Works matching AU van den Ouweland, Ans

Results: 62

Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 409, doi. 10.1002/humu.22256

By:

Hoogeveen‐Westerveld, Marianne;
Ekong, Rosemary;
Povey, Sue;
Mayer, Karin;
Lannoy, Nathalie;
Elmslie, Frances;
Bebin, Martina;
Dies, Kira;
Thompson, Catherine;
Sparagana, Steven P.;
Davies, Peter;
van Eeghen, Agnies M.;
Thiele, Elizabeth A.;
van den Ouweland, Ans;
Halley, Dicky;
Nellist, Mark

Publication type:

Article

Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 167, doi. 10.1002/humu.22202

By:

Hoogeveen‐Westerveld, Marianne;
Ekong, Rosemary;
Povey, Sue;
Mayer, Karin;
Lannoy, Nathalie;
Elmslie, Frances;
Bebin, Martina;
Dies, Kira;
Thompson, Catherine;
Sparagana, Steven P.;
Davies, Peter;
van den Ouweland, Ans;
Halley, Dicky;
Nellist, Mark

Publication type:

Article

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 476, doi. 10.1002/humu.22007

By:

Hoogeveen-Westerveld, Marianne;
Ekong, Rosemary;
Povey, Sue;
Karbassi, Izabela;
Batish, Sat Dev;
den Dunnen, Johan T.;
van Eeghen, Agnies;
Thiele, Elizabeth;
Mayer, Karin;
Dies, Kira;
Wen, Li;
Thompson, Catherine;
Sparagana, Steven P.;
Davies, Peter;
Aalfs, Cora;
van den Ouweland, Ans;
Halley, Dicky;
Nellist, Mark

Publication type:

Article

Recurrence and variability of germline EPCAM deletions in Lynch syndrome.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. 407, doi. 10.1002/humu.21446

By:

Kuiper, Roland P.;
Vissers, Lisenka E. L. M.;
Venkatachalam, Ramprasath;
Bodmer, Danielle;
Hoenselaar, Eveline;
Goossens, Monique;
Haufe, Aline;
Kamping, Eveline;
Niessen, Renée C.;
Hogervorst, Frans B. L.;
Gille, Johan J. P.;
Redeker, Bert;
Tops, Carli M. J.;
van Gijn, Marielle E.;
van den Ouweland, Ans M.W.;
Rahner, Nils;
Steinke, Verena;
Kahl, Philip;
Holinski-Feder, Elke;
Morak, Monika

Publication type:

Article

Legius syndrome in fourteen families.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. E1985, doi. 10.1002/humu.21404

By:

Denayer, Ellen;
Chmara, Magdalena;
Brems, Hilde;
Kievit, Anneke Maat;
van Bever, Yolande;
Van den Ouweland, Ans MW;
Van Minkelen, Rick;
de Goede-Bolder, Arja;
Oostenbrink, Rianne;
Lakeman, Phillis;
Beert, Eline;
Ishizaki, Takuma;
Mori, Tomoaki;
Keymolen, Kathelijn;
Van den Ende, Jenneke;
Mangold, Elisabeth;
Peltonen, Sirkku;
Brice, Glen;
Rankin, Julia;
Van Spaendonck-Zwarts, Karin Y

Publication type:

Article

Leiden open variation database of the MUTYH gene.

Published in:

2010

By:

Out, Astrid A.;
Tops, Carli M.J.;
Nielsen, Maartje;
Weiss, Marjan M.;
van Minderhout, Ivonne J.H.M.;
Fokkema, Ivo F.A.C.;
Buisine, Marie-Pierre;
Claes, Kathleen;
Colas, Chrystelle;
Fodde, Riccardo;
Fostira, Florentia;
Franken, Patrick F.;
Gaustadnes, Mette;
Heinimann, Karl;
Hodgson, Shirley V.;
Hogervorst, Frans B.L.;
Holinski-Feder, Elke;
Lagerstedt-Robinson, Kristina;
Olschwang, Sylviane;
Ans M.W., van den Ouweland

Publication type:

Other

Genetic analysis of von Hippel-Lindau disease.

