Search Results - "Hout, Annemarie"

Shining trinkets and unkempt gardens: on the materiality of care by Hout, Annemarie, Pols, Jeannette, Willems, Dick

“…The increasing use of telecare will profoundly change nursing care. How to understand these changes is, however, far from clear. This is because (i) studies on…”
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Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes by Kooi, Irsan E., Mol, Berber M., Massink, Maarten P. G., Ameziane, Najim, Meijers-Heijboer, Hanne, Dommering, Charlotte J., van Mil, Saskia E., de Vries, Yne, van der Hout, Annemarie H., Kaspers, Gertjan J. L., Moll, Annette C., te Riele, Hein, Cloos, Jacqueline, Dorsman, Josephine C.

“…Retinoblastoma is a rare childhood cancer initiated by RB1 mutation or MYCN amplification, while additional alterations may be required for tumor development…”
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De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females by Scala, Marcello, Zonneveld-Huijssoon, Evelien, Brienza, Marianna, Mecarelli, Oriano, van der Hout, Annemarie H., Zambrelli, Elena, Turner, Katherine, Zara, Federico, Peron, Angela, Vignoli, Aglaia, Striano, Pasquale

“…Individuals harboring pathogenic variants in ARHGEF9 , encoding an essential submembrane protein for gamma-aminobutyric acid (GABA)–ergic synapses named…”
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RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients by Dommering, Charlotte J, Mol, Berber M, Moll, Annette C, Burton, Margaret, Cloos, Jacqueline, Dorsman, Josephine C, Meijers-Heijboer, Hanne, van der Hout, Annemarie H

“…Retinoblastoma (Rb) is a childhood cancer of the retina, commonly initiated by biallelic inactivation of the RB1 gene. Knowledge of the presence of a heritable…”
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A post hoc study on gene panel analysis for the diagnosis of dystonia by van Egmond, Martje E., Lugtenberg, Coen H.A., Brouwer, Oebele F., Contarino, Maria Fiorella, Fung, Victor S.C., Heiner‐Fokkema, M. Rebecca, van Hilten, Jacobus J., van der Hout, Annemarie H., Peall, Kathryn J., Sinke, Richard J., Roze, Emmanuel, Verschuuren‐Bemelmans, Corien C., Willemsen, Michel A., Wolf, Nicole I., Tijssen, Marina A., de Koning, Tom J.

“…ABSTRACT Background: Genetic disorders causing dystonia show great heterogeneity. Recent studies have suggested that next‐generation sequencing techniques such…”
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TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes by Ruijs, Marielle W G, Verhoef, Senno, Rookus, Matti A, Pruntel, Roelof, van der Hout, Annemarie H, Hogervorst, Frans B L, Kluijt, I, Sijmons, Rolf H, Aalfs, Cora M, Wagner, Anja, Ausems, Margreet G E M, Hoogerbrugge, Nicoline, van Asperen, Christi J, Gomez Garcia, Encarna B, Meijers-Heijboer, Hanne, Ten Kate, Leo P, Menko, Fred H, van 't Veer, Laura J

“…BACKGROUND Li-Fraumeni syndrome (LFS) is a rare autosomal dominant cancer predisposition syndrome. Most families fulfilling the classical diagnostic criteria…”
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IVF and retinoblastoma revisited by Dommering, Charlotte J., M.D, van der Hout, Annemarie H., Ph.D, Meijers-Heijboer, Hanne, M.D., Ph.D, Marees, Tamara, Ph.D, Moll, Annette C., M.D., Ph.D

“…Objective To evaluate the suggested association between IVF, retinoblastoma, and tumor methylation characteristics. Design Laboratory analysis. Setting…”
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The BRCA1/2 Parent-of-Origin Effect on Breast Cancer Risk-Response by Vos, Janet R, Oosterwijk, Jan C, Rookus, Matti A, van der Hout, Annemarie H, Mourits, Marian J, de Bock, Geertruida H

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RB1 mutations and second primary malignancies after hereditary retinoblastoma by Dommering, Charlotte J., Marees, Tamara, van der Hout, Annemarie H., Imhof, Saskia M., Meijers-Heijboer, Hanne, Ringens, Peter J., van Leeuwen, Flora E., Moll, Annette C.

“…Survivors of hereditary retinoblastoma have a high risk of second primary malignancies, but it has not been investigated whether specific RB1 germline…”
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Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands by Dommering, Charlotte J., Henneman, Lidewij, van der Hout, Annemarie H., Jonker, Marianne A., Tops, Carli M. J., van den Ouweland, Ans M. W., van der Luijt, Rob B., Mensenkamp, Arjen R., Hogervorst, Frans B. L., Redeker, Egbert J. W., de Die-Smulders, Christine E. M., Moll, Annette C., Meijers-Heijboer, Hanne

“…Since the 1980s the genetic cause of many hereditary tumor syndromes has been elucidated. As a consequence, carriers of a deleterious mutation in these genes…”
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A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example by Mohammadi, Leila, Vreeswijk, Maaike P, Oldenburg, Rogier, van den Ouweland, Ans, Oosterwijk, Jan C, van der Hout, Annemarie H, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn, Ausems, Margreet G, van der Luijt, Rob B, Dommering, Charlotte J, Gille, Johan J, Verhoef, Senno, Hogervorst, Frans B, van Os, Theo A, Gómez García, Encarna, Blok, Marinus J, Wijnen, Juul T, Helmer, Quinta, Devilee, Peter, van Asperen, Christi J, van Houwelingen, Hans C

“…Assessment of the clinical significance of unclassified variants (UVs) identified in BRCA1 and BRCA2 is very important for genetic counselling. The analysis of…”
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High resolution SNP array profiling identifies variability in retinoblastoma genome stability by Mol, Berber M., Massink, Maarten P. G., van der Hout, Annemarie H., Dommering, Charlotte J., Zaman, Johannes M. A., Bosscha, Machteld I., Kors, Wijnanda A., Meijers-Heijboer, Hanne E., Kaspers, Gertjan J. L., Riele, Hein te, Moll, Annette C., Cloos, Jacqueline, Dorsman, Josephine C.

