Search Results - "Ockeloen, C. W."

Tooth agenesis and orofacial clefting: genetic brothers in arms? by Phan, M., Conte, F., Khandelwal, K. D., Ockeloen, C. W., Bartzela, T., Kleefstra, T., van Bokhoven, H., Rubini, M., Zhou, H., Carels, C. E. L.

“…Tooth agenesis and orofacial clefts represent the most common developmental anomalies and their co-occurrence is often reported in patients as well in animal…”
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‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes by Bramswig, Nuria C., Ockeloen, C. W., Czeschik, J. C., van Essen, A. J., Pfundt, R., Smeitink, J., Poll-The, B. T., Engels, H., Strom, T. M., Wieczorek, D., Kleefstra, T., Lüdecke, H.-J.

“…KCNH1 mutations have recently been described in six individuals with Temple–Baraitser syndrome (TMBTS) and six individuals with Zimmermann–Laband syndrome…”
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Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment by Reynaert, Nele, Ockeloen, C W, Sävendahl, L, Beckers, D, Devriendt, K, Kleefstra, T, Carels, C E L, Grigelioniene, G, Nordgren, A, Francois, I, de Zegher, F, Casteels, K

“…KBG syndrome is a rare disorder characterized by intellectual disability and associated with macrodontia of the upper central incisors, specific craniofacial…”
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Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome by Feberwee, H.E., Feenstra, I., Oberoi, S., Sama, I.E., Ockeloen, C.W., Clum, F., Slavotinek, A., Kuijpers, M.A.R., Dooijes, D., Kuijpers-Jagtman, A.M., Kleefstra, T., Carels, C.E.L.

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Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications by Wincent, J., Bruno, D.L., van Bon, B.W.M., Bremer, A., Stewart, H., Bongers, E.M.H.F., Ockeloen, C.W., Willemsen, M.H., Keays, D.A.D., Baird, G., Newbury, D.F., Kleefstra, T., Marcelis, C., Kini, U., Stark, Z., Savarirayan, R., Sheffield, L.J., Zuffardi, O., Slater, H.R., de Vries, B.B., Knight, S.J.L., Anderlid, B.-M., Schoumans, J.

“…The chromosome region 22q11.2 has long been recognized to be susceptible to genomic rearrangement. More recently, this genomic instability has been shown to…”
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Congenital myopathy caused by a novel missense mutation in the CFL2 gene by Ockeloen, C.W, Gilhuis, H.J, Pfundt, R, Kamsteeg, E.J, Agrawal, P.B, Beggs, A.H, Dara Hama-Amin, A, Diekstra, A, Knoers, N.V.A.M, Lammens, M, van Alfen, N

“…Abstract Nemaline myopathy and myofibrillar myopathy are heterogeneous myopathies that both comprise early-onset forms. We present two sisters from a…”
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Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance by Tooze, Rebecca S., Miller, Kerry A., Swagemakers, Sigrid M.A., Calpena, Eduardo, McGowan, Simon J., Boute, Odile, Collet, Corinne, Johnson, David, Laffargue, Fanny, de Leeuw, Nicole, Morton, Jenny V., Noons, Peter, Ockeloen, Charlotte W., Phipps, Julie M., Tan, Tiong Yang, Timberlake, Andrew T., Vanlerberghe, Clemence, Wall, Steven A., Weber, Astrid, Wilson, Louise C., Zackai, Elaine H., Mathijssen, Irene M.J., Twigg, Stephen R.F., Wilkie, Andrew O.M.

“…Studies have previously implicated PRRX1 in craniofacial development, including demonstration of murine Prrx1 expression in the preosteogenic cells of the…”
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Velopharyngeal insufficiency: high detection rate of genetic abnormalities if associated with additional features by Ockeloen, Charlotte W, Simpson, Jennifer, Urquhart, Jill, Davies, Julie, Bowden, Melanie, Patrick, Kathryn, Dore, Jonathan, Clayton-Smith, Jill

“…Objective To review the clinical and molecular-genetic characteristics of 34 children who were referred to the clinical genetics department with a presenting…”
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Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations by Ockeloen, Charlotte W, Willemsen, Marjolein H, de Munnik, Sonja, van Bon, Bregje W M, de Leeuw, Nicole, Verrips, Aad, Kant, Sarina G, Jones, Elizabeth A, Brunner, Han G, van Loon, Rosa L E, Smeets, Eric E J, van Haelst, Mieke M, van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas J J, van Heumen, Celeste C, Yntema, Helger G, Carels, Carine E L, Kleefstra, Tjitske

“…Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental, neurobehavioural,…”
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Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion by Klopocki, Eva, Lohan, Silke, Doelken, Sandra C, Stricker, Sigmar, Ockeloen, Charlotte W, Soares Thiele de Aguiar, Renata, Lezirovitz, Karina, Mingroni Netto, Regina Celia, Jamsheer, Aleksander, Shah, Hitesh, Kurth, Ingo, Habenicht, Rolf, Warman, Matthew, Devriendt, Koenraad, Kordass, Ulrike, Hempel, Maja, Rajab, Anna, Mäkitie, Outi, Naveed, Mohammed, Radhakrishna, Uppala, Antonarakis, Stylianos E, Horn, Denise, Mundlos, Stefan

“…Split-hand/foot malformation (SHFM)-also known as ectrodactyly-is a congenital disorder characterised by severe malformations of the distal limbs affecting the…”
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P3.47 Nemaline myopathy caused by a novel missense mutation in the CFL2 gene by Ockeloen, C.W, Gilhuis, H.J, Pfundt, R, Kamsteeg, E.J, Beggs, A.H, Dara-Hama Amin, A, Knoers, V.V.A, Lammens, M, Alfen, N

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Isolated arterial calcifications of the lower extremities: A clue for NT5E mutation by de Nijs, Tjerk, Albuisson, Juliette, Ockeloen, Charlotte W, Legrand, Anne, Jeunemaitre, Xavier, Kool, Leo J. Schultze, Riksen, Niels P

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Further delineation of the KBG syndrome caused by ANKRD11 aberrations by Ockeloen, Charlotte W, Willemsen, Marjolein H, de Munnik, Sonja, van Bon, Bregje W M, de Leeuw, Nicole, Verrips, Aad, Kant, Sarina G, Jones, Elizabeth A, Brunner, Han G, van Loon, Rosa L E, Smeets, Eric E J, van Haelst, Mieke M, van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas J J, van Heumen, Celeste C, Yntema, Helger G, Carels, Carine E L, Kleefstra, Tjitske

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Solitary median maxillary central incisor syndrome by Scholtes, E, Kawamoto, T, Ockeloen, C W, Kleefstra, T, Carels, C E L

“…Solitary Median Maxillary Central Incisor syndrome is a rare condition (prevalence 1:50,000), with the characteristic dental feature of a solitary central…”
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Tooth eruption disturbances and syndromes by Oosterkamp, B C M, Ockeloen, C W, Carels, C E L, Kuijpers-Jagtman, A M

“…In the tooth eruption mechanism, various disturbances can appear as a result of gene mutations, a consequence of which can be that tooth eruption does not…”
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Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome by Feberwee, H E, Feenstra, I, Oberoi, S, Sama, I E, Ockeloen, C W, Clum, F, Slavotinek, A, Kuijpers, M A R, Dooijes, D, Kuijpers-Jagtman, A M, Kleefstra, T, Carels, C E L

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