Published in:

2010

By:

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

Publication type:

Other

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

Published in:

Human Mutation, 2006, v. 27, n. 7, p. 654, doi. 10.1002/humu.20340

By:

Hout, Annemarie H. van der;
Ouweland, Ans M.W. van den;
Luijt, Rob B. van der;
Gille, Hans J.P.;
Bodmer, Daniëlle;
Brüggenwirth, Hennie;
Mulder, Inge M.;
Vlies, Pieter van der;
Elfferich, Peter;
Huisman, Maarten T.;
Berge, Annelies M. ten;
Kromosoeto, Joan;
Jansen, Rumo P.M.;
Zon, Patrick H.A. van;
Vriesman, Thyrsa;
Arts, Neeltje;
Lange, Majella Boutmy-de;
Oosterwijk, Jan C.;
Meijers-Heijboer, Hanne;
Ausems, Margreet G.E.M.

Publication type:

Article

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

Published in:

2011

By:

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

Publication type:

journal article

Missense mutations to the TSC1 gene cause tuberous sclerosis complex.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 319, doi. 10.1038/ejhg.2008.170

By:

Nellist, Mark;
van den Heuvel, Diana;
Schluep, Diane;
Exalto, Carla;
Goedbloed, Miriam;
Maat-Kievit, Anneke;
van Essen, Ton;
van Spaendonck-Zwarts, Karin;
Jansen, Floor;
Helderman, Paula;
Bartalini, Gabriella;
Vierimaa, Outi;
Penttinen, Maila;
van den Ende, Jenneke;
van den Ouweland, Ans;
Halley, Dicky

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 301, doi. 10.1038/ejhg.2008.184

By:

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

Publication type:

Article

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.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 6, p. 731, doi. 10.1038/sj.ejhg.5201402

By:

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

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 1, p. 59, doi. 10.1038/sj.ejhg.5201276

By:

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.

Publication type:

Article

Analysis of TSC2 stop codon variants found in tuberous sclerosis patients.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 11, p. 823, doi. 10.1038/sj.ejhg.5200728

By:

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

Publication type:

Article

Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

Published in:

Nature Genetics, 2013, v. 45, n. 4, p. 392, doi. 10.1038/ng.2561

By:

Garcia-Closas, Montserrat;
Feigelson, Heather S;
Kauppila, Saila;
Knight, Julia A;
Glendon, Gord;
Mulligan, Anna Marie;
Tollenaar, Robertus A E M;
van den Ouweland, Ans M W;
van Deurzen, Carolien H M;
Lu, Wei;
Gao, Yu-Tang;
Cross, Simon S;
Le Marchand, Loic;
Cai, Qiuyin;
Shah, Mitul;
Dunning, Alison M;
Miao, Hui;
Chia, Kee Seng;
Chan, Ching Wan;
Hsiung, Chia-Ni

Publication type:

Article

Genome-wide association study identifies five new breast cancer susceptibility loci.

Published in:

Nature Genetics, 2010, v. 42, n. 6, p. 504, doi. 10.1038/ng.586

By:

Turnbull, Clare;
Ahmed, Shahana;
Morrison, Jonathan;
Pernet, David;
Renwick, Anthony;
Maranian, Mel;
Seal, Sheila;
Ghoussaini, Maya;
Hines, Sarah;
Healey, Catherine S.;
Hughes, Deborah;
Warren-Perry, Margaret;
Tapper, William;
Eccles, Diana;
Evans, D. Gareth;
Hooning, Maartje;
Schutte, Mieke;
van den Ouweland, Ans;
Houlston, Richard;
Ross, Gillian

Publication type:

Article

Low-penetrance susceptibility to breast cancer due to CHEK2<sup>*</sup>1100delC in noncarriers of BRCA1 or BRCA2 mutations.

Published in:

Nature Genetics, 2002, v. 31, n. 1, p. 55

By:

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;
Elstrodt, Fons;
van Duijn, Cornelia;
Bartels, Carina;
Meijers, Carel;
Schutte, Mieke;
McGuffog, Lesley;
Thompson, Deborah;
Easton, Douglas F.;
Sodha, Nayanta

Publication type:

Article

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

Published in:

Genes, Chromosomes & Cancer, 2008, v. 47, n. 11, p. 947, doi. 10.1002/gcc.20597

By:

Oldenburg, Rogier A.;
Kroeze-Jansema, Karin H. G.;
Houwing-Duistermaat, Jeanine J.;
Bayley, Jean-Pierre;
Dambrot, Cheryl;
van Asperen, Christi J.;
van den Ouweland, Ans M. W.;
Bakker, Bert;
van Beers, Erik H.;
Nederlof, Petra M.;
Vasen, Hans;
Hoogerbrugge, Nicoline;
Cornelisse, Cees J.;
Meijers-Heijboer, Hanne;
Devilee, Peter

Publication type:

Article

Immunological detection of polycystin-1 in human kidney.

