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Annemarie Van Der Hout

Research Profile

Physiology

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Anatomy

Chromosomes, Human, Pair 3

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Paulien Terhal; Edward S Tobias; Annemarie H Van Der Hout; Paula van Dommelen; Andreas Zankl; Marleen E H Simon; Sarah F Smithson; Regina C Betz; Valérie Cormier-Daire; Paul Coucke; Linda Goodwin; Raoul C M Hennekam; Bronwyn Kerr; Esther Kinning; Martine Le Merrer; Melissa Lees; Allan M Lund; Sahar Mansour; Carlo Marcelis; André Mégarbané; Geert R Mortier
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
Charlotte Dommering; Saskia M Imhof; Tamara Marees; Hanne Meijers-Heijboer; Peter J Ringens; Annemarie H Van Der Hout; Flora E van Leeuwen; Annette C Moll
RB1 mutations and second primary malignancies after hereditary retinoblastoma.
Marie-José van den Boogaard; Annemarie H Van Der Hout; Yvon Bronkhorst; Marijn Créton; Marco S Cune; Eric Hennekam; Dick Lindhout; Hans Kristian Ploos van Amstel
Mutations in WNT10A are present in more than half of isolated hypodontia cases.

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All Publications

2012: Paulien Terhal; Edward S Tobias; Annemarie H Van Der Hout; Paula van Dommelen; Andreas Zankl; Marleen E H Simon; Sarah F Smithson; Regina C Betz; Valérie Cormier-Daire; Paul Coucke; Linda Goodwin; Raoul C M Hennekam; Bronwyn Kerr; Esther Kinning; Martine Le Merrer; Melissa Lees; Allan M Lund; Sahar Mansour; Carlo Marcelis; André Mégarbané; Geert R Mortier
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
American journal of medical genetics. Part C, Seminars in medical genetics 2012;160C(3):205-16.
2012: Charlotte Dommering; Saskia M Imhof; Tamara Marees; Hanne Meijers-Heijboer; Peter J Ringens; Annemarie H Van Der Hout; Flora E van Leeuwen; Annette C Moll
RB1 mutations and second primary malignancies after hereditary retinoblastoma.
Familial cancer 2012;11(2):225-33.
2012: Marie-José van den Boogaard; Annemarie H Van Der Hout; Yvon Bronkhorst; Marijn Créton; Marco S Cune; Eric Hennekam; Dick Lindhout; Hans Kristian Ploos van Amstel
Mutations in WNT10A are present in more than half of isolated hypodontia cases.
Journal of medical genetics 2012;49(5):327-31.
2010: Dorina M van der Kolk; Geertruida H de Bock; Beike K Leegte; Michael Schaapveld; Marian J E Mourits; Jakob de Vries; Annemarie H Van Der Hout; Jan C Oosterwijk
Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: high cancer incidence at older age.
Breast cancer research and treatment 2010;124(3):643-51.
2010: Marielle W G Ruijs; Senno Verhoef; Matti A Rookus; Roelof Pruntel; Annemarie H Van Der Hout; Frans B L Hogervorst; Irma Kluijt; Rolf Sijmons; Cora M Aalfs; Anja Wagner; Margreet G E M Ausems; Nicoline Hoogerbrugge; Christi J van Asperen; Encarna B Gomez Garcia; Hanne Meijers-Heijboer; Leo P Ten Kate; Fred H Menko; Laura J van 't Veer
TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.
Journal of medical genetics 2010;47(6):421-8.
2009: Maurice A M van Steensel; Annemarie H Van Der Hout
Lelis Syndrome may be a manifestation of hypohidrotic ectodermal dysplasia.
American journal of medical genetics. Part A 2009;149A(7):1612-3.
2009: Leila Mohammadi; Maaike P Vreeswijk; Rogier Oldenburg; Ans van den Ouweland; Jan C Oosterwijk; Annemarie H Van Der Hout; Nicoline Hoogerbrugge; M J L Ligtenberg; Margreet G E M Ausems; Rob B van der Luijt; Charlotte J Dommering; Johan J Gille; Senno Verhoef; Frans B Hogervorst; Theo A M van Os; Encarna Gómez García; Marinus J Blok; Juul Wijnen; Quinta Helmer; Peter Devilee; Christi J van Asperen; Hans C van Houwelingen
A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.
BMC cancer 2009;9():211.
2009: Encarnación B Gómez García; Jan C Oosterwijk; Maarten Timmermans; Christi J van Asperen; Frans B L Hogervorst; Nicoline Hoogerbrugge; Rogier Oldenburg; Senno Verhoef; Charlotte J Dommering; Margreet G E M Ausems; Theo A M van Os; Annemarie H Van Der Hout; M J L Ligtenberg; Ans van den Ouweland; Rob B van der Luijt; Juul Wijnen; Jan J P Gille; Patrick J Lindsey; Peter Devilee; Marinus J Blok; Maaike P G Vreeswijk
