Search Results - "Ropers, G."

Acute eosinophilic pneumonia after recent start of smoking by Brackel, Caroline L H, Dr, Ropers, Fabienne G, MD, Vermaas-Fricot, Sophie F N, MD, Koens, Lianne, MD, Willems, Luuk N A, PhD, Rikkers-Mutsaerts, Eleonora R V M, MD

“…Repeat chest radiograph showed progressive bilateral infiltrations and a right-sided pleural effusion, but unexpectedly C-reactive protein had decreased from…”
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Evaluation of FDG-PET/CT Use in Children with Suspected Infection or Inflammation by Ropers, Fabienne G., van Mossevelde, Robin M. P., Bleeker-Rovers, Chantal P., van Velden, Floris H. P., van Assema, Danielle M. E., Adam, Judit A., Lam, Marnix G. E. H., Tolboom, Nelleke, Dekkers, Olaf M., de Geus-Oei, Lioe-Fee, Frings, Virginie

“…[18F]-FDG-PET/CT ([18F]-fluoro-deoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT)) is increasingly used as a diagnostic tool in…”
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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome by van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Santen, Gijs W. E.

“…Purpose Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing…”
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Diagnostic testing in children: A qualitative study of pediatricians' considerations by Ropers, Fabienne G, Rietveld, Sophie, Rings, Edmond H H M, Bossuyt, Patrick M M, van Bodegom-Vos, Leti, Hillen, Marij A

“…Studies in adult medicine have shown that physicians base testing decisions on the patient's clinical condition but also consider other factors, including…”
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Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy by van der Sluijs, Pleuntje J., Moutton, Sébastien, Dingemans, Alexander J.M., Weis, Denisa, Levy, Michael A., Boycott, Kym M., Arberas, Claudia, Baldassarri, Margherita, Beneteau, Claire, Brusco, Alfredo, Coutton, Charles, Dabir, Tabib, Dentici, Maria L., Devriendt, Koenraad, Faivre, Laurence, van Haelst, Mieke M., Jizi, Khadije, Kempers, Marlies J., Kerkhof, Jennifer, Kharbanda, Mira, Lachlan, Katherine, Marle, Nathalie, McConkey, Haley, Mencarelli, Maria A., Mowat, David, Niceta, Marcello, Nicolas, Claire, Novelli, Antonio, Orlando, Valeria, Pichon, Olivier, Rankin, Julia, Relator, Raissa, Ropers, Fabienne G., Rosenfeld, Jill A., Sachdev, Rani, Sandaradura, Sarah A., Shukarova-Angelovska, Elena, Steenbeek, Duco, Tartaglia, Marco, Tedder, Matthew A., Trajkova, Slavica, Winer, Norbert, Woods, Jeremy, de Vries, Bert B.A., Sadikovic, Bekim, Alders, Marielle, Santen, Gijs W.E.

“…ARID1A/ARID1B haploinsufficiency leads to Coffin-Siris syndrome, duplications of ARID1A lead to a distinct clinical syndrome, whilst ARID1B duplications have…”
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Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals by Bosch, Elisabeth, Popp, Bernt, Güse, Esther, Skinner, Cindy, van der Sluijs, Pleuntje J., Maystadt, Isabelle, Pinto, Anna Maria, Renieri, Alessandra, Bruno, Lucia Pia, Granata, Stefania, Marcelis, Carlo, Baysal, Özlem, Hartwich, Dewi, Holthöfer, Laura, Isidor, Bertrand, Cogne, Benjamin, Wieczorek, Dagmar, Capra, Valeria, Scala, Marcello, De Marco, Patrizia, Ognibene, Marzia, Jamra, Rami Abou, Platzer, Konrad, Carter, Lauren B., Kuismin, Outi, van Haeringen, Arie, Maroofian, Reza, Valenzuela, Irene, Cuscó, Ivon, Martinez-Agosto, Julian A., Rabani, Ahna M., Mefford, Heather C., Pereira, Elaine M., Close, Charlotte, Anyane-Yeboa, Kwame, Wagner, Mallory, Hannibal, Mark C., Zacher, Pia, Thiffault, Isabelle, Beunders, Gea, Umair, Muhammad, Bhola, Priya T., McGinnis, Erin, Millichap, John, van de Kamp, Jiddeke M., Prijoles, Eloise J., Dobson, Amy, Shillington, Amelle, Graham, Brett H., Garcia, Evan-Jacob, Galindo, Maureen Kelly, Ropers, Fabienne G., Nibbeling, Esther A.R., Hubbard, Gail, Karimov, Catherine, Goj, Guido, Bend, Renee, Rath, Julie, Morrow, Michelle M., Millan, Francisca, Salpietro, Vincenzo, Torella, Annalaura, Nigro, Vincenzo, Kurki, Mitja, Stevenson, Roger E., Santen, Gijs W.E., Zweier, Markus, Campeau, Philippe M., Severino, Mariasavina, Reis, André, Accogli, Andrea, Vasileiou, Georgia

