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2. Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome

Author

Gaasterland, C.M.W., Klein Haneveld, M.J., Vyshka, Klea, Hugon, A., van Eeghen, A.M., Alhambra, Norma, Anderlid, Britt-Marie, Andres, Stephanie, Aten, Emmelien, Guedes, Rui Barbosa, Bonaglia, Maria C., Bourgeron, Thomas, Burdeus-Olavarrieta, Monica, Carbin, Maya J., Cooke, Jennifer, Damstra, Robert J., de Coo, Irenaeus F.M., Di Domenico, Stella, Evans, D. Gareth, Fernández-Fructuoso, José Ramón, Grabrucker, Andreas M., Gunnarson, Cecilia, Hadzsiev, Kinga, Hennekam, Raoul C., Jesse, Sarah, Kant, Sarina G., Koza, Sylvia A., Kuiper, Els, Landlust, Annemiek M., Lapunzina, Pablo, Loth, Eva, Mansour, Sahar, Maruani, Anna, Mattina, Teresa, Matulevičienė, Aušra, Nevado, Julián, Parker, Susanne, Robert, Sandra, Sala, Carlo, San José Cáceres, Antonia, Schön, Michael, Šiaurytė, Kamilė, Stemkens, Daphne, Stiefsohn, Dominique, Swillen, Ann, Tabet, Anne C., Toro, Roberto, Turner, Alison, van Balkom, Ingrid D.C., van Buggenhout, Griet, van Eeghen, Agnies M., van Ravenswaaij-Arts, Conny M.A., van Weering, Sabrina, Verpelli, Chiara, Vignes, Stephane, Vogels, Annick, Walinga, Margreet, Stemkens, D., Maruani, A., Hadzsiev, K., and van Balkom, I.D.C.

Published
2023
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4. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

Author

Rots, Dmitrijs, Jakub, Taryn E., Keung, Crystal, Jackson, Adam, Banka, Siddharth, Pfundt, Rolph, de Vries, Bert B.A., van Jaarsveld, Richard H., Hopman, Saskia M.J., van Binsbergen, Ellen, Valenzuela, Irene, Hempel, Maja, Bierhals, Tatjana, Kortüm, Fanny, Lecoquierre, Francois, Goldenberg, Alice, Hertz, Jens Michael, Andersen, Charlotte Brasch, Kibæk, Maria, Prijoles, Eloise J., Stevenson, Roger E., Everman, David B., Patterson, Wesley G., Meng, Linyan, Gijavanekar, Charul, De Dios, Karl, Lakhani, Shenela, Levy, Tess, Wagner, Matias, Wieczorek, Dagmar, Benke, Paul J., Lopez Garcia, María Soledad, Perrier, Renee, Sousa, Sergio B., Almeida, Pedro M., Simões, Maria José, Isidor, Bertrand, Deb, Wallid, Schmanski, Andrew A., Abdul-Rahman, Omar, Philippe, Christophe, Bruel, Ange-Line, Faivre, Laurence, Vitobello, Antonio, Thauvin, Christel, Smits, Jeroen J., Garavelli, Livia, Caraffi, Stefano G., Peluso, Francesca, Davis-Keppen, Laura, Platt, Dylan, Royer, Erin, Leeuwen, Lisette, Sinnema, Margje, Stegmann, Alexander P.A., Stumpel, Constance T.R.M., Tiller, George E., Bosch, Daniëlle G.M., Potgieter, Stephanus T., Joss, Shelagh, Splitt, Miranda, Holden, Simon, Prapa, Matina, Foulds, Nicola, Douzgou, Sofia, Puura, Kaija, Waltes, Regina, Chiocchetti, Andreas G., Freitag, Christine M., Satterstrom, F. Kyle, De Rubeis, Silvia, Buxbaum, Joseph, Gelb, Bruce D., Branko, Aleksic, Kushima, Itaru, Howe, Jennifer, Scherer, Stephen W., Arado, Alessia, Baldo, Chiara, Patat, Olivier, Bénédicte, Demeer, Lopergolo, Diego, Santorelli, Filippo M., Haack, Tobias B., Dufke, Andreas, Bertrand, Miriam, Falb, Ruth J., Rieß, Angelika, Krieg, Peter, Spranger, Stephanie, Bedeschi, Maria Francesca, Iascone, Maria, Josephi-Taylor, Sarah, Roscioli, Tony, Buckley, Michael F., Liebelt, Jan, Dagli, Aditi I., Aten, Emmelien, Hurst, Anna C.E., Hicks, Alesha, Suri, Mohnish, Aliu, Ermal, Naik, Sunil, Sidlow, Richard, Coursimault, Juliette, Nicolas, Gaël, Küpper, Hanna, Petit, Florence, Ibrahim, Veyan, Top, Deniz, Di Cara, Francesca, Louie, Raymond J., Stolerman, Elliot, Brunner, Han G., Vissers, Lisenka E.L.M., Kramer, Jamie M., and Kleefstra, Tjitske