A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history.
Breast cancer research : BCR 2009;11(1):R8.
2008: Annemarie H Van Der Hout; Grétel G Oudesluijs; Andrea Venema; Joke B G M Verheij; Bart G J Mol; Patrick Rump; Han G Brunner; Yvonne J Vos; Anthonie J van Essen
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.
European journal of human genetics : EJHG 2008;16(6):673-9.
2007: J Peter van Tintelen; Rene A Tio; Wilhelmina S Kerstjens-Frederikse; Jop H van Berlo; Ludolf G Boven; Albert J H Suurmeijer; Stefan J White; Johan T den Dunnen; Gerard te Meerman; Yvonne J Vos; Annemarie H Van Der Hout; Jan Osinga; Maarten P van den Berg; Dirk J van Veldhuisen; Charles H C M Buys; Robert M W Hofstra; Yigal M Pinto
Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene.
Journal of the American College of Cardiology 2007;49(25):2430-9.
2006: Daniëlle Bodmer; M J L Ligtenberg; Annemarie H Van Der Hout; S Gloudemans; K Ansink; Jan C Oosterwijk; Nicoline Hoogerbrugge
Optimal selection for BRCA1 and BRCA2 mutation testing using a combination of 'easy to apply' probability models.
British journal of cancer 2006;95(6):757-62.
2006: Annemarie H Van Der Hout; Ans M W van den Ouweland; Rob B van der Luijt; Hans J P Gille; Daniëlle Bodmer; Hennie T Brüggenwirth; Inge M Mulder; Pieter van der Vlies; Peter Elfferich; Maarten Huisman; Annelies M ten Berge; Joan Kromosoeto; Rumo P M Jansen; Patrick H A van Zon; Thyrsa Vriesman; Neeltje J W Arts; Majella Boutmy-de Lange; Jan C Oosterwijk; Hanne Meijers-Heijboer; Margreet G E M Ausems; Nicoline Hoogerbrugge; Senno Verhoef; D J J Halley; Yvonne J Vos; Frans B L Hogervorst; M J L Ligtenberg; Robert M W Hofstra
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
Human mutation 2006;27(7):654-66.
2006: Maarten Jansen; C M L van Dael; Annemarie A Verrijn Stuart; Annemarie H Van Der Hout; P Rump
[From gene to disease; hypophosphataemic rickets and the PHEX gene].
Nederlands tijdschrift voor geneeskunde 2006;150(25):1390-4.
2005: Jan Veldink; Sandra Kalmijn; Annemarie H Van Der Hout; H H Lemmink; Geert Jan Groeneveld; C Lummen; Hans Scheffer; J H J Wokke; Leonard H Van den Berg
SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS.
Neurology 2005;65(6):820-5.
2005: Mirjam M de Jong; Ilja M Nolte; Gerard te Meerman; Winette T A van der Graaf; Elvira Oosterom; Marcel Bruinenberg; Gerrit van der Steege; Jan C Oosterwijk; Annemarie H Van Der Hout; H Marike Boezen; Michael Schaapveld; Jan H Kleibeuker; Elisabeth G E de Vries
No increased susceptibility to breast cancer from combined CHEK2 1100delC genotype and the HLA class III region risk factors.
European journal of cancer (Oxford, England : 1990) 2005;41(12):1819-23.
2005: B Leegte; Annemarie H Van Der Hout; A M Deffenbaugh; M K Bakker; Inge M Mulder; A ten Berge; E P Leenders; Jelle Wesseling; Joanne A de Hullu; Nicoline Hoogerbrugge; M J L Ligtenberg; Audrey Ardern-Jones; Elizabeth Bancroft; Ashi Salmon; Julian Barwell; Rosalind Eeles; Jan C Oosterwijk
Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutations.
Journal of medical genetics 2005;42(3):e20.
2004: Robert M W Hofstra; Inge M Mulder; Rolf H A M Vossen; Pia A M de Koning-Gans; Marian Kraak; Ieke B Ginjaar; Annemarie H Van Der Hout; Egbert Bakker; Charles H C M Buys; Gert-Jan B van Ommen; Anthonie J van Essen; Johan T den Dunnen
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.
Human mutation 2004;23(1):57-66.
2003: Mirjam M de Jong; Ilja M Nolte; Elisabeth G E de Vries; Michael Schaapveld; Jan H Kleibeuker; Elvira Oosterom; Jan C Oosterwijk; Annemarie H Van Der Hout; Gerrit van der Steege; Marcel Bruinenberg; H Marike Boezen; Gerard te Meerman; Winette T A van der Graaf
The HLA class III subregion is responsible for an increased breast cancer risk.
Human molecular genetics 2003;12(18):2311-9.
