Search Results - "Stumpel Constance T R M"

Triple X syndrome: Psychiatric disorders and impaired social functioning as a risk factor by Otter, Maarten, Campforts, Bea C M, Stumpel, Constance T R M, van Amelsvoort, Thérèse A M J, Drukker, Marjan

“…Women with triple X syndrome (TXS) have an extra X chromosome. TXS appeared to be associated with psychiatric disorders in biased or underpowered studies. This…”
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The adult phenotype of Schaaf-Yang syndrome by Marbach, Felix, Elgizouli, Magdeldin, Rech, Megan, Beygo, Jasmin, Erger, Florian, Velmans, Clara, Stumpel, Constance T. R. M, Stegmann, Alexander P. A, Beck-Wödl, Stefanie, Gillessen-Kaesbach, Gabriele, Horsthemke, Bernhard, Schaaf, Christian P, Kuechler, Alma

“…MAGEL2-associated Schaaf-Yang syndrome (SHFYNG, OMIM #615547, ORPHA: 398069), which was identified in 2013, is a rare disorder caused by truncating variants of…”
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Altered subcortical and cortical brain morphology in adult women with 47,XXX: a 7-Tesla magnetic resonance imaging study by Serrarens, Chaira, Otter, Maarten, Campforts, Bea C M, Stumpel, Constance T R M, Jansma, Henk, van Amelsvoort, Thérèse A M J, Vingerhoets, Claudia

“…Triple X syndrome (47,XXX) is a relatively common sex chromosomal aneuploidy characterized by the presence of a supernumerary X chromosome in females and has…”
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Social functioning and emotion recognition in adults with triple X syndrome by Otter, Maarten, Crins, Peter M. L., Campforts, Bea C. M., Stumpel, Constance T. R. M., van Amelsvoort, Thérèse A. M. J., Vingerhoets, Claudia

“…Triple X syndrome (TXS) is caused by aneuploidy of the X chromosome and is associated with impaired social functioning in children; however, its effect on…”
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Triple X syndrome: a review of the literature by OTTER, Maarten, SCHRANDER-STUMPEL, Constance T. R. M, CURFS, Leopold M. G

“…The developmental and clinical aspects in the literature on triple X syndrome are reviewed. Prenatal diagnosis depends on karyotyping. The incidence is 1 of…”
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The C20orf133 gene is disrupted in a patient with Kabuki syndrome by Maas, Nicole, Van de Putte, Tom, Melotte, Cindy, Francis, Annick, Schrander-Stumpel, Constance TRM, Sanlaville, Damien, Genevieve, David, Lyonnet, Stanislas, Dimitrov, Boyan, Devriendt, Koenraad, Fryns, Jean-Pierre, Vermeesch, Joris

“…Introduction: The Kabuki syndrome (KS) is a rare clinically recognizable congenital mental retardation syndrome. The aetiology of KS remains unknown. Methods:…”
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Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion by Correa-da-Silva, Felipe, Carter, Jenny, Wang, Xin-Yuan, Sun, Rui, Pathak, Ekta, Kuhn, José Manuel Monroy, Schriever, Sonja C., Maya-Monteiro, Clarissa M., Jiao, Han, Kalsbeek, Martin J., Moraes-Vieira, Pedro M. M., Gille, Johan J. P., Sinnema, Margje, Stumpel, Constance T. R. M., Curfs, Leopold M. G., Stenvers, Dirk Jan, Pfluger, Paul T., Lutter, Dominik, Pereira, Alberto M., Kalsbeek, Andries, Fliers, Eric, Swaab, Dick F., Wilkinson, Lawrence, Gao, Yuanqing, Yi, Chun-Xia

“…Prader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder of genetic etiology, characterized by paternal deletion of genes located at chromosome 15 in…”
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DTYMK is essential for genome integrity and neuronal survival by Vanoevelen, Jo M., Bierau, Jörgen, Grashorn, Janine C., Lambrichs, Ellen, Kamsteeg, Erik-Jan, Bok, Levinus A., Wevers, Ron A., van der Knaap, Marjo S., Bugiani, Marianna, Frisk, Junmei Hu, Colnaghi, Rita, O’Driscoll, Mark, Hellebrekers, Debby M. E. I., Rodenburg, Richard, Ferreira, Carlos R., Brunner, Han G., van den Wijngaard, Arthur, Abdel-Salam, Ghada M. H., Wang, Liya, Stumpel, Constance T. R. M.

“…Nucleotide metabolism is a complex pathway regulating crucial cellular processes such as nucleic acid synthesis, DNA repair and proliferation. This study shows…”
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Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment by Schott, Dina A., Stumpel, Constance T. R. M., Klaassens, Merel

“…Kabuki syndrome (KS) is a multiple congenital malformation syndrome which has been described across all ethnic groups. Most KS patients possess two genetic…”
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Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience by Vernimmen, Vivian, Paulussen, Aimée D C, Dreesen, Jos C F M, van Golde, Ron J, Zamani Esteki, Masoud, Coonen, Edith, van Buul-van Zwet, Marianne L, Homminga, Irene, Derijck, Alwin A H A, Brandts, Lloyd, Stumpel, Constance T R M, de Die-Smulders, Christine E M

“…Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that affects the skin and the nervous system. The condition is completely penetrant with…”
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The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene by Stevens, Servi J. C., Stumpel, Constance T. R. M., Diderich, Karin E. M., Slegtenhorst, Marjon A., Abbott, Mary‐Alice, Manning, Courtney, Balciuniene, Jorune, Pyle, Louise C., Leonard, Jacqueline, Murrell, Jill R., Putte, Romy, Rooij, Iris A. L. M., Hoischen, Alexander, Lasko, Paul, Brunner, Han G.

