Acrocephalosyndactylia (Latest Articles)

Latest indexed articles for 'Acrocephalosyndactylia'

Articles 181 to 190 of 200:

Deletion involving the TWIST locus and the HOXA cluster: a contiguous gene syndrome on 7p?

27 Feb 2005 Deletion of TWIST on 7p21 leads to Saethre-Chotzen syndrome, whereas deletion of the HOXA cluster on 7p15.2 leads to hand-foot-genital syndrome. We report here a patient with 46,XY,del(7)(p15.2p21) who had craniosynostosis, maxillary hypoplasia, ...
rec_pub_15737130-deletion-involving-twist-locus-hoxa-cluster-contiguous-gene-syndrome.htm

Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities.

25 Feb 2005 Autosomal dominant mutations in the gene encoding the basic helix-loop-helix transcription factor Twist1 are associated with limb and craniofacial defects in humans with Saethre-Chotzen syndrome. The molecular mechanism underlying these phenotypes ...
rec_pub_15735646-altered-twist1-hand2-dimerization-associated-saethre-chotzen-syndrome.htm

Cbl-mediated ubiquitination of alpha5 integrin subunit mediates fibronectin-dependent osteoblast detachment and apoptosis induced by FGFR2 activation.

20 Feb 2005 Fibroblast growth factor receptor signaling is an important mechanism regulating osteoblast function. To gain an insight into the regulatory role of FGF receptor-2 (FGFR2) signaling in osteoblasts, we investigated integrin-mediated attachment and ...
rec_pub_15728256-cbl-mediated-ubiquitination-alpha5-integrin-subunit-mediates.htm

P253R fibroblast growth factor receptor-2 mutation induces RUNX2 transcript variants and calvarial osteoblast differentiation.

30 Jan 2005 Unregulated fibroblast growth factor 2 (FGF2) signaling caused by mutations in the fibroblast growth factor receptor (FGFR2) leads to human craniosynostosis such as the Apert syndrome. In an in vitro control model of calvarial osteoblasts from Apert ...
rec_pub_15389579-p253r-fibroblast-growth-factor-receptor-2-mutation-induces-runx2.htm

Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.

30 Dec 2004 The Apert syndrome is characterized by craniosynostosis and syndactyly of hands and feet. Although most cases are sporadic, an autosomal dominant mode of inheritance is well documented. Two mutations in the FGFR2 gene (Ser252Trp and Pro253Arg) ...
rec_pub_16440883-apert-syndrome-preaxial-polydactyly-showing-typical-mutation.htm

[Apert syndrome: a reported observation]

30 Dec 2004 Apert syndrome is a type of acrocephalosyndactylia that belongs to the group of craniofacial synostoses. It is characterised by craniofacial dysmorphia and syndactyly of hands and feet. It is an uncommon affection that is often transmitted through ...
rec_pub_15849982-apert-syndrome-reported-observation.htm

Understanding the molecular basis of Apert syndrome.

30 Dec 2004 Apert syndrome, first described in 1906, is one of the most severe of the craniosynostosis syndromes and is further characterized by midface hypoplasia, syndactyly, and other visceral abnormalities. Affected individuals generally require lifelong ...
rec_pub_15622262-understanding-molecular-basis-apert-syndrome.htm

Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome.

13 Dec 2004 Mutations in the fibroblast growth factor receptor 2 (FGFR2) cause a variety of craniosynostosis syndromes. The mutational spectrum tends to be narrow with the majority of mutations occurring in either exon IIIa or IIIc or in the intronic sequence ...
rec_pub_15523615-novel-mutation-tyrosine-kinase-domain-fgfr2-patient-pfeiffer-syndrome.htm

Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature.

30 Oct 2004 Pfeiffer syndrome is characterized by bilateral coronal craniosynostosis, midface hypoplasia, beaked nasal tip, broad and medially deviated thumbs and great toes. Originally, it was described in eight persons from three generations in a pedigree ...
rec_pub_15565658-prenatal-ultrasound-diagnosis-case-pfeiffer-syndrome-cloverleaf-skull.htm

Postnatal onset of craniosynostosis in a case of Saethre-Chotzen syndrome.

30 Oct 2004 Saethre-Chotzen syndrome is a craniosynostosis syndrome characterized by facial and limb abnormalities. It is caused by mutations in the TWIST gene on chromosome 7p21. To date, more than 80 different mutations in TWIST have been reported in the ...
rec_pub_15547403-postnatal-onset-craniosynostosis-case-saethre-chotzen-syndrome.htm

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