Published in:

Histochemistry & Cell Biology, 2000, v. 113, n. 4, p. 303, doi. 10.1007/s004180000135

By:

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

Publication type:

Article

Identification of Regions Critical for the Integrity of the TSC1-TSC2-TBC1D7 Complex.

Published in:

PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0093940

By:

Santiago Lima, Arthur Jorge;
Hoogeveen-Westerveld, Marianne;
Nakashima, Akio;
Maat-Kievit, Anneke;
van den Ouweland, Ans;
Halley, Dicky;
Kikkawa, Ushio;
Nellist, Mark

Publication type:

Article

Fanconi anemia gene mutations are not involved in sporadic Wilms tumor.

Published in:

Pediatric Blood & Cancer, 2010, v. 55, n. 4, p. 742, doi. 10.1002/pbc.22588

By:

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

Publication type:

Article

Saethre–Chotzen syndrome: long‐term outcome of a syndrome‐specific management protocol.

Published in:

Developmental Medicine & Child Neurology, 2021, v. 63, n. 1, p. 104, doi. 10.1111/dmcn.14670

By:

Den Ottelander, Bianca K;
Van Veelen, Marie‐Lise C;
De Goederen, Robbin;
Van De Beeten, Stephanie DC;
Dremmen, Marjolein HG;
Loudon, Sjoukje E;
Versnel, Sarah L;
Van Den Ouweland, Ans MW;
Van Dooren, Marieke F;
Joosten, Koen FM;
Mathijssen, Irene MJ

Publication type:

Article

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

Published in:

Prenatal Diagnosis, 1995, v. 15, n. 12, p. 1155, doi. 10.1002/pd.1970151212

By:

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

Publication type:

Article

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

Published in:

Neuropathology, 2008, v. 28, n. 6, p. 577, doi. 10.1111/j.1440-1789.2008.00920.x

By:

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

Publication type:

Article

Further delineation of the GDF6 related multiple synostoses syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 225, doi. 10.1002/ajmg.a.38503

By:

Terhal, Paulien A.;
Verbeek, Nienke E.;
Knoers, Nine;
Nievelstein, Rutger J. A. J.;
van den Ouweland, Ans;
Sakkers, Ralph J.;
Speleman, Lucienne;
van Haaften, Gijs

Publication type:

Article

A novel mutation in FGFR2.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 123, doi. 10.1002/ajmg.a.36827

By:

Goos, Jacqueline A. C.;
van den Ouweland, Ans M. W.;
Swagemakers, Sigrid M. A.;
Verkerk, Annemieke J. M. H.;
Hoogeboom, A. Jeannette M.;
van Veelen, Marie‐Lise C.;
Mathijssen, Irene M. J.;
van der Spek, Peter J.

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1750, doi. 10.1002/ajmg.a.35422

By:

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

Publication type:

Article

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.

Published in:

Human Genetics, 2004, v. 115, n. 3, p. 200, doi. 10.1007/s00439-004-1151-5

By:

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

Publication type:

Article

Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12–q13.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 58, doi. 10.1007/s004399900227

By:

Takahashi, Meiko;
Rapley, Elizabeth;
Biggs, Patrick J.;
Lakhani, Sunil R;
Cooke, David;
Hansen, Juliana;
Blair, Edward;
Hofmann, B.;
Siebert, Reiner;
Turner, Gwen;
Evans, D. Gareth;
Schrander-Stumpel, C.;
Beemer, Frits A.;
van Vloten, Willem A.;
Breuning, Martijn H.;
van den Ouweland, Ans;
Halley, Dicky;
Delpech, Bertrand;
Cleveland, Mark;
Leigh, Irene

Publication type:

Article

Recurrent HOXB13 mutations in the Dutch population do not associate with increased breast cancer risk.

