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Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
An essential role of PHOX2B in the normal patterning of the autonomous ventilation system and, more generally, of the autonomic nervous system in humans is supported. Expand
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
Findings show that mutations in RPGRIP1L can cause the multiorgan phenotypic abnormalities found in CORS or MKS, which therefore represent a continuum of the same underlying disorder. Expand
Human neural tube defects: developmental biology, epidemiology, and genetics.
The evidence for genetic etiology and for environmental influences are reviewed, and current views on the developmental processes involved in human neural tube closure are presented. Expand
splotch (Sp2H ), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3
This study provides evidence for a causal link between deletion of the paired homeodomain of PAX-3 and the Sp2H mutation, and infers that Pax-3 plays a key role in normal neural development. Expand
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
Several lines of evidence for the existence of a 17q24 locus underlying Pierre Robin sequence are reported, including linkage analysis results, a clustering of translocation breakpoints, and a heterozygous point mutation in an evolutionarily conserved region of DNA with in vitro and in vivo features of a developmental enhancer. Expand
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
Large-scale deletions and a nonsense mutation in the short stature homeobox-containing gene7,8 (SHOX) are reported and it is shown that Langer mesomelic dwarfism9 results from homozygous mutations at the DCS locus. Expand
Confined placental mosaicism.
The diagnosis of CPM is most commonly made when, after the diagnosis of chromosomal mosaicism in a CVS sample, the second prenatal testing (amniotic fluid culture or fetal blood culture analysis) shows a normal diploid karyotype. Expand
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
Results clearly show that array comparative genomic hybridisation should be considered to be an essential aspect of the genetic analysis of patients with syndromic ASD, and may allow the delineation of new contiguous gene syndromes associated with ASD. Expand
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.
Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations, polydactyly, multicystic kidney dysplasia, and ductal changes of the liver.Expand
Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossification
The simultaneous expression of FGFR 1-3 genes in cranial sutures might explain their involvement in craniosynostosis syndromes, whereas the specific expression ofFGFR 3 in chondrocytes does correlate with the involvement of FG FR 3 mutations in inherited defective growth of human long bones. Expand