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Full-Text Articles in Medicine and Health Sciences
Prevalence And Nonrandom Distribution Of Exonic Mutations In Interferon Regulatory Factor 6 In 307 Families With Van Der Woude Syndrome And 37 Families With Popliteal Pterygium Syndrome, R. De Lima, S. Hoper, M. Ghassibe, M. Cooper, N. Rorick, S. Kondo, L. Katz, M. Marazita, J. Compton, S. Bale, U. Hehr, M. Dixon, Sandra Daack-Hirsch, O. Boute, B. Bayet, N. Revencu, C. Verellen-Dumoulin, M. Vikkula, A. Richieri-Costa, D. Moretti-Ferreira, J. Murray, B. Schutte
Prevalence And Nonrandom Distribution Of Exonic Mutations In Interferon Regulatory Factor 6 In 307 Families With Van Der Woude Syndrome And 37 Families With Popliteal Pterygium Syndrome, R. De Lima, S. Hoper, M. Ghassibe, M. Cooper, N. Rorick, S. Kondo, L. Katz, M. Marazita, J. Compton, S. Bale, U. Hehr, M. Dixon, Sandra Daack-Hirsch, O. Boute, B. Bayet, N. Revencu, C. Verellen-Dumoulin, M. Vikkula, A. Richieri-Costa, D. Moretti-Ferreira, J. Murray, B. Schutte
Sandra Daack-Hirsch
PURPOSE: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome. METHODS: We performed direct sequence analysis of interferon regulatory factor 6 exons on samples from three collections, two with Van der Woude and one with popliteal pterygium …
Targeted Scan Of Fifteen Regions For Nonsyndromic Cleft Lip And Palate In Filipino Families, R. Schultz, M. Cooper, Sandra Daack-Hirsch, M. Shi, B. Nepomucena, K. Graf, E. O'Brien, S. O'Brien, M. Marazita, J. Murray
Targeted Scan Of Fifteen Regions For Nonsyndromic Cleft Lip And Palate In Filipino Families, R. Schultz, M. Cooper, Sandra Daack-Hirsch, M. Shi, B. Nepomucena, K. Graf, E. O'Brien, S. O'Brien, M. Marazita, J. Murray
Sandra Daack-Hirsch
Cleft lip with or without cleft palate (CL/P) is a congenital anomaly with variable birth prevalence based on geographic origins, with the highest rates commonly found in Asian populations. About 70% of cases are nonsyndromic (NS), in which the affected individual has no other abnormalities. NS CL/P is a complex disorder with genetic and environmental effects and no specific genetic loci yet confirmed. Fifteen candidate regions were examined for linkage to NS CL/P. Regions were chosen based on previous suggestive linkage and/or association in human families, or suggestive animal model data. Polymorphic markers in these regions were genotyped for analysis …
Exclusion Of The Branchio-Oto-Renal Syndrome Locus (Eya1) From Patients With Branchio-Oculo-Facial Syndrome, A. Lin, E. Semina, Sandra Daack-Hirsch, E. Roeder, C. Curry, K. Rosenbaum, D. Weaver, J. Murray
Exclusion Of The Branchio-Oto-Renal Syndrome Locus (Eya1) From Patients With Branchio-Oculo-Facial Syndrome, A. Lin, E. Semina, Sandra Daack-Hirsch, E. Roeder, C. Curry, K. Rosenbaum, D. Weaver, J. Murray
Sandra Daack-Hirsch
In addition to craniofacial, auricular, ophthalmologic, and oral anomalies, the distinctive phenotype of the branchio-oculo-facial (BOF) syndrome (MIM 113620) includes skin defects in the neck or infra/supra-auricular region. These unusual areas of thin, erythematous wrinkled skin differ from the discrete cervical pits, cysts, and fistulas of the branchio-oto-renal (BOR) syndrome (MIM 113650). Although the BOF and BOR syndromes are sufficiently distinctive that they should not be confused, both can be associated with nasolacrimal duct stenosis, deafness, prehelical pits, malformed pinna, and renal anomalies. Furthermore, a reported father and son [Legius et al., 1990, Clin Genet 37:347-500] had features of both …
Dermatoglyphic Pattern Types In Subjects With Nonsyndromic Cleft Lip With Or Without Cleft Palate (Cl/P) And Their Unaffected Relatives In The Philippines, N. Scott, S. Weinberg, K. Neiswanger, Sandra Daack-Hirsch, S. O'Brien, J. Murray, M. Marazita
