eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cleft palate |
| Symptom | |cleft lip |
| Sentences | 274 |
| PubMedID- 24382704 | Evaluating eight newly identified susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a mesoamerican population. |
| PubMedID- 25780529 | Background: the methylenetetrahydrofolate reductase (mthfr) is thought to be involved in the development of nonsyndromic cleft lip with or without cleft palate (nscl/p). |
| PubMedID- 24252547 | Summary non-syndromic oral clefts comprising cleft lip with and without cleft palate (cl/p) and cleft palate only (cpo) are common birth defects worldwide. |
| PubMedID- 20436469 | A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near mafb and abca4. |
| PubMedID- 22125225 | The practical relevance of the approach is illustrated by an application to a sequencing dataset for nonsyndromic cleft lip with or without cleft palate. |
| PubMedID- 24066709 | Objective : the aim of this work was to fine-map the region 6q23.1, which obtained suggestive linkage signal (logarithm of the odds lod score = 2.22 under a recessive model) to cleft lip with or without cleft palate (cl+/-p) in our previous genome-wide linkage scan to identify possible genetic variants that may contribute to cl+/-p. |
| PubMedID- 21381882 | Cchd, anencephaly, spina bifida, congenial diaphragmatic hernia (cdh), omphalocele, gastroschisis, limb defects, cleft lip with or without cleft palate (cl/p) and isolated cleft palate were evaluated. |
| PubMedID- 21565678 | Objective: convincing evidence suggests a link between increased risk of nonsyndromic cleft lip with or without cleft palate (nscl/p) and low intake of folic acid by the mother during pregnancy. |
| PubMedID- 24972815 | Mafb (v-maf musculoaponeurotic fibrosarcoma oncogene homolog b) is a new gene that may be involved in susceptibility to cleft lip with or without cleft palate (cl/p). |
| PubMedID- 25711982 | The highest elevations in sex ratios (i.e., male preponderance) among isolated non-cardiac defects were for craniosynostosis (2.12), cleft lip with cleft palate (2.01), and cleft lip without cleft palate (1.78); the lowest sex ratios (female preponderance) were for choanal atresia (0.45), cloacal exstrophy (0.46), and holoprosencephaly (0.64). |
| PubMedID- 20078200 | (3) the pattern of expression of the phenotypic features identified to date supports the contention that there are differences in the inheritance of cleft lip with or without cleft palate and isolated cleft palate. |
| PubMedID- 26469673 | Objectives: we determined the association between maternal neighborhood socioeconomic position (sep) and the risk of cleft lip with or without cleft palate (cl+/-p) or cleft palate alone (cp) in offspring. |
| PubMedID- 22723972 | For haplotype analysis, we used a sliding-window approach and assessed isolated cleft lip with or without cleft palate (icl/p) separately from isolated cleft palate only (icpo). |
| PubMedID- 22549767 | To demonstrate the application, we apply our method to candidate gene sequencing data from a german case-control study on nonsyndromic cleft lip with or without cleft palate. |
| PubMedID- 24375841 | Objective: to investigate trends in prenatal diagnosis and termination of pregnancy rates in cases of fetal cleft lip with or without cleft palate (cl +/- p), before and after the introduction in the netherlands of the 20-week anomaly scan in 2007, and to assess the accuracy of this scan for the diagnosis of facial clefts. |
| PubMedID- 21254358 | Background: nonsyndromic cleft lip with or without cleft palate (nsclp) is a common birth defect that has a multifactorial etiology. |
| PubMedID- 21113916 | cleft lip with or without cleft palate was detected prenatally in 38/43 cases, a sensitivity of 88%. |
| PubMedID- 21536809 | Main outcome measures: pnd and birth prevalence of selected congenital anomaly groups/subtypes (anencephaly, spina-bifida, serious cardiac, diaphragmatic hernia, gastroschisis, exomphalos, bilateral renal agenesis, lethal/severe skeletal dysplasia, cleft lip with or without cleft palate cl + /- p). |
| PubMedID- 26215833 | The purpose of the study was to analyse polymorphic variants of the gch1 gene as risk factors for non-syndromic cleft lip with or without cleft palate (nscl/p). |
| PubMedID- 20949506 | Sub-epithelial defects (i.e., discontinuities) of the superior orbicularis oris (oo) muscle appear to be a part of the phenotypic spectrum of cleft lip with or without cleft palate (cl +/- p). |
| PubMedID- 22906393 | Dermatoglyphic evaluation in subjects and parents of cleft lip with and without cleft palate. |
| PubMedID- 24838934 | The aim of this study was to evaluate the association between nucleotide variants of cdh1 and the risk of non-syndromic cleft lip with or without cleft palate (nscl/p). |
| PubMedID- 20023658 | We conducted a genome-wide association study for nonsyndromic cleft lip with or without cleft palate (nscl/p) in 401 affected individuals and 1,323 controls, with replication in an independent sample of 793 nscl/p triads. |
| PubMedID- 25220223 | Objectives: nonsyndromic cleft lip with or without cleft palate (nscl/p) is a common birth defect which is strongly associated with genetic factors. |
