Search Results - Mariet W. Elting

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  1. 1
    Prevalence of diabetes mellitus, hypertension and cardiac complaints in a follow-up study of a Dutch PCOS population

    Prevalence of diabetes mellitus, hypertension and cardiac complaints in a follow-up study of a Dutch PCOS population by Mariet W. Elting, T. Korsen, P.D. Bezemer, J. Schoemaker

    Published 2001
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  2. 2
    Women with polycystic ovary syndrome gain regular menstrual cycles when ageing

    Women with polycystic ovary syndrome gain regular menstrual cycles when ageing by Mariet W. Elting, T. Korsen, L.T.M. Rekers-Mombarg, J. Schoemaker

    Published 2000
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  3. 3
    Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era

    Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era by Kyra E. Stuurman, Marieke Joosten, Ineke van der Burgt, Mariet W. Elting, Helger G. Yntema, Hanne Meijers‐Heijboer, Tuula Rinne

    Published 2019
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  4. 4
    Collagen transport and related pathways in Osteogenesis Imperfecta

    Collagen transport and related pathways in Osteogenesis Imperfecta by Lauria Claeys, Silvia Storoni, Marelise Eekhoff, Mariet W. Elting, Lisanne E. Wisse, Gerard Pals, Nathalie Bravenboer, Alessandra Maugeri, Dimitra Micha

    Published 2021
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  5. 5
    Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next‐Generation Sequencing and Informed Consent in Diagnostics

    Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next‐Generation Sequencing and Informed Consent in Diagnostics by Tessel Rigter, Lidewij Henneman, Ulf Kristoffersson, Alison Hall, Helger G. Yntema, Pascal Borry, Holger Tönnies, Quinten Waisfisz, Mariet W. Elting, Wybo Dondorp, Martina C. Cornel

    Published 2013
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  6. 6
    Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

    Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis by Yvonne J. Vos, Hermien E. K. de Walle, K. K. Bos, Arjan Stegeman, Annelies M. ten Berge, Monique J. Bruining, Merel C. van Maarle, Mariet W. Elting, Nicolette S. den Hollander, B Hamel, Ana María Fortuna, Lone Sunde, Irene Stolte‐Dijkstra, C. T. R. M. Schrander‐Stumpel, Robert M.W. Hofstra

    Published 2009
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  7. 7
    De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

    De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures by Susanne Horn, Margaret Au, Lina Basel‐Vanagaite, Pınar Bayrak‐Toydemir, Alexander Chapin, Lior Cohen, Mariet W. Elting, John M. Graham, Claudia Gonzaga‐Jauregui, Osnat Konen, Max Holzer, Johannes R. Lemke, Christine E. Miller, Linda K. Rey, Nicole I. Wolf, Marjan M. Weiss, Quinten Waisfisz, Ghayda Mirzaa, Dagmar Wieczorek, Heinrich Sticht, Rami Abou Jamra

    Published 2019
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  8. 8
    Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia

    Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia by Taneli Raivio, Magdalena Avbelj Stefanija, Mark J. McCabe, Christopher Romero, Andrew Dwyer, Johanna Tommiska, Gerasimos P. Sykiotis, Louise Gregory, Daniel Diaczok, Vaitsa Tziaferi, Mariet W. Elting, Raja Padidela, Lacey Plummer, Cecilia Martin, Bihua Feng, Chengkang Zhang, Qun-Yong Zhou, Huaibin Chen, Moosa Mohammadi, Richard Quinton, Yisrael Sidis, Sally Radovick, Mehul Dattani, Nelly Pitteloud

    Published 2012
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  9. 9
    PPIB Mutations Cause Severe Osteogenesis Imperfecta

    PPIB Mutations Cause Severe Osteogenesis Imperfecta by Fleur S. van Dijk, I. M. Nesbitt, Eline H. Zwikstra, Peter G. J. Nikkels, Sander R. Piersma, Silvina A. Fratantoni, Connie R. Jiménez, Margriet Huizer, Alice C. Morsman, Jan M. Cobben, Mirjam H.H. van Roij, Mariet W. Elting, Jonathan Verbeke, Liliane C. D. Wijnaendts, Nick J. Shaw, Wolfgang Högler, C McKeown, Erik A. Sistermans, Ann Dalton, Hanne Meijers‐Heijboer, Gerard Pals

    Published 2009
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  10. 10
    Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

    Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging by Chantal Deden, Kornelia Neveling, Dimitra Zafeiropopoulou, Christian Gilissen, Rolph Pfundt, Tuula Rinne, Nicole de Leeuw, Brigitte H. W. Faas, Thatjana Gardeitchik, Suzanne C.E.H. Sallevelt, Aimée Paulussen, Servi J.C. Stevens, Esther Sikkel, Mariet W. Elting, Merel C. van Maarle, Karin E. M. Diderich, Nicole Corsten‐Janssen, Klaske D. Lichtenbelt, Guus Lachmeijer, Lisenka E.L.M. Vissers, Helger G. Yntema, Marcel Nelen, Ilse Feenstra, Wendy A.G. van Zelst–Stams

    Published 2020
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  11. 11
    DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review

    DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review by Milou G. P. Kennis, Dmitrijs Rots, Arjan Bouman, Charlotte W. Ockeloen, Caroline Boelen, Carlo Marcelis, Bert B.A. de Vries, Mariet W. Elting, Quinten Waisfisz, Mohnish Suri, Esperanza Font–Montgomery, Dawn Peck, Deirdre E. Donnelly, R. Curtis Rogers, Ruth Richardson, Roseline Caumes, Boris Chaumette, Cécile Louveau, Suzanne C.E.H. Sallevelt, Saskia M. Maas, Jeroen J. Smits, Mieke M. van Haelst, Rebecca J. Levy, Helen Stewart, Bart Loeys, Rolph Pfundt, Tjitske Kleefstra, Lot Snijders Blok

    Published 2025
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  12. 12
    KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

    KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia by Maartje Pennings, Meyke Schouten, Judith van Gaalen, Rowdy Meijer, Susanne T. de Bot, Marjolein Kriek, Christiaan G. J. Saris, Leonard H. van den Berg, Michael A. van Es, Dick M. H. Zuidgeest, Mariet W. Elting, Jiddeke M. van de Kamp, Karin Y. van Spaendonck‐Zwarts, Christine de Die‐Smulders, Eva H. Brilstra, Corien Verschuuren, Bert B.A. de Vries, Jacques Bruijn, Kalliopi Sofou, Floor A.M. Duijkers, Bregje Jaeger, Jolanda Schieving, Bart P.C. van de Warrenburg, Erik-Jan Kamsteeg

    Published 2019
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  13. 13
    ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

    ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 by Sylvia Hoff, Jan Halbritter, Daniel Epting, Valeska Frank, Thanh-Minh T. Nguyen, Jeroen van Reeuwijk, Christopher Boehlke, Christoph Schell, Takayuki Yasunaga, Martin Helmstädter, Miriam Mergen, Emilie Filhol, Karsten Boldt, Nicola Horn, Marius Ueffing, Edgar A. Otto, Tobias Eisenberger, Mariet W. Elting, J. A. E. van Wijk, Detlef Böckenhauer, Neil J. Sebire, Søren Rittig, Mogens Vyberg, Troels Ring, Martin Pöhl, Lars Pape, Thomas J. Neuhaus, Neveen A. Soliman, Sarah Koon, Peter C. Harris, Florian Grahammer, Tobias B. Huber, E. Wolfgang Kuehn, Albrecht Kramer-Zucker, Hanno J. Bolz, Ronald Roepman, Sophie Saunier, Gerd Walz, Friedhelm Hildebrandt, Carsten Bergmann, Soeren S. Lienkamp

    Published 2013
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  14. 14
    Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

    Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy by Marianna Madeo, Michelle Stewart, Yuyang Sun, Nadia Sahir, Sarah Wiethoff, Indra Chandrasekar, Anna Yarrow, Jill A. Rosenfeld, Yaping Yang, Dawn Cordeiro, Elizabeth M. McCormick, Colleen Muraresku, Tyler Jepperson, Lauren McBeth, Mohammed Zain Seidahmed, Heba Y. El Khashab, Muddathir H. Hamad, Hamid Azzedine, Karl J. Clark, Silvia Corrochano, Sara Wells, Mariet W. Elting, Marjan M. Weiss, Sabrina C. Burn, Angela Myers, Megan Landsverk, Patricia L. Crotwell, Quinten Waisfisz, Nicole I. Wolf, Patrick M. Nolan, Sergio Padilla-López, Henry Houlden, Richard P. Lifton, Shrikant Mane, Brij B. Singh, Marni J. Falk, Saadet Mercimek‐Mahmutoglu, Kaya Bilgüvar, Mustafa A. Salih, Abraham Acevedo‐Arozena, Michael C. Kruer

    Published 2016
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  15. 15
    Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

    Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum by Marialetizia Motta, Luca Pannone, Francesca Pantaleoni, Gianfranco Bocchinfuso, Francesca Clementina Radio, Serena Cecchetti, Andrea Ciolfi, Martina Di Rocco, Mariet W. Elting, Eva H. Brilstra, Stefania Boni, Laura Mazzanti, Federica Tamburrino, Larry Walsh, Katelyn Payne, Alberto Fernández‐Jaén, Mythily Ganapathi, Wendy K. Chung, Dorothy K. Grange, Ashita Dave‐Wala, Shalini C. Reshmi, Dennis W. Bartholomew, Danielle Mouhlas, Giovanna Carpentieri, Alessandro Bruselles, Simone Pizzi, Emanuele Bellacchio, Francesca Piceci‐Sparascio, Christina Lißewski, Julia Brinkmann, Ronald R. Waclaw, Quinten Waisfisz, Koen L.I. van Gassen, Ingrid M. Wentzensen, Michelle M. Morrow, Sara Álvarez, Mónica Mártinez‐García, Alessandro De Luca, Luigi Memo, Giuseppe Zampino, Cesare Rossi, Marco Seri, Bruce D. Gelb, Martin Zenker, Bruno Dallapiccola, Lorenzo Stella, Carlos E. Prada, Simone Martinelli, Elisabetta Flex, Marco Tartaglia

