Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype
Martinelli, Simone, De Luca, Alessandro, Stellacci, Emilia, Rossi, Cesare, Checquolo, Saula, Lepri, Francesca, Caputo, Viviana, Silvano, Marianna, Buscherini, Francesco, Consoli, Federica, Ferrara, Grazia, Digilio, Maria C., Cavaliere, Maria L., van Hagen, Johanna M., Zampino, Giuseppe, van der Burgt, Ineke, Ferrero, Giovanni B., Mazzanti, Laura, Screpanti, Isabella, Yntema, Helger G., Nillesen, Willy M., Savarirayan, Ravi, Zenker, Martin, Dallapiccola, Bruno, Gelb, Bruce D., Tartaglia, Marco
Published in American journal of human genetics (13.08.2010)
Published in American journal of human genetics (13.08.2010)
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Journal Article
Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 ( EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome
Kleefstra, Tjitske, Brunner, Han G., Amiel, Jeanne, Oudakker, Astrid R., Nillesen, Willy M., Magee, Alex, Geneviève, David, Cormier-Daire, Valérie, van Esch, Hilde, Fryns, Jean-Pierre, Hamel, Ben C.J., Sistermans, Erik A., de Vries, Bert B.A., van Bokhoven, Hans
Published in American journal of human genetics (01.08.2006)
Published in American journal of human genetics (01.08.2006)
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Journal Article
Genomic microarrays in mental retardation: A practical workflow for diagnostic applications
Koolen, David A, Pfundt, Rolph, de Leeuw, Nicole, Hehir-Kwa, Jayne Y, Nillesen, Willy M, Neefs, Ineke, Scheltinga, Ine, Sistermans, Erik, Smeets, Dominique, Brunner, Han G, van Kessel, Ad Geurts, Veltman, Joris A, de Vries, Bert B.A
Published in Human mutation (01.03.2009)
Published in Human mutation (01.03.2009)
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Novel genetic causes for cerebral visual impairment
Bosch, Daniëlle GM, Boonstra, F Nienke, de Leeuw, Nicole, Pfundt, Rolph, Nillesen, Willy M, de Ligt, Joep, Gilissen, Christian, Jhangiani, Shalini, Lupski, James R, Cremers, Frans PM, de Vries, Bert BA
Published in European journal of human genetics : EJHG (09.09.2015)
Published in European journal of human genetics : EJHG (09.09.2015)
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Journal Article
Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects
Runtuwene, Vincent, van Eekelen, Mark, Overvoorde, John, Rehmann, Holger, Yntema, Helger G, Nillesen, Willy M, van Haeringen, Arie, van der Burgt, Ineke, Burgering, Boudewijn, den Hertog, Jeroen
Published in Disease models & mechanisms (01.05.2011)
Published in Disease models & mechanisms (01.05.2011)
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Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway
KLEEFSTRA, Tjitske, WORTMANN, Saskia B, LAMMENS, Martin, SMEITINK, Jan Am, VAN DER BURGT, Ineke, MORAVA, Eva, RODENBURG, Richard Jt, BONGERS, Ernie Mhf, HADZSIEV, Kinga, NOORDAM, Cees, VAN DEN HEUVEL, Lambert P, NILLESEN, Willy M, HOLLODY, Katalin, GILLESSEN-KAESBACH, Gabrielle
Published in European journal of human genetics : EJHG (01.02.2011)
Published in European journal of human genetics : EJHG (01.02.2011)
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Journal Article
Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma
Jongmans, Marjolijn C. J., Hoogerbrugge, Peter M., Hilkens, Linda, Flucke, Uta, van der Burgt, Ineke, Noordam, Kees, Ruiterkamp-Versteeg, Martina, Yntema, Helger G., Nillesen, Willy M., Ligtenberg, Marjolijn J. L., van Kessel, Ad Geurts, Kuiper, Roland P., Hoogerbrugge, Nicoline
Published in Genes chromosomes & cancer (01.07.2010)
Published in Genes chromosomes & cancer (01.07.2010)
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Journal Article
Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature
Jongmans, Marjolijn, Sistermans, Erik A., Rikken, Alwin, Nillesen, Willy M., Tamminga, Rienk, Patton, Michael, Maier, Esther M., Tartaglia, Marco, Noordam, Kees, van der Burgt, Ineke
Published in American journal of medical genetics. Part A (15.04.2005)
Published in American journal of medical genetics. Part A (15.04.2005)
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Journal Article
Novel genetic causes for cerebral visual impairment
Bosch, Daniëlle G M, Boonstra, F Nienke, de Leeuw, Nicole, Pfundt, Rolph, Nillesen, Willy M, de Ligt, Joep, Gilissen, Christian, Jhangiani, Shalini, Lupski, James R, Cremers, Frans P M, de Vries, Bert B A
Published in European journal of human genetics : EJHG (01.05.2016)
Published in European journal of human genetics : EJHG (01.05.2016)
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Journal Article
The spectrum of DNMT3A variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies
Shen, Wei, Heeley, Jennifer M., Carlston, Colleen M., Acuna‐Hidalgo, Rocio, Nillesen, Willy M., Dent, Karin M., Douglas, Ganka V., Levine, Kara L., Bayrak‐Toydemir, Pinar, Marcelis, Carlo L., Shinawi, Marwan, Carey, John C.