Published
2023
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5. Genetic Alterations in Patients with NF2 -Related Schwannomatosis and Sporadic Vestibular Schwannomas.

Author

Douwes, Jules P. J., van Eijk, Ronald, Maas, Sybren L. N., Jansen, Jeroen C., Aten, Emmelien, and Hensen, Erik F.

Abstract

Simple Summary: Vestibular schwannomas are tumors that occur on the nerve responsible for hearing and balance, the vestibulocochlear nerve. These benign tumors may appear on one side (unilateral) or both sides (bilateral), with bilateral cases often linked to a condition called NF2-related schwannomatosis. This study explored the genetic causes of vestibular schwannomas in three groups: patients with NF2, younger patients with a unilateral tumor, and older patients with a unilateral tumor. By analyzing DNA from the tumors and blood, we aimed to understand the genetic mutations that drive tumor development and how the genetics differed between the three groups. In all patients, it was found that one gene, NF2, played a major role in the development of vestibular schwannomas. However, there were also differences found in the types of genetic mutations and mechanisms involved, offering new insights into how these tumors form and progress. Background: Unilateral (uVS) and bilateral vestibular schwannoma (bVS) are distinct disease types, yet share tumorigenic features. This study examined causative genetic alterations in three groups: patients with NF2-related schwannomatosis (NF2), young patients with uVS (≤30 years), and older patients with uVS (≥40 years). Methods: Lymphocyte and vestibular schwannoma DNA was genetically analyzed. Outcomes included gene involvement, pathogenicity classification, variant type, effect, and location, and loss of heterozygosity (LOH) of chromosome 22. Results: Among 93 patients, 17% had NF2, 39% were ≤30 years with uVS, and 44% were ≥40 years with uVS. In all patients with NF2 (100%), two or more hits were detected in the tumor DNA, whereas patients with uVS had a slightly lower detection rate (89–98%). NF2-related tumors had a higher frequency of nucleotide variants (76%), while LOH events were more common in uVS (64–69%). Variants were mostly identified in NF2, with nonsense variants over-represented in patients with NF2 (38%) and frameshift variants more prevalent in uVS (44–51%). Conclusions: Biallelic NF2 inactivation primarily drives vestibular schwannoma tumorigenesis. In patients with NF2, two pathogenic NF2 variants or one NF2 variant with LOH are common, whereas patients with uVS often exhibit one NF2 variant with LOH. Additionally, variant types differ between patient groups. [ABSTRACT FROM AUTHOR]

Published
2025
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6. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Author

Stessman, Holly AF, Xiong, Bo, Coe, Bradley P, Wang, Tianyun, Hoekzema, Kendra, Fenckova, Michaela, Kvarnung, Malin, Gerdts, Jennifer, Trinh, Sandy, Cosemans, Nele, Vives, Laura, Lin, Janice, Turner, Tychele N, Santen, Gijs, Ruivenkamp, Claudia, Kriek, Marjolein, van Haeringen, Arie, Aten, Emmelien, Friend, Kathryn, Liebelt, Jan, Barnett, Christopher, Haan, Eric, Shaw, Marie, Gecz, Jozef, Anderlid, Britt-Marie, Nordgren, Ann, Lindstrand, Anna, Schwartz, Charles, Kooy, R Frank, Vandeweyer, Geert, Helsmoortel, Celine, Romano, Corrado, Alberti, Antonino, Vinci, Mirella, Avola, Emanuela, Giusto, Stefania, Courchesne, Eric, Pramparo, Tiziano, Pierce, Karen, Nalabolu, Srinivasa, Amaral, David G, Scheffer, Ingrid E, Delatycki, Martin B, Lockhart, Paul J, Hormozdiari, Fereydoun, Harich, Benjamin, Castells-Nobau, Anna, Xia, Kun, Peeters, Hilde, Nordenskjöld, Magnus, Schenck, Annette, Bernier, Raphael A, and Eichler, Evan E