2003: Anthonie J van Essen; Inge M Mulder; Pieter van der Vlies; Annemarie H Van Der Hout; Charles H C M Buys; Robert M W Hofstra; Johan T den Dunnen
Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy.
American journal of medical genetics. Part A 2003;118A(3):296-8.
2002: Annemarie H Van Der Hout; Edwin Verlind; Frits A Beemer; Charles H C M Buys; Robert M W Hofstra; Hans Scheffer
Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome.
Human mutation 2002;20(3):236.
2002: B Nieuwenhuis; A J Van Assen-Bolt; M A W H Van Waarde-Verhagen; Rolf Sijmons; Annemarie H Van Der Hout; Thomas Bauch; Christian Streffer; Harm H Kampinga
BRCA1 and BRCA2 heterozygosity and repair of X-ray-induced DNA damage.
International journal of radiation biology 2002;78(4):285-95.
2002: Johannes G Dauwerse; Katelijne Bouman; Anthonie J van Essen; Annemarie H Van Der Hout; G Kolsters; Martijn H Breuning; Dorien J M Peters
Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome.
Journal of medical genetics 2002;39(2):136-41.
2001: Maarten P van den Berg; Arthur A M Wilde; Jan Brouwer; Jaap Haaksma; Annemarie H Van Der Hout; I Stolte-Dijkstra; Irene M van Langen; Gertie C M Beaufort-Krol; Jan Hein Cornel; Harry J G M Crijns
Possible bradycardic mode of death and successful pacemaker treatment in a large family with features of long QT syndrome type 3 and Brugada syndrome.
Journal of cardiovascular electrophysiology 2001;12(6):630-6.
2000: Rolf Sijmons; Robert M W Hofstra; Harry Hollema; Rob G J Mensink; Annemarie H Van Der Hout; H Hoekstra; Jan H Kleibeuker; Willemina M Molenaar; Juul Wijnen; R Fodde; H F A Vasen; Charles H C M Buys
Inclusion of malignant fibrous histiocytoma in the tumour spectrum associated with hereditary non-polyposis colorectal cancer.
Genes, chromosomes & cancer 2000;29(4):353-5.
1999: Connie R Bezzina; Marieke W Veldkamp; Maarten P van den Berg; Alex V Postma; Martin B Rook; J W Viersma; Irene M van Langen; G Tan-Sindhunata; Margreet Th E Bink-Boelkens; Annemarie H Van Der Hout; marcel mannens; Arthur A M Wilde
A single Na(+) channel mutation causing both long-QT and Brugada syndromes.
Circulation research 1999;85(12):1206-13.
1999: Mirjam Mastik; Willemina M Molenaar; Boudewijn E C Plaat; S S de Graaf; Pancras Hogendoorn; Annemarie H Van Der Hout; Eva van den Berg
Translocation (11;22)(q24;q12) in a small cell tumor of the thigh in a 2-year-old boy: immunohistology, cytogenetics, molecular genetics, and review of the literature.
Human pathology 1999;30(3):352-5.
1998: H Y Kroes; Rolf Sijmons; Anke Van den Berg; Annemarie H Van Der Hout
Early-onset renal cell cancer and bilateral epididymal cysts as presenting symptoms of von Hippel-Lindau disease.
British journal of urology 1998;81(6):915.
1997: Anne Dørum; Pål Møller; E J Kamsteeg; Hans Scheffer; M Burton; Ketil Heimdal; Lovise Maehle; Eivind Hovig; Claes G Tropé; Annemarie H Van Der Hout; MA van der Meulen; Charles H C M Buys; Gerard te Meerman
A BRCA1 founder mutation, identified with haplotype analysis, allowing genotype/phenotype determination and predictive testing.
European journal of cancer (Oxford, England : 1990) 1997;33(14):2390-2.
1997: Anthonie J van Essen; A L J Kneppers; Annemarie H Van Der Hout; Hans Scheffer; Ieke B Ginjaar; Leo P ten Kate; Gert-Jan B van Ommen; Charles H C M Buys; Egbert Bakker
The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.
Journal of medical genetics 1997;34(10):805-12.
1997: T Peelen; Marcel van Vliet; A Petrij-Bosch; R Mieremet; C Szabo; Ans M W van den Ouweland; Frans B L Hogervorst; Richard Brohet; M J L Ligtenberg; E Teugels; Rob B van der Luijt; Annemarie H Van Der Hout; Johan J P Gille; Gerard Pals; Inge Jedema; R Olmer; Inge van Leeuwen; B Newman; M Plandsoen; M van der Est; G Brink; S Hageman; PJ Arts; M M Bakker; Peter Devilee
A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families.
American journal of human genetics 1997;60(5):1041-9.