Dermatoglyphic Pattern Types In Subjects With Nonsyndromic Cleft Lip With Or Without Cleft Palate (Cl/P) And Their Unaffected Relatives In The Philippines, N. Scott, S. Weinberg, K. Neiswanger, Sandra Daack-Hirsch, S. O'Brien, J. Murray, M. Marazita
Sandra Daack-Hirsch
OBJECTIVE: To investigate dermatoglyphic patterns in 95 nonsyndromic Filipino subjects with nonsyndromic cleft lip with or without cleft palate (CL/P) and 90 of their unaffected relatives. DESIGN: Retrospective study of dermatoglyphic pattern types. SETTING: Negros Occidental and Cavite in the Philippines. PARTICIPANTS: Nonsyndromic subjects with CL/P and their unaffected relatives. METHODS: Dermatoglyphic patterns were categorized as arch, ulnar loop, radial loop, whorl, or other by three independent raters. Pattern data from the subjects, the unaffected relatives, and an unaffected control population (from the literature) were compared using chi-square tests. As a measure of asymmetry, dissimilarity between pattern types on homologous …
Impaired Fgf Signaling Contributes To Cleft Lip And Palate, B. Riley, M. Mansilla, J. Ma, Sandra Daack-Hirsch, B. Maher, L. Raffensperger, E. Russo, A. Vieira, C. Dode, M. Mohammadi, M. Marazita, J. Murray
Impaired Fgf Signaling Contributes To Cleft Lip And Palate, B. Riley, M. Mansilla, J. Ma, Sandra Daack-Hirsch, B. Maher, L. Raffensperger, E. Russo, A. Vieira, C. Dode, M. Mohammadi, M. Marazita, J. Murray
Sandra Daack-Hirsch
Nonsyndromic cleft lip and palate (NS CLP) is a complex birth defect resulting from a combination of genetic and environmental factors. Several members of the FGF and FGFR families are expressed during craniofacial development and can rarely harbor mutations that result in human clefting syndromes. We hypothesized that disruptions in this pathway might also contribute to NS CLP. We sequenced the coding regions and performed association testing on 12 genes (FGFR1, FGFR2, FGFR3, FGF2, FGF3, FGF4, FGF7, FGF8, FGF9, FGF10, FGF18, and NUDT6) and used protein structure analyses to predict the function of amino acid variants. Seven likely disease-causing mutations …
The Effect Of Follow-Up On Limiting Non-Participation Bias In Genetic Epidemiologic Investigations, P. Romitti, R. Munger, J. Murray, Sandra Daack-Hirsch, J. Hanson, T. Burns
The Effect Of Follow-Up On Limiting Non-Participation Bias In Genetic Epidemiologic Investigations, P. Romitti, R. Munger, J. Murray, Sandra Daack-Hirsch, J. Hanson, T. Burns
Sandra Daack-Hirsch
The use of a comprehensive follow-up strategy to limit non-participation bias was evaluated in a population-based case-control study of orofacial clefts. Birth parents were requested to provide exposure data, and index children and parents were asked to provide blood specimens. Follow-up included telephone or postal reminders every two weeks for up to three months. Consent to participate was received from 281 (76.6%) case mothers and 246 (72.4%) case fathers. The corresponding totals for controls were 279 (54.7%) and 245 (49.8%). Evaluation of participation rates by intensity of follow-up showed that 23% of case and 18% of control families consented without …
Candidate Genes For Nonsyndromic Cleft Lip And Palate And Maternal Cigarette Smoking And Alcohol Consumption: Evaluation Of Genotype-Environment Interactions From A Population-Based Case-Control Study Of Orofacial Clefts, P. Romitti, A. Lidral, R. Munger, Sandra Daack-Hirsch, T. Burns, J. Murray
Candidate Genes For Nonsyndromic Cleft Lip And Palate And Maternal Cigarette Smoking And Alcohol Consumption: Evaluation Of Genotype-Environment Interactions From A Population-Based Case-Control Study Of Orofacial Clefts, P. Romitti, A. Lidral, R. Munger, Sandra Daack-Hirsch, T. Burns, J. Murray
Sandra Daack-Hirsch
