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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cleft palate
Comorbidity |cleft lip
Sentences 270
PubMedID- 22499695 Candidate pathway based analysis for cleft lip with or without cleft palate.
PubMedID- 20196142 Background: nonsyndromic cleft lip with or without cleft palate is a common birth defect.
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- 26221921 Objective: nonsyndromic cleft lip with or without cleft palate (ns-cl/p) are among the most common congenital birth defects worldwide.
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- 20531946 Four congenital birth defects were diagnosed in neonates born from mother reporting ili during pregnancy, one in the pdm flu group (ventricular septal defect, n = 1), three in the non pdm ili group (cleft lip without cleft palate, n = 1, cleft lip with cleft palate, n = 1, hypospadias, n = 1).
PubMedID- 22737550 Background: non-syndromic cleft lip with or without cleft palate (cl/p) or cleft palate only (cpo) are orofacial clefts with multifactorial etiology.
PubMedID- 26082386 Dental anomalies were more prevalent in cleft lip with cleft palate than other cleft types.
PubMedID- 26313826 Prenatal ultrasound diagnosis of cleft lip with or without cleft palate has received little attention in the plastic surgery literature despite its initial description more than 30 years ago.
PubMedID- 26424980 Single nucleotide polymorphism of bmp4 gene: a risk factor of non-syndromic cleft lip with or without cleft palate.
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- 20081540 Maternal passive smoking and risk of cleft lip with or without cleft palate.
PubMedID- 21564312 New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate.
PubMedID- 26402724 Participants: the study sample consisted of 189 case-parent trios of nonsyndromic cleft lip with or without cleft palate (nscl+/-p), 107 case-parent trios of nonsyndromic cleft palate (nscp), 318 isolated samples of nscl+/-p, 189 isolated samples of nscp, and 599 healthy controls.
PubMedID- 22346004 The major symptoms include palmoplantar hyperkeratosis, sparse, coarse, wiry hair, small, sparse eyelashes, malformed nails, missing teeth (anodontia/oligodontia), cleft palate, sometimes with cleft lip and lid adhesions/ankyloblepharon.
PubMedID- 23551076 Background: cleft lip, with or without cleft palate (cl+/-p), is the most common craniofacial anomaly in newborns.
PubMedID- 22374000 Updating the epidemiology of cleft lip with or without cleft palate.
PubMedID- 20878909 Stratification by type of surveillance system showed that active programs had a higher prevalence of anencephaly, anophthalmia/microphthalmia, cleft lip with or without cleft palate, reduction defect of upper limbs, and trisomy 18.
PubMedID- 25444729 cleft lip with or without cleft palate is the most common congenital malformation of the head and neck.
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- 21248356 cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with tbx22 mutations.
PubMedID- 26507587 Interactions between rad51 rs1801321 and maternal cigarette smoking as risk factor for nonsyndromic cleft lip with or without cleft palate.
PubMedID- 22288914 Genotype and haplotype analysis of wnt genes in non-syndromic cleft lip with or without cleft palate.
PubMedID- 26043427 Association between polymorphisms at the grem1 locus and the risk of nonsyndromic cleft lip with or without cleft palate in the polish population.
PubMedID- 22044123 Nonsyndromic cleft lip with or without cleft palate (nscl/p) is one of the most common congenital malformations and a susceptibility locus on chromosome 8q24 has been replicated as a genetic risk factor for nscl/p in patients of european and asian descent.
PubMedID- 22487822 Objective: to assess the association between polymorphism of interferon regulatory factor 6 (irf6) gene rs2235371 locus and nonsyndromic cleft lip with or without cleft palate in chinese population.
PubMedID- 25704602 Identification of functional variants for cleft lip with or without cleft palate in or near pax7, fgfr2, and nog by targeted sequencing of gwas loci.
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- 21197815 Results: the calculated incidence of non-syndromal orofacial clefts was 1.69 per thousand live births, comprising 0.85 for cleft lip with or without cleft palate (cl[p]) and and 0.84 for isolated cleft palate (cp).
