eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cleft palate |
| Symptom | |cleft lip |
| Sentences | 274 |
| PubMedID- 24941352 | Results and conclusions : rates for cleft lip with or without cleft palate and cleft palate only have been very stable over the 33-year period (1980 through 2011). |
| PubMedID- 22288914 | Genotype and haplotype analysis of wnt genes in non-syndromic cleft lip with or without cleft palate. |
| PubMedID- 21132229 | Results: high frequencies regional analysis showed the following significant results: pam: severe hypospadias; cen: spina bifida, microtia, cleft lip with cleft palate, polycystic kidney, postaxial polydactyly and down syndrome; cuy: postaxial polydactyly; noa: omphalocele, gastroschisis, cleft lip without cleft palate, cleft lip with cleft palate, anorectal atresia/stenosis, indeterminate sex, preaxial polydactyly and pectoral agenesis; pat: cleft lip without cleft palate. |
| PubMedID- 26221921 | The 19-bp deletion polymorphism of dihydrofolate reductase (dhfr) and nonsyndromic cleft lip with or without cleft palate: evidence for a protective role. |
| PubMedID- 26454948 | Relationship between genetic polymorphisms of irf6 rs642961 and nonsysdromic cleft lip with or without cleft palate. |
| PubMedID- 23900075 | Defects such as cleft lip with or without cleft palate (cl/p) are among the most common craniofacial birth defects in humans. |
| 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 (clp) and and 0.84 for isolated cleft palate (cp). |
| PubMedID- 25171615 | Aim of study: the aim of this study was to investigate the contribution of reported candidate genes: vax1 (rs7078160) and bmp4 (rs762642) to the risk of cleft lip with or without cleft palate in the polish population. |
| PubMedID- 23961635 | Results: among the 27 male and 27femalepatients, 51.85% had cleft lip with cleft palate. |
| PubMedID- 24206222 | Our analysis provides evidence that defection of cell cycle may result in the common etiology of oral cancer and cleft palate with cleft lip in the view of high activity of cell proliferation both in cancer cell and embryonic palatal shelf. |
| PubMedID- 24942095 | Non-syndromic cleft lip with or without cleft palate (nscl/p) is the most common craniofacial malformation, with an incidence of about 1/700 live births, although variable according to ethnicity. |
| 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. |
| PubMedID- 20662561 | Nonsyndromic cleft lip with or without cleft palate (nscl/p) has a complex etiology, which involves both genetic and environmental factors. |
| PubMedID- 21425073 | Of all patients, 40 persons (22.6%) had isolated cp, 45 (25.4%) had cleft lip without cleft palate, and 92 (52%) had cleft lip with cleft palate (cl+p). |
| PubMedID- 22455396 | Pvrl1 as a candidate gene for nonsyndromic cleft lip with or without cleft palate: no evidence for the involvement of common or rare variants in southern han chinese patients. |
| 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- 20564431 | Introduction: nonsyndromic cleft lip with or without cleft palate (nscl/p) is one of the most common of all birth defects. |
| PubMedID- 22044123 | Case-control and family-based association studies of novel susceptibility locus 8q24 in nonsyndromic cleft lip with or without cleft palate in a southern han chinese population located in guangdong province. |
| PubMedID- 25007034 | The birth prevalence of cleft lip with or without cleft palate was significantly higher in boys, with a stable boy to girl ratio of 1.75:1. |
| PubMedID- 20826065 | The prevalence of cleft lip with or without cleft palate (cl/p) at birth varied from 3.4-22.9 per 10000 births according to different geography and ethnic groups. |
| PubMedID- 22953143 | Other less common abnormalities include cleft palate with or without cleft lip and unilateral or bilateral choanal stenosis or atresia. |
| PubMedID- 20815715 | Unilateral cleft lip with cleft palate (41%) was the most frequent cleft subtype, followed by cleft lip and/or cleft alveolus (33%); isolated submucous cleft palate (1%) was the least frequent. |
| PubMedID- 25663376 | Genome-wide association studies (gwas) for nonsyndromic cleft lip with or without cleft palate (cl/p) have identified multiple genes as important in the etiology of this common birth defect. |
| PubMedID- 21044801 | Objective: studies in mice and humans have suggested that sumo1, which codes for the small ubiquitin-related modifier 1 (sumo1), is a promising candidate gene for non-syndromic cleft lip with or without cleft palate (nscl/p). |
| PubMedID- 21989583 | Nonsyndromic cleft lip with or without cleft palate or isolated cleft palate show an incomplete separation of the oral cavity and the nasal space without any additional malformations. |