Published in:

Scientific Reports, 2016, p. 30026, doi. 10.1038/srep30026

By:

Liu, Jingjing;
Prager-van der Smissen, Wendy J. C.;
Schmidt, Marjanka K.;
Collée, J. Margriet;
Cornelissen, Sten;
Lamping, Roy;
Nieuwlaat, Anja;
Foekens, John A.;
Hooning, Maartje J.;
Verhoef, Senno;
van den Ouweland, Ans M. W.;
Hogervorst, Frans B. L.;
Martens, John W. M.;
Hollestelle, Antoinette

Publication type:

Article

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 6, p. 1053, doi. 10.1093/hmg/7.6.1053

By:

van Slegtenhorst, Marjon;
Nellist, Mark;
Nagelkerken, Bas;
Cheadle, Jeremy;
Snell, Russell;
van den Ouweland, Ans;
Reuser, Arnold;
Sampson, Julian;
Halley, Dicky;
van der Sluijs, Peter

Publication type:

Article

Positional Cloning of a Gene Involved in Hereditary Multiple Exostoses.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1547, doi. 10.1093/hmg/5.10.1547

By:

Wuyts, Wim;
Van Hul, Wim;
Wauters, Jan;
Nemtsova, Marina;
Reyniers, Edwin;
Van Hul, Els;
De Boulle, Kristel;
de Vries, Bert B. A.;
Hendrickx, Jan;
Herrygers, Ilde;
Bossuyt, Paul;
Balemans, Wendy;
Fransen, Erik;
Vits, Lieve;
Coucke, Paul;
Nowak, Norma J.;
Shows, Thomas B.;
Mallet, Laurence;
van den Ouweland, Ans M. W.;
McGaughran, Julie

Publication type:

Article

Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 10, p. 1823

By:

Ouweland, Ans M.W. van den;
Deelen, Wout H.;
Kunst, Catherine B.;
Uzielli, Maria-Luisa Giovannucci;
Nelson, David L.;
Warren, Stephen T.;
Oostra, Ben A.;
Halley, Dicky J.J.

Publication type:

Article

Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 167

By:

Wu, Yuan-Qing;
Heutink, Peter;
de Vries, Bert B. A.;
Sandkuijl, Lodewijk A.;
van den Ouweland, Ans M. W.;
Niermeijer, Martinus F.;
Galjaard, Hans;
Reyniers, Edwin;
Willems, Patrick J.;
J. J.Halley, Dicky

Publication type:

Article

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

Published in:

2017

By:

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

Publication type:

journal article

TSC2 missensemutations inhibit tuberin phosphorylation and prevent formationof the tuberin–hamartin complex.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 25, p. 2889, doi. 10.1093/hmg/10.25.2889

By:

Nellist, Mark;
Verhaaf, Brenda;
Goedbloed, MiriamA.;
Reuser, ArnoldJ.J.;
van den Ouweland, Ans M.W.;
Halley, DickyJ.J.

Publication type:

Article

Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.

Published in:

Cancers, 2019, v. 11, n. 8, p. 1114, doi. 10.3390/cancers11081114

By:

Chau, Cindy;
van Doorn, Remco;
van Poppelen, Natasha M.;
van der Stoep, Nienke;
Mensenkamp, Arjen R.;
Sijmons, Rolf H.;
van Paassen, Barbara W.;
van den Ouweland, Ans M. W.;
Naus, Nicole C.;
van der Hout, Annemieke H.;
Potjer, Thomas P.;
Bleeker, Fonnet E.;
Wevers, Marijke R.;
van Hest, Liselotte P.;
Jongmans, Marjolijn C. J.;
Marinkovic, Marina;
Bleeker, Jaco C.;
Jager, Martine J.;
Luyten, Gregorius P. M.;
Nielsen, Maartje

Publication type:

Article

Clinical utility gene card for: Tuberous sclerosis complex (TSC1, TSC2).

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 2, p. 1, doi. 10.1038/ejhg.2013.129

By:

Mayer, Karin;
Fonatsch, Christa;
Wimmer, Katharina;
van den Ouweland, Ans MW;
Maat-Kievit, Anneke JA

Publication type:

Article

Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 2, p. 236, doi. 10.1038/ejhg.2011.152

By:

van Lier, Margot G F;
Korsse, Susanne E;
Mathus-Vliegen, Elisabeth M H;
Kuipers, Ernst J;
van den Ouweland, Ans M W;
Vanheusden, Kathleen;
van Leerdam, Monique E;
Wagner, Anja

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1009, doi. 10.1038/ejhg.2011.60

By:

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.