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Biotechnology, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Pediatric, Autism, Mental Health, Genetic Testing, Mental health, Autistic Disorder, Developmental Disabilities, Female, Humans, Intellectual Disability, Male, Mutation, Phenotype, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 cases and >2,867 controls. We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.7% of cases. Drosophila functional assays revealed a subset with increased involvement in NDDs. We identified 25 genes showing a bias for autism versus intellectual disability and highlighted a network associated with high-functioning autism (full-scale IQ >100). Clinical follow-up for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease.

Published
2017

10. Putting genome-wide sequencing in neonates into perspective

Author

van der Sluijs, Pleuntje J., Aten, Emmelien, Barge-Schaapveld, Daniela Q.C.M., Bijlsma, Emilia K., Bökenkamp-Gramann, Regina, Donker Kaat, Laura, van Doorn, Remco, van de Putte, Dietje Fransen, van Haeringen, Arie, ten Harkel, Arend D.J., Hilhorst-Hofstee, Yvonne, Hoffer, Mariette J.V., den Hollander, Nicolette S., van Ierland, Yvette, Koopmans, Marije, Kriek, Marjolein, Moghadasi, Setareh, Nibbeling, Esther A.R., Peeters-Scholte, Cacha M.P.C.D., Potjer, Thomas P., van Rij, Maartje, Ruivenkamp, Claudia A.L., Rutten, Julie W., Steggerda, Sylke J., Suerink, Manon, Tan, Ratna N.G.B., van der Tuin, Karin, Visser, Remco, van der Werf -'t Lam, Anne-Sophie, Williams, Monique, Witlox, Ruben, and Santen, Gijs W.E.

Published
2019
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11. Correction: Putting genome-wide sequencing in neonates into perspective

Author

van der Sluijs, Pleuntje J., Aten, Emmelien, Barge-Schaapveld, Daniela Q. C. M., Bijlsma, Emilia K., Bökenkamp-Gramann, Regina, Kaat, Laura Donker, van Doorn, Remco, van de Putte, Dietje Fransen, van Haeringen, Arie, ten Harkel, Arend D. J., Hilhorst-Hofstee, Yvonne, Hoffer, Mariette J. V., den Hollander, Nicolette S., van Ierland, Yvette, Koopmans, Marije, Kriek, Marjolein, Moghadasi, Setareh, Nibbeling, Esther A. R., Peeters-Scholte, Cacha M. P. C. D., Potjer, Thomas P., van Rij, Maartje, Ruivenkamp, Claudia A. L., Rutten, Julie W., Steggerda, Sylke J., Suerink, Manon, Tan, Ratna N. G. B., van der Tuin, Karin, Visser, Remco, van der Werf –’t Lam, Anne-Sophie, Williams, Monique, Witlox, Ruben, and Santen, Gijs W. E.

Published
2019
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12. The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

Author

Fountain, Michael D., Aten, Emmelien, Cho, Megan T., Juusola, Jane, Walkiewicz, Magdalena A., Ray, Joseph W., Xia, Fan, Yang, Yaping, Graham, Brett H., Bacino, Carlos A., Potocki, Lorraine, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Mancias, Pedro, Northrup, Hope, Kukolich, Mary K., Weiss, Marjan M., van Ravenswaaij-Arts, Conny M.A., Mathijssen, Inge B., Levesque, Sebastien, Meeks, Naomi, Rosenfeld, Jill A., Lemke, Danielle, Hamosh, Ada, Lewis, Suzanne K., Race, Simone, Stewart, Laura L., Hay, Beverly, Lewis, Andrea M., Guerreiro, Rita L., Bras, Jose T., Martins, Marcia P., Derksen-Lubsen, Gerarda, Peeters, Els, Stumpel, Connie, Stegmann, Sander, Bok, Levinus A., Santen, Gijs W.E., and Schaaf, Christian P.

