Servi J C Stevens

Servi J C Stevens

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Servi J C Stevens

Servi J C Stevens

Publications by authors named "Servi J C Stevens"

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Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature.

Hum Mutat 2019 Sep 9. Epub 2019 Sep 9.

Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.

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http://dx.doi.org/10.1002/humu.23909DOI Listing
September 2019

Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.

Mol Genet Genomic Med 2018 05 24;6(3):393-400. Epub 2018 Mar 24.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.

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http://doi.wiley.com/10.1002/mgg3.387
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http://dx.doi.org/10.1002/mgg3.387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014478PMC
May 2018

Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndrome.

Am J Med Genet A 2017 12 19;173(12):3238-3240. Epub 2017 Oct 19.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://doi.wiley.com/10.1002/ajmg.a.38396
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http://dx.doi.org/10.1002/ajmg.a.38396DOI Listing
December 2017

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Am J Hum Genet 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
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http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1.

Eur J Hum Genet 2015 Apr 2;23(4):543-6. Epub 2014 Jul 2.

Department Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2014.124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666567PMC
April 2015

A case of Filippi syndrome with atypical limb defects in a 3-year-old boy and a review of the literature.

Clin Dysmorphol 2013 Oct;22(4):146-8

aDepartment of Genetics, Wroclaw Medical University, Wroclaw, Poland bDepartment of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.

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http://dx.doi.org/10.1097/MCD.0b013e3283645a30DOI Listing
October 2013

A new syndrome of microtia with unilateral renal agenesis and short stature.

Am J Med Genet A 2012 Aug 18;158A(8):1837-40. Epub 2012 Jun 18.

Department of Medical Genetics, Kayseri Education and Research Hospital, Kayseri, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.33653DOI Listing
August 2012

Combination of Epstein-Barr virus scaffold (BdRF1/VCA-p40) and small capsid protein (BFRF3/VCA-p18) into a single molecule for improved serodiagnosis of acute and malignant EBV-driven disease.

J Virol Methods 2010 Oct 16;169(1):79-86. Epub 2010 Jul 16.

Molecular Biology Laboratory, Faculty of Medicine, Gadjah Mada University, Sekip, Yogyakarta, Indonesia.

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http://dx.doi.org/10.1016/j.jviromet.2010.07.001DOI Listing
October 2010

A translocation in acute lymphoblastic leukemia that cytogenetically mimics the recurrent MLL-AFF1 translocation and fuses SEPT11 to MLL.

Cancer Genet Cytogenet 2010 Aug;201(1):48-51

Department of Clinical Genetics, Unit of Cytogenetics, Maastricht University Medical Center, Maastricht, the Netherlands.

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http://dx.doi.org/10.1016/j.cancergencyto.2010.05.002DOI Listing
August 2010

Epstein-Barr virus (EBV) serology for predicting distant metastases in a white juvenile patient with nasopharyngeal carcinoma and no clinical response to EBV lytic induction therapy.

Head Neck 2006 Nov;28(11):1040-5

Department of Pathology, Vrije Universiteit Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/hed.20466DOI Listing
November 2006

Noninvasive diagnosis of nasopharyngeal carcinoma: nasopharyngeal brushings reveal high Epstein-Barr virus DNA load and carcinoma-specific viral BARF1 mRNA.

Int J Cancer 2006 Aug;119(3):608-14

Department of Pathology, Vrije Universiteit Medical Center, Amsterdam, The Netherlands, and Dr. Cipto Mangunkusumo Hospital, Jakarta, Indonesia.

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http://dx.doi.org/10.1002/ijc.21914DOI Listing
August 2006

Quantitative detection of Epstein-Barr virus DNA in clinical specimens by rapid real-time PCR targeting a highly conserved region of EBNA-1.

Methods Mol Biol 2005 ;292:15-26

Department of Pathology, VU Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1385/1-59259-848-x:015DOI Listing
March 2005

Profiling of Epstein-Barr virus latent RNA expression in clinical specimens by gene-specific multiprimed cDNA synthesis and PCR.

Methods Mol Biol 2005 ;292:27-38

Department of Pathology, VU Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1385/1-59259-848-x:027DOI Listing
March 2005

High Epstein-Barr virus (EBV) DNA loads in HIV-infected patients: correlation with antiretroviral therapy and quantitative EBV serology.

AIDS 2002 May;16(7):993-1001

Department of Pathology, University Hospital Vrije Universiteit, De Boelelaan 1117, 1081 HV Amsterdam, the Netherlands.

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http://dx.doi.org/10.1097/00002030-200205030-00005DOI Listing
May 2002

Treatment of posttransplant lymphoproliferative disease with rituximab: the remission, the relapse, and the complication.

Transplantation 2002 Jan;73(1):100-4

Dept. of Internal Medicine, University Hospital Groningen, P.O. Box 30.001, 9700 RB Groningen, The Netherlands.

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http://dx.doi.org/10.1097/00007890-200201150-00019DOI Listing
January 2002