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Arie van Haeringen

Research Profile

Disorders

Geographic Areas

Netherlands

Concepts & Ideas

Procedures

Anatomy

Chromosomes, Human, Pair 4

Occupations

Genetic Counseling

Physiology

Devices

Oligonucleotide Array Sequence Analysis

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Publications

TOP 3
Rowida Almomani; Emmelien Aten; Martijn H Breuning; Johan T den Dunnen; Yvonne M C Hendriks; Y Hilhorst-Hofstee; Marjolein Kriek; Cacha M P C D Peeters-Scholte; Yu Sun; Arie van Haeringen; Gijs W E Santen
GPSM2 and Chudley-McCullough Syndrome: A Dutch Founder Variant Brought to North America.
Y Hilhorst-Hofstee; L J Kroft; Gerard Pals; Monique Reijnierse; Arie van Haeringen; M E B Rijlaarsdam; Claudia Ruivenkamp; Arthur J H A Scholte; Michel I M Versteegh; M H Breuning
An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection.
Wigard P Kloosterman; Lidia Larizza; Björn Menten; Eberhard Passarge; Martin Poot; Ivo Renkens; Claudia Ruivenkamp; Masoumeh Tavakoli-Yaraki; Ellen van Binsbergen; Arie van Haeringen; Markus J van Roosmalen; Sarah Vergult; Karen J Duran; Daniela Giardino; Victor Guryev; Thomas Haaf; Kerstin Hansson; Ron Hochstenbach; Elly F Ippel; Myrthe Jager; Lucia Ballarati; Edwin Cuppen
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.

