C. T. R. M. Schrander‐Stumpel

Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder Open

Sonja A. de Munnik, Barto J. Otten, Jeroen Schoots, Louise S. Bicknell, Salim Aftimos , et al. · 2012

Meier–Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by primordial dwarfism, microtia, and patellar aplasia/hypoplasia. Recently, mutations in the ORC1 , ORC4 , ORC6 , CDT1 , and CDC6 genes, encoding components …

The psychiatric phenotype in triple X syndrome: New hypotheses illustrated in two cases Open

Maarten Otter, C. T. R. M. Schrander‐Stumpel, Robert Didden, Leopold Curfs · 2012

Gene-environment interactions and ongoing atypical development in adults should be taken into account in research concerning the psychiatric phenotype of developmental disorders, especially those involving triple X syndrome.

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis Open

Sonja A. de Munnik, Louise S. Bicknell, Salim Aftimos, Jumana Y. Al‐Aama, Yolande van Bever , et al. · 2012

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD Open

Marjolijn Renard, Bert Callewaert, Machteld Baetens, Laurence Campens, Kay MacDermot , et al. · 2011

Behavioral phenotype in adults with Prader–Willi syndrome Open

Margje Sinnema, Stewart Einfeld, C. T. R. M. Schrander‐Stumpel, Marian A. Maaskant, Harm Boer , et al. · 2011

MLL2 mutation spectrum in 45 patients with Kabuki syndrome Open

Aimée Paulussen, Alexander P.A. Stegmann, Marinus J. Blok, Demis Tserpelis, Crool Posma-Velter , et al. · 2010

Kabuki Syndrome (KS) is a rare syndrome characterized by intellectual disability and multiple congenital abnormalities, in particular a distinct dysmorphic facial appearance. KS is caused by mutations in the MLL2 gene, encoding an H3K4 his…

815 Neonatal Presentation of Ehlers-Danlos Type Vii: Diagnostic Considerations Open

Merel Klaassens, Yvonne Hilhorst‐Hofstee, Heleen M. Staal, L Speth, J. J. P. Schrander , et al. · 2010

Sleep disturbances and behavioural problems in adults with Prader–Willi syndrome Open

A.P.H.M. Maas, Margje Sinnema, Robert Didden, M. A. Maaskant, Marcel G. Smits , et al. · 2010

Background Individuals with Prader–Willi syndrome (PWS) are at risk of sleep disturbances, such as excessive daytime sleepiness (EDS) and sleep apnoea, and behavioural problems. Sleep disturbances and their relationship with other variable…

Different distribution of the genetic subtypes of the Prader–Willi syndrome in the elderly Open

Margje Sinnema, Kees E. P. van Roozendaal, Marian A. Maaskant, H. J. M. Smeets, J.J.M. Engelen , et al. · 2010

Genotype–phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis Open

Yvonne J. Vos, Hermien E. K. de Walle, K. K. Bos, Arjan Stegeman, Annelies M. ten Berge , et al. · 2009

Objectives To develop a comprehensive mutation analysis system with a high rate of detection, to develop a tool to predict the chance of detecting a mutation in the L1CAM gene, and to look for genotype–phenotype correlations in the X-linke…

Triple X syndrome: a review of the literature Open

Maarten Otter, C. T. R. M. Schrander‐Stumpel, Leopold Curfs · 2009

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31 Open

Christian Beetz, Rebecca Schüle, Tine Deconinck, Khanh-Nhat Tran-Viet, Hui Zhu , et al. · 2008

Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31. In a large collaborative effort, we screened a sample of 535 unrelated…

Shprintzen‐Goldberg syndrome associated with a novel missense mutation in <i>TGFBR2</i> Open

Maurice A. M. Van Steensel, Michel van Geel, Lizelotte J. M. T. Parren, C. T. R. M. Schrander‐Stumpel, D. Marcus‐Soekarman · 2007

Shprintzen‐Goldberg syndrome (SGS) is a rare disorder characterized by a Marfan‐like habitus, mental retardation and craniosynostosis. Cardiac abnormalities, such as aortic root dilation have also been noted as well as several skeletal abn…

Mosaic trisomy 11p in monozygotic twins with discordant clinical phenotypes Open

D. Marcus‐Soekarman, Guus Hamers, S. Velzeboer, J.G. Nijhuis, W.H. Loneus , et al. · 2003

We report on monozygotic (MZ) twins with a de novo mos 46,XX,der(15)t(11;15)(p12;p11.2)/46,XX karyotype varying in different tissues. The clinical presentation and findings at the cytogenetic level are described. One of the infants had def…

Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients Open

Anne Slavotinek, Charles Searby, Lihadh Al‐Gazali, Raoul C. M. Hennekam, C. T. R. M. Schrander‐Stumpel , et al. · 2002

Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia? Open

Ute Moog, P Maroteaux, C. T. R. M. Schrander‐Stumpel, A van Ooij, Jaap J.P. Schrander , et al. · 1999

We report a 6 year old boy with multiple fractures owing to bilateral, peculiar, wave-like defects of the tibial corticalis with alternative hyperostosis and thinning. Furthermore, he had Wormian bones of the skull, dentinogenesis imperfec…

Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family. Open

Senno Verhoef, C. T. R. M. Schrander‐Stumpel, Vojislav D. Vuzevski, A.M.P. Tempelaars, L.A.M. Jansen , et al. · 1998

A large Dutch family had been known for many years to be affected with skin tumours labelled as adenoma sebaceum, which were inherited in an autosomal dominant fashion. Since this skin sign is considered pathognomonic for tuberous sclerosi…

PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida. Open

Frans A. Hol, M.P.A. Geurds, Sansnee Chatkupt, Yin Yao Shugart, Rudi Balling , et al. · 1996

From studies in the mouse and from the clinical and molecular analysis of patients with type 1 Waardenburg syndrome, particular members of the PAX gene family are suspected factors in the aetiology of human neural tube defects (NTD). To in…

Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis. Open

C. T. R. M. Schrander‐Stumpel, C Höweler, A D Reekers, N M De Smet, Judith G. Hall , et al. · 1993

Arthrogryposis multiplex congenita is a heterogeneous condition and many different types are clinically recognisable. Recently, a new type of autosomal dominant arthrogryposis was described in a father and son. We report on a male patient …

Oculoauriculovertebral spectrum and cerebral anomalies. Open

C. T. R. M. Schrander‐Stumpel, C E de Die-Smulders, Raoul C. M. Hennekam, J. P. Fryns, P. X. J. M. Bouckaert , et al. · 1992

We report on three Dutch children with a clinical diagnosis of oculoauriculovertebral spectrum (OAVS) and hydrocephalus. The clinical features are compared to 15 published cases of OAVS and hydrocephalus. Several other cerebral abnormaliti…

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