C. Moraine

Am. J. Med. Genet. A

D. Lugtenberg, L. Zangrande-Vieira, M. Kirchhoff, A. Whibley et autres

ZNF630 is a member of the primate-specific Xp11 zinc finger gene cluster that consists of six closely related genes, of which ZNF41, ZNF81, and ZNF674 have been shown to be involved in mental retardation. This suggests that mutations of ZNF630 might influence …

de (code pays fourni par la source)

J Mol Diagn

S. Bashiardes, L. Kousoulidou, H. van Bokhoven, H. Ropers et autres

Recent studies and advances in high-density oligonucleotide arrays have shown that microdeletions and microduplications occur at a high frequency in the human genome, causing various genetic conditions including mental retardation. Thus far little is known about the pathways leading to this disease, …

de (code pays fourni par la source)

Mol Psychiatry

F. Laumonnier, C. Shoubridge, C. Antar, L. Nguyen et autres

Mutations in the UPF3B gene, which encodes a protein involved in nonsense-mediated mRNA decay, have recently been described in four families with specific (Lujan–Fryns and FG syndromes), nonspecific X-linked mental retardation (XLMR) and autism. To further elucidate the contribution of UPF3B to …

de (code pays fourni par la source)

Eur J Med Genet

L. Kousoulidou, S. Parkel, O. Žilina, P. Palta et autres

The rapid advancement of high-resolution DNA copy number assessment methods revealed the significant contribution of submicroscopic genetic imbalances to abnormal phenotypes, including mental retardation. In order to detect submicroscopic genetic imbalances, we have screened 20 families with X-linked mental retardation (XLMR) using …

de (code pays fourni par la source)

Eur J Hum Genet

W. Chen, L. Jensen, J. Gécz, J. Fryns et autres

MiRNAs are small noncoding RNAs that control the expression of target genes at the post-transcriptional level and have been reported to modulate various biological processes. Their function as regulatory factors in gene expression renders them attractive candidates for harbouring genetic variants with …

de (code pays fourni par la source)

Eur J Hum Genet

W. Chen, L. Jensen, J. Gécz, J. Fryns et autres

MiRNAs are small noncoding RNAs that control the expression of target genes at the post-transcriptional level and have been reported to modulate various biological processes. Their function as regulatory factors in gene expression renders them attractive candidates for harbouring genetic variants with …

de (code pays fourni par la source)

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 …

de (code pays fourni par la source)

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 …

de (code pays fourni par la source)

Hum. Gen.

O. Hagens, A. Dubos, F. Abidi, G. Barbi et autres

The extensive heterogeneity underlying the genetic component of mental retardation (MR) is the main cause for our limited understanding of the aetiology of this highly prevalent condition. Hence we set out to identify genes involved in MR. We investigated the breakpoints of …

de (code pays fourni par la source)

Eur J Hum Genet

K. Poirier, F. Francis, B. Hamel, C. Moraine et autres

de (code pays fourni par la source)

Am. J. Hum. Genet.

L. Jensen, M. Amende, U. Gurok, B. Moser et autres

families with nonsyndromic X-linked mental retardation (NS-XLMR), >30% of mutations seem to cluster on proximal Xp and in the pericentric region. In a systematic screen of brain-expressed genes from this region in 210 families with XLMR, we identified seven different mutations in …

de (code pays fourni par la source)

Am. J. Med. Genet.

J. So, V. Suckow, Z. Kijas, V. Kalscheuer et autres

Opitz syndrome (OS; MIM 145410 and MIM 300000) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal (LTE) abnormalities, imperforate anus, developmental delay, and cardiac defects. The X-linked form (XLOS) is caused by mutations in the MID1 gene, …

de (code pays fourni par la source)