| PubMedID- 19860507 | Filipino explanatory models of cleft lip with or without cleft palate. |
| PubMedID- 21760670 | Compared cleft palate patients with cleft lip, alveolus and palate patients, but there was no cleft lip group included. |
| PubMedID- 25471993 | cleft lip with or without cleft palate (clp and cl, respectively) and isolated cleft palate (cp) represent one of the most common human birth defects, with a prevalence of approximately 1 in 300-2500 depending on the population. |
| PubMedID- 23355017 | Objective: this study aims to evaluate the use of fetal brain magnetic resonance imaging (mri) following an antenatal sonographic diagnosis of isolated cleft lip with or without cleft palate (cl/p). |
| PubMedID- 26451072 | Methods: we used a population-based sample of 377 case-parent trios of cleft lip with or without cleft palate (cl/p) and 762 control-parent trios from norway (1996-2001) to investigate whether variants in gabbr2, ddc and chrna4 are associated with maternal first-trimester smoking and with clefting risk. |
| 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- 20103790 | Detection rates between both health insurance schemes (public and nonpublic) did not show significant differences, but anencephaly, spina bifida, renourinary defects, and cleft lip with or without cleft palate were detected earlier in patients from nonpublic rather than in public hospitals. |
| PubMedID- 20506229 | Expression and association data strongly support jarid2 involvement in nonsyndromic cleft lip with or without cleft palate. |
| PubMedID- 23509905 | Objective : to further confirm the association between two irf6 single nucleotide polymorphisms and nonsyndromic cleft lip with or without cleft palate in a chinese population. |
| PubMedID- 21638763 | Non-syndromic cleft lip with or without cleft palate (ns cl/p) is a complex disease in which heritability estimates vary widely depending on the population studied. |
| PubMedID- 20635363 | Based on association and sequencing studies, investigators have postulated muscle segment homeobox 1 (msx1) as a strong candidate gene involved in the causation of nonsyndromic cleft lip with or without cleft palate (nsclp). |
| PubMedID- 25713581 | We apply pix-lrt to publically available data from an international consortium of genotyped families affected by the birth defect oral cleft and find a strong, internally-replicated signal for a snp marker related to cleft lip with or without cleft palate. |
| PubMedID- 24799419 | Evidence from biological and human studies strongly supports a role for mmp and mp genes as candidate genes for non-syndromic cleft lip with or without cleft palate (nscl/p). |
| PubMedID- 20949503 | Clinical features include short stature, hypertelorism, low set ears, cleft lip with cleft palate, short neck, truncus arteriosus, micropenis, clubfoot, over riding toes on right foot, four digits on left foot and growth delay. |
| PubMedID- 21039911 | cleft lip with or without cleft palate, cleft palate, cardiovascular cas, oesophageal atresia/stenosis, hypospadias and multiple cas showed a higher risk in the offspring of pregnant women with epilepsy treated with different antiepileptic drugs, explained mainly by polytherapy. |
| PubMedID- 21859473 | The most common phenotypic features observed in these patients are mild to severe mental retardation, developmental delay, a high arched or cleft palate (in some cases with a cleft lip), and hypertelorism. |
| PubMedID- 22404957 | Objective : to evaluate the long-term maxillomandibular changes after maxillary distraction osteogenesis in growing children having cleft lip with or without cleft palate. |
| PubMedID- 22909240 | Since the 1980s, prenatal detection of cleft lip with or without cleft palate (clp) is possible with a transabdominal ultrasound. |
| PubMedID- 21969361 | The ors for cleft lip with or without cleft palate and cleft palate and dqi were also notable (0.66 and 0.74 , respectively). |
| PubMedID- 24804503 | The present study was aimed to explore the relationship of transforming growth factor (tgf) beta3 gene sfani polymorphism (rs3917201 locus) and non-syndromic cleft lip with or without cleft palate (nscl/p) in people of the uygur's nationality and han's in xinjiang, china. |
| PubMedID- 23940636 | Nonsyndromic cleft lip with or without cleft palate (nscl/p) are common birth defects with a complex etiology. |
| PubMedID- 20828271 | This rose to 28% when only the cases of cleft lip with or without cleft palate (cl +/- p) were considered. |
| PubMedID- 23371247 | Risk for birth defects was substantially increased among some obese mothers (bmi >/=30) (e.g., spina bifida, tetralogy of fallot, cleft lip with or without cleft palate, hypospadias, and epispadias). |
| 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- 20681225 | There was bilateral cleft lip with cleft palate. |