A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population

2016 ◽  
Vol 44 (1) ◽  
pp. 16-20 ◽  
Author(s):  
Tânia Kawasaki de Araujo ◽  
Rodrigo Secolin ◽  
Têmis Maria Félix ◽  
Liliane Todeschini de Souza ◽  
Marshall Ítalo Barros Fontes ◽  
...  
2016 ◽  
Vol 83 (3) ◽  
pp. 265-268 ◽  
Author(s):  
Adrianna Mostowska ◽  
Kamil K. Hozyasz ◽  
Piotr Wójcicki ◽  
Barbara Biedziak ◽  
Joanna Wesoły ◽  
...  

The project “Searching for new genes and loci involved in cleft lip and palate in the Polish population – genome-wide association study” is a case-control study in a group of unrelated subjects with non-syndromic cleft lip with or without cleft palate (NSCL/P) and healthy individuals with no family history of clefting or other congenital disorders. The overall goal of this grant proposal is to identify novel genetic factors, which can play a significant role in the pathogenesis of orofacial clefts in the Polish population. To accomplish the proposed aim, a two stage genome-wide association study will be performed. In the first stage, Illumina's HumanOmni Express BeadChips arrays will be used to genotype over 700,000 polymorphisms in NSCL/P patients and controls. In the second stage, SNPs showing the most compelling association with the risk of orofacial clefts will be tested in an independent sample set using standard genotyping methods. This research project is expected to be completed in July 2015.


2014 ◽  
Vol 117 (2) ◽  
pp. e198-e199
Author(s):  
DANIELLA REIS BARBOSA MARTELLI ◽  
LAÍSE ANGÉLICA RODRIGUES ◽  
LÍVIA MARIS PARANAÍBA ◽  
SIBELE NASCIMENTO DE AQUINO ◽  
MÁRIO SÉRGIO OLIVEIRA SWERTS ◽  
...  

2008 ◽  
Vol 45 (3) ◽  
pp. 267-271 ◽  
Author(s):  
Heiko Reutter ◽  
Stefanie Birnbaum ◽  
Amalia Diaz Lacava ◽  
Meinhard Mende ◽  
Henning Henschke ◽  
...  

Objective: The 677C→T allele in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene has been implicated in the etiology of nonsyndromic cleft lip and palate (CL/P). This study involved a family-based association study of the MTHFR polymorphism. Patients/participants: We examined 181 patients with CL/P of central European descent and their parents for this variant. Results: The transmission disequilibrium test (TDT) did not confirm an association between the MTHFR 677C→T polymorphism and nonsyndromic CL/P as previously suggested (p = .36). When comparing the offspring of mothers with periconceptional use of folate to those without, no statistically significant differences were found (p = .708). Conclusion: Our data suggest that the MTHFR 677C→T polymorphism does not make a major contribution to the occurrence of CL/P among central Europeans.


2015 ◽  
Vol 123 (5) ◽  
pp. 381-384 ◽  
Author(s):  
Renata F. Fonseca ◽  
Flávia M. de Carvalho ◽  
Fernando A. Poletta ◽  
David Montaner ◽  
Joaquin Dopazo ◽  
...  

Author(s):  
RB. Martelli ◽  
PR. Bonan ◽  
MC. Soares ◽  
LR. Paranaiba ◽  
H. Martelli-Junior

2015 ◽  
Vol 120 (6) ◽  
pp. 744-750 ◽  
Author(s):  
Mario Rodrigues Melo Filho ◽  
Luis Antônio Nogueira dos Santos ◽  
Daniella Reis Barbosa Martelli ◽  
Marise Fagundes Silveira ◽  
Myrian Esteves da Silva ◽  
...  

2020 ◽  
Vol 23 (2) ◽  
pp. 72-73
Author(s):  
Georgia Chenevix-Trench

AbstractWe performed a candidate single-nucleotide polymorphism association study of cleft lip and palate in 1992 which earned more citations than it had subjects (N = 230).


2019 ◽  
Vol 4 (5) ◽  
pp. 878-892
Author(s):  
Joseph A. Napoli ◽  
Linda D. Vallino

Purpose The 2 most commonly used operations to treat velopharyngeal inadequacy (VPI) are superiorly based pharyngeal flap and sphincter pharyngoplasty, both of which may result in hyponasal speech and airway obstruction. The purpose of this article is to (a) describe the bilateral buccal flap revision palatoplasty (BBFRP) as an alternative technique to manage VPI while minimizing these risks and (b) conduct a systematic review of the evidence of BBFRP on speech and other clinical outcomes. A report comparing the speech of a child with hypernasality before and after BBFRP is presented. Method A review of databases was conducted for studies of buccal flaps to treat VPI. Using the principles of a systematic review, the articles were read, and data were abstracted for study characteristics that were developed a priori. With respect to the case report, speech and instrumental data from a child with repaired cleft lip and palate and hypernasal speech were collected and analyzed before and after surgery. Results Eight articles were included in the analysis. The results were positive, and the evidence is in favor of BBFRP in improving velopharyngeal function, while minimizing the risk of hyponasal speech and obstructive sleep apnea. Before surgery, the child's speech was characterized by moderate hypernasality, and after surgery, it was judged to be within normal limits. Conclusion Based on clinical experience and results from the systematic review, there is sufficient evidence that the buccal flap is effective in improving resonance and minimizing obstructive sleep apnea. We recommend BBFRP as another approach in selected patients to manage VPI. Supplemental Material https://doi.org/10.23641/asha.9919352


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