Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome von Boot, Erik, Linders, Cathelijne C., Tromp, Sterre H., Boogaard, Marie‐José, Eeghen, Agnies M.

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Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia von Massink, Maarten P.G., Créton, Marijn A., Spanevello, Francesca, Fennis, Willem M.M., Cune, Marco S., Savelberg, Sanne M.C., Nijman, Isaäc J., Maurice, Madelon M., van den Boogaard, Marie-José H., van Haaften, Gijs

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Mutations in WNT10A are present in more than half of isolated hypodontia cases von van den Boogaard, Marie-José, Créton, Marijn, Bronkhorst, Yvon, van der Hout, Annemieke, Hennekam, Eric, Lindhout, Dick, Cune, Marco, Ploos van Amstel, Hans Kristian

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HNRNPH1‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome von Reichert, Sara C., Li, Rachel, Turner, Scott, Jaarsveld, Richard H., Massink, Maarten P.G., Boogaard, Marie‐José H., Toro, Mireia, Rodríguez‐Palmero, Agustí, Fourcade, Stéphane, Schlüter, Agatha, Planas‐Serra, Laura, Pujol, Aurora, Iascone, Maria, Maitz, Silvia, Loong, Lucy, Stewart, Helen, De Franco, Elisa, Ellard, Sian, Frank, Julie, Lewandowski, Raymond

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Mortality in Robin sequence: identification of risk factors von Logjes, Robrecht J. H., Haasnoot, Maartje, Lemmers, Petra M. A., Nicolaije, Mike F. A., van den Boogaard, Marie-José H., Mink van der Molen, Aebele B., Breugem, Corstiaan C.

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A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated? von Maarse, Wies, Rozendaal, Anna Maria, Pajkrt, Eva, Vermeij-Keers, Christl, Mink van der Molen, Aebele Barber, van den Boogaard, Marie-José Henriëtte

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Deletions and loss-of-function variants in TP63 associated with orofacial clefting von Khandelwal, Kriti D, van den Boogaard, Marie-José H, Mehrem, Sarah L, Gebel, Jakob, Fagerberg, Christina, van Beusekom, Ellen, van Binsbergen, Ellen, Topaloglu, Ozan, Steehouwer, Marloes, Gilissen, Christian, Ishorst, Nina, van Rooij, Iris A L M, Roeleveld, Nel, Christensen, Kaare, Schoenaers, Joseph, Bergé, Stefaan, Murray, Jeffrey C, Hens, Greet, Devriendt, Koen, Ludwig, Kerstin U, Mangold, Elisabeth, Hoischen, Alexander, Zhou, Huiqing, Dötsch, Volker, Carels, Carine E L, van Bokhoven, Hans

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MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability von Ylikallio, Emil, Woldegebriel, Rosa, Tumiati, Manuela, Isohanni, Pirjo, Ryan, Monique M, Stark, Zornitza, Walsh, Maie, Sawyer, Sarah L, Bell, Katrina M, Oshlack, Alicia, Lockhart, Paul J, Shcherbii, Mariia, Estrada-Cuzcano, Alejandro, Atkinson, Derek, Hartley, Taila, Tetreault, Martine, Cuppen, Inge, van der Pol, W Ludo, Candayan, Ayse, Battaloglu, Esra, Parman, Yesim, van Gassen, Koen L I, van den Boogaard, Marie-José H, Boycott, Kym M, Kauppi, Liisa, Jordanova, Albena, Lönnqvist, Tuula, Tyynismaa, Henna

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Concurrent de novo ZFHX4 variant and 16q24.1 deletion in a patient with orofacial clefting; a potential role of ZFHX4 and USP10 von Créton, Marijn, Wagener, Frank, Massink, Maarten, Fennis, Willem, Bloemen, Marjon, Schols, Jan, Aarts, Miranda, Molen, Aebele Mink, Haaften, Gijs, Boogaard, Marie José

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Gastrointestinal symptoms in patients with isolated oligodontia and a Wnt gene mutation von Ross, Jamila N., Ruigrok, Lisanne C., Fennis, Willem M.M., Cune, Marco S., Rosenberg, Antoine J.W.P., van Nunen, Annick B., Créton, Marijn A., Ploos van Amstel, Hans‐Kristian, van den Boogaard, Marie‐José J.H.