    Published 2020
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  16. 16
    A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1</i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

    A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1</i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype by Paulien A. Terhal, Rutger Jan Nievelstein, Eva J. J. Verver, Vedat Topsakal, Paula van Dommelen, Kristien Hoornaert, Martine Le Merrer, Andreas Zankl, Marleen Simon, Sarah Smithson, Carlo Marcelis, Bronwyn Kerr, Jill Clayton‐Smith, Esther Kinning, Sahar Mansour, Frances Elmslie, Linda Goodwin, Annemarie H. van der Hout, Hermine E. Veenstra‐Knol, Johanna C. Herkert, Allan M. Lund, Raoul C. M. Hennekam, André Mégarbané, Melissa Lees, Louise C. Wilson, Alison Male, Jane A. Hurst, Yasemin Alanay, Göran Annerén, Regina C. Betz, Ernie M.H.F. Bongers, Valérie Cormier‐Daire, Anne Dieux, Albert David, Mariet W. Elting, Jenneke van den Ende, Andrew Green, Johanna M. van Hagen, Niels Thomas Hertel, Muriel Holder‐Espinasse, Nicolette S. den Hollander, Tessa Homfray, Hanne Hove, Susan Price, Annick Raas‐Rothschild, Marianne Rohrbach, Barbara Schroeter, Mohnish Suri, Elizabeth M. Thompson, Edward S. Tobias, Annick Toutain, Maaike Vreeburg, Emma Wakeling, Nine Knoers, Paul Coucke, Geert Mortier

    Published 2015
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  17. 17
    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome by Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Sarah Smithson, Ana Beleza‐Meireles, Mariet W. Elting, Quinten Waisfisz, Anne O’Donnell‐Luria, C. Nowak, Jessica Douglas, Anne Ronan, Theresa Brunet, Urania Kotzaeridou, Shayna Svihovec, Margarita Sáenz, Isabelle Thiffault, Florencia Del Viso, Patrick Devine, Shannon Rego, Jessica Tenney, Arie van Haeringen, Claudia Ruivenkamp, Saskia Koene, Stephen P. Robertson, Charulata Deshpande, Rolph Pfundt, Nienke E. Verbeek, Jiddeke M. van de Kamp, Janneke M.M. Weiss, Anna Ruiz, Elisabeth Gabau, Ehud Banne, Alexander Pepler, Armand Bottani, Sacha Laurent, Michel Guipponi, Emilia Bijlsma, Ange‐Line Bruel, Arthur Sorlin, Mary Willis, Zöe Powis, Thomas Smol, Catherine Vincent‐Delorme, Diana Baralle, Estelle Colin, Nicole Revençu, Eduardo Calpena, Andrew O.M. Wilkie, Maya Chopra, Valérie Cormier‐Daire, Boris Keren, Alexandra Afenjar, Marcello Niceta, Antonio Terracciano, Nicola Specchio, Marco Tartaglia, Marlène Rio, Giulia Barcia, Sophie Rondeau, Cindy Colson, Jeroen Bakkers, Peter D. Mace, Louise S. Bicknell, Gijs van Haaften

    Published 2022
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  18. 18
    Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

    Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders by Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat‐Houari, Sara Bargiacchi, Elisa Biamino, María Palomares‐Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin Hilton, Zandra A. Jenkins, Simranpreet Kaur, M. E. Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Pallarès, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocío Rius, Stephen P. Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin‐Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Schrier Vergano, Niels Vos, Kellie K. Walden, Dimitar N. Azmanov, Tuğçe B. Balcı, Siddharth Banka, Jozef Gécz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Mok Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym M. Boycott, Nicola Brunetti‐Pierri, Philippe M. Campeau, John Christodoulou, David A. Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Geneviève, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl R. Greenberg, Charles E. Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Mariëlle Alders, Matthew L. Tedder, Bekim Sadiković

    Published 2021
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  19. 19
    Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

    Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders by Michael A. Levy, Raissa Relator, Haley McConkey, Erinija Pranckevičienė, Jennifer Kerkhof, Mouna Barat‐Houari, Sara Bargiacchi, Elisa Biamino, María Palomares‐Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Marco Ferilli, Robin S. Fletcher, Florian Cherick, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin Hilton, Zandra A. Jenkins, Simranpreet Kaur, M. E. Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Pallarès, Maria Piccione, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Rocío Rius, Stephen P. Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin‐Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Schrier Vergano, Niels Vos, Kellie K. Walden, Dimitar N. Azmanov, Tuğçe B. Balcı, Siddharth Banka, Jozef Gécz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Mok Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym M. Boycott, Nicola Brunetti‐Pierri, Philippe M. Campeau, Dominique Campion, John Christodoulou, David A. Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Geneviève, Delphine Héron, Thomas Husson, Kristin D. Kernohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl R. Greenberg, Charles E. Schwartz, Steven A. Skinner, Roger E. Stevenson, Marie Vincent, Antonio Vitobello, Marco Tartaglia, Mariëlle Alders, Matthew L. Tedder, Bekim Sadiković

    Published 2022
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