Search Results - "Hendriks, Yvonne M.C"

Decrease in Mortality in Lynch Syndrome Families Because of Surveillance by de Jong, Andrea E., Hendriks, Yvonne M.C., Kleibeuker, Jan H., de Boer, Sybrand Y., Cats, Annemieke, Griffioen, Gerrit, Nagengast, Fokko M., Nelis, Frits G., Rookus, Matti A., Vasen, Hans F.A.

“…Background & Aims: Lynch syndrome family members have a high risk of developing colorectal (CRC), endometrial (EC), and other cancers. A large-scale…”
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Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance by Hendriks, Yvonne M.C., Wagner, Anja, Morreau, Hans, Menko, Fred, Stormorken, Astrid, Quehenberger, Franz, Sandkuijl, Lodewijk, Møller, Pal, Genuardi, Maurizio, van Houwelingen, Hans, Tops, Carli, van Puijenbroek, Marjo, Verkuijlen, Paul, Kenter, Gemma, van Mil, Anneke, Meijers-Heijboer, Hanne, Tan, Gita B., Breuning, Martijn H., Fodde, Riccardo, Winjen, Jull Th, Bröcker-Vriends, Annette H.J.T., Vasen, Hans

“…Background & Aims: Hereditary nonpolyposis colorectal carcinoma (HNPCC) is caused by a mutated mismatch repair (MMR) gene. The aim of our study was to…”
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Diagnostic Approach and Management of Lynch Syndrome (Hereditary Nonpolyposis Colorectal Carcinoma): A Guide for Clinicians by Hendriks, Yvonne M.C, de Jong, Andrea E, Morreau, Hans, Tops, Carli M.J, Vasen, Hans F, Wijnen, Juul Th, Breuning, Martijn H, Brocker-Vriends, Annette H.J.T

“…The patient with a family history for colorectal carcinoma constitutes a complicated diagnostic challenge involving many clinicians. The diagnostic workup of…”
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Heterozygous Mutations in PMS2 Cause Hereditary Nonpolyposis Colorectal Carcinoma (Lynch Syndrome) by Hendriks, Yvonne M.C., Jagmohan–Changur, Shantie, van der Klift, Heleen M., Morreau, Hans, van Puijenbroek, Marjo, Tops, Carli, van Os, Theo, Wagner, Anja, Ausems, Margreet G.F.M., Gomez, Encarna, Breuning, Martijn H., Bröcker–Vriends, Annette H.J.T., Vasen, Hans F.A., Wijnen, Juul Th

“…Background #x0026; Aims: The role of the mismatch repair gene PMS2 in hereditary nonpolyposis colorectal carcinoma (HNPCC) is not fully clarified. To date,…”
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GPSM2 and Chudley-McCullough Syndrome: A Dutch Founder Variant Brought to North America by Almomani, Rowida, Sun, Yu, Aten, Emmelien, Hilhorst-Hofstee, Yvonne, Peeters-Scholte, Cacha M.P.C.D., van Haeringen, Arie, Hendriks, Yvonne M.C., den Dunnen, Johan T., Breuning, Martijn H., Kriek, Marjolein, Santen, Gijs W.E.

“…Chudley–McCullough syndrome (CMS) is characterized by profound sensorineural hearing loss and brain anomalies. Variants in GPSM2 have recently been reported as…”
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Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway by Delanne, Julian, Lecat, Magaly, Blackburn, Patrick R., Klee, Eric W., Stumpel, Constance T.R.M., Stegmann, Sander, Stevens, Servi J.C., Nava, Caroline, Heron, Delphine, Keren, Boris, Mahida, Sonal, Naidu, Sakkubai, Babovic-Vuksanovic, Dusica, Herkert, Johanna C., Torring, Pernille M., Kibæk, Maria, De Bie, Isabelle, Pfundt, Rolph, Hendriks, Yvonne M.C., Ousager, Lilian Bomme, Bend, Renee, Warren, Hannah, Skinner, Steven A., Lyons, Michael J., Pöe, Charlotte, Chevarin, Martin, Jouan, Thibaud, Garde, Aurore, Thomas, Quentin, Kuentz, Paul, Tisserant, Emilie, Duffourd, Yannis, Philippe, Christophe, Faivre, Laurence, Thauvin-Robinet, Christel

“…Since the first description of a BRWD3-associated nonsydromic intellectual disability (ID) disorder in 2007, 21 additional families have been reported in the…”
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Positive effect of growth hormone treatment in maternal uniparental disomy chromosome 14 by Stalman, Susanne E., Kamp, Gerdine A., Hendriks, Yvonne M.C., Hennekam, Raoul C.M., Rotteveel, Joost

“…Summary Objective Maternal uniparental disomy of chromosome 14 (matUPD(14)) resembles Prader–Willi syndrome (PWS). As positive effects of growth hormone (GH)…”
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WT1 deletion leading to severe 46,XY gonadal dysgenesis, Wilms tumor and gonadoblastoma: case report by Finken, Martijn J J, Hendriks, Yvonne M C, van der Voorn, J Patrick, Veening, Margreet A, Lombardi, M Paola, Rotteveel, Joost

“…Heterozygous missense mutations in the WT1 gene that affect the function of the wild-type allele have been identified in Denys-Drash syndrome, which is…”
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GPSM 2 and Chudley– M c C ullough Syndrome: A Dutch Founder Variant Brought to North America by Almomani, Rowida, Sun, Yu, Aten, Emmelien, Hilhorst‐Hofstee, Yvonne, Peeters‐Scholte, Cacha M.P.C.D., van Haeringen, Arie, Hendriks, Yvonne M.C., den Dunnen, Johan T., Breuning, Martijn H., Kriek, Marjolein, Santen, Gijs W.E.

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The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family by van Puijenbroek, Marjo, Nielsen, Maartje, Reinards, Tjitske H C M, Weiss, Marjan M, Wagner, Anja, Hendriks, Yvonne M C, Vasen, Hans F A, Tops, Carli M J, Wijnen, Juul, van Wezel, Tom, Hes, Frederik J, Morreau, Hans

“…In the inherited syndromes, MUTYH-associated polyposis (MAP) and hereditary nonpolyposis colorectal cancer (HNPCC), somatic mutations occur due to loss of the…”
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