| PubMedID- 25163644 | Background: nonsyndromic cleft lip with or without cleft palate (nscl/p) is a common birth defect of complex etiology. |
| PubMedID- 21679965 | A relatively high prevalence of cleft lip, with or without cleft palate, was observed. |
| PubMedID- 23017738 | Material and methods: retrospective study of all cases of cleft lip with or without cleft palate referred to our fetal medicine unit, between january 2005 and january 2011. |
| PubMedID- 25135242 | Background: cleft lip with or without cleft palate is one of the most common congenital anomalies that affect the oro-facial region. |
| PubMedID- 21281326 | Based on our data, maternal gravidity represents a significant risk factor for congenital heart defects and cleft lip with or without cleft palate in the newborn infant. |
| PubMedID- 22976623 | The purpose of this study was to investigate the contribution of pax9 gene to the risk of nonsyndromic cleft lip with or without cleft palate (ns-cl/p). |
| PubMedID- 22415108 | Methods: in a prospective cohort of 240,244 women enrolled between 1993 and 1995 in 1 northern and 2 southern provinces in china, we examined the risk of nonsyndromic cleft lip with or without cleft palate (cl/p) and cleft palate alone (cp) in relation to maternal use of 400 mug of folic acid without other vitamins. |
| PubMedID- 21781438 | Evidence of an involvement of tfap2a gene in non-syndromic cleft lip with or without cleft palate: an italian study. |
| PubMedID- 20880515 | cleft lip with or without cleft palate, cleft lip only, cleft lip with cleft palate and cleft palate only), interestingly, we found that rs16260 overall genotype frequencies in cleft palate only (cpo) groups were significantly different with those in the controls (p=0.004) and rs16260 aa genotype significantly increased the risk of cpo by 5.90-fold (or=6.90, 95% ci=1.47-32.40), providing the first evidence of cdh1 genetic variation in the etiology of cpo. |
| PubMedID- 20499406 | Isolated or associated cleft lip, with or without cleft palate (cl/p), or cleft palate (cp) were diagnosed in 18 chromosomally normal fetuses (an incidence of 2.2 per 1000). |
| PubMedID- 22490406 | Background: the receptor tyrosine kinase-like orphan receptor 2 (ror2) gene has been recently shown to play important roles in palatal development in animal models and resides in the chromosomal region linked to non syndromic cleft lip with or without cleft palate in humans. |
| PubMedID- 20932509 | Objective: non-syndromic cleft lip with or without cleft palate (nsclp) is one of the most common birth defects all over the world. |
| PubMedID- 22905623 | Objective: to reveal the association between the single nucleotide polymorphism (snp) of v-maf musculoaponeurotic fibrosarcoma oncogene homolog b (mafb) gene rs17820943 locus and non-syndromic cleft lip with or without cleft palate (nscl/p) in the southern chinese han population. |
| PubMedID- 26511190 | E-cadherin coding gene (cdh1) and nonsyndromic cleft lip with or without cleft palate: is there any association. |
| PubMedID- 21434540 | The eec syndrome, consisting of ectrodactyly (e), ectodermal dysplasia (e) and cleft lip (c) with or without cleft palate, is the prototype of these syndromes with the presence of heterozygote mutation in the p63 gene in most of the patients. |
| PubMedID- 20196142 | Background: nonsyndromic cleft lip with or without cleft palate is a common birth defect. |
| PubMedID- 24859337 | cleft lip with or without cleft palate (cl/p) is one of the most common congenital malformations observed in humans, with 1 occurrence in every 500-1,000 births. |
| PubMedID- 26198054 | Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a brazilian population with high african ancestry. |
| PubMedID- 24764755 | cleft palate with or without cleft lip and hypotonia. |
| PubMedID- 25745610 | cleft lip associated with cleft palate (clp) was the most prevalent type of cleft (50%), followed by isolated cleft lip (35.2%) and isolated cleft palate (14.8%). |
| PubMedID- 26540672 | The aim of the investigation was to replicate previous studies reporting evidence of association between polymorphisms of folate related genes and the occurrence of non-syndromic cleft lip with or without cleft palate (nscl/p), using three independent samples of different ancestry: from tibet, bangladesh and iran, respectively. |
| PubMedID- 22346164 | In some cases, narrow arch, high palate and cleft palate with or without cleft lip may be present. |
| PubMedID- 26082386 | Dental anomalies were more prevalent in cleft lip with cleft palate than other cleft types. |
| PubMedID- 22286446 | Having a cleft lip together with cleft palate was associated with fistula formation, whereas surgeon nationality and older age at surgery were not. |
| PubMedID- 20081540 | Maternal passive smoking and risk of cleft lip with or without cleft palate. |
| PubMedID- 21689018 | No significant association was found between nsoc and rs3821949 or rs12532 in msx1 gene, whereas an association was observed between the p147q variant and cleft lip with cleft palate in the case-control analysis. |