Publications by authors named "Martijn Breuning"

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Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature.
Marieke Peetsold, Susan Goorden, Martijn Breuning, Monique Williams, Jaap Bakker

J Child Neurol· March 2021

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Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.
Marian A J Weterman, Molly Kuo, Susan B Kenter, Sara Gordillo, Dyah W Karjosukarso, Martijn Breuning

Hum Mol Genet· December 2018

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Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
Laurence H M Pierrache, Adva Kimchi, Rinki Ratnapriya, Lisa Roberts, Galuh D N Astuti, Martijn H Breuning

Ophthalmology· July 2017

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Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Lonneke Haer-Wigman, Wendy Ag van Zelst-Stams, Rolph Pfundt, L Ingeborgh van den Born, Caroline Cw Klaver, Martijn H Breuning

Eur J Hum Genet· May 2017

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Inhibition of Activin Signaling Slows Progression of Polycystic Kidney Disease.
Wouter N Leonhard, Steven J Kunnen, Anna J Plugge, Arja Pasternack, Sebastian B T Jianu, Martijn H Breuning

J Am Soc Nephrol· December 2016

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Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.
Johannes G Dauwerse, Martine van Belzen, Arie van Haeringen, Gijs van Santen, Christian van de Lans, Martijn Breuning

Eur J Hum Genet· November 2016

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[Maturity-onset diabetes of the young].
Karin van der Tuin, Sabine E Hannema, E C A M Mieke Houdijk, Monique Losekoot, Eelco J P de Koning, Martijn H Breuning

Ned Tijdschr Geneeskd· August 2016

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Hereditary cancer registries improve the care of patients with a genetic predisposition to cancer: contributions from the Dutch Lynch syndrome registry.
Hans F A Vasen, Mary E Velthuizen, Jan H Kleibeuker, Fred H Menko, Fokke M Nagengast, Martijn H Breuning

Fam Cancer· July 2016

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Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients.
Inge C de Vor, Pomme M van der Meulen, Vincent Bekker, Els M Verhard, Martijn H Breuning

J Clin Immunol· April 2016

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LRP5 variants may contribute to ADPKD.
Wybrich R Cnossen, René H M te Morsche, Alexander Hoischen, Christian Gilissen, Hanka Venselaar, Martijn H Breuning

Eur J Hum Genet· February 2016

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Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors.
Attje S Hoekstra, Marieke A de Graaff, Inge H Briaire-de Bruijn, Cor Ras, Reza Maleki Seifar, Martijn H Breuning

Oncotarget· November 2015

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Copy number variants in short children born small for gestational age.
Jan M Wit, Hermine A van Duyvenvoorde, Jan B van Klinken, Janina Caliebe, Cathy A J Bosch, Martijn H Breuning

Horm Res Paediatr· July 2015

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Scattered Deletion of PKD1 in Kidneys Causes a Cystic Snowball Effect and Recapitulates Polycystic Kidney Disease.
Wouter N Leonhard, Malu Zandbergen, Kimberley Veraar, Susan van den Berg, Louise van der Weerd, Martijn Breuning

J Am Soc Nephrol· June 2015

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A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands.
Stephanie S Weinreich, Astrid Bosma, Lidewij Henneman, Tessel Rigter, Carla M J Spruijt, Martijn H Breuning

Eur J Hum Genet· January 2015

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Response to Dalal et al.
Kamlesh Madan, Martijn H Breuning

Genet Med· January 2015

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Impact of prenatal technologies on the sex ratio in India: an overview.
Kamlesh Madan, Martijn H Breuning

Genet Med· June 2014

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Copy number variants in patients with short stature.
Hermine A van Duyvenvoorde, Julian C Lui, Sarina G Kant, Wilma Oostdijk, Antoinet C J Gijsbers, Martijn H Breuning

Eur J Hum Genet· May 2014

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Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA.
Toshiyuki Yamamoto, Maria Antonietta Mencarelli, Chiara Di Marco, Mafalda Mucciolo, Marina Vascotto, Martijn Breuning

Eur J Med Genet· March 2014

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Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
Gijs W E Santen, Emmelien Aten, Anneke T Vulto-van Silfhout, Caroline Pottinger, Bregje W M van Bon, Martijn H Breuning

Hum Mutat· November 2013

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[Rare syndromes are not hard to recognize].
Martijn Breuning

Ned Tijdschr Geneeskd· July 2013

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Cyst expansion and regression in a mouse model of polycystic kidney disease.
Hester Happé, Annemieke M van der Wal, Daniela C F Salvatori, Wouter N Leonhard, Martijn H Breuning

Kidney Int· June 2013

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Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
Yu Sun, Rowida Almomani, Guido J Breedveld, Gijs W E Santen, Emmelien Aten, Martijn H Breuning

Hum Mutat· May 2013

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GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America.
Rowida Almomani, Yu Sun, Emmelien Aten, Yvonne Hilhorst-Hofstee, Cacha M P C D Peeters-Scholte, Martijn H Breuning

Am J Med Genet A· May 2013

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Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome.
Emmelien Aten, Yu Sun, Rowida Almomani, Gijs W E Santen, Tobias Messemaker, Martijn H Breuning

Hum Mutat· March 2013

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Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.
Yu Sun, Beata Bak, Nadia Schoenmakers, A S Paul van Trotsenburg, Wilma Oostdijk, Martijn H Breuning

Nat Genet· December 2012

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