1995: K H Gan; Henk J Veeze; A M van den Ouweland; D J J Halley; H Scheffer; Annemarie H Van Der Hout; Shelley E Overbeek; Johan C de Jongste; W Bakker; Harry G M Heijerman
A cystic fibrosis mutation associated with mild lung disease.
The New England journal of medicine 1995;333(2):95-9.
1995: Annemarie H Van Der Hout; M M Hulsbeek; Charles H C M Buys
Construction of a pulsed-field map around D3S3 using partially demethylated DNA.
Cytogenetics and cell genetics 1995;70(1-2):134-7.
1994: Klaas Kok; Anke Van den Berg; P M Veldhuis; Anneke Y van der Veen; M Franke; Eric F P M Schoenmakers; M M Hulsbeek; Annemarie H Van Der Hout; Lou de Leij; W van de Ven
A homozygous deletion in a small cell lung cancer cell line involving a 3p21 region with a marked instability in yeast artificial chromosomes.
Cancer research 1994;54(15):4183-7.
1993: Eva van den Berg; Annemarie H Van Der Hout; J Wolter Oosterhuis; Stephan Störkel; Trijnie Dijkhuizen; A Dam; H M Zweers; H J A Mensink; Charles H C M Buys; Bauke de Jong
Cytogenetic analysis of epithelial renal-cell tumors: relationship with a new histopathological classification.
International journal of cancer. Journal international du cancer 1993;55(2):223-7.
1993: Annemarie H Van Der Hout; Eva van den Berg; Pieter van der Vlies; Trijnie Dijkhuizen; Stephan Störkel; J Wolter Oosterhuis; Bauke de Jong; Charles H C M Buys
Loss of heterozygosity at the short arm of chromosome 3 in renal-cell cancer correlates with the cytological tumour type.
International journal of cancer. Journal international du cancer 1993;53(3):353-7.
1991: Annemarie H Van Der Hout; Pieter van der Vlies; Cisca Wijmenga; Frederick P Li; J Wolter Oosterhuis; Charles H C M Buys
The region of common allelic losses in sporadic renal cell carcinoma is bordered by the loci D3S2 and THRB.
Genomics 1991;11(3):537-42.
1991: Annemarie H Van Der Hout; R S Brown; Frederick P Li; Charles H C M Buys
Localization by in situ hybridization of three 3p probes with respect to the breakpoint in a t(3;8) in hereditary renal cell carcinoma.
Cancer genetics and cytogenetics 1991;51(1):121-4.
1989: Annemarie H Van Der Hout; Klaas Kok; Anneke Y van der Veen; Jan Osinga; Lou F M H De Leij; Charles H C M Buys
Localization of amplified c-myc and n-myc in small cell lung cancer cell lines.
Cancer genetics and cytogenetics 1989;38(1):1-8.
1988: Annemarie H Van Der Hout; Anneke Y van der Veen; Jacob A Aten; Charles H C M Buys
Localization of DNA probes with tight linkage to the cystic fibrosis locus by in situ hybridization using fibroblasts with a 7q22 deletion.
Human genetics 1988;80(2):161-4.
1988: Klaus D Zang; H Fischer; Annemarie H Van Der Hout; Gerhard Unteregger; Wolfram Henn; H Scheffer; C Wollenberg; Charles H C M Buys; nikolaus blin
A human glioblastoma line with karyotypic nullisomy 13 containing several chromosome 13-specific sequences.
Cancer genetics and cytogenetics 1988;33(1):127-32.
1988: Annemarie H Van Der Hout; Klaas Kok; Anke Van den Berg; J Wolter Oosterhuis; B Carritt; Charles H C M Buys
Direct molecular analysis of a deletion of 3p in tumors from patients with sporadic renal cell carcinoma.
Cancer genetics and cytogenetics 1988;32(2):281-5.
1987: Klaas Kok; Jan Osinga; B Carritt; M B Davis; Annemarie H Van Der Hout; Anneke Y van der Veen; R M Landsvater; Lou F M H De Leij; H H Berendsen; Pieter E Postmus
Deletion of a DNA sequence at the chromosomal region 3p21 in all major types of lung cancer.
Nature 1987;330(6148):578-81.
1987: Charles H C M Buys; Jan Osinga; Anneke Y van der Veen; H Mooibroek; Annemarie H Van Der Hout; Lou de Leij; Pieter E Postmus; B Carritt
Genome analysis of small cell lung cancer (SCLC) and clinical significance.
European journal of respiratory diseases. Supplement 1987;149():29-36.
1986: Hans Scheffer; D van der Lelie; G H Aanstoot; N Goor; A J Nienhaus; Annemarie H Van Der Hout; P L Pearson; Charles H C M Buys
A straightforward approach to isolate DNA sequences with potential linkage to the retinoblastoma locus.
Human genetics 1986;74(3):249-55.