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Despite significant progress made in identification on numerous genes and gene pathways critical for craniofacial development, several approaches, ie mutation screening of specific candidates, association studies and even genome-wide scans have largely failed to reveal the molecular basis of NS human clefting. Moreover, the efficiency of Whole Exome Sequencing -WES- was proven. The efficiency of WES was proven by the identification of the genes causing Freeman Sheldon and Miller's syndrome, followed by several others. In the Picardy region, management and follow-up of orofacial cleft patients are well-organised by a multidisciplinary team in the university hospital of Amiens. The investigators therefore decided to perform whole exome sequencing (WES) on precisely phenotyped non-syndromic CL/P patients followed in our center.
Cleft Lip and Palate
identification of genetic factors
CHU Amiens Picardie
Centre Hospitalier Universitaire, Amiens
Published on BioPortfolio: 2017-02-28T15:38:22-0500
Cleft lips and palate are one of the most frequent congenital malformation. From 2005 to 2009, a French study, conducted by Dr Bäumler et al. evaluated the accuracy of prenatal ultrasound...
This trial is a randomised controlled trial with a parallel design taking place in centres across the UK, Scandinavia and Brazil. 650 infants with a diagnosis of isolated cleft palate who...
To determine if providing a written document in addition to the standard oral discussion of surgical risks improves risk recall for the parents/guardians of a child seen in consultation fo...
Cleft Lip and Palate surgical repair is one of the most common procedures performed by Plastic and Reconstructive Surgeons in the World. With this in mind, it is curious that no consensus ...
The purpose of the study is to assess if there are any differences in the articulatory and phonological competence in pre-school children with unilateral cleft lip and palate (UCLP) who ar...
Nonsyndromic orofacial cleft (NSOFC) including cleft lip with or without cleft palate (CL±P) and cleft palate (CP) are multifactorial developmental disorders with both genetic and environmental etiol...
The aim of the present study is to explore genetic factors determining difference of cleft side using whole-genome sequencing and evaluation of craniofacial morphology using cephalometric analysis bet...
We aimed to study the association between rs7525173, rs2236518, rs2493264 single nucleotide polymorphism (SNP) in the PRDM16 gene, smoking, alcohol exposures, and nonsyndromic cleft lip with or withou...
To evaluate the presence of maxillary gap (MG) and abnormal retronasal triangle (RT) as markers of cleft palate (CP) with and without cleft lip in the first trimester and to assess their association w...
Subjects with cleft lip and palate (CLP) present high prevalence of dental agenesis. Among candidate genes for these phenotypes, IRF6. However, genetic studies do not analyze dental agenesis as a phen...
An autosomal recessive disorder characterized by brachygnathia and cleft palate, often associated with glossoptosis, backward and upward displacement of the larynx, and angulation of the manubrium sterni. Cleft palate makes sucking and swallowing difficult, permitting easy access of fluids into the larynx. It may appear in several syndromes or as an isolated hypoplasia. (Dorland, 27th ed)
Congenital fissure of the soft and/or hard palate, due to faulty fusion.
Surgical procedure to add bone to the ALVEOLAR RIDGE in children born with a CLEFT LIP and a CLEFT PALATE.
Failure of the SOFT PALATE to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (ADENOIDECTOMY; CLEFT PALATE) or an incompetent PALATOPHARYNGEAL SPHINCTER. It is characterized by hypernasal speech.
Appliances that close a cleft or fissure of the palate.
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...