Combined cardiological and neurological abnormalities due to filamin A gene mutation
de Wit, Marie Claire Y, de Coo, Irenaeus F. M, Lequin, Maarten H, Halley, Dicky J. J, Roos-Hesselink, Jolien W, Mancini, Grazia M. S
Published in Clinical research in cardiology (01.01.2011)
Published in Clinical research in cardiology (01.01.2011)
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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
Published in European journal of human genetics : EJHG (01.09.2011)
Published in European journal of human genetics : EJHG (01.09.2011)
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p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
KROOS, Marian A, MULLAART, Reinier A, REUSER, Arnold J. J, VAN VLIET, Laura, POMPONIO, Robert J, AMARTINO, Hernan, KOLODNY, Edwin H, PASTORES, Gregory M, WEVERS, Ron A, VAN DER PLOEG, Ans T, HALLEY, Dicky J. J
Published in European journal of human genetics : EJHG (01.08.2008)
Published in European journal of human genetics : EJHG (01.08.2008)
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Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation
Jansen, An C., Sancak, Ozgur, D'Agostino, Maria Daniela, Badhwar, Amanpreet, Roberts, Penelope, Gobbi, Gabriella, Wilkinson, Ralph, Melanson, Denis, Tampieri, Donatella, Koenekoop, Robert, Gans, Mark, Maat-Kievit, Anneke, Goedbloed, Miriam, van den Ouweland, Ans M. W., Nellist, Mark, Pandolfo, Massimo, McQueen, Mary, Sims, Katherine, Thiele, Elisabeth A., Dubeau, François, Andermann, Frederick, Kwiatkowski, David J., Halley, Dicky J. J., Andermann, Eva
Published in Annals of neurology (01.11.2006)
Published in Annals of neurology (01.11.2006)
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A Novel GPR56 Mutation Causes Bilateral Frontoparietal Polymicrogyria
Luo, Rong, PhD, Yang, Hye Min, BS, Jin, Zhaohui, MD, Halley, Dicky J.J., MD, Chang, Bernard S., MD, MacPherson, Lesley, MD, Brueton, Louise, MD, Piao, Xianhua, MD PhD
Published in Pediatric neurology (01.07.2011)
Published in Pediatric neurology (01.07.2011)
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The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature
Meuwissen, Marije E. C., Halley, Dicky J. J., Smit, Liesbeth S., Lequin, Maarten H., Cobben, Jan M., de Coo, René, van Harssel, Jeske, Sallevelt, Suzanne, Woldringh, Gwendolyn, van der Knaap, Marjo S., de Vries, Linda S., Mancini, Grazia M. S.
Published in Genetics in medicine (01.11.2015)
Published in Genetics in medicine (01.11.2015)
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Novel no-stop FLNA mutation causes multi-organ involvement in males
Oegema, Renske, Hulst, Jessie M., Theuns-Valks, Sabine D.M., van Unen, Leontine M.A., Schot, Rachel, Mancini, Grazia M.S., Schipper, Marguerite E.I., de Wit, Marie C.Y., Sibbles, Barbara J., de Coo, Irenaeus F.M., Nanninga, Veerle, Hofstra, Robert M.W., Halley, Dicky J.J., Brooks, Alice S.
Published in American journal of medical genetics. Part A (01.09.2013)
Published in American journal of medical genetics. Part A (01.09.2013)
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Long‐term follow‐up of type 1 lissencephaly: survival is related to neuroimaging abnormalities
DE WIT, MARIE‐CLAIRE Y, DE RIJK‐VAN ANDEL, JOJANNEKE, HALLEY, DICKY J, PODDIGHE, PINO J, ARTS, WILLEM FRANS M, DE COO, IRENAEUS FM, MANCINI, GRAZIA MS
Published in Developmental medicine and child neurology (01.05.2011)
Published in Developmental medicine and child neurology (01.05.2011)
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Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse
Aalberts, Jan J.J., van Tintelen, J. Peter, Oomen, Toon, Bergman, Jorieke E.H., Halley, Dicky J.J., Jongbloed, Jan D.H., Suurmeijer, Albert J.H., van den Berg, Maarten P.
Published in American journal of medical genetics. Part A (01.01.2014)
Published in American journal of medical genetics. Part A (01.01.2014)
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Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype-phenotype correlations
Valstar, Marlies J., Neijs, Sanne, Bruggenwirth, Hennie T., Olmer, Renske, Ruijter, George J. G., Wevers, Ron A., van Diggelen, Otto P., Poorthuis, Ben J., Halley, Dicky J., Wijburg, Frits A.
Published in Annals of neurology (01.12.2010)
Published in Annals of neurology (01.12.2010)
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The CLCA gene locus as a modulator of the gastrointestinal basic defect in cystic fibrosis
RITZKA, Margit, STANKE, Frauke, JANSEN, Silke, GRUBER, Achim D, PUSCH, Larissa, WOELFL, Stefan, VEEZE, Henk J, HALLEY, Dicky J, TÜMMLER, Burkhard
Published in Human genetics (01.11.2004)
Published in Human genetics (01.11.2004)
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A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting
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., Hoogerbrugge, Nicoline, Verhoef, Senno, Halley, Dicky J.J., Vos, Yvonne J., Hogervorst, Frans, Ligtenberg, Marjolijn, Hofstra, Robert M.W.
