Published in Hum Mol Genet on July 05, 2007
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. Am J Hum Genet (2009) 2.07
Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results. Hum Hered (2009) 1.71
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FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate. Hum Mol Genet (2009) 1.55
Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate. Hum Mol Genet (2008) 1.39
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Testing reported associations of genetic risk factors for oral clefts in a large Irish study population. Birth Defects Res A Clin Mol Teratol (2010) 1.08
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Folate pathway and nonsyndromic cleft lip and palate. Birth Defects Res A Clin Mol Teratol (2010) 1.06
A genome wide linkage scan for cleft lip and palate and dental anomalies. Am J Med Genet A (2008) 0.99
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Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate. Birth Defects Res A Clin Mol Teratol (2010) 0.92
Further evidence of association of the ABCA4 gene with cleft lip/palate. Eur J Oral Sci (2012) 0.90
GWAS reveals new recessive loci associated with non-syndromic facial clefting. Eur J Med Genet (2012) 0.88
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Association of AXIN2 with non-syndromic oral clefts in multiple populations. J Dent Res (2012) 0.87
Ethnic heterogeneity of IRF6 AP-2a binding site promoter SNP association with nonsyndromic cleft lip and palate. Cleft Palate Craniofac J (2010) 0.87
Roles of BMP signaling pathway in lip and palate development. Front Oral Biol (2012) 0.86
Association of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral clefts. Birth Defects Res A Clin Mol Teratol (2012) 0.84
CRISPLD2 is expressed at low levels during septic shock and is associated with procalcitonin. PLoS One (2013) 0.82
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CRISPLD2 variants including a C471T silent mutation may contribute to nonsyndromic cleft lip with or without cleft palate. Cleft