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1

Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue

Frans J. Los, Diane Van Opstal, Cardi Van Den Berg, Armando P. G. Braat, Senno Verhoef, Eveline Wesby-Van Swaay, Ans M. W. Van Den Ouweland, Dicky J. J. Halley

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 255 KB

english, 1998

2

Psychological impact of receiving a BRCA1/BRCA2 test result

Litanja Lodder, Petra G. Frets, R. Willem Trijsburg, E. Johanna Meijers-Heijboer, Jan G.M. Klijn, Hugo J. Duivenvoorden, Aad Tibben, Anja Wagner, Conny A. van der Meer, Ans M.W. van den Ouweland, Mart

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 164 KB

english, 2001

3

FGFs, their receptors, and human limb malformations: Clinical and molecular correlations

Andrew O.M. Wilkie, Susannah J. Patey, Shih-hsin Kan, Ans M.W. van den Ouweland, Ben C.J. Hamel

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 297 KB

english, 2002

4

Legius syndrome in fourteen families

Ellen Denayer, Magdalena Chmara, Hilde Brems, Anneke Maat Kievit, Yolande van Bever, Ans MW Van den Ouweland, Rick Van Minkelen, Arja de Goede-Bolder, Rianne Oostenbrink, Phillis Lakeman, Eline Beert,

Journal:

Year:

2011

Language:

english

File:

PDF, 644 KB

english, 2011

5

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

Sancak, Ozgur, Nellist, Mark, Goedbloed, Miriam, Elfferich, Peter, Wouters, Cokkie, Maat-Kievit, Anneke, Zonnenberg, Bernard, Verhoef, Senno, Halley, Dicky, van den Ouweland, Ans

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 131 KB

english, 2005

6

Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years

Celine H.M. Leenen, Margot G.F. van Lier, Helena C. van Doorn, Monique E. van Leerdam, Sjarlot G. Kooi, Judith de Waard, Robert F. Hoedemaeker, Ans M.W. van den Ouweland, Sanne M. Hulspas, Hendrikus J

Journal:

Gynecologic Oncology

Year:

2012

Language:

english

File:

PDF, 344 KB

english, 2012

7

Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers

Geurts-Giele, Willemina RR, Leenen, Celine HM, Dubbink, Hendrikus J, Meijssen, Isabelle C, Post, Edward, Sleddens, Hein FBM, Kuipers, Ernst J, Goverde, Anne, van den Ouweland, Ans MW, van Lier, Margot

Journal:

The Journal of Pathology

Year:

2014

Language:

english

File:

PDF, 617 KB

english, 2014

8

Clinical and Genetic Analysis of Patients with Saethre-Chotzen Syndrome

de Heer, Inge Marieke, de Klein, Annelies, van den Ouweland, Ans M., Vermeij-Keers, Christl, Wouters, Cokkie H., Vaandrager, Jan Michiel, Hovius, Steven E. R., Hoogeboom, Jeannette M.

Journal:

Plastic & Reconstructive Surgery

Year:

2005

Language:

english

File:

PDF, 836 KB

english, 2005

9

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

Tarailo-Graovac, Maja, Drögemöller, Britt I., Wasserman, Wyeth W., Ross, Colin J. D., van den Ouweland, Ans M. W., Darin, Niklas, Kollberg, Gittan, van Karnebeek, Clara D. M., Blomqvist, Maria

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 1002 KB

english, 2017

10

The fragile X phenotype in a mosaic male with a deletion showing expression of theFMR1 protein in 28% of the cells

de Graaff, Esther, de Vries, Bert B. A., Willemsen, Rob, van Hemel, Jan O., Mohkamsing, Serieta, Oostra, Ben A., van den Ouweland, Ans M. W.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 790 KB

english, 1996

11

Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy

Diane Van Opstal, Cardi van den Berg, Wout H. Deelen, Helen Brandenburg, Titia E. Cohen-Overbeek, Dicky J. J. Halley, Ans M. W. van den Ouweland, Peter A. In 't Veld, Frans J. Los

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 86 KB

english, 1998

12

Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype-phenotype correlations in neurofibromatosis type 1?

