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Phenotypic and molecular insights into CASK-related disorders in males.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0256-3
By:
- Moog, Ute;
- Bierhals, Tatjana;
- Brand, Kristina;
- Bautsch, Jan;
- Biskup, Saskia;
- Brune, Thomas;
- Denecke, Jonas;
- de Die-Smulders, Christine E.;
- Evers, Christina;
- Hempel, Maja;
- Henneke, Marco;
- Yntema, Helger;
- Menten, Björn;
- Pietz, Joachim;
- Pfundt, Rolph;
- Schmidtke, Jörg;
- Steinemann, Doris;
- Stumpel, Constance T.;
- Van Maldergem, Lionel;
- Kutsche, Kerstin
Publication type:
Article
Phenotypic and molecular insights into CASK-related disorders in males.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 44, doi. 10.1186/s13023-015-0256-3
By:
- Moog, Ute;
- Bierhals, Tatjana;
- Brand, Kristina;
- Bautsch, Jan;
- Biskup, Saskia;
- Brune, Thomas;
- Denecke, Jonas;
- de Die-Smulders, Christine E;
- Evers, Christina;
- Hempel, Maja;
- Henneke, Marco;
- Yntema, Helger;
- Menten, Björn;
- Pietz, Joachim;
- Pfundt, Rolph;
- Schmidtke, Jörg;
- Steinemann, Doris;
- Stumpel, Constance T;
- Van Maldergem, Lionel;
- Kutsche, Kerstin
Publication type:
Article
Triple X syndrome: Psychiatric disorders and impaired social functioning as a risk factor.
Published in:
European Psychiatry, 2023, v. 66, n. 1, p. 1, doi. 10.1192/j.eurpsy.2022.2355
By:
- Otter, Maarten;
- Campforts, Bea C. M.;
- Stumpel, Constance T. R. M.;
- van Amelsvoort, Thérèse A. M. J.;
- Drukker, Marjan
Publication type:
Article
Tibia hemimelia in a patient with CHARGE syndrome: A rare but recurrent phenomenon.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 1000, doi. 10.1002/ajmg.a.62600
By:
- Aukema, Sietse M.;
- de Geus, Christa M.;
- Robben, Simon G. F.;
- van Kaam, Kim J. A. F.;
- Staal, Heleen M.;
- Witlox, Adhiambo M.;
- de la Haye, Nicole A. J.;
- Klaassens, Merel;
- Coumans, Audrey;
- Stegmann, Alexander P. A.;
- Paley, Dror;
- Stumpel, Constance T. R. M.
Publication type:
Article
Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 219, doi. 10.1002/ajmg.a.60696
By:
- Schott, Dina A.;
- Stumpel, Constance T. R. M.;
- Klaassens, Merel
Publication type:
Article
Growth Pattern in Kabuki Syndrome with a KMT2D Mutation.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3172, doi. 10.1002/ajmg.a.37930
By:
- Schott, Dina A.;
- Blok, Marinus J.;
- Gerver, Willem J. M.;
- Devriendt, Koenraad;
- Zimmermann, Luc J. I.;
- Stumpel, Constance T. R. M.
Publication type:
Article
Body proportions in children with Kabuki syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 610, doi. 10.1002/ajmg.a.37467
By:
- Penders, Bas;
- Schott, Nina;
- Gerver, Willem‐Jan M.;
- Stumpel, Constance T. R. M.
Publication type:
Article
Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view.
Published in:
International Journal of Dermatology, 2008, v. 47, p. 45, doi. 10.1111/j.1365-4632.2008.03960.x
By:
- van der Velden, Jaap J. A. J.;
- Vreeburg, Maaike;
- Smeets, Eric E. J.;
- Schrander-Stumpel, Constance T. R. M.;
- van Steensel, Maurice A. M.
Publication type:
Article
Different distribution of the genetic subtypes of the Prader–Willi syndrome in the elderly.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 9, p. 993, doi. 10.1038/ejhg.2010.67
By:
- Sinnema, Margje;
- van Roozendaal, Kees E. P.;
- Maaskant, Marian A.;
- Smeets, Hubert J. M.;
- Engelen, John J. M.;
- Jonker-Houben, Nieke;
- Schrander-Stumpel, Constance T. R. M.;
- Curfs, Leopold M. G.