Previous studies suggest that the relationship between genes and nonsyndromic cleft lip +/- cleft palate (CLP) or cleft palate only (CP) may be modified by the environment. Using data from a population-based case-control study, we examined allelic variants for three genes, i.e., transforming growth factor alpha (TGFA), transforming growth factor beta 3 (TGFB3), and Msh (Drosophila) homeobox homolog 1 (MSX1), and their interactions with two exposures during pregnancy (maternal cigarette smoking and alcohol consumption) as risk factors for CLP and CP. For each cleft phenotype, risk estimates associated with most allelic variants tended to be near unity. Risk estimates for …
X-Chromosome Inactivation Patterns In Monozygotic Twins And Sib Pairs Discordant For Nonsyndromic Cleft Lip And/Or Palate, J. Kimani, M. Shi, Sandra Daack-Hirsch, K. Christensen, D. Moretti-Ferreira, M. Marazita, L. Field, J. Canady, J. Murray
X-Chromosome Inactivation Patterns In Monozygotic Twins And Sib Pairs Discordant For Nonsyndromic Cleft Lip And/Or Palate, J. Kimani, M. Shi, Sandra Daack-Hirsch, K. Christensen, D. Moretti-Ferreira, M. Marazita, L. Field, J. Canady, J. Murray
Sandra Daack-Hirsch
Nonsyndromic clefts of the lip and/or palate are common birth defects with a strong genetic component. Based on unequal gender ratios for clefting phenotypes, evidence for linkage to the X chromosome and the occurrence of several X-linked clefting syndromes, we investigated the role of skewed X chromosome inactivation (XCI) in orofacial clefts. Our samples consisted of female monozygotic (MZ) twins (n = 8) and sister pairs (n = 152) discordant for nonsyndromic clefting. We measured the XCI pattern in peripheral blood lymphocyte DNA using a methylation based androgen receptor gene assay. Skewing of XCI was defined as the deviation in …
Clinical And Epidemiologic Studies Of Cleft Lip And Palate In The Philippines, J. Murray, Sandra Daack-Hirsch, K. Buetow, R. Munger, L. Espina, N. Paglinawan, E. Villanueva, J. Rary, K. Magee, W. Magee
Clinical And Epidemiologic Studies Of Cleft Lip And Palate In The Philippines, J. Murray, Sandra Daack-Hirsch, K. Buetow, R. Munger, L. Espina, N. Paglinawan, E. Villanueva, J. Rary, K. Magee, W. Magee
Sandra Daack-Hirsch
Clinical and epidemiologic studies of defined geographic populations can serve as a means of establishing data important for genetic counseling and as a first step in identifying strategies best suited for identification of causes. Under the sponsorship of Operation Smile International, clinical, genetic, and epidemiologic studies were carried out at six sites within the Philippines between 1989 and 1996. Patients who were being evaluated for surgical repair of craniofacial anomalies (primarily clefts of the lip and palate) were briefly examined for the presence of associated anomalies, and a family history was obtained to look for the frequency of cleft lip …
Maternal Alcohol Use And Risk Of Orofacial Cleft Birth Defects, R. Munger, P. Romitti, Sandra Daack-Hirsch, T. Burns, J. Murray, J. Hanson
Maternal Alcohol Use And Risk Of Orofacial Cleft Birth Defects, R. Munger, P. Romitti, Sandra Daack-Hirsch, T. Burns, J. Murray, J. Hanson
Sandra Daack-Hirsch
Maternal alcohol use during pregnancy is a known cause of birth defects associated with the fetal alcohol syndrome, but its role in more common, isolated, craniofacial birth defects is not well understood. A population-based, case-control study of orofacial clefts was conducted in Iowa using births during 1987-1991. Cases were identified by the Iowa Birth Defects Registry and classified as having a cleft lip with or without cleft palate (CLP) or cleft palate only (CP) and whether the cleft was isolated or occurred with other birth defects. Controls were selected from normal Iowa births. Maternal alcohol use during pregnancy was classified …