Publication type:

Article

Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 2, p. 157, doi. 10.1038/ejhg.2010.156

By:

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, Dicky J. J.

Publication type:

Article

Inheritance of mutations in the V<sub>2</sub> receptor gene in thirteen families with nephrogenic diabetes insipidus.

Published in:

Kidney International, 1994, v. 46, n. 1, p. 170, doi. 10.1038/ki.1994.256

By:

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

Publication type:

Article

Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells.

Published in:

Genes, Chromosomes & Cancer, 2016, v. 55, n. 4, p. 350, doi. 10.1002/gcc.22338

By:

Hulsebos, Theo J.M.;
Kenter, Susan;
Baas, Frank;
Nannenberg, Eline A.;
Bleeker, Fonnet E.;
van Minkelen, Rick;
van den Ouweland, Ans M.W.;
Wesseling, Pieter;
Flucke, Uta

Publication type:

Article

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

Published in:

Prenatal Diagnosis, 1998, v. 18, n. 7, p. 659, doi. 10.1002/(SICI)1097-0223(199807)18:7<659::AID-PD317>3.0.CO;2-K

By:

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

Publication type:

Article

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

Published in:

Prenatal Diagnosis, 1998, v. 18, n. 1, p. 35, doi. 10.1002/(SICI)1097-0223(199801)18:1<35::AID-PD214>3.0.CO;2-L

By:

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

Publication type:

Article

The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.

Published in:

BMC Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12863-016-0346-9

By:

Farkas, Katalin;
Deák, Barbara Kocsis;
Sánchez, Laura Cubells;
Martínez, Ana Mercedes Victoria;
Corell, Juan José Vilata;
Botella, Alfredo Montoro;
Benito, Goitzane Marcaida;
López, Raquel Rodríguez;
Vanecek, Tomas;
Kazakov, Dmitry V.;
Kromosoeto, Joan N. R.;
van den Ouweland, Ans M. W.;
Varga, János;
Széll, Márta;
Nagy, Nikoletta

Publication type:

Article

Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val).

Published in:

Breast Cancer Research & Treatment, 2018, v. 172, n. 2, p. 497, doi. 10.1007/s10549-018-4903-y

By:

Tudini, Emma;
Moghadasi, Setareh;
Parsons, Michael T.;
van der Kolk, Lizet;
van den Ouweland, Ans M. W.;
Niederacher, Dieter;
Feliubadaló, Lídia;
Wappenschmidt, Barbara;
Spurdle, Amanda B.;
Lazaro, Conxi

Publication type:

Article

MDM2 SNP309 accelerates familial breast carcinogenesis independently of estrogen signaling.

Published in:

Breast Cancer Research & Treatment, 2007, v. 104, n. 2, p. 153, doi. 10.1007/s10549-006-9407-5

By:

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

Publication type:

Article

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

Published in:

Breast Cancer Research & Treatment, 2006, v. 95, n. 2, p. 117, doi. 10.1007/s10549-005-9054-2

By:

Madeleine Tilanus-Linthorst;
Karina Bartels;
Celina Alves;
Bonnie Bakri;
Ellen Crepin;
Ans van den Ouweland;
Jan Klijn;
Hanne Meijers-Heijboer;
Cecile Brekelmans

Publication type:

Article

Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex.

Published in:

PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0157396

By:

Mühlebner, Angelika;
van Scheppingen, Jackelien;
Hulshof, Hanna M.;
Scholl, Theresa;
Iyer, Anand M.;
Anink, Jasper J.;
van den Ouweland, Ans M. W.;
Nellist, Mark D.;
Jansen, Floor E.;
Spliet, Wim G. M.;
Krsek, Pavel;
Benova, Barbora;
Zamecnik, Josef;
Crino, Peter B.;
Prayer, Daniela;
Czech, Thomas;
Wöhrer, Adelheid;
Rahimi, Jasmin;
Höftberger, Romana;
Hainfellner, Johannes A.

Publication type:

Article