Search Results - "Nillesen, Willy"

Novel genetic causes for cerebral visual impairment by 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

“…Cerebral visual impairment (CVI) is a major cause of low vision in children due to impairment in projection and/or interpretation of the visual input in the…”
Get full text

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype by 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

“…RAS signaling plays a key role in controlling appropriate cell responses to extracellular stimuli and participates in early and late developmental processes…”
Get full text

Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency by Driessen, Gertjan J., MD, PhD, IJspeert, Hanna, PhD, Wentink, Marjolein, MD, Yntema, Helger G., MD, PhD, van Hagen, P. Martin, MD, PhD, van Strien, Arthur, MSc, Bucciol, Giorgia, MD, Cogulu, Ozgur, MD, Trip, Margreet, MD, Nillesen, Willy, MD, PhD, Peeters, Els A., MD, PhD, Pico-Knijnenburg, Ingrid, BSc, Barendregt, Barbara H., BSc, Rizzi, Marta, MD, PhD, van Dongen, Jacques J., MD, PhD, Kutukculer, Necil, MD, PhD, van der Burg, Mirjam, PhD

“…To the Editor: Autosomal-dominant germline mutations in PTEN are associated with phosphate and tensin homologue deleted on chromosome 10 (PTEN) hamartoma tumor…”
Get full text

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features by Tucci, Valter, Kleefstra, Tjitske, Hardy, Andrea, Heise, Ines, Maggi, Silvia, Willemsen, Marjolein H, Hilton, Helen, Esapa, Chris, Simon, Michelle, Buenavista, Maria-Teresa, McGuffin, Liam J, Vizor, Lucie, Dodero, Luca, Tsaftaris, Sotirios, Romero, Rosario, Nillesen, Willy N, Vissers, Lisenka E L M, Kempers, Marlies J, Vulto-van Silfhout, Anneke T, Iqbal, Zafar, Orlando, Marta, Maccione, Alessandro, Lassi, Glenda, Farisello, Pasqualina, Contestabile, Andrea, Tinarelli, Federico, Nieus, Thierry, Raimondi, Andrea, Greco, Barbara, Cantatore, Daniela, Gasparini, Laura, Berdondini, Luca, Bifone, Angelo, Gozzi, Alessandro, Wells, Sara, Nolan, Patrick M

“…The recent identification of multiple dominant mutations in the gene encoding β-catenin in both humans and mice has enabled exploration of the molecular and…”
Get full text

The spectrum of DNMT3A variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies by 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.

“…De novo, germline variants in DNMT3A cause Tatton–Brown–Rahman syndrome (TBRS). This condition is characterized by overgrowth, distinctive facial appearance,…”
Get full text

Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 ( EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome by 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

“…A clinically recognizable 9q subtelomeric deletion syndrome has recently been established. Common features seen in these patients are severe mental…”
Get full text

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings by 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

“…In recent studies on prenatal testing for Noonan syndrome (NS) in fetuses with an increased nuchal translucency (NT) and a normal karyotype, mutations have…”
Get full text

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability by 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

“…MicroRNAs (miRNAs) are non-coding gene transcripts involved in post-transcriptional regulation of genes. Recent studies identified miRNAs as important…”
Get more information

Genomic microarrays in mental retardation: A practical workflow for diagnostic applications by 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

“…Microarray-based copy number analysis has found its way into routine clinical practice, predominantly for the diagnosis of patients with unexplained mental…”
Get full text

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome by 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

“…Noonan syndrome (NS) is a developmental disorder characterized by short stature, facial dysmorphisms and congenital heart defects. To date, all mutations known…”
Get full text

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation by 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

“…Noonan syndrome (NS) is characterized by short stature, facial dysmorphisms and congenital heart defects. PTPN11 mutations are the most common cause of NS…”
Get full text

Novel genetic causes for cerebral visual impairment by 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

Get full text

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome by 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

“…AUTS2 syndrome is characterized by low birth weight, feeding difficulties, intellectual disability, microcephaly and mild dysmorphic features. All affected…”
Get full text

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila by 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

“…GATA zinc finger domain containing 2B (GATAD2B) encodes a subunit of the MeCP1-Mi-2/nucleosome remodelling and deacetylase complex involved in chromatin…”
Get more information

Structural variation in Xq28 : MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy by 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

“…Duplications in Xq28 involving MECP2 have been described in patients with severe mental retardation, infantile hypotonia, progressive spasticity, and recurrent…”
Get full text

Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects by 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

“…Noonan syndrome is a relatively common developmental disorder that is characterized by reduced growth, wide-set eyes and congenital heart defects. Noonan…”
Get full text

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms by 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

“…Krüppel-type zinc finger genes (ZNF) constitute a large yet relatively poorly characterized gene family. ZNF genes encode proteins that recognize specific DNA…”
Get full text

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway by 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

“…Various syndromes of the Ras-mitogen-activated protein kinase (MAPK) pathway, including the Noonan, Cardio-Facio-Cutaneous, LEOPARD and Costello syndromes,…”
Get full text

Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration by 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

“…Age-related macular degeneration (AMD) and cuticular drusen (CD), a clinical subtype of AMD, have been linked to genetic variants in the complement factor H…”
Get full text

Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma by 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

“…Noonan Syndrome (NS) is an autosomal dominant condition characterized by short stature, facial dysmorphisms, and congenital heart defects, and is caused by…”
Get full text