“…The caudal type homeobox 2 (CDX2) gene encodes a developmental regulator involved in caudal body patterning. Only three pathogenic variants in human CDX2 have…”
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Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes by Aukema, Sietse M., Glaser, Selina, van den Hout, Mari F. C. M., Dahlum, Sonja, Blok, Marinus J., Hillmer, Morten, Kolarova, Julia, Sciot, Raf, Schott, Dina A., Siebert, Reiner, Stumpel, Constance T. R. M.

“…Kabuki syndrome is a well-recognized syndrome characterized by facial dysmorphism and developmental delay/intellectual disability and in the majority of…”
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MLL2 mutation spectrum in 45 patients with Kabuki syndrome by Paulussen, Aimée D.C, Stegmann, Alexander P.A, Blok, Marinus J, Tserpelis, Demis, Posma-Velter, Crool, Detisch, Yvonne, Smeets, Eric E.J.G.L, Wagemans, Annemieke, Schrander, Jaap J.P, van den Boogaard, Marie-José H, van der Smagt, Jasper, van Haeringen, Arie, Stolte-Dijkstra, Irene, Kerstjens-Frederikse, Wilhelmina S, Mancini, Grazia M, Wessels, Marja W, Hennekam, Raoul C.M, Vreeburg, Maaike, Geraedts, Joep, de Ravel, Thomy, Fryns, Jean-Pierre, Smeets, Hubert J, Devriendt, Koenraad, Schrander-Stumpel, Constance T.R.M

“…Kabuki Syndrome (KS) is a rare syndrome characterized by intellectual disability and multiple congenital abnormalities, in particular a distinct dysmorphic…”
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Tibia hemimelia in a patient with CHARGE syndrome: A rare but recurrent phenomenon by Aukema, Sietse M., Geus, Christa M., Robben, Simon G. F., Kaam, Kim J. A. F., Staal, Heleen M., Witlox, Adhiambo M., Haye, Nicole A. J., Klaassens, Merel, Coumans, Audrey, Stegmann, Alexander P. A., Paley, Dror, Stumpel, Constance T. R. M.

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Physical health problems in adults with Prader-Willi syndrome by Sinnema, Margje, Maaskant, Marian A., van Schrojenstein Lantman-de Valk, Henny M.J., Caroline van Nieuwpoort, I., Drent, Madeleine L., Curfs, Leopold M.G., Schrander-Stumpel, Constance T.R.M.

“…Prader–Willi syndrome (PWS) is a genetic disorder which is characterized by severe hypotonia and feeding problems in early infancy. In later childhood and…”
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Psychiatric illness in a cohort of adults with Prader-Willi syndrome by Sinnema, Margje, Boer, Harm, Collin, Philippe, Maaskant, Marian A., van Roozendaal, Kees E.P., Schrander-Stumpel, Constance T.R.M., Curfs, Leopold M.G.

“…► Psychiatric illness is highly prevalent in adults with PWS. ► 17% with a deletion and 64% with mUPD were diagnosed with a psychiatric illness. ► Depressive…”
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Behavioral phenotype in adults with Prader–Willi syndrome by Sinnema, Margje, Einfeld, Stewart L., Schrander-Stumpel, Constance T.R.M., Maaskant, Marian A., Boer, Harm, Curfs, Leopold M.G.

“…▶ No diminishment of behavioral problems in older adults with PWS. ▶ More behavioral problems in PWS adults with mUPD compared with deletion. ▶ More behavioral…”
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Aging in Prader-Willi syndrome: Twelve persons over the age of 50 years by Sinnema, Margje, Schrander-Stumpel, Constance T.R.M., Maaskant, Marian A., Boer, Harm, Curfs, Leopold M.G.

“…The life expectancy of persons with Prader–Willi syndrome (PWS) has increased in recent years. Because of the paucity of reports on older persons with PWS, the…”
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Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice by Halbach, Nicky S.J., Smeets, Eric E.J., van den Braak, Noortje, van Roozendaal, Kees E.P., Blok, Rien M.J., Schrander-Stumpel, Constance T.R.M., Frijns, Jean-Pierre, Maaskant, Marian A., Curfs, Leopold M.G.

“…Rett syndrome (RTT; OMIM 312750) is an X‐linked dominant neurodevelopmental disorder leading to cognitive and motor impairment, epilepsy, and autonomic…”
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Intracortical myelin across laminae in adult individuals with 47,XXX: a 7 Tesla MRI study by Serrarens, Chaira, Ruiz-Fernandez, Julia, Otter, Maarten, Campforts, Bea C M, Stumpel, Constance T R M, Linden, David E J, van Amelsvoort, Therese A M J, Kashyap, Sriranga, Vingerhoets, Claudia

“…Abstract 47,XXX (Triple X syndrome) is a sex chromosome aneuploidy characterized by the presence of a supernumerary X chromosome in affected females and is…”
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