Marjon H. Cnossen, Mieke N. van der Est, Martijn H. Breuning, Christi J. van Asperen, Elisabeth J. Breslau-Siderius, Ans T. van der Ploeg, Arja de Goede-Bolder, Ans M. W. van den Ouweland, Dicky J. J.

Journal:

Year:

1997

Language:

english

File:

PDF, 202 KB

english, 1997

13

Validation of linkage-based DNA-diagnosis of fragile X gene carriers with the CGG repeat probe

Dr. Bernard A. Van Oost, Arie P. T. Smits, Jos C. F. M. Dreesen, Ans M. W. van den Ouweland, Ben A. Oostra

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 525 KB

english, 1992

14

DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene

Dr. Ans M. W. van den Ouweland, Bert B. A. de Vries, P. Lida G. Bakker, Wout H. Deelen, Esther de Graaff, Jan O. van Hemel, Ben A. Oostra, Martinus F. Niermeijer, Dicky J. J. Halley

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 450 KB

english, 1994

15

Strategy for reliable prenatal detection of normal male carriers of the fragile X syndrome

Dicky Halley, Ans Van Den Ouweland, Wout Deelen, Ishwar Verma, Ben Oostra

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 318 KB

english, 1994

16

Trigonocephaly in Muenke syndrome

Jacques van der Meulen, Ans van den Ouweland, Jeannette Hoogeboom

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 110 KB

english, 2006

17

Genome-wide linkage scan in Dutch hereditary non-BRCA1/2 breast cancer families identifies 9q21-22 as a putative breast cancer susceptibility locus

Rogier A. Oldenburg, Karin H. G. Kroeze-Jansema, Jeanine J. Houwing-Duistermaat, Jean-Pierre Bayley, Cheryl Dambrot, Christi J. van Asperen, Ans M. W. van den Ouweland, Bert Bakker, Erik H. van Beers,

Journal:

Genes, Chromosomes and Cancer

Year:

2008

Language:

english

File:

PDF, 319 KB

english, 2008

18

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting

Annemarie H. van der Hout, Ans M.W. van den Ouweland, Rob B. van der Luijt, Hans J.P. Gille, Daniëlle Bodmer, Hennie Brüggenwirth, Inge M. Mulder, Pieter van der Vlies, Peter Elfferich, Maarten T. Hui

Journal:

Year:

2006

Language:

english

File:

PDF, 292 KB

english, 2006

19

Genetic analysis of von Hippel-Lindau disease

Morgan Nordstrom-O'Brien, Rob B. van der Luijt, Ellen van Rooijen, Ans M. van den Ouweland, Danielle F. Majoor-Krakauer, Martijn P. Lolkema, Aram van Brussel, Emile E. Voest, Rachel H. Giles

Journal:

Year:

2010

Language:

english

File:

PDF, 397 KB

english, 2010

20

Identification of a region required for TSC1 stability by functional analysis ofTSC1missense mutations found in individuals with tuberous sclerosis complex

Melika Mozaffari, Marianne Hoogeveen-Westerveld, David Kwiatkowski, Julian Sampson, Rosemary Ekong, Sue Povey, Johan T den Dunnen, Ans van den Ouweland, Dicky Halley, Mark Nellist

Journal:

BMC Medical Genetics

Year:

2009

Language:

english

File:

PDF, 1.40 MB

english, 2009

21

Functional characterisation of the TSC1–TSC2 complex to assess multipleTSC2variants identified in single families affected by tuberous sclerosis complex

Mark Nellist, Őzgür Sancak, Miriam Goedbloed, Alwin Adriaans, Marja Wessels, Anneke Maat-Kievit, Marieke Baars, Charlotte Dommering, Ans van den Ouweland, Dicky Halley

Journal:

BMC Medical Genetics

Year:

2008

Language:

english

File:

PDF, 963 KB

english, 2008

22

Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome

Margot GF van Lier, Celine HM Leenen, Anja Wagner, Dewkoemar Ramsoekh, Hendrikus J Dubbink, Ans MW van den Ouweland, Pieter J Westenend, Eelco JR de Graaf, Leonieke MM Wolters, Wietske W Vrijland, Ern

Journal:

The Journal of Pathology

Year:

2012

Language:

english

File:

PDF, 214 KB

english, 2012

23

Fanconi anemia gene mutations are not involved in sporadic Wilms tumor

Muriel A. Adank, Heidi Segers, Saskia E. van Mil, Yvette M. van Helsdingen, Najim Ameziane, Ans M.W. van den Ouweland, Anja Wagner, Hanne Meijers-Heijboer, Marcel Kool, Jan de Kraker, Quinten Waisfisz

Journal:

Pediatric Blood & Cancer

Year:

2010

Language:

english

File:

PDF, 75 KB

english, 2010

24

Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister–killian syndrome

Frans J. Los, Diane Van Opstal, Martin P. Schol, Johannes L. J. Gaillard, Helen Brandenburg, Ans M. W. Van Den Ouweland, Peter A. In 'T Veld

Journal:

Prenatal Diagnosis

Year:

1995

Language:

english

File:

PDF, 431 KB

english, 1995

25

Immunological detection of polycystin-1 in human kidney

Jeroen Nauta, Miriam A. Goedbloed, Ans M.W. van den Ouweland, Mark Nellist, André T. Hoogeveen

Journal:

Histochemistry and Cell Biology

Year:

2000

Language:

english

File:

PDF, 992 KB

english, 2000

26

Diagnosis of alpha-1-antitrypsin deficiency in bleeding disorder-related neonatal death

Gursah Kats-Ugurlu, Marije Hogeveen, Ann Driessen, Ans M. W. van den Ouweland, Christina Hulsbergen-van de Kaa

Journal:

European Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 202 KB

english, 2011

27

Paternal origin ofFGFR3mutations in Muenke-type craniosynostosis

Sahan V. Rannan-Eliya, Indira B. Taylor, I. Marieke. de Heer, Ans M. W. van den Ouweland, Steven A. Wall, Andrew O. M. Wilkie

Journal:

Year:

2004

Language:

english

File:

PDF, 462 KB

english, 2004

28

Screening with the FMR1 protein test among mentally retarded males

B. B. A. de Vries, Serieta Mohkamsing, Ans M. W. van den Ouweland, Dicky J. J. Halley, Martinus F. Niermeijer, Ben A. Oostra, Rob Willemsen

Journal:

Year:

1998

Language:

english

File:

PDF, 56 KB

english, 1998

29

Selection bias influences reported contralateral breast cancer incidence and survival in high risk non-BRCA1/2 patients

Madeleine M.A. Tilanus-Linthorst, Karina C.M. Bartels, Celina Alves, Bonnie Bakri, Ellen Crepin, Ans van den Ouweland, Jan G.M. Klijn, Hanne Meijers-Heijboer, Cecile T.M. Brekelmans

Journal:

Breast Cancer Research and Treatment

Year:

2006

Language:

english

File:

PDF, 247 KB

english, 2006

30

MDM2SNP309 accelerates familial breast carcinogenesis independently of estrogen signaling

Marijke Wasielewski, Jord H. A. Nagel, Cecile Brekelmans, Jan G. M. Klijn, Ans van den Ouweland, Hanne Meijers-Heijboer, Mieke Schutte

Journal:

Breast Cancer Research and Treatment

Year:

2007

Language:

english

File:

PDF, 155 KB

english, 2007

31

Distant disease-free interval, site of first relapse and post-relapse survival in BRCA1- and BRCA2-associated compared to sporadic breast cancer patients