Published
2017
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13. Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome

Author

van Eeghen, A. M., Gaasterland, C. M.W., Haneveld, M. J.Klein, Stemkens, D., Fernández-Fructuoso, José Ramón, Maruani, Anna, Hadzsiev, K., Hadzsiev, Kinga, van Balkom, Ingrid D.C., Alhambra, Norma, Anderlid, Britt Marie, Andres, Stephanie, Aten, Emmelien, Guedes, Rui Barbosa, Bonaglia, Maria C., Bourgeron, Thomas, Burdeus-Olavarrieta, Monica, Carbin, Maya J., Kuiper, Els, Cooke, Jennifer, Damstra, Robert J., de Coo, Irenaeus F.M., Di Domenico, Stella, Evans, D. Gareth, Grabrucker, Andreas M., Gunnarson, Cecilia, Hennekam, Raoul C., Jesse, Sarah, Kant, Sarina G., Koza, Sylvia A., van Ravenswaaij-Arts, Conny M.A., Walinga, Margreet, Landlust, Annemiek M., van Eeghen, A. M., Gaasterland, C. M.W., Haneveld, M. J.Klein, Stemkens, D., Fernández-Fructuoso, José Ramón, Maruani, Anna, Hadzsiev, K., Hadzsiev, Kinga, van Balkom, Ingrid D.C., Alhambra, Norma, Anderlid, Britt Marie, Andres, Stephanie, Aten, Emmelien, Guedes, Rui Barbosa, Bonaglia, Maria C., Bourgeron, Thomas, Burdeus-Olavarrieta, Monica, Carbin, Maya J., Kuiper, Els, Cooke, Jennifer, Damstra, Robert J., de Coo, Irenaeus F.M., Di Domenico, Stella, Evans, D. Gareth, Grabrucker, Andreas M., Gunnarson, Cecilia, Hennekam, Raoul C., Jesse, Sarah, Kant, Sarina G., Koza, Sylvia A., van Ravenswaaij-Arts, Conny M.A., Walinga, Margreet, and Landlust, Annemiek M.

Abstract

The manifestations of Phelan-McDermid syndrome (PMS) are complex, warranting expert and multidisciplinary care in all life stages. In the present paper we propose consensus recommendations on the organization of care for individuals with PMS. We indicate that care should consider all life domains, which can be done within the framework of the International Classification of Functioning, Disability and Health (ICF). This framework assesses disability and functioning as the outcome of the individual's interactions with other factors. The different roles within care, such as performed by a centre of expertise, by regional health care providers and by a coordinating physician are addressed. A surveillance scheme and emergency card is provided and disciplines participating in a multidisciplinary team for PMS are described. Additionally, recommendations are provided for transition from paediatric to adult care. This care proposition may also be useful for individuals with other rare genetic neurodevelopmental disorders.

Published
2023

14. High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

Author

Douben, Hannie C. W., primary, Nellist, Mark, additional, van Unen, Leontine, additional, Elfferich, Peter, additional, Kasteleijn, Esmee, additional, Hoogeveen‐Westerveld, Marianne, additional, Louwen, Jesse, additional, van Veghel‐Plandsoen, Monique, additional, de Valk, Walter, additional, Saris, Jasper J., additional, Hendriks, Femke, additional, Korpershoek, Esther, additional, Hoefsloot, Lies H., additional, van Vliet, Margreethe, additional, van Bever, Yolande, additional, van de Laar, Ingrid, additional, Aten, Emmelien, additional, Lachmeijer, Augusta M. A., additional, Taal, Walter, additional, van den Bersselaar, Lisa, additional, Schuurmans, Juliette, additional, Oostenbrink, Rianne, additional, van Minkelen, Rick, additional, van Ierland, Yvette, additional, and van Ham, Tjakko J., additional