“…Coffin-Siris and Nicolaides-Baraitser syndromes are recognizable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2…”
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Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases by Velde, Hedwig M., Vaseghi-Shanjani, Maryam, Smits, Jeroen J., Ramakrishnan, Gayatri, Oostrik, Jaap, Wesdorp, Mieke, Astuti, Galuh, Yntema, Helger G., Hoefsloot, Lies, Lanting, Cris P., Huynen, Martijn A., Lehman, Anna, Turvey, Stuart E., Pennings, Ronald J. E., Kremer, Hannie

“…Although more than 140 genes have been associated with non-syndromic hereditary hearing loss (HL), at least half of the cases remain unexplained in medical…”
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Assessment of the Clinical Benefit of Imaging in Children With Unilateral Sensorineural Hearing Loss: A Systematic Review and Meta-analysis by Ropers, Fabienne G, Pham, Eveline N B, Kant, Sarina G, Rotteveel, Liselotte J C, Rings, Edmond H H M, Verbist, Berit M, Dekkers, Olaf M

“…Imaging used to determine the cause of unilateral sensorineural hearing loss (USNHL) in children is often justified by the high likelihood of detecting…”
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120 GBd SiGe-Based 2:1 Analog Multiplexer Module for Ultra-Broadband Transmission Systems by Schmidt, C., Tannert, T., Choi, J.H., Caspar, C., Pech, D., Wunsch, S., Ropers, G., Schostak, J., Jungnickel, V., Freund, R., Grozing, M., Berroth, M.

“…A 2:1 analog multiplexer (AMUX) module based on a SiGe-HBT IC is presented. The AMUX module offers a 6-dB analog signal path bandwidth of 61 GHz. We show a 120…”
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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome by van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Brouwer, Alwin F.J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chung, Brain H.Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M.S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N.M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A.L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C.E.H., Calvo, Amparo Sanchis, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P.A., Stumpel, Constance T.R.M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B.A., Clayton-Smith, Jill, Santen, Gijs W.E.

“…The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.)…”
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État des lieux des pratiques d’accompagnement sanitaire et médico-social des personnes avec troubles envahissants du développement (TED) dans trois régions françaises by Rattaz, C., Ledesert, B., Masson, O., Ouss, L., Ropers, G., Baghdadli, A.

“…Cette étude, réalisée dans le cadre du plan autisme 2008–2010, a pour objectif de décrire les pratiques d’accompagnement des personnes avec troubles…”
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Notifiable disease surveillance and practicing physicians by Krause, Gérard, Ropers, Gwendolin, Stark, Klaus

“…Primary care physicians in Germany are essential participants in infectious disease surveillance through mandatory reporting. Feedback on such surveillance…”
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The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis by Colbert, Brett M., Lanting, Cris, Smeal, Molly, Blanton, Susan, Dykxhoorn, Derek M., Tang, Pei-Ciao, Getchell, Richard L., Velde, Hedwig, Fehrmann, Mirthe, Thorpe, Ryan, Chapagain, Prem, Elkhaligy, Heidy, Kremer, Hannie, Yntema, Helger, Haer-Wigman, Lonneke, Redfield, Shelby, Sun, Tieqi, Bruijn, Saskia, Plomp, Astrid, Goderie, Thadé, van de Kamp, Jiddeke, Free, Rolien H., Wassink-Ruiter, Jolien Klein, Widdershoven, Josine, Vanhoutte, Els, Rotteveel, Liselotte, Kriek, Marjolein, van Dooren, Marieke, Hoefsloot, Lies, de Gier, Heriette H. W., Schaefer, Amanda, Kolbe, Diana, Azaiez, Hela, Rabie, Grace, Aburayyan, Armal, Kawas, Mariana, Kanaan, Moien, Holder, Jourdan, Usami, Shin-ichi, Chen, Zhengyi, Dai, Pu, Holt, Jeffrey, Nelson, Rick, Choi, Byung Yoon, Shearer, Eliot, Smith, Richard J. H., Pennings, Ronald, Liu, Xue Zhong

“…TMPRSS3 -related hearing loss presents challenges in correlating genotypic variants with clinical phenotypes due to the small sample sizes of previous studies…”
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La cognition résistante aux changements : une symptomatologie autistique évolutive by Ryff, I., Allan, C., Hummel, M.P., Girard, F., Dugas, A., Ropers, G., Nezelof, S.

