Epub 2016 Jun 9.

Radboudn Center for Mitochondrial Medicine at the Department of Paediatrics, Radboudumc, Geert Grooteplein 10. 6500 HB, PO BOX 9101, Nijmegen, The Netherlands.

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September 2016

CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.

Authors:

Grazia M S Mancini Rachel Schot Marie Claire Y de Wit René F de Coo Rianne Oostenbrink Karen Bindels-de Heus Lieke P V Berger Maarten H Lequin Femke A T de Vries Martina Wilke Marjon A van Slegtenhorst

Neurology 2016 Mar 3;86(9):877-8. Epub 2016 Feb 3.

From Erasmus University Medical Center (G.M.S.M., R.S., M.C.Y.d.W., R.F.d.C., R.O., K.B.-d.H., L.P.V.B., F.A.T.d.V., M.W., M.A.v.S.), Rotterdam; and Utrecht University Medical Center (M.H.L.), the Netherlands. L.P.V.B. is currently affiliated with the Department of Medical Genetics, University Medical Center Groningen, the Netherlands.

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March 2016

Non-random mtDNA segregation patterns indicate a metastable heteroplasmic segregation unit in m.3243A>G cybrid cells.

Authors:

Anton K Raap Roshan S Jahangir Tafrechi Frans M van de Rijke Angela Pyle Carolina Wählby Karoly Szuhai Raimond B G Ravelli René F M de Coo Harsha K Rajasimha Mats Nilsson Patrick F Chinnery David C Samuels George M C Janssen

PLoS One 2012 18;7(12):e52080. Epub 2012 Dec 18.

Department of Molecular Cell Biology, Leiden University Medical Centre, Leiden, The Netherlands.

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June 2013

Aortic distensibility alterations in adults with m.3243A>G MELAS gene mutation.

Authors:

Attila Nemes Marcel L Geleijnse Wim Sluiter Tom C G Vydt Osama I I Soliman Bas M van Dalen Wim B Vletter Folkert J ten Cate Hubert J M Smeets René F M de Coo

Swiss Med Wkly 2009 Feb;139(7-8):117-20

Department of Cardiology, Thorax Centre, Erasmus MC, Rotterdam, The Netherlands.

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February 2009

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.

Am J Hum Genet 2007 Aug 4;81(2):228-33. Epub 2007 Jun 4.

Mitochondrial Research Group, Department of Ophthalmology and Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

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August 2007

Cardiac involvement in adults with m.3243A>G MELAS gene mutation.

Authors:

Tom C G Vydt René F M de Coo Osama I I Soliman Folkert J Ten Cate Robert-Jan M van Geuns Wim B Vletter Kees Schoonderwoerd Bianca J C van den Bosch Hubert J M Smeets Marcel L Geleijnse

Am J Cardiol 2007 Jan 29;99(2):264-9. Epub 2006 Nov 29.

Department of Cardiology, Thoraxcenter, Erasmus MC, Rotterdam, The Netherlands.

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January 2007

Influence of mutation type on clinical expression of Leber hereditary optic neuropathy.

Authors:

Liesbeth Spruijt Dinanda N Kolbach Rene F de Coo Astrid S Plomp Noel J Bauer Hubertus J Smeets Christine E M de Die-Smulders

Am J Ophthalmol 2006 Apr;141(4):676-82

Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands.

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April 2006

Muscle weakness as presenting symptom of osteogenesis imperfecta.

Authors:

Annemieke M Boot Rene F M de Coo Gerard Pals Sabine M P F de Muinck Keizer-Schrama

Eur J Pediatr 2006 Jun 14;165(6):392-4. Epub 2006 Mar 14.

Division of Endocrinology, Erasmus MC-Sophia Children's Hospital, P.O. Box 2060, 3000 CB Rotterdam, The Netherlands.

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June 2006

Re: polymicrogyria versus pachygyria in 22q11 microdeletion.

Authors:

Marie Claire Y de Wit Maarten H Lequin René F M de Coo Grazia M S Mancini

Am J Med Genet A 2005 Aug;136A(4):419; author reply 420-1

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August 2005

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Authors:

Alice S Brooks Aida M Bertoli-Avella Grzegorz M Burzynski Guido J Breedveld Jan Osinga Ludolf G Boven Jane A Hurst Grazia M S Mancini Maarten H Lequin Rene F de Coo Ivana Matera Esther de Graaff Carel Meijers Patrick J Willems Dick Tibboel Ben A Oostra Robert M W Hofstra

Am J Hum Genet 2005 Jul 9;77(1):120-6. Epub 2005 May 9.

Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.

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July 2005

Regional absence of mitochondria causing energy depletion in the myocardium of muscle LIM protein knockout mice.

Authors:

Bianca J C van den Bosch Caroline M M van den Burg Kees Schoonderwoerd Patrick J Lindsey Hans R Scholte René F M de Coo Eva van Rooij Howard A Rockman Pieter A Doevendans Hubert J M Smeets

Cardiovasc Res 2005 Feb;65(2):411-8

Cardiovascular Research Institute Maastricht (CARIM), Department of Genetics and Cell Biology, Maastricht University, P.O. Box 616, 6200 MD Maastricht, The Netherlands.

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February 2005