Mieke Kriege, Caroline Seynaeve, Hanne Meijers-Heijboer, J. Margriet Collee, Marian B. E. Menke-Pluymers, Carina C. M. Bartels, Madeleine M. A. Tilanus-Linthorst, Ans van den Ouweland, Bert van Geel,

Journal:

Breast Cancer Research and Treatment

Year:

2008

Language:

english

File:

PDF, 200 KB

english, 2008

32

CHEK21100delC and male breast cancer in the Netherlands

Marijke Wasielewski, Michael A. den Bakker, Ans van den Ouweland, Marion E. Meijer-van Gelder, Henk Portengen, Jan G. M. Klijn, Hanne Meijers-Heijboer, John A. Foekens, Mieke Schutte

Journal:

Breast Cancer Research and Treatment

Year:

2009

Language:

english

File:

PDF, 162 KB

english, 2009

33

DeleteriousCHEK21100delC and L303X mutants identified among 38 human breast cancer cell lines

Marijke Wasielewski, Pejman Hanifi-Moghaddam, Antoinette Hollestelle, Sofia D. Merajver, Ans van den Ouweland, Jan G. M. Klijn, Stephen P. Ethier, Mieke Schutte

Journal:

Breast Cancer Research and Treatment

Year:

2009

Language:

english

File:

PDF, 303 KB

english, 2009

34

Lack of large genomic deletions inBRIP1,PALB2, andFANCD2genes inBRCA1/2negative familial breast cancer

Najim Ameziane, Ans M. W. van den Ouweland, Muriel A. Adank, Raymond N. C. P. Vijzelaar, Abdellatif Errami, Josephine C. Dorsman, Hans Joenje, Hanne Meijers-Heijboer, Quinten Waisfisz

Journal:

Breast Cancer Research and Treatment

Year:

2009

Language:

english

File:

PDF, 158 KB

english, 2009

35

Association of rareMSH6variants with familial breast cancer

Marijke Wasielewski, Muhammad Riaz, Joyce Vermeulen, Ans van den Ouweland, Ineke Labrijn-Marks, Renske Olmer, Linda van der Spaa, Jan G. M. Klijn, Hanne Meijers-Heijboer, Dennis Dooijes, Mieke Schutte

Journal:

Breast Cancer Research and Treatment

Year:

2010

Language:

english

File:

PDF, 193 KB

english, 2010

36

IncreasedMUTYHmutation frequency among Dutch families with breast cancer and colorectal cancer

Marijke Wasielewski, Astrid A. Out, Joyce Vermeulen, Maartje Nielsen, Ans van den Ouweland, Carli M. J. Tops, Juul T. Wijnen, Hans F. A. Vasen, Marjan M. Weiss, Jan G. M. Klijn, Peter Devilee, Frederi

Journal:

Breast Cancer Research and Treatment

Year:

2010

Language:

english

File:

PDF, 225 KB

english, 2010

37

Attitude towards pre-implantation genetic diagnosis for hereditary cancer

Chantal Lammens, Eveline Bleiker, Neil Aaronson, Annette Vriends, Margreet Ausems, Maaike Jansweijer, Anja Wagner, Rolf Sijmons, Ans van den Ouweland, Rob van der Luijt, Liesbeth Spruijt, Encarna Góme

Journal:

Familial Cancer

Year:

2009

Language:

english

File:

PDF, 321 KB

english, 2009

38

Identification of a large rearrangement inCYLDas a cause of familial cylindromatosis

Ans M. W. van den Ouweland, Peter Elfferich, Roy Lamping, Raoul van de Graaf, Monique M. van Veghel-Plandsoen, S. M. Franken, A. C. Houweling

Journal:

Familial Cancer

Year:

2011

Language:

english

File:

PDF, 294 KB

english, 2011

39

Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complex

Karin Boer, Dirk Troost, Floor Jansen, Mark Nellist, Ans M.W. Van Den Ouweland, Jeroen J.G. Geurts, Wim G.M. Spliet, Peter Crino, Eleonora Aronica