Published in Human mutation (01.07.2006)
Published in Human mutation (01.07.2006)
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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
Published in European journal of human genetics : EJHG (01.01.2005)
Published in European journal of human genetics : EJHG (01.01.2005)
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Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype
Valstar, Marlies J, Bruggenwirth, Hennie T, Olmer, Renske, Wevers, Ron A, Verheijen, Frans W, Poorthuis, Ben J, Halley, Dicky J, Wijburg, Frits A
Published in Journal of inherited metabolic disease (01.12.2010)
Published in Journal of inherited metabolic disease (01.12.2010)
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Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects
Vrijenhoek, Terry, Kraaijeveld, Ken, Elferink, Martin, de Ligt, Joep, Kranendonk, Elcke, Santen, Gijs, Nijman, Isaac J, Butler, Derek, Claes, Godelieve, Costessi, Adalberto, Dorlijn, Wim, van Eyndhoven, Winfried, Halley, Dicky J J, van den Hout, Mirjam C G N, van Hove, Steven, Johansson, Lennart F, Jongbloed, Jan D H, Kamps, Rick, Kockx, Christel E M, de Koning, Bart, Kriek, Marjolein, Lekanne Dit Deprez, Ronald, Lunstroo, Hans, Mannens, Marcel, Mook, Olaf R, Nelen, Marcel, Ploem, Corrette, Rijnen, Marco, Saris, Jasper J, Sinke, Richard, Sistermans, Erik, van Slegtenhorst, Marjon, Sleutels, Frank, van der Stoep, Nienke, van Tienhoven, Marianne, Vermaat, Martijn, Vogel, Maartje, Waisfisz, Quinten, Marjan Weiss, Janneke, van den Wijngaard, Arthur, van Workum, Wilbert, Ijntema, Helger, van der Zwaag, Bert, van IJcken, Wilfred F J, den Dunnen, Johan, Veltman, Joris A, Hennekam, Raoul, Cuppen, Edwin
Published in European journal of human genetics : EJHG (01.09.2015)
Published in European journal of human genetics : EJHG (01.09.2015)
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COL4A2 mutation associated with familial porencephaly and small-vessel disease
VERBEEK, Elly, MEUWISSEN, Marije E. C, HALLEY, Dicky J, DE COO, René I. F, DEN HOLLANDER, Jan C, OEGEMA, Renske, GOULD, Douglas B, MANCINI, Grazia M. S, VERHEIJEN, Frans W, GOVAERT, Paul P, LICHT, Daniel J, KUO, Debbie S, POULTON, Cathryn J, SCHOT, Rachel, LEQUIN, Maarten H, DUDINK, Jeroen
Published in European journal of human genetics : EJHG (01.08.2012)
Published in European journal of human genetics : EJHG (01.08.2012)
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Evidence for Linkage between Juvenile Myoclonic Epilepsy–Related Idiopathic Generalized Epilepsy and 6p11‐12 in Dutch Families
Pinto, Dalila, De Haan, Gerrit‐Jan, Janssen, Guus A. M. A. J., Boezeman, Eduard H., Van Erp, M. Gerard, Westland, Birgit, Witte, Jorine, Bader, Adri, Halley, Dicky J. J., Kasteleijn‐Nolst Trenité, Dorothée G. A., Lindhout, Dick, Koeleman, Bobby P. C.
Published in Epilepsia (Copenhagen) (01.03.2004)
Published in Epilepsia (Copenhagen) (01.03.2004)
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Development and Function of Immune Cells in an Adolescent Patient With a Deficiency in the Interleukin-10 Receptor
Veenbergen, Sharon, van Leeuwen, Marieke A, Driessen, Gertjan J, Kersseboom, Rogier, de Ruiter, Lilian F, Raatgeep, Rolien H C, Lindenbergh-Kortleve, Dicky J, Simons-Oosterhuis, Ytje, Biermann, Katharina, Halley, Dicky J J, de Ridder, Lissy, Escher, Johanna C, Samsom, Janneke N
Published in Journal of pediatric gastroenterology and nutrition (01.07.2017)
Published in Journal of pediatric gastroenterology and nutrition (01.07.2017)
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Univerricht‐Lundborg Disease: Underdiagnosed in the Netherlands
De Haan, Gerrit‐Jan, Halley, Dicky J.J., Doelman, Jan C., Geesink, Huibert H., Augustijn, Paul B., Jager‐Jongkind, Anke D., Majoie, Marianne, Bader, Adri J., Doeschate, Lian A.W.M. Leliefeld‐ten, Deelen, Wout H., Bertram, Ed, Lehesjoki, Anna E., Lindhout, Dick
Published in Epilepsia (Copenhagen) (01.09.2004)
Published in Epilepsia (Copenhagen) (01.09.2004)
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Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays
Labrijn-Marks, Ineke, Somers-Bolman, Galhana M, In 't Groen, Stijn L M, Hoogeveen-Westerveld, Marianne, Kroos, Marian A, Ala-Mello, Sirpa, Amaral, Olga, Miranda, Clara Sa, Mavridou, Irene, Michelakakis, Helen, Naess, Karin, Verheijen, Frans W, Hoefsloot, Lies H, Dijkhuizen, Trijnie, Benjamins, Marloes, van den Hout, Hannerieke J M, van der Ploeg, Ans T, Pijnappel, W W M Pim, Saris, Jasper J, Halley, Dicky J
Published in European journal of human genetics : EJHG (01.06.2019)
Published in European journal of human genetics : EJHG (01.06.2019)
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