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Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant by Smits, Jeroen J., de Bruijn, Suzanne E., Lanting, Cornelis P., Oostrik, Jaap, O’Gorman, Luke, Mantere, Tuomo, Cremers, Frans P. M., Roosing, Susanne, Yntema, Helger G., de Vrieze, Erik, Derks, Ronny, Hoischen, Alexander, Pegge, Sjoert A. H., Neveling, Kornelia, Pennings, Ronald J. E., Kremer, Hannie

“…Pathogenic variants in SLC26A4 have been associated with autosomal recessive hearing loss (arHL) and a unilateral or bilateral enlarged vestibular aqueduct…”
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Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant by Smits, Jeroen J., de Bruijn, Suzanne E., Lanting, Cornelis P., Oostrik, Jaap, O’Gorman, Luke, Mantere, Tuomo, Cremers, Frans P. M., Roosing, Susanne, Yntema, Helger G., de Vrieze, Erik, Derks, Ronny, Hoischen, Alexander, Pegge, Sjoert A. H., Neveling, Kornelia, Pennings, Ronald J. E., Kremer, Hannie

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Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study by Fehrmann, M L A, Huinck, W J, Thijssen, M E G, Haer-Wigman, L, Yntema, H G, Rotteveel, L J C, Widdershoven, J C C, Goderie, T, van Dooren, M F, Hoefsloot, E H, van der Schroeff, M P, Mylanus, E A M, Lanting, C P, Pennings, R J E

“…The spiral ganglion hypothesis suggests that pathogenic variants in genes preferentially expressed in the spiral ganglion nerves (SGN), may lead to poor…”
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Correction: The ARID1B spectrum in 143 patients: fromnonsyndromic intellectual disability to Coffin–Siris syndrome by Jansen, Sandra, Vergano Samantha A, Adachi-Fukuda Miho, Alanay Yasemin, AlKindy Adila, Baban Anwar, Bayat, Allan, Beck-Wödl Stefanie, Berry, Katherine, Bijlsma, Emilia K, Bok, Levinus A, Brouwer Alwin F J, van der Burgt Ineke, Campeau, Philippe M, Canham, Natalie, Chrzanowska Krystyna, Chu Yoyo W Y, Chung Brain H Y, Dahan, Karin, De, Rademaeker Marjan, Destree Anne, Dudding-Byth Tracy, Earl, Rachel, Elcioglu Nursel, Elias, Ellen R, Gardham Alice, Gener Blanca, Gerkes, Erica H, Grasshoff Ute, van Haeringen Arie, Heitink, Karin R, Herkert, Johanna C, den Hollander Nicolette S, Horn, Denise, Hunt, David, Kato Mitsuhiro, Kayserili Hülya, Kersseboom Rogier, Kilic Esra, Krajewska-Walasek Malgorzata, Lammers Kylin, Laulund, Lone W, Lederer, Damien, Lees, Melissa, López-González Vanesa, Maas Saskia, Mancini, Grazia M, Marcelis, Carlo, Martinez, Francisco, Maystadt Isabelle, McGuire, Marianne, McKee, Shane, Mehta Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno Seiji, Moeschler, John B, Netzer, Christian, Ockeloen, Charlotte W, Oehl-Jaschkowitz Barbara, Okamoto Nobuhiko, Olminkhof Sharon N M, Pasquier, Laurent, Pottinger, Caroline, Riehmer Vera, Robertson, Stephen P, Roifman Maian, Rooryck Caroline, Ropers, Fabienne G, Rosello, Monica, Ruivenkamp Claudia A L, Sagiroglu, Mahmut S, Sallevelt Suzanne C E H, Calvo, Amparo Sanchis, Simsek-Kiper, Pelin O, Soares, Gabriela, Solaeche Lucia, Sonmez Fatma Mujgan, Splitt Miranda, Steenbeek Duco, Stegmann Alexander P A, Stumpel Constance T R M, Tanabe Saori, Eyyup, Uctepe, Eda, Utine G, Veenstra-Knol, Hermine E, Venkateswaran Sunita, Vilain Catheline, Vincent-Delorme, Catherine, Wheeler, Patricia, Wilson, Golder N, Wilson, Louise C, Wollnik Bernd, Kosho Tomoki, Wieczorek Dagmar, Eichler, Evan, Rolph, Pfundt, de Vries Bert B A, Clayton-Smith, Jill, Santen Gijs W E

“…The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.)…”
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100GHz Balanced Photodetector Module by Runge, P., Zhou, G., Ganzer, F., Keyvaninia, S., Mutschall, S., Seeger, A., Klotzer, R., Wunsch, S., Ropers, G.

“…We demonstrate a 100GHz balanced photodetector module. Regarding the bandwidth the module exceeds all other state of the art balanced modules. The module…”
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Bactericidal activity of selected antimicrobial agents against Bilophila wadsworthia and Bacteroides gracilis by Baron, E J, Ropers, G, Summanen, P, Courcol, R J

“…Bactericidal assays of Bacteroides gracilis (six strains) and Bilophila wadsworthia (12 strains) in brucella broth with appropriate supplements were performed…”
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