“…Both hereditary and nonhereditary retinoblastoma (Rb) are commonly initiated by loss of both copies of the retinoblastoma tumor suppressor gene (RB1), while…”
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Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers by Vos, Janet R, Oosterwijk, Jan C, Aalfs, Cora M, Rookus, Matti A, Adank, Muriel A, van der Hout, Annemarie H, van Asperen, Christi J, Gómez Garcia, Encarna B, Mensenkamp, Arjen R, Jager, Agnes, Ausems, Margreet G E M, Mourits, Marian J, de Bock, Geertruida H

“…Paternal transmission of a BRCA mutation has been reported to increase the risk of breast cancer in offspring more than when the mutation is maternally…”
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A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history by Gómez García, Encarna B, Oosterwijk, Jan C, Timmermans, Maarten, van Asperen, Christi J, Hogervorst, Frans B L, Hoogerbrugge, Nicoline, Oldenburg, Rogier, Verhoef, Senno, Dommering, Charlotte J, Ausems, Margreet G E M, van Os, Theo A M, van der Hout, Annemarie H, Ligtenberg, Marjolijn, van den Ouweland, Ans, van der Luijt, Rob B, Wijnen, Juul T, Gille, Jan J P, Lindsey, Patrick J, Devilee, Peter, Blok, Marinus J, Vreeswijk, Maaike P G

“…Unclassified variants (UVs) in the BRCA1/BRCA2 genes are a frequent problem in counseling breast cancer and/or ovarian cancer families. Information about…”
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Severe Myocardial Fibrosis Caused by a Deletion of the 5’ End of the Lamin A/C Gene by van Tintelen, J. Peter, MD, Tio, Rene A., MD, PhD, Kerstjens-Frederikse, Wilhelmina S., MD, van Berlo, Jop H., MD, Boven, Ludolf G., BSc, Suurmeijer, Albert J.H., MD, PhD, White, Stefan J., PhD, den Dunnen, Johan T., PhD, te Meerman, Gerard J., PhD, Vos, Yvonne J., MSc, van der Hout, Annemarie H., PhD, Osinga, Jan, van den Berg, Maarten P., MD, PhD, van Veldhuisen, Dirk J., MD, PhD, Buys, Charles H.C.M., PhD, Hofstra, Robert M.W., PhD, Pinto, Yigal M., MD, PhD

“…Severe Myocardial Fibrosis Caused by a Deletion of the 5’ End of the Lamin A/C Gene J. Peter van Tintelen, Rene A. Tio, Wilhelmina S. Kerstjens-Frederikse, Jop…”
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Variation in mutation spectrum partly explains regional differences in the breast cancer risk of female BRCA mutation carriers in the Netherlands by Vos, Janet R, Teixeira, Natalia, van der Kolk, Dorina M, Mourits, Marian J E, Rookus, Matti A, van Leeuwen, Flora E, Collée, Margriet, van Asperen, Christi J, Mensenkamp, Arjen R, Ausems, Margreet G E M, van Os, Theo A M, Meijers-Heijboer, Hanne E J, Gómez-Garcia, Encarna B, Vasen, Hans F, Brohet, Richard M, van der Hout, Annemarie H, Jansen, Liesbeth, Oosterwijk, Jan C, de Bock, Geertruida H

“…We aimed to quantify previously observed relatively high cancer risks in BRCA2 mutation carriers (BRCA2 carriers) older than 60 in the Northern Netherlands,…”
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Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia by VAN DER HOUT, Annemarie H, OUDESLUIJS, Grétel G, VENEMA, Andrea, VERHEIJ, Joke B. G. M, MOL, Bart G. J, RUMP, Patrick, BRUNNER, Han G, VOS, Yvonne J, VAN ESSEN, Anthonie J

“…Hypohidrotic ectodermal dysplasia (HED) can be caused by mutations in the X-linked ectodysplasin A (ED1) gene or the autosomal ectodysplasin A-receptor (EDAR)…”
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Mutation-based growth charts for SEDC and other COL2A1 related dysplasias by Terhal, Paulien A., van Dommelen, Paula, Le Merrer, Martine, Zankl, Andreas, Simon, Marleen E.H., Smithson, Sarah F., Marcelis, Carlo, Kerr, Bronwyn, Kinning, Esther, Mansour, Sahar, Hennekam, Raoul C.M., van der Hout, Annemarie H., Cormier-Daire, Valerie, Lund, Allan M., Goodwin, Linda, Mégarbané, André, Lees, Melissa, Betz, Regina C., Tobias, Edward S., Coucke, Paul, Mortier, Geert R.

“…From data collected via a large international collaborative study, we have constructed a growth chart for patients with molecularly confirmed congenital…”
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Expanding the ADCY5 phenotype toward spastic paraparesis: A mutation in the M2 domain by Waalkens, Anne J E, Vansenne, Fleur, van der Hout, Annemarie H, Zutt, Rodi, Mourmans, Jeroen, Tolosa, Eduardo, de Koning, Tom J, Tijssen, Marina A J

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A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting 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., Hoogerbrugge, Nicoline, Verhoef, Senno, Halley, Dicky J.J., Vos, Yvonne J., Hogervorst, Frans, Ligtenberg, Marjolijn, Hofstra, Robert M.W.

“…Rapid and reliable identification of deleterious changes in the breast cancer genes BRCA1 and BRCA2 has become one of the major issues in most DNA services…”
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