Published in American journal of medical genetics. Part A (01.11.2017)
Published in American journal of medical genetics. Part A (01.11.2017)
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Journal Article
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings
Croonen, Ellen A, Nillesen, Willy M, Stuurman, Kyra E, Oudesluijs, Gretel, van de Laar, Ingrid M B M, Martens, Liesbeth, Ockeloen, Charlotte, Mathijssen, Inge B, Schepens, Marga, Ruiterkamp-Versteeg, Martina, Scheffer, Hans, Faas, Brigitte H W, van der Burgt, Ineke, Yntema, Helger G
Published in European journal of human genetics : EJHG (01.09.2013)
Published in European journal of human genetics : EJHG (01.09.2013)
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A cytogenetic study in a large population of intellectually disabled Indonesians
Mundhofir, Farmaditya E P, Winarni, Tri Indah, van Bon, Bregje W, Aminah, Siti, Nillesen, Willy M, Merkx, Gerard, Smeets, Dominique, Hamel, Ben C J, Faradz, Sultana M H, Yntema, Helger G
Published in Genetic testing and molecular biomarkers (01.05.2012)
Published in Genetic testing and molecular biomarkers (01.05.2012)
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Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability
Willemsen, Marjolein H, Vallès, Astrid, Kirkels, Laurens A M H, Mastebroek, Mathilde, Olde Loohuis, Nikkie, Kos, Aron, Wissink-Lindhout, Willemijn M, de Brouwer, Arjan P M, Nillesen, Willy M, Pfundt, Rolph, Holder-Espinasse, Muriel, Vallée, Louis, Andrieux, Joris, Coppens-Hofman, Marjolein C, Rensen, Hanneke, Hamel, Ben C J, van Bokhoven, Hans, Aschrafi, Armaz, Kleefstra, Tjitske
Published in Journal of medical genetics (01.12.2011)
Published in Journal of medical genetics (01.12.2011)
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Journal Article
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome
Vissers, Lisenka E L M, Bonetti, Monica, Paardekooper Overman, Jeroen, Nillesen, Willy M, Frints, Suzanna G M, de Ligt, Joep, Zampino, Giuseppe, Justino, Ana, Machado, José C, Schepens, Marga, Brunner, Han G, Veltman, Joris A, Scheffer, Hans, Gros, Piet, Costa, José L, Tartaglia, Marco, van der Burgt, Ineke, Yntema, Helger G, den Hertog, Jeroen
Published in European journal of human genetics : EJHG (01.03.2015)
Published in European journal of human genetics : EJHG (01.03.2015)
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Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation
JONGMANS, Marjolijn C. J, VAN DER BURGT, Ineke, KIEMENEY, Lambertus A. L. M, HOOGERBRUGGE, Nicoline, HOOGERBRUGGE, Peter M, NOORDAM, Kees, YNTEMA, Helger G, NILLESEN, Willy M, KUIPER, Roland P, LIGTENBERG, Marjolijn J. L, VAN KESSEL, Ad Geurts, VAN KRIEKEN, J. Han J. M
Published in European journal of human genetics : EJHG (01.08.2011)
Published in European journal of human genetics : EJHG (01.08.2011)
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Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome
Beunders, Gea, de Munnik, Sonja A, Van der Aa, Nathalie, Ceulemans, Berten, Voorhoeve, Els, Groffen, Alexander J, Nillesen, Willy M, Meijers-Heijboer, Elizabeth J, Frank Kooy, R, Yntema, Helger G, Sistermans, Erik A
Published in European journal of human genetics : EJHG (01.06.2015)
Published in European journal of human genetics : EJHG (01.06.2015)
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GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila
Willemsen, Marjolein H, Nijhof, Bonnie, Fenckova, Michaela, Nillesen, Willy M, Bongers, Ernie M H F, Castells-Nobau, Anna, Asztalos, Lenke, Viragh, Erika, van Bon, Bregje W M, Tezel, Emre, Veltman, Joris A, Brunner, Han G, de Vries, Bert B A, de Ligt, Joep, Yntema, Helger G, van Bokhoven, Hans, Isidor, Bertrand, Le Caignec, Cédric, Lorino, Elsa, Asztalos, Zoltan, Koolen, David A, Vissers, Lisenka E L M, Schenck, Annette, Kleefstra, Tjitske
Published in Journal of medical genetics (01.08.2013)
Published in Journal of medical genetics (01.08.2013)
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Structural variation in Xq28 : MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
LUGTENBERG, Dorien, KLEEFSTRA, Tjitske, GOIZET, Cyril, LACOMBE, Didier, PEDESPAN, Jean-Michel, ECHENNE, Bernard, TARIVERDIAN, Gholamali, O'ROURKE, Declan, KING, Mary D, GREEN, Andrew, VAN KOGELENBERG, Margriet, VAN ESCH, Hilde, OUDAKKER, Astrid R, GECZ, Jozef, HAMEL, Ben C. J, VAN BOKHOVEN, Hans, DE BROUWER, Arjan P. M, NILLESEN, Willy M, YNTEMA, Helger G, TZSCHACH, Andreas, RAYNAUD, Martine, RATING, Dietz, JOURNEL, Hubert, CHELLY, Jamel
Published in European journal of human genetics : EJHG (01.04.2009)
Published in European journal of human genetics : EJHG (01.04.2009)
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Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms
Stevens, Servi J C, van Essen, Anthonie J, van Ravenswaaij, Conny M A, Elias, Abdallah F, Haven, Jaclyn A, Lelieveld, Stefan H, Pfundt, Rolph, Nillesen, Willy M, Yntema, Helger G, van Roozendaal, Kees, Stegmann, Alexander P, Gilissen, Christian, Brunner, Han G
Published in Genome medicine (13.12.2016)
Published in Genome medicine (13.12.2016)
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Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration
Duvvari, Maheswara R, Saksens, Nicole T M, van de Ven, Johannes P H, de Jong-Hesse, Yvonne, Schick, Tina, Nillesen, Willy M, Fauser, Sascha, Hoefsloot, Lies H, Hoyng, Carel B, de Jong, Eiko K, den Hollander, Anneke I
Published in Molecular vision (15.03.2015)
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Published in Molecular vision (15.03.2015)
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