Journal:

Year:

2008

Language:

english

File:

PDF, 1.49 MB

english, 2008

40

A reliable cell-based assay for testing unclassified TSC2 gene variants

Coevoets, Ricardo, Arican, Sermin, Hoogeveen-Westerveld, Marianne, Simons, Erik, van den Ouweland, Ans, Halley, Dicky, Nellist, Mark

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 654 KB

english, 2008

41

Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

van den Ouweland, Ans M W, Elfferich, Peter, Zonnenberg, Bernard A, Arts, Willem F, Kleefstra, Tjitske, Nellist, Mark D, Millan, Jose M, Withagen-Hermans, Caroline, Maat-Kievit, Anneke J A, Halley, Di

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 546 KB

english, 2010

42

Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism

van Veghel-Plandsoen, Monique M, Wouters, Cokkie H, Kromosoeto, Joan N R, den Ridder-Klünnen, Mariska C, Halley, Dicky J J, van den Ouweland, Ans M W

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 406 KB

english, 2011

43

Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus

Knoers, Nine V A M, van den Ouweland, Ans M W, Verdijk, Marian, Monnens, Leo A H, van Oost, Bernard A

Journal:

Kidney International

Year:

1994

Language:

english

File:

PDF, 444 KB

english, 1994

44

Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus

van den Ouweland, Ans M.W., Dreesen, Jos C.F.M., Verdijk, Marian, Knoers, Nine V.A.M., Monnens, Leo A.H., Rocchi, Mariano, van Oost, Bernard A.

Journal:

Nature Genetics

Year:

1992

File:

PDF, 697 KB

1992

45

Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations

Meijers-Heijboer, Hanne, van den Ouweland, Ans, Klijn, Jan, Wasielewski, Marijke, de Snoo, Anja, Oldenburg, Rogier, Hollestelle, Antoinette, Houben, Mark, Crepin, Ellen, van Veghel-Plandsoen, Monique

Journal:

Nature Genetics

Year:

2002

Language:

english

File:

PDF, 109 KB

english, 2002

46

Analysis of TSC2 stop codon variants found in tuberous sclerosis patients

Goedbloed, Miriam A, Nellist, Mark, Verhaaf, Brenda, Reuser, Arnold J J, Lindhout, Dick, Sunde, Lone, Verhoef, Senno, Halley, Dicky J J, van den Ouweland, Ans M W

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 166 KB

english, 2001

47

Distinct effects of single amino-acid changes to tuberin on the function of the tuberin–hamartin complex

Nellist, Mark, Sancak, Ozgur, Goedbloed, Miriam A, Rohe, Christan, van Netten, Diana, Mayer, Karin, Tucker-Williams, Aimee, van den Ouweland, Ans M W, Halley, Dicky J J

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 282 KB

english, 2004

48

Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation

Piranit Nik Kantaputra, Ans van den Ouweland, Tumtip Sangruchi, Chanin Limwongse

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 264 KB

english, 2012

49

Gene expression profiling assignsCHEK21100delC breast cancers to the luminal intrinsic subtypes

Jord H. A. Nagel, Justine K. Peeters, Marcel Smid, Anieta M. Sieuwerts, Marijke Wasielewski, Vanja de Weerd, Anita M. A. C. Trapman-Jansen, Ans van den Ouweland, Hennie Brüggenwirth, Wilfred F. J. van

Journal:

Breast Cancer Research and Treatment

Year:

2012

Language:

english

File:

PDF, 394 KB

english, 2012

50

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants;BRCA1andBRCA2as an example

Leila Mohammadi, Maaike P Vreeswijk, Rogier Oldenburg, Ans van den Ouweland, Jan C Oosterwijk, Annemarie H van der Hout, Nicoline Hoogerbrugge, Marjolijn Ligtenberg, Margreet G Ausems, Rob B van der L

Journal:

Year:

2009

Language:

english

File:

PDF, 296 KB

english, 2009