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All Publications

2013: Rowida Almomani; Emmelien Aten; Martijn H Breuning; Johan T den Dunnen; Yvonne M C Hendriks; Y Hilhorst-Hofstee; Marjolein Kriek; Cacha M P C D Peeters-Scholte; Yu Sun; Arie van Haeringen; Gijs W E Santen
GPSM2 and Chudley-McCullough Syndrome: A Dutch Founder Variant Brought to North America.
American journal of medical genetics. Part A 2013;161(5):973-6.
2013: Y Hilhorst-Hofstee; L J Kroft; Gerard Pals; Monique Reijnierse; Arie van Haeringen; M E B Rijlaarsdam; Claudia Ruivenkamp; Arthur J H A Scholte; Michel I M Versteegh; M H Breuning
An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection.
Clinical genetics 2013;83(4):337-44.
2012: Wigard P Kloosterman; Lidia Larizza; Björn Menten; Eberhard Passarge; Martin Poot; Ivo Renkens; Claudia Ruivenkamp; Masoumeh Tavakoli-Yaraki; Ellen van Binsbergen; Arie van Haeringen; Markus J van Roosmalen; Sarah Vergult; Karen J Duran; Daniela Giardino; Victor Guryev; Thomas Haaf; Kerstin Hansson; Ron Hochstenbach; Elly F Ippel; Myrthe Jager; Lucia Ballarati; Edwin Cuppen
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.
Cell reports 2012;1(6):648-55.
2012: Gijs W E Santen; Irina N Snoeck; Yu Sun; Arie van Haeringen; Gert-Jan B van Ommen; Marja W Wessels; Maartje Nielsen; Els A J Peeters; Claudia Ruivenkamp; Rowida Almomani; Emmelien Aten; Martijn H Breuning; Johan T den Dunnen; Nicolette S den Hollander; Christian Gilissen; Y Hilhorst-Hofstee; Sarina G Kant; Marjolein Kriek
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
Nature genetics 2012;44(4):379-80.
2011: Érika L Freitas; Marly A S Balarin; Nigel P Carter; Susan M Gribble; Ana Cristina Krepischi-Santos; Elena Prigmore; Carla Rosenberg; Roseane L Silva-Grecco; Milena Simioni; Karoly Szuhai; Arie van Haeringen; Társis P Vieira; Vera Lúcia Gil da Silva Lopes
Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.
American journal of medical genetics. Part A 2011;155A(11):2754-61.
2011: Johannes G Dauwerse; Jill Dixon; Saskia Seland; Claudia Ruivenkamp; Arie van Haeringen; Lies Hoefsloot; Dorien J M Peters; Agnes Clement-de Boers; Cornelia Daumer-Haas; Robert Maiwald; Christiane Zweier; Bronwyn Kerr; Ana M Cobo; Joaquín F Toral; A Jeannette M Hoogeboom; Dietmar R Lohmann; Ute Hehr; Michael J Dixon; Martijn H Breuning; Dagmar Wieczorek
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
Nature genetics 2011;43(1):20-2.
2010: Antoinet C J Gijsbers; Cathy A J Bosch; Johannes G Dauwerse; Osdilly Giromus; K B M Hansson; Y Hilhorst-Hofstee; Marjolein Kriek; Arie van Haeringen; Emilia K Bijlsma; Egbert Bakker; Martijn H Breuning; Claudia Ruivenkamp
Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.
European journal of medical genetics 2010;53(5):227-33.
2010: A C J Gijsbers; Arie van Haeringen; C A J Bosch; K B M Hansson; M Verschuren; Egbert Bakker; Martijn H Breuning; Claudia Ruivenkamp
A subtle familial translocation t(3;21)(p26.3;q22.3): an apparently healthy boy with a 3p deletion and 21q duplication.
Cytogenetic and genome research 2010;128(4):245-9.
2009: Antoinet C J Gijsbers; Janet Y K Lew; Cathy A J Bosch; Janneke H M Schuurs-Hoeijmakers; Arie van Haeringen; NS den Hollander; Sarina G Kant; Emilia K Bijlsma; Martijn H Breuning; Egbert Bakker; Claudia Ruivenkamp
A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.
European journal of human genetics : EJHG 2009;17(11):1394-402.
2009: Emilia K Bijlsma; A C J Gijsbers; J H M Schuurs-Hoeijmakers; Arie van Haeringen; D E Fransen van de Putte; B-M Anderlid; J Lundin; P Lapunzina; L A Pérez Jurado; B Delle Chiaie; Bart Loeys; B Menten; A Oostra; H Verhelst; D J Amor; D L Bruno; A J van Essen; R Hordijk; Birgit Sikkema-Raddatz; Krijn T Verbruggen; M C J Jongmans; R Pfundt; H M Reeser; Martijn H Breuning; Claudia Ruivenkamp
Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.
European journal of medical genetics 2009;52(2-3):77-87.
2008: Femke A De Snoo; Samantha R Riedijk; Anneke M van Mil; Wilma Bergman; Jeanet A C ter Huurne; Reinier Timman; Wieke Bertina; Nelleke A Gruis; H F A Vasen; Arie van Haeringen; Martijn H Breuning; Aad Tibben
Genetic testing in familial melanoma: uptake and implications.
Psycho-oncology 2008;17(8):790-6.
2008: Karin M van der Pal-de Bruin; Saskia Le Cessie; Joyce Dijs-Elsinga; Lc de Jong-Potjer; Arie van Haeringen; Arie Knuistingh Neven; S Pauline Verloove-Vanhorick; Pim Assendelft
Pre-conception counselling in primary care: prevalence of risk factors among couples contemplating pregnancy.
Paediatric and perinatal epidemiology 2008;22(3):280-7.
2007: K B M Hansson; Karoly Szuhai; Jeroen Knijnenburg; Arie van Haeringen; Joke de Pater
Interstitial deletion of 6q without phenotypic effect.
American journal of medical genetics. Part A 2007;143A(12):1354-7.
2007: Jeroen Knijnenburg; Arie van Haeringen; K B M Hansson; Arjan C Lankester; Margot J M Smit; René D M Belfroid; Egbert Bakker; Carla Rosenberg; Hans J Tanke; Karoly Szuhai
Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.
European journal of human genetics : EJHG 2007;15(5):548-55.
2006: Carla Rosenberg; Jeroen Knijnenburg; Egbert Bakker; Angela M Vianna-Morgante; Willem C R Sloos; P A Otto; Marjolein Kriek; K B M Hansson; Ana Cristina Krepischi-Santos; Heike Fiegler; Nigel P Carter; Emilia K Bijlsma; Arie van Haeringen; Karoly Szuhai; Hans J Tanke
Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents.
Journal of medical genetics 2006;43(2):180-6.
2005: J M van de Kamp; Jasper van der Smagt; C F A Bos; Arie van Haeringen; Pancras Hogendoorn; Martijn H Breuning
Bifurcation of the femur with tibial agenesis and additional anomalies.
