Conny van Ravenswaaij-Arts

Conny van Ravenswaaij-Arts

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Conny van Ravenswaaij-Arts

Conny van Ravenswaaij-Arts

Publications by authors named "Conny van Ravenswaaij-Arts"

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

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

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

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

Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach.

J Multidiscip Healthc 2019 1;12:607-620. Epub 2019 Aug 1.

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

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http://dx.doi.org/10.2147/JMDH.S175713DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6682174PMC
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.

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

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Am J Hum Genet 2018 07 28;103(1):144-153. Epub 2018 Jun 28.

NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6037130PMC
July 2018

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.

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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.

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

New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.

Am J Med Genet C Semin Med Genet 2017 12 24;175(4):397-406. Epub 2017 Nov 24.

Departments of Human Genetics, The University of Michigan Medical School, Ann Arbor, Michigan.

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http://dx.doi.org/10.1002/ajmg.c.31592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591023PMC
December 2017

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.

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

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.

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

A stepped wedge design for testing an effect of intranasal insulin on cognitive development of children with Phelan-McDermid syndrome: A comparison of different designs.

Stat Methods Med Res 2017 04 19;26(2):766-775. Epub 2014 Nov 19.

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

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http://dx.doi.org/10.1177/0962280214558864DOI Listing
April 2017

Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe).

Am J Med Genet A 2017 Mar 4;173(3):684-691. Epub 2017 Feb 4.

Department of Pediatrics, IWK Health Center, Dalhousie University, Nova Scotia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38085DOI Listing
March 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 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.

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

Suggestions for a Guideline for Cochlear Implantation in CHARGE Syndrome.

Otol Neurotol 2016 10;37(9):1275-83

*Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen†Department of Otorhinolaryngology‡Department of Genetics, University Medical Center Groningen, University of Groningen, The Netherlands.

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http://dx.doi.org/10.1097/MAO.0000000000001177DOI Listing
October 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.

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

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.

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

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease.

Eur J Hum Genet 2016 08 27;24(8):1216-9. Epub 2016 Jan 27.

Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1038/ejhg.2015.276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970689PMC
August 2016

Influence of hearing loss and cognitive abilities on language development in CHARGE Syndrome.

Am J Med Genet A 2016 08 4;170(8):2022-30. Epub 2016 May 4.

Department of ENT, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37692DOI Listing
August 2016

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.

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

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

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

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

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

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

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.

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

Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome.

Trends Genet 2015 Oct 24;31(10):600-611. Epub 2015 Sep 24.

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

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https://linkinghub.elsevier.com/retrieve/pii/S01689525150010
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http://dx.doi.org/10.1016/j.tig.2015.05.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4604214PMC
October 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.

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

Central 22q11.2 deletions.

Am J Med Genet A 2014 Nov 14;164A(11):2707-23. Epub 2014 Aug 14.

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

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http://dx.doi.org/10.1002/ajmg.a.36711DOI Listing
November 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.

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

Can Characteristics of Reciprocal Translocations Predict the Chance of Transferable Embryos in PGD Cycles?

J Clin Med 2014 Apr 2;3(2):348-58. Epub 2014 Apr 2.

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

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http://www.mdpi.com/2077-0383/3/2/348
Publisher Site
http://dx.doi.org/10.3390/jcm3020348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449682PMC
April 2014

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

Eur J Hum Genet 2014 Feb 14;22(2):160-70. Epub 2013 Aug 14.

National Centre for Medical Genetics, School of Medicine & Medical Sciences, University College Dublin, Our Lady's Children's Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1038/ejhg.2013.125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895644PMC
February 2014

Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome.

Elife 2013 Dec 24;2:e01305. Epub 2013 Dec 24.

Department of Craniofacial Development and Stem Cell Biology, King's College London, London, United Kingdom.

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http://dx.doi.org/10.7554/eLife.01305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3870572PMC
December 2013

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.

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

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.

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http://dx.doi.org/10.1002/humu.22106DOI 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.

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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.

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http://www.nature.com/articles/ejhg201145
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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.

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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.

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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.

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

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.

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

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.

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http://dx.doi.org/10.1016/j.ejmg.2009.11.003DOI 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.

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

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.

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http://dx.doi.org/10.1016/j.ejmg.2009.02.009DOI 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.

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

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.

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http://dx.doi.org/10.1016/j.ejmg.2009.01.005DOI 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.

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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.

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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.

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

Congenital aural atresia in 18q deletion or de Grouchy syndrome.

Otol Neurotol 2003 Nov;24(6):900-6

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

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http://dx.doi.org/10.1097/00129492-200311000-00014DOI Listing
November 2003