Published
2022
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15. High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

Author

Douben, Hannie C.W., Nellist, Mark, van Unen, Leontine, Elfferich, Peter, Kasteleijn, Esmee, Hoogeveen-Westerveld, Marianne, Louwen, Jesse, van Veghel-Plandsoen, Monique, de Valk, Walter, Saris, Jasper J., Hendriks, Femke, Korpershoek, Esther, Hoefsloot, Lies H., van Vliet, Margreethe, van Bever, Yolande, van de Laar, Ingrid, Aten, Emmelien, Lachmeijer, Augusta M.A., Taal, Walter, van den Bersselaar, Lisa, Schuurmans, Juliette, Oostenbrink, Rianne, van Minkelen, Rick, van Ierland, Yvette, van Ham, Tjakko J., Douben, Hannie C.W., Nellist, Mark, van Unen, Leontine, Elfferich, Peter, Kasteleijn, Esmee, Hoogeveen-Westerveld, Marianne, Louwen, Jesse, van Veghel-Plandsoen, Monique, de Valk, Walter, Saris, Jasper J., Hendriks, Femke, Korpershoek, Esther, Hoefsloot, Lies H., van Vliet, Margreethe, van Bever, Yolande, van de Laar, Ingrid, Aten, Emmelien, Lachmeijer, Augusta M.A., Taal, Walter, van den Bersselaar, Lisa, Schuurmans, Juliette, Oostenbrink, Rianne, van Minkelen, Rick, van Ierland, Yvette, and van Ham, Tjakko J.

Abstract

Neurofibromatosis type 1 (NF1) is caused by inactivating mutations in NF1. Due to the size, complexity, and high mutation rate at the NF1 locus, the identification of causative variants can be challenging. To obtain a molecular diagnosis in 15 individuals meeting diagnostic criteria for NF1, we performed transcriptome analysis (RNA-seq) on RNA obtained from cultured skin fibroblasts. In each case, routine molecular DNA diagnostics had failed to identify a disease-causing variant in NF1. A pathogenic variant or abnormal mRNA splicing was identified in 13 cases: 6 deep intronic variants and 2 transposon insertions causing noncanonical splicing, 3 postzygotic changes, 1 branch point mutation and, in 1 case, abnormal splicing for which the responsible DNA change remains to be identified. These findings helped resolve the molecular findings for an additional 17 individuals in multiple families with NF1, demonstrating the utility of skin-fibroblast-based transcriptome analysis for molecular diagnostics. RNA-seq improves mutation detection in NF1 and provides a powerful complementary approach to DNA-based methods. Importantly, our approach is applicable to other genetic disorders, particularly those caused by a wide variety of variants in a limited number of genes and specifically for individuals in whom routine molecular DNA diagnostics did not identify the causative variant.

Published
2022

16. Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder

Author

Latypova, Xenia, Vincent, Marie, Mollé, Alice, Adebambo, Oluwadamilare A., Fourgeux, Cynthia, Khan, Tahir N., Caro, Alfonso, Rosello, Monica, Orellana, Carmen, Niyazov, Dmitriy, Lederer, Damien, Deprez, Marie, Capri, Yline, Kannu, Peter, Tabet, Anne Claude, Levy, Jonathan, Aten, Emmelien, den Hollander, Nicolette, Splitt, Miranda, Walia, Jagdeep, Immken, Ladonna L., Stankiewicz, Pawel, McWalter, Kirsty, Suchy, Sharon, Louie, Raymond J., Bell, Shannon, Stevenson, Roger E., Rousseau, Justine, Willem, Catherine, Retiere, Christelle, Yang, Xiang-Jiao, Campeau, Philippe M., Martinez, Francisco, Rosenfeld, Jill A., Le Caignec, Cédric, Küry, Sébastien, Mercier, Sandra, Moradkhani, Kamran, Conrad, Solène, Besnard, Thomas, Cogné, Benjamin, Katsanis, Nicholas, Bézieau, Stéphane, Poschmann, Jeremie, Davis, Erica E., and Isidor, Bertrand