American journal of medical genetics. Part A 2005;138(1):45-50.
2005: Samantha R Riedijk; Femke A De Snoo; Sandra van Dijk; Wilma Bergman; Arie van Haeringen; S Silberg; Thérèse van Elderen; Aad Tibben
Hereditary melanoma and predictive genetic testing: why not?
Psycho-oncology 2005;14(9):738-45.
2000: anneke maat-kievit; Maria Vegter-van der Vlis; Moniek W Zoeteweij; Monique Losekoot; Arie van Haeringen; Raymund A C Roos
Paradox of a better test for Huntington's disease.
Journal of neurology, neurosurgery, and psychiatry 2000;69(5):579-83.
2000: Fred Petrij; Hans Dauwerse; RI Blough; Rachel H Giles; Jasper van der Smagt; R Wallerstein; PD Maaswinkel-Mooy; C D van Karnebeek; Gert-Jan B van Ommen; Arie van Haeringen; J H Rubinstein; Howard M Saal; Raoul Hennekam; Dorien J M Peters; Martijn H Breuning
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.
Journal of medical genetics 2000;37(3):168-76.
1999: anneke maat-kievit; Maria Vegter-van der Vlis; Moniek W Zoeteweij; Monique Losekoot; Arie van Haeringen; Raymund A C Roos
Predictive testing of 25 percent at-risk individuals for Huntington disease (1987-1997).
American journal of medical genetics 1999;88(6):662-8.
1999: Yvonne M C Hendriks; L A E M Laan; GJ Vielvoye; Arie van Haeringen
Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters.
American journal of medical genetics 1999;86(2):183-6.
1999: anneke maat-kievit; Maria Vegter-van der Vlis; Moniek W Zoeteweij; Monique Losekoot; Arie van Haeringen; Humphrey H H Kanhai; Raymund A C Roos
Experience in prenatal testing for Huntington's disease in The Netherlands: procedures, results and guidelines (1987-1997).
Prenatal diagnosis 1999;19(5):450-7.
1998: Sarina G Kant; A Polinkovsky; Stefan Mundlos; B Zabel; Ralph T W M Thomeer; Harmine M Zonderland; L Shih; Arie van Haeringen; Matthew L Warman
Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.
American journal of human genetics 1998;63(1):155-62.
1998: I Stec; TJ Wright; Gert-Jan B van Ommen; P A de Boer; Arie van Haeringen; A F Moorman; Michael R Altherr; Johan T den Dunnen
WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma.
Human molecular genetics 1998;7(7):1071-82.
1998: MM Hulshof; Arie van Haeringen; Nelleke A Gruis; D C Snels; Wilma Bergman
Multiple agminate Spitz naevi.
Melanoma research 1998;8(2):156-60.
1998: Sarina G Kant; A Oudshoorn; C V Gi; Harmine M Zonderland; Arie van Haeringen
The Catel-Manzke syndrome in a female infant.
Genetic counseling (Geneva, Switzerland) 1998;9(3):187-90.
1997: Sarina G Kant; Margot M Bartelings; R E Kibbelaar; Arie van Haeringen
Severe cardiac defect in a patient with the OEIS complex.
Clinical dysmorphology 1997;6(4):371-4.
1997: Sarina G Kant; Arie van Haeringen; Egbert Bakker; I Stec; D Donnai; Paul Mollevanger; Geoffrey C Beverstock; M C Lindeman-Kusse; Gert-Jan B van Ommen
Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.
Journal of medical genetics 1997;34(7):569-72.
1997: AC DudokdeWit; Aad Tibben; Hugo J Duivenvoorden; Petra G Frets; Moniek W Zoeteweij; Monique Losekoot; Arie van Haeringen; Martinus F Niermeijer; Jan Passchier
Psychological distress in applicants for predictive DNA testing for autosomal dominant, heritable, late onset disorders. The Rotterdam/Leiden Genetics Workgroup.
Journal of medical genetics 1997;34(5):382-90.
1997: A J M Luijsterburg; David C van der Zee; J L Gaillard; Frans J Los; Helen Brandenburg; Arie van Haeringen; Christl Vermeij-Keers
Chorionic villus sampling and end-artery disruption of the fetus.
Prenatal diagnosis 1997;17(1):71-6.
1996: M C Lindeman-Kusse; Arie van Haeringen; J J Hoorweg-Nijman; H G Brunner
Cytogenetic abnormalities in two new patients with Pitt-Rogers-Danks phenotype.
American journal of medical genetics 1996;66(1):104-12.
1993: H F A Vasen; Gerrit Griffioen; Carli Tops; Arie van Haeringen; F M Nagengast; I S van Leeuwen-Cornelisse; PM Khan; E A van Slooten
Familial adenomatous polyposis and its clinical surveillance.
The Netherlands journal of medicine 1993;42(3-4):105-8.
1992: Nelleke A Gruis; Jan Nico Bouwes Bavinck; P M Steijlen; J G van der Schroeff; Arie van Haeringen; Rudolf Happle; Edwin C M Mariman; Sylvia van Beersum; J Uitto; Bert-Jan Vermeer
Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds.
The Journal of investigative dermatology 1992;99(5):528-30.
1989: Arie van Haeringen; Wilma Bergman; M R Nelen; E van der Kooij-Meijs; I Hendrikse; Juul Wijnen; PM Khan; E C Klasen; Rune R Frants
Exclusion of the dysplastic nevus syndrome (DNS) locus from the short arm of chromosome 1 by linkage studies in Dutch families.
Genomics 1989;5(1):61-4.
1989: H F A Vasen; Wilma Bergman; Arie van Haeringen; E Scheffer; E A van Slooten
The familial dysplastic nevus syndrome. Natural history and the impact of screening on prognosis. A study of nine families in the Netherlands.
European journal of cancer & clinical oncology 1989;25(2):337-41.
1988: J G van der Schroeff; I van Leeuwen-Cornelisse; Arie van Haeringen; L N Went
Further evidence for localization of the gene of erythrokeratodermia variabilis.
Human genetics 1988;80(1):97-8.
1987: Wilma Bergman; A Palan; Arie van Haeringen; I van Leeuwen-Cornelisse; L N Went
[Familial dysplastic nevus syndrome in the Netherlands; various clinical and genetic aspects].
Nederlands tijdschrift voor geneeskunde 1987;131(23):994-6.
1987: J N Bouwes Bavinck; Arie van Haeringen; D Ruiter; J G van der Schroeff
Autosomal dominant epidermolysis bullosa dystrophica: are the Cockayne-Touraine, the Pasini and the Bart-types different expressions of the same mutant gene?
Clinical genetics 1987;31(6):416-24.