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Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content von Woldegebriel, Rosa, Kvist, Jouni, Andersson, Noora, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H, Bijlsma, Emilia K, Hoffer, Mariëtte J V, Ryan, Monique M, Stark, Zornitza, Walsh, Maie, Cuppen, Inge, van den Boogaard, Marie-Jose´ H, Bharucha-Goebel, Diana, Donkervoort, Sandra, Winchester, Sara, Zori, Roberto, Bönnemann, Carsten G, Maroofian, Reza, O’Connor, Emer, Houlden, Henry, Zhao, Fang, Carpén, Olli, White, Matthew, Sreedharan, Jemeen, Stewart, Murray, Ylikallio, Emil, Tyynismaa, Henna

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MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans von Dorland, Marinus, van Amstel, Hans Kristian Ploos, Beemer, Frits A, van den Boogaard, Marie-José H

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Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant von Linders, Cathelijne C., van Eeghen, Agnies M., Zinkstok, Janneke R., van den Boogaard, Marie-José, Boot, Erik

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Birth prevalence of Robin sequence in the Netherlands from 2000-2010: a retrospective population-based study in a large Dutch cohort and review of the literature von Paes, Emma C., van Nunen, Daan P. F., Basart, Hanneke, Don Griot, J. Peter W., van Hagen, Johanna M., van der Horst, Chantal M. A. M., van den Boogaard, Marie-José H., Breugem, Corstiaan C.

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Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three‐generation clinical report von Ross, Jamila, Fennis, Willem, Leeuw, Nicole, Cune, Marco, Willemze, Annemieke, Rosenberg, Antoine, Ploos van Amstel, Hans‐Kristian, Créton, Marijn, Boogaard, Marie‐José

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Microtia in the Netherlands: Clinical characteristics and associated anomalies von van Nunen, Daan P.F, Kolodzynski, Mischka N, van den Boogaard, Marie-José H, Kon, Moshe, Breugem, Corstiaan C

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Clinical Practice Guidelines on the Treatment of Patients with Cleft Lip, Alveolus, and Palate: An Executive Summary von Mink van der Molen, Aebele B., van Breugel, Johanna M. M., Janssen, Nard G., Admiraal, Ronald J. C., van Adrichem, Leon N. A., Bierenbroodspot, Frank, Bittermann, Dirk, van den Boogaard, Marie-José H., Broos, Pieter H., Dijkstra-Putkamer, Janet J. M., van Gemert-Schriks, Martine C. M., Kortlever, Andrea L. J., Mouës-Vink, Chantal M., Swanenburg de Veye, Henriette F. N., van Tol-Verbeek, Nanouk, Vermeij-Keers, Christl, de Wilde, Hester, Kuijpers-Jagtman, Anne Marie

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Genetic outcomes in children with developmental language disorder: a systematic review von van Wijngaarden, Vivian, de Wilde, Hester, Mink van der Molen, Dieuwke, Petter, Jildo, Stegeman, Inge, Gerrits, Ellen, Smit, Adriana L, van den Boogaard, Marie-José

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Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome) von Monroe, Glen R, Kappen, Isabelle Fpm, Stokman, Marijn F, Terhal, Paulien A, van den Boogaard, Marie-José H, Savelberg, Sanne Mc, van der Veken, Lars T, van Es, Robert Jj, Lens, Susanne M, Hengeveld, Rutger C, Creton, Marijn A, Janssen, Nard G, Mink van der Molen, Aebele B, Ebbeling, Michelle B, Giles, Rachel H, Knoers, Nine V, van Haaften, Gijs

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Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands von Wurfbain, Lisca Florence, Cox, Inge Lucia, van Dooren, Maria Francisca, Lachmeijer, Augusta Maria Antonia, Verhoeven, Virginie Johanna Maria, van Hagen, Johanna Maria, Heijligers, Malou, Klein Wassink - Ruiter, Jolien Sietske, Koene, Saskia, Maas, Saskia Mariska, Veenstra - Knol, Hermine Elisabeth, Ploos van Amstel, Johannes Kristian, Massink, Maarten Pieter Gerrit, Mink van der Molen, Aebele Barber, van den Boogaard, Marie-José Henriette

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