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Full-Text Articles in Medicine and Health Sciences
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 …
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 …
Mutations In Bmp4 Are Associated With Subepithelial, Microform, And Overt Cleft Lip, S. Suzuki, M. Marazita, M. Cooper, N. Miwa, A. Hing, A. Jugessur, N. Natsume, K. Shimozato, N. Ohbayashi, Y. Suzuki, T. Niimi, K. Minami, M. Yamamoto, T. Altannamar, T. Erkhembaatar, H. Furukawa, Sandra Daack-Hirsch, J. L'Heureux, C. Brandon, S. Weinberg, K. Neiswanger, F. Deleyiannis, J. De Salamanca, A. Vieira, A. Lidral, J. Martin, J. Murray
Mutations In Bmp4 Are Associated With Subepithelial, Microform, And Overt Cleft Lip, S. Suzuki, M. Marazita, M. Cooper, N. Miwa, A. Hing, A. Jugessur, N. Natsume, K. Shimozato, N. Ohbayashi, Y. Suzuki, T. Niimi, K. Minami, M. Yamamoto, T. Altannamar, T. Erkhembaatar, H. Furukawa, Sandra Daack-Hirsch, J. L'Heureux, C. Brandon, S. Weinberg, K. Neiswanger, F. Deleyiannis, J. De Salamanca, A. Vieira, A. Lidral, J. Martin, J. Murray
Sandra Daack-Hirsch
Cleft lip with or without cleft palate (CL/P) is a complex trait with evidence that the clinical spectrum includes both microform and subepithelial lip defects. We identified missense and nonsense mutations in the BMP4 gene in 1 of 30 cases of microform clefts, 2 of 87 cases with subepithelial defects in the orbicularis oris muscle (OOM), 5 of 968 cases of overt CL/P, and 0 of 529 controls. These results provide confirmation that microforms and subepithelial OOM defects are part of the spectrum of CL/P and should be considered during clinical evaluation of families with clefts. Furthermore, we suggest a …