Published
2021
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18. Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology

Author

van Wijngaarden, Aniek L, primary, Hiemstra, Yasmine L, additional, Koopmann, Tamara T, additional, Ruivenkamp, Claudia A L, additional, Aten, Emmelien, additional, Schalij, Martin J, additional, Bax, Jeroen J, additional, Delgado, Victoria, additional, Barge-Schaapveld, Daniela Q C M, additional, and Ajmone Marsan, Nina, additional

Published
2020
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20. Correction: Putting genome-wide sequencing in neonates into perspective

Author

Genetica Klinische Genetica, Cancer, van der Sluijs, Pleuntje J., Aten, Emmelien, Barge-Schaapveld, Daniela Q.C.M., Bijlsma, Emilia K., Bökenkamp-Gramann, Regina, Kaat, Laura Donker, van Doorn, Remco, van de Putte, Dietje Fransen, van Haeringen, Arie, ten Harkel, Arend D.J., Hilhorst-Hofstee, Yvonne, Hoffer, Mariette J.V., den Hollander, Nicolette S., van Ierland, Yvette, Koopmans, Marije, Kriek, Marjolein, Moghadasi, Setareh, Nibbeling, Esther A.R., Peeters-Scholte, Cacha M.P.C.D., Potjer, Thomas P., van Rij, Maartje, Ruivenkamp, Claudia A.L., Rutten, Julie W., Steggerda, Sylke J., Suerink, Manon, Tan, Ratna N.G.B., van der Tuin, Karin, Visser, Remco, van der Werf–t Lam, Anne Sophie, Williams, Monique, Witlox, Ruben, Santen, Gijs W.E., Genetica Klinische Genetica, Cancer, van der Sluijs, Pleuntje J., Aten, Emmelien, Barge-Schaapveld, Daniela Q.C.M., Bijlsma, Emilia K., Bökenkamp-Gramann, Regina, Kaat, Laura Donker, van Doorn, Remco, van de Putte, Dietje Fransen, van Haeringen, Arie, ten Harkel, Arend D.J., Hilhorst-Hofstee, Yvonne, Hoffer, Mariette J.V., den Hollander, Nicolette S., van Ierland, Yvette, Koopmans, Marije, Kriek, Marjolein, Moghadasi, Setareh, Nibbeling, Esther A.R., Peeters-Scholte, Cacha M.P.C.D., Potjer, Thomas P., van Rij, Maartje, Ruivenkamp, Claudia A.L., Rutten, Julie W., Steggerda, Sylke J., Suerink, Manon, Tan, Ratna N.G.B., van der Tuin, Karin, Visser, Remco, van der Werf–t Lam, Anne Sophie, Williams, Monique, Witlox, Ruben, and Santen, Gijs W.E.

Published
2019

21. Lamin A/C -Related Cardiac Disease

Author

Hoorntje, Edgar T., primary, Bollen, Ilse A., additional, Barge-Schaapveld, Daniela Q., additional, van Tienen, Florence H., additional, te Meerman, Gerard J., additional, Jansweijer, Joeri A., additional, van Essen, Anthonie J., additional, Volders, Paul G., additional, Constantinescu, Alina A., additional, van den Akker, Peter C., additional, van Spaendonck-Zwarts, Karin Y., additional, Oldenburg, Rogier A., additional, Marcelis, Carlo L., additional, van der Smagt, Jasper J., additional, Hennekam, Eric A., additional, Vink, Aryan, additional, Bootsma, Marianne, additional, Aten, Emmelien, additional, Wilde, Arthur A., additional, van den Wijngaard, Arthur, additional, Broers, Jos L., additional, Jongbloed, Jan D., additional, van der Velden, Jolanda, additional, van den Berg, Maarten P., additional, and van Tintelen, J. Peter, additional

Published
2017
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22. Lamin A/C-Related Cardiac Disease : Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation

Author

Hoorntje, Edgar T, Bollen, Ilse Ae, Barge-Schaapveld, Daniela Q, Van Tienen, Florence H J, Te Meerman, Gerard J, Jansweijer, Joeri A, van Essen, Anthonie J, Volders, Paul G. A., Constantinescu, Alina, Van Den Akker, Peter C., van Spaendonck-Zwarts, Karin Y., Oldenburg, Rogier A, Marcelis, Carlo L. M., van der Smagt, Jasper J, Hennekam, Eric A, Vink, Aryan, Bootsma, Marianne, Aten, Emmelien, Wilde, Arthur A A M, van den Wijngaard, Arthur, Broers, Jos L, Jongbloed, Jan D. H., van der Velden, Jolanda, van den Berg, Maarten P., van Tintelen, J. Peter, Hoorntje, Edgar T, Bollen, Ilse Ae, Barge-Schaapveld, Daniela Q, Van Tienen, Florence H J, Te Meerman, Gerard J, Jansweijer, Joeri A, van Essen, Anthonie J, Volders, Paul G. A., Constantinescu, Alina, Van Den Akker, Peter C., van Spaendonck-Zwarts, Karin Y., Oldenburg, Rogier A, Marcelis, Carlo L. M., van der Smagt, Jasper J, Hennekam, Eric A, Vink, Aryan, Bootsma, Marianne, Aten, Emmelien, Wilde, Arthur A A M, van den Wijngaard, Arthur, Broers, Jos L, Jongbloed, Jan D. H., van der Velden, Jolanda, van den Berg, Maarten P., and van Tintelen, J. Peter

Published
2017

23. Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation

Author

Genetica Klinische Genetica, Circulatory Health, Pathologie Pathologen staf, Hoorntje, Edgar T, Bollen, Ilse Ae, Barge-Schaapveld, Daniela Q, Van Tienen, Florence H J, Te Meerman, Gerard J, Jansweijer, Joeri A, van Essen, Anthonie J, Volders, Paul G. A., Constantinescu, Alina, Van Den Akker, Peter C., van Spaendonck-Zwarts, Karin Y., Oldenburg, Rogier A, Marcelis, Carlo L. M., van der Smagt, Jasper J, Hennekam, Eric A, Vink, Aryan, Bootsma, Marianne, Aten, Emmelien, Wilde, Arthur A A M, van den Wijngaard, Arthur, Broers, Jos L, Jongbloed, Jan D. H., van der Velden, Jolanda, van den Berg, Maarten P., van Tintelen, J. Peter, Genetica Klinische Genetica, Circulatory Health, Pathologie Pathologen staf, Hoorntje, Edgar T, Bollen, Ilse Ae, Barge-Schaapveld, Daniela Q, Van Tienen, Florence H J, Te Meerman, Gerard J, Jansweijer, Joeri A, van Essen, Anthonie J, Volders, Paul G. A., Constantinescu, Alina, Van Den Akker, Peter C., van Spaendonck-Zwarts, Karin Y., Oldenburg, Rogier A, Marcelis, Carlo L. M., van der Smagt, Jasper J, Hennekam, Eric A, Vink, Aryan, Bootsma, Marianne, Aten, Emmelien, Wilde, Arthur A A M, van den Wijngaard, Arthur, Broers, Jos L, Jongbloed, Jan D. H., van der Velden, Jolanda, van den Berg, Maarten P., and van Tintelen, J. Peter

Published
2017

25. The Implicitome: A Resource for Rationalizing Gene-Disease Associations

Author

Hettne, Kristina M., primary, Thompson, Mark, additional, van Haagen, Herman H. H. B. M., additional, van der Horst, Eelke, additional, Kaliyaperumal, Rajaram, additional, Mina, Eleni, additional, Tatum, Zuotian, additional, Laros, Jeroen F. J., additional, van Mulligen, Erik M., additional, Schuemie, Martijn, additional, Aten, Emmelien, additional, Li, Tong Shu, additional, Bruskiewich, Richard, additional, Good, Benjamin M., additional, Su, Andrew I., additional, Kors, Jan A., additional, den Dunnen, Johan, additional, van Ommen, Gert-Jan B., additional, Roos, Marco, additional, ‘t Hoen, Peter A.C., additional, Mons, Barend, additional, and Schultes, Erik A., additional

Published
2016
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