PubMedID- 22750566 We have applied a gwas to 40 consanguineous families segregating cases of non-syndromic cleft lip with or without cleft palate (ns cl/p) (a total of 160 affected and unaffected individuals) in order to trace potential recessive loci that confer susceptibility to this common facial malformation.
PubMedID- 23166094 Nonsyndromic cleft lip with or without cleft palate (nscl/p) is one of the most common craniofacial malformation in humans.
PubMedID- 21423016 Probandwise concordance rates and heritability for twins were estimated for 2 phenotypes--cleft lip with or without cleft palate (cl/p) and cleft palate (cp).
PubMedID- 21045959 On the basis of this data, we conclude that irf6 should be screened when any doubt rises about the normality of the lower lip and also if a non-syndromic cleft lip patient (with or without cleft palate) has a family history suggestive of autosomal dominant inheritance.
PubMedID- 24634360 Nonsyndromic cleft lip with or without cleft palate in arab populations: genetic analysis of 15 risk loci in a novel case-control sample recruited in yemen.
PubMedID- 21926056 No association was observed for maternal bronchodilator use and the risk of cleft lip with cleft palate (aor = 0.78, 95% ci: 0.46-1.31).
PubMedID- 26042903 The anomalies and physical features that are discussed include birth parameters, aplasia cutis congenita, holoprosencephaly, asymmetric crying facies, preauricular ear tags and pits, cleft lip with or without cleft palate, esophageal atresia/tracheoesophageal fistula, congenital heart defects, ventral wall defects, and polydactyly.
PubMedID- 19691087 cleft lip with or without cleft palate showed a different pattern by gender, urban-rural classification, and geographic location when compared to cleft palate, particularly for nonsyndromic cases.
PubMedID- 21969361 The ors for cleft lip with or without cleft palate and cleft palate and dqi were also notable (0.66 [95% ci, 0.54-0.81] and 0.74 [95%ci, 0.56-0.96], respectively).
PubMedID- 25322573 Objective: to assess the association between polymorphism of methylenetetrahydrofolate reductase (mthfr) gene c677t locus and nonsyndromic cleft lip with or without cleft palate (nscl/p) in shanxi province of china.
PubMedID- 23023602 Transforming growth factor-beta3 intron 5 polymorphism as a screening marker for non-syndromic cleft lip with or without cleft palate.
PubMedID- 26023668 [1], the estimated incidence of cleft lip with cleft palate (clp) in the united states was 10.5 per 10,000 live births and that of cpo was 6.4 per 10,000 live births.
PubMedID- 21431856 Our aim was to evaluate whether the transcription factor hand2 could be implicated in non-syndromic cleft lip with or without cleft palate (cl/p) aetiology.
PubMedID- 21885341 Four gwas of nonsyndromic cleft lip with or without cleft palate have been conducted, and these have identified five new chromosomal loci.
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- 22511506 Background: nonsyndromic cleft lip with or without cleft palate is a relatively common craniofacial defect with multifactorial inheritance.
PubMedID- 24764755 cleft palate with or without cleft lip and hypotonia.
PubMedID- 25721952 We stratified the descriptive results by cleft type [cleft lip with cleft palate, cleft lip, and cleft palate] and by isolated versus nonisolated ofc (accompanied by other coded major birth defects).
PubMedID- 22953299 cleft palate with or without cleft lip has been found to be the most frequent anomaly in popliteal pterygium syndrome, being present in 91 to 97% of cases.
PubMedID- 22138420 Background: peri-conceptional use of folic acid contributes to protection against congenital malformations, such as neural tube defects and cleft lip with or without cleft palate (cl/p).
PubMedID- 22875508 Objective: to explore the association between parental genetic polymorphism of methylenetetrahydrofolate reductase (mthfr) 677c/t and occurrence of nonsyndromic cleft lip with or without cleft palate (nscl/p) in offspring in shandong province.

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