Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome

Autor: Peter J. van der Spek, Joyce M.G. Florisson, Bert B.A. de Vries, Pino J. Poddighe, Bert Eussen, Irene M.J. Mathijssen, Ben A. Oostra, Jeannette A.M. Hoogeboom, Jean Pierre Frijns, Linda Koster, Annelies de Klein, Annemieke J.M.H. Verkerk, Belinda Dumee, Sigrid M. A. Swagemakers

Publikováno v: American Journal of Medical Genetics. Part A, 161A, 2, pp. 244-253
American Journal of Medical Genetics. Part A, 161A, 244-253
American Journal of Medical Genetics Part A, 161A(2), 244-253. Wiley-Liss Inc.

In a screening project of patients with (complex) craniosynostosis using genomic arrays, we identified two patients with craniosynostosis and microcephaly with a deletion in the 2p15p16.1 chromosomal region. This region has been associated with a new

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7471d805f5393effc4dc4982aa05bccf
https://doi.org/10.1002/ajmg.a.35632

Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice

Autor: Kees E. P. van Roozendaal, Constance T.R.M. Schrander-Stumpel, Nicky S.J. Halbach, Marian A. Maaskant, Leopold M. G. Curfs, Jean-Pierre Frijns, Rien Blok, Eric Smeets, Noortje van den Braak

Publikováno v: American Journal of Medical Genetics Part A, 158A(2), 340-350. Wiley

Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurodevelopmental disorder leading to cognitive and motor impairment, epilepsy, and autonomic dysfunction in females. Since the discovery that RTT is caused by mutations in MECP2, large retros

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4b9c40399dac159ab3ef3707313eb98
https://doi.org/10.1002/ajmg.a.34418

Rett syndrome and long-term disorder profile

Autor: Leopold M. G. Curfs, E. Smeets, M.N. Chenault, Connie Schrander-Stumpel, Jean-Pierre Frijns

Publikováno v: American Journal of Medical Genetics Part A. :199-205

In a cohort of 103 females clinically diagnosed with Rett syndrome (RTT), 91 had a detectable MECP2 mutation. Emphasis on details of natural history facilitated grouping of females with the same MECP2 mutation and the development of so-called disorde

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6452dd7d82640b0e9e4e6f2c0b0f745d
https://doi.org/10.1002/ajmg.a.32491

On the variable expression of the Brachmann-de Lange syndrome

Autor: Jean-Pierre Frijns, Constance T.R.M. Schrander-Stumpel, P Theunissen, C.E.M. de Die-Smulders

Publikováno v: Clinical Genetics. 41:42-45

A mother of normal intelligence and her moderately mentally retarded son, both with the typical facial features of the Brachmann-de Lange syndrome, are reported. We discuss the variable expression of the Brachmann-de Lange syndrome by comparing the a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72b4dc78058c4666727b0370c9fc6a2b
https://doi.org/10.1111/j.1399-0004.1992.tb03628.x

MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients

Autor: Demis Tserpelis, Koen Devriendt, Griet Van Buggenhout, Jean-Pierre Frijns, Kees E. P. van Roozendaal, Eric Smeets, Connie Schrander-Stumpel, Ute Moog

Publikováno v: Brain and Development. 28:305-310

Mutations in the methyl-CpG-binding protein 2 (MECP2) gene located on Xq28, cause Rett syndrome (RTT) in female patients. Meanwhile, nonmosaic MECP2 mutations unknown in girls have been found in an increasing number of male patients with a normal 46,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f1bd604a40dbd7a7c64cdeb97552e1b
https://doi.org/10.1016/j.braindev.2005.10.007