Publication type:
Article
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 9, p. 999, doi. 10.1038/ejhg.2010.70
By:
- Paulussen, Aimée D. C.;
- Schrander-Stumpel, Constance T.;
- Tserpelis, Demis C. J.;
- Spee, Matteus K. M.;
- Stegmann, Alexander P. A.;
- Mancini, Grazia M.;
- Brooks, Alice S.;
- Collée, Margriet;
- Maat-Kievit, Anneke;
- Simon, Marleen E. H.;
- van Bever, Yolande;
- Stolte-Dijkstra, Irene;
- Kerstjens-Frederikse, Wilhelmina S.;
- Herkert, Johanna C.;
- van Essen, Anthonie J.;
- Lichtenbelt, Klaske D.;
- van Haeringen, Arie;
- Kwee, Mei L.;
- Lachmeijer, Augusta M. A.;
- Tan-Sindhunata, Gita M. B.
Publication type:
Article
Triple X syndrome: a review of the literature.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 3, p. 265, doi. 10.1038/ejhg.2009.109
By:
- Otter, Maarten;
- Schrander-Stumpel, Constance T. R. M.;
- Curfs, Leopold M. G.
Publication type:
Article
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.
Published in:
Clinical Genetics, 2022, v. 101, n. 2, p. 183, doi. 10.1111/cge.14076
By:
- Stevens, Servi J. C.;
- Stumpel, Constance T. R. M.;
- Diderich, Karin E. M.;
- van Slegtenhorst, Marjon A.;
- Abbott, Mary‐Alice;
- Manning, Courtney;
- Balciuniene, Jorune;
- Pyle, Louise C.;
- Leonard, Jacqueline;
- Murrell, Jill R.;
- van de Putte, Romy;
- van Rooij, Iris A. L. M.;
- Hoischen, Alexander;
- Lasko, Paul;
- Brunner, Han G.
Publication type:
Article
The adult phenotype of Schaaf-Yang syndrome.
Published in:
2020
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
Publication type:
journal article
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development.
Published in:
2018
By:
- Mitter, Diana;
- Lemke, Johannes R.;
- Platzer, Konrad;
- Jamra, Rami;
- Ploos van Amstel, Hans K.;
- van der Smagt, Jasper J.;
- Stegmann, Alexander P. A.;
- Stumpel, Constance T. R. M.;
- Stevens, Servi J. C.;
- Oberndorff, Katrin;
- Marcelis, Carlo L.;
- Cogné, Benjamin;
- Vincent, Marie;
- Simonic, Ingrid;
- Hague, Jennifer;
- Park, Soo‐Mi;
- Park, Soo-Mi
Publication type:
journal article
Resting-state functional connectivity in adults with 47,XXX: a 7 Tesla MRI study.
Published in:
Cerebral Cortex, 2023, v. 33, n. 9, p. 5210, doi. 10.1093/cercor/bhac410
By:
- Serrarens, Chaira;
- Kashyap, Sriranga;
- Riveiro-Lago, Laura;
- Otter, Maarten;
- Campforts, Bea C M;
- Stumpel, Constance T R M;
- Jansma, Henk;
- Linden, David E J;
- Amelsvoort, Thérèse A M J van;
- Vingerhoets, Claudia
Publication type:
Article
Altered subcortical and cortical brain morphology in adult women with 47,XXX: a 7-Tesla magnetic resonance imaging study.
Published in:
Journal of Neurodevelopmental Disorders, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s11689-022-09425-1
By:
- Serrarens, Chaira;
- Otter, Maarten;
- Campforts, Bea C. M.;
- Stumpel, Constance T. R. M.;
- Jansma, Henk;
- van Amelsvoort, Thérèse A. M. J.;
- Vingerhoets, Claudia
Publication type:
Article
Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes.
Published in:
Familial Cancer, 2023, v. 22, n. 1, p. 103, doi. 10.1007/s10689-022-00306-z
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.
Publication type:
Article
Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion.
Published in:
Acta Neuropathologica, 2024, v. 147, n. 1, p. 1, doi. 10.1007/s00401-024-02714-0
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
Publication type:
Article
DTYMK is essential for genome integrity and neuronal survival.
Published in:
Acta Neuropathologica, 2022, v. 143, n. 2, p. 245, doi. 10.1007/s00401-021-02394-0
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.
Publication type:
Article
Intracortical myelin across laminae in adult individuals with 47,XXX: a 7 Tesla MRI study.
Published in:
Cerebral Cortex, 2024, v. 34, n. 8, p. 1, doi. 10.1093/cercor/bhae343
By:
- Serrarens, Chaira;
- Ruiz-Fernandez, Julia;
- Otter, Maarten;
- Campforts, Bea C M;
- Stumpel, Constance T R M;
- Linden, David E J;
- Amelsvoort, Therese A M J van;
- Kashyap, Sriranga;
- Vingerhoets, Claudia
Publication type:
Article

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