H. Yntema

Eur J Hum Genet

D. Lugtenberg, T. Kleefstra, A. Oudakker, W. Nillesen et autres

Duplications in Xq28 involving MECP2 have been described in patients with severe mental retardation, infantile hypotonia, progressive spasticity, and recurrent infections. However, it is not yet clear to what extent these and accompanying symptoms may vary. In addition, the frequency of Xq28 …

Hum mut

A. Brouwer, H. Yntema, T. Kleefstra, D. Lugtenberg et autres

The EuroMRX family cohort consists of about 400 families with non-syndromic and 200 families with syndromic X-linked mental retardation (XLMR). After exclusion of Fragile X (Fra X) syndrome, probands from these families were tested for mutations in the coding sequence of 90 …

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Am. J. Hum. Genet.

D. Lugtenberg, H. Yntema, M. Banning, A. Oudakker et autres

Array-based comparative genomic hybridization has proven to be successful in the identification of genetic defects in disorders involving mental retardation. Here, we studied a patient with learning disabilities, retinal dystrophy, and short stature. The family history was suggestive of an X-linked contiguous …

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Am. J. Hum. Genet.

E. Rosenberg, L. Almeida, T. Kleefstra, R. deGrauw et autres

A novel X-linked mental retardation (XLMR) syndrome was recently identified, resulting from creatine deficiency in the brain caused by mutations in the creatine transporter gene, SLC6A8. We have studied the prevalence of SLC6A8 mutations in a panel of 290 patients with nonsyndromic …

J. Med. Genet.

T. Kleefstra, H. Yntema, A. Oudakker, M. Banning et autres

Author: Kleefstra, T. et al.; Genre: Journal Article; Issued: 2004-01-18; Keywords: MRX; translocation t(X; 9); XLMR; Xp11.23; ZNF81; Title: Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

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Am. J. Med. Genet. A

M. Gomot, C. Gendrot, A. Verloes, M. Raynaud et autres

Non-syndromic X-linked mental retardation (MRX) is a frequent cause of inherited mental retardation. It is a heterogeneous condition in which the first 12 genes discovered to date explain no more than 15% of the MRX situations ascertained by recurrence in multiplex families. …

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Trends Genet.

H. Ropers, M. Hoeltzenbein, V. Kalscheuer, H. Yntema et autres

Analysis of linkage intervals from 125 unrelated families with nonsyndromic X-linked mental retardation (NS-XLMR) has revealed that the respective gene defects are conspicuously clustered in defined regions of the human X-chromosome, with approximately 30% of all mutations being located on the proximal …

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J. Med. Genet.

T. Bienvenu, K. Poirier, H. Esch, B. Hamel et autres

Author: Bienvenu, T. et al.; Genre: Journal Article; Issued: 2003-05; Keywords: AGTR2 gene; non-specific mental retardation; X linked mental retardation; Title: Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation

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Excitation and detection of vibrations of micromechanical structures using a dielectric thin film

S. Bouwstra, F.R. Blom, T.S.J. Lammerink, H. Yntema et autres

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