Van Der Woude Syndrome
Mostrando 1-11 de 11 artigos, teses e dissertações.
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1. Analise de mutações no gene IRF6 na sindrome de Van Der Woude e do polimorfismo V274I (IRF6) em fissuras labio-palatinas não-sindromicas / Mutations analysis of the IRF6 gene in Van Der Woude syndrome and of the V274I polymorphism (IRF6) in nonsyndromic cleft lip and/or palate
Mutações no gene do fator regulador de interferon 6 (IRF6) têm sido identificadas em afetados pela síndrome de van der Woude (SVW) e polimorfismos em IRF6 foram associados a pacientes com fissura labial e/ou palatina não-sindrômica (FL/PNS). A síndrome de van der Woude (SVW) é uma alteração craniofacial rara, autossômica dominante, caracterizada p
Publicado em: 2009
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2. The Use of Adult Stem Cells to Study the Etiopathogeny of Cleft Lip and Palate and Tissue Engineering / Uso de células tronco adultas para estudo da etiopatogenia das fissuras lábio palatinas e bioengenharia de tecidos
Clefts involving the lip and palate (CLP) or palate only (CP) represent the most frequent facial malformation during birth and correspond to approximately 25% of all congenital defects. The incidence of this problem is high; corresponding to approximately 1:700 births, but is different among the ethnic groups. Clefts represent a major health problem due to t
Publicado em: 2007
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3. Epidemiologia das fissuras labiopalatais e avaliação fenotípica e genética da síndrome de Van der Woude / Epidemiology of cleft lip and palate and clinical and genetic features of Van der Woude syndrome
As fissuras de lábio e/ou palato perfazem cerca de 65% de todas as anomalias de cabeça e pescoço e podem ser encontradas de forma isolada ou associadas como parte de uma síndrome A etiologia e patogenia das fissuras orais particularmente as de origem não sindrômica são pouco compreendidas Isto devido em parte à complexidade e diversidade do mecanismo
Publicado em: 2006
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4. Clinical, radiographic and molecular characterization of the Van Der Woud Syndrome / Caracterização clínica, radiográfica e molecular da Síndrome de Van Der Woude
The Van der Woude syndrome (VWS) is characterized by the presence of congenital lower lip pits associated or not to cleft lip and/or palate. This disorder is the most common syndrome affecting patients with cleft lip and palate; despite of that, it is underdiagnosed. After DNA sequencing in 2001, there was an increase in the interest and development of studi
Publicado em: 2006
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5. Linkage studies in Van der Woude syndrome.
A newly ascertained kindred segregating Van der Woude syndrome through four generations is described. Linkage studies using the methods of Ott (1974) were carried out using 19 marker loci.
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6. Linkage studies in a pedigree with Van der Woude syndrome.
A kindred segregating for Van der Woude syndrome (VWS) through five generations is described. Biochemical and serological phenotypes at 36 polymorphic marker loci have been determined, of which 27 were informative for linkage analysis to the VWS gene (LIPED 3 computer programme). Lod scores are reported and show exclusion of close linkage for most of the mar
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7. Van der Woude syndrome and limb defects: the chance of recurrence.
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8. The Van der Woude syndrome (dominantly inherited lip pits and clefts).
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9. Cleft lip and palate, lower lip pits, and limb deficiency defects.
Cleft lip or palate and lower lip pits are typical features of the autosomal dominantly inherited Van der Woude syndrome. Limb defects have not been reported in this syndrome so far. A girl with a unilateral complete cleft lip and palate, bilateral lower lip pits, and amniotic deformities of all four limbs is reported and the possibility of chance occurrence
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10. A Preliminary Gene Map for the Van der Woude Syndrome Critical Region Derived from 900 kb of Genomic Sequence at 1q32–q41
Van der Woude syndrome (VWS) is a common form of syndromic cleft lip and palate and accounts for ∼2% of all cleft lip and palate cases. Distinguishing characteristics include cleft lip with or without cleft palate, isolated cleft palate, bilateral lip pits, hypodontia, normal intelligence, and an autosomal-dominant mode of transmission with a high degree o
Cold Spring Harbor Laboratory Press.
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11. Exclusion of candidate genes from a role in cleft lip with or without cleft palate: linkage and association studies.
Candidate genes and marker loci for cleft lip/palate (CL/P) were tested using linkage analyses and association studies. Eight British families with apparent autosomal dominant inheritance of non-syndromic CL/P participated in the linkage analyses while the association analyses involved 61 unrelated British white people with CL/P and 60 controls. The report o