Publications by authors named "Conny M A van Ravenswaaij-Arts"

66Publications

An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry.

Am J Med Genet A 2019 08 27;179(8):1459-1465. Epub 2019 May 27.

Department of Pediatrics, Maastricht University Medical Center, Maastricht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6771509PMC
August 2019

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Neurology 2019 01 12;92(2):e96-e107. Epub 2018 Dec 12.

From the Epilepsy Research Centre (D.R.M.V., B.J.S., R.B., M.F.B., S.F.B., M.S.H., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Departments of Genetics (D.R.M.V., C.M.A.v.R.-A.) and Neurology (D.R.M.V.), University Medical Center Groningen, University of Groningen, the Netherlands; Pediatric Neurology Unit and Laboratories (D.M., M.M.) and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy; Department of Pediatrics and Pediatric Epilepsy Centre (H.X., W.X.W., Y.J.), Peking University First Hospital, Beijing, China; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Population Health and Immunity Division (M.F.B.), Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; Department of Medical Biology (M.F.B.), University of Melbourne, Australia; Caulfield (D.W.), Melbourne, Australia; Department of Clinical Genetics (S.M.M.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Clinical Genetics (A.S.B., G.M.S.M., I.M.B.H.v.d.L.), Erasmus University Medical Centre, Rotterdam, the Netherlands; Department of Clinical Genetics (J.M.v.H.), VU University Medical Center, Amsterdam, the Netherlands; Tasmanian Health Service (T.L.W.), Women's and Children's Services, Launceston General Hospital, Tasmania, Australia; TY Nelson Department of Neurology and Neurosurgery (R.I.W.) and Institute of Neuroscience and Muscle Research (R.I.W.), Children's Hospital at Westmead, Sydney, Australia; Department of Neurosciences (S.M.), Lady Cilento Children's Hospital, Brisbane, Australia; Department of Anatomical Pathology (R.M.K.), Austin Hospital, Melbourne, Australia; IRCCS Stella Maris Foundation (F.S., R.G.), Pisa, Italy; Klinikum Oldenburg (G.C.K.), Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u. angeborene Stoffwechselerkrankungen, Oldenburg, Germany; Centre of Epilepsy (Y.J.), Beijing Institute for Brain Disorders, China; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia; and Florey Institute of Neurosciences and Mental Health (I.E.S.), Parkville, Australia.

View Article

Download full-text PDF

Source
http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000006729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340340PMC
January 2019

Copy number variation in a hospital-based cohort of children with epilepsy.

Epilepsia Open 2017 06 8;2(2):244-254. Epub 2017 May 8.

Department of Genetics University Medical Center Groningen University of Groningen Groningen the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/epi4.12057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5719854PMC
June 2017

Sema3a plays a role in the pathogenesis of CHARGE syndrome.

Hum Mol Genet 2018 04;27(8):1343-1352

Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddy045DOI Listing
April 2018

Guidelines in CHARGE syndrome and the missing link: Cranial imaging.

Am J Med Genet C Semin Med Genet 2017 12 23;175(4):450-464. Epub 2017 Nov 23.

University of Groningen, University Medical Center Groningen, Center of Expertise for CHARGE syndrome, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31593DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765497PMC
December 2017

Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity.

Int J Cardiol Heart Vasc 2016 Sep 25;12:21-25. Epub 2016 May 25.

Pediatric Cardiology, Dana-Dwek Children's Hospital, Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijcha.2016.05.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5454153PMC
September 2016

Support for the Diagnosis of CHARGE Syndrome.

JAMA Otolaryngol Head Neck Surg 2017 06;143(6):634-635

Departments of Pediatrics and Communicable Diseases and of Human Genetics, University of Michigan Medical School, Ann Arbor.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamaoto.2016.4762DOI Listing
June 2017

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Genome Biol 2016 11 29;17(1):243. Epub 2016 Nov 29.

Murdoch Childrens Research Institute, Melbourne, VIC, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13059-016-1105-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126855PMC
November 2016

Central Adrenal Insufficiency Is Not a Common Feature in CHARGE Syndrome: A Cross-Sectional Study in 2 Cohorts.

J Pediatr 2016 09 16;176:150-5. Epub 2016 Jun 16.

Department of Pediatrics, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2016.05.065DOI Listing
September 2016

Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children.

J Neurodev Disord 2016 26;8:16. Epub 2016 Apr 26.

University of Groningen, University Medical Center Groningen, Department of Genetics, Hanzeplein 1, 9713 GZ Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s11689-016-9150-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845478PMC
April 2016

Duplication 2p25 in a child with clinical features of CHARGE syndrome.

Am J Med Genet A 2016 May 6;170A(5):1148-54. Epub 2016 Feb 6.

