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Acrocephalosyndactylia (Latest Articles)
Latest indexed articles for 'Acrocephalosyndactylia'
Articles 171 to 180 of 200:
29 Apr 2005 
BACKGROUND: The technique of facial bipartition has been considered a great advance in achieving a more natural appearance in hypertelorism correction. METHODS: Fourteen patients who had undergone hypertelorism correction by facial bipartition were ...
rec_pub_15861056-hypertelorism-importance-three-dimensional-imaging-trends-surgical.htm
Halo distraction of the Le Fort III in syndromic craniosynostosis: a long-term assessment.
29 Apr 2005 BACKGROUND: Little is known about long-term outcomes after Le Fort III halo distraction, such as indications for distraction, amount of relapse, and long-term maxillary growth. METHODS: During a 5-year period, 51 Le Fort III osteotomies were ...
rec_pub_15861055-halo-distraction-le-fort-iii-syndromic-craniosynostosis-long-term.htm
Twist is required for establishment of the mouse coronal suture.
29 Apr 2005 
Cranial sutures are the growth centres of the skull, enabling expansion of the skull to accommodate rapid growth of the brain. Haploinsufficiency of the human TWIST gene function causes the craniosynostosis syndrome, Saethre-Chotzen syndrome (SCS), ...
rec_pub_15857364-twist-required-establishment-mouse-coronal-suture.htm
17 Apr 2005 Despite the importance of mutation in genetics, there are virtually no experimental data on the occurrence of specific nucleotide substitutions in human gametes. C>G transversions at position 755 of FGF receptor 2 (FGFR2) cause Apert syndrome; this ...
rec_pub_15840724-gain-function-amino-acid-substitutions-drive-positive-selection-fgfr2.htm
11 Apr 2005 Genetic mutations of Twist, a bHLH transcription factor, induce premature fusion of cranial sutures (craniosynostosis) in the Saethre-Chotzen syndrome (SCS). The mechanisms by which Twist haploinsufficiency may alter osteoblast differentiation are ...
rec_pub_15829502-a-role-fibroblast-growth-factor-receptor-2-altered-osteoblast.htm
Neuropsychological diversity in Apert syndrome: a comparison of cognitive profiles.
30 Mar 2005 Apert syndrome is characterized by craniosynostosis, central nervous system anomalies, midface hypoplasia, and syndactyly. Current research has focused on genetic and neurologic correlates. Cognitive assessment has been primarily limited to global ...
rec_pub_15785290-neuropsychological-diversity-apert-syndrome-comparison-cognitive.htm
In vitro differentiation profile of osteoblasts derived from patients with Saethre-Chotzen syndrome.
30 Mar 2005 Seathre-Chotzen syndrome (SCS) is an autosomal dominant craniosynostosis syndrome, associated with loss-of-function mutations in the basic helix-loop-helix transcription factor, TWIST1. The biologic activity of TWIST1 has been implicated in the ...
rec_pub_15781003-in-vitro-differentiation-profile-osteoblasts-derived-patients-saethre.htm
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
30 Mar 2005 We report a family heterozygous for a newly identified mutation in the tyrosine kinase I domain of the FGFR2 gene (1576A > G, encoding the missense substitution Lys526Glu), associated with variable expressivity of Crouzon syndrome, including ...
rec_pub_15523492-a-mutation-fgfr2-tyrosine-kinase-domain-mild-crouzon-syndrome.htm
29 Mar 2005 In Drosophila, mutations in the Twist gene interact with mutations in the Snail gene. We show that the mouse Twist1 mutation interacts with Snai1 and Snai2 mutations to enhance aberrant cranial suture fusion, demonstrating that genetic interactions ...
rec_pub_15802514-mutations-snail-family-genes-enhance-craniosynostosis-twist1-haplo.htm
27 Feb 2005
rec_pub_15748556-apert-syndrome.htm
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