Department of Human Genetics, The University of Michigan, Ann Arbor, Michigan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117441PMC
May 2016

Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy.

Eur J Paediatr Neurol 2016 May 8;20(3):489-92. Epub 2016 Jan 8.

University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2015.12.014DOI Listing
May 2016

A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).

Eur J Med Genet 2015 Dec 6;58(12):642-9. Epub 2015 Nov 6.

University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2015.11.001DOI Listing
December 2015

Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study.

PLoS One 2015 6;10(11):e0142350. Epub 2015 Nov 6.

University of Groningen, University Medical Centre Groningen, Beatrix Children's Hospital, Department of Paediatrics, Infectious Diseases and Immunology section, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0142350PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4636349PMC
June 2016

Clinical utility gene card for: CHARGE syndrome - update 2015.

Eur J Hum Genet 2015 Nov 18;23(11). Epub 2015 Feb 18.

Department of Medical Genetics, APHP-Robert DEBRE University Hospital, Paris, France.

View Article

Download full-text PDF

Source
http://www.nature.com/doifinder/10.1038/ejhg.2015.15
Publisher Site
http://dx.doi.org/10.1038/ejhg.2015.15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613487PMC
November 2015

CHARGE syndrome: a review of the immunological aspects.

Eur J Hum Genet 2015 Nov 18;23(11):1451-9. Epub 2015 Feb 18.

University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2015.7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613462PMC
November 2015

CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects.

Am J Med Genet A 2014 Dec 24;164A(12):3003-9. Epub 2014 Sep 24.

University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36747DOI Listing
December 2014

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.

Hum Genet 2014 Aug 13;133(8):997-1009. Epub 2014 Apr 13.

Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-014-1444-2DOI Listing
August 2014

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

Hum Mutat 2012 Aug 11;33(8):1251-60. Epub 2012 May 11.

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22106DOI Listing
August 2012

Mutation update on the CHD7 gene involved in CHARGE syndrome.

Hum Mutat 2012 Aug 16;33(8):1149-60. Epub 2012 Apr 16.

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22086DOI Listing
August 2012

The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome.

J Clin Endocrinol Metab 2012 May 7;97(5):E858-62. Epub 2012 Mar 7.

Department of Genetics, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2011-2652DOI Listing
May 2012

Clinical utility gene card for: CHARGE syndrome.

Eur J Hum Genet 2011 Sep 16;19(9). Epub 2011 Mar 16.

Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ejhg201145
Publisher Site
http://dx.doi.org/10.1038/ejhg.2011.45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3179356PMC
September 2011

Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.

J Pediatr 2011 Mar;158(3):474-9

Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2010.08.032DOI Listing
March 2011

Prevalence of genetic testing in CHARGE syndrome.

J Genet Couns 2011 Feb 28;20(1):49-57. Epub 2010 Sep 28.

Central Michigan University, Mount Pleasant, MI, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-010-9328-7DOI Listing
February 2011

Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion.

Eur J Med Genet 2010 Sep-Oct;53(5):344-6. Epub 2010 May 27.

Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212100004
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2010.05.003DOI Listing
January 2011

An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2.

Eur J Med Genet 2010 Jan-Feb;53(1):45-9. Epub 2009 Nov 23.

Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2009.11.003DOI Listing
April 2010

The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies.

Eur J Med Genet 2010 Jan-Feb;53(1):40-4. Epub 2009 Oct 28.

Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2009.10.005DOI Listing
April 2010

Study of smell and reproductive organs in a mouse model for CHARGE syndrome.

Eur J Hum Genet 2010 Feb 7;18(2):171-7. Epub 2009 Oct 7.

Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2009.158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987182PMC
February 2010

A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.

Eur J Med Genet 2009 Mar-Jun;52(2-3):116-9

Department of Genetics, CB50, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2009.01.005DOI Listing
September 2009

Emerging microdeletion and microduplication syndromes; the counseling paradigm.

Eur J Med Genet 2009 Mar-Jun;52(2-3):75-6. Epub 2009 Mar 24.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2009.03.007DOI Listing
September 2009

A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female.

Eur J Med Genet 2009 Mar-Jun;52(2-3):157-60. Epub 2009 Mar 6.

Department of Genetics, University Medical Centre Groningen, University of Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2009.02.009DOI Listing
September 2009

Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities.

Eur J Med Genet 2008 Nov-Dec;51(6):511-9. Epub 2008 Jul 19.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2008.07.002DOI Listing
March 2009

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.

Eur J Med Genet 2008 Sep-Oct;51(5):417-25. Epub 2008 Apr 4.

Department of Genetics, University Medical Center Groningen, P.O. Box 30.001, 9700 RB Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2008.03.003DOI Listing
November 2008

Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map.

Am J Med Genet A 2007 Aug;143A(16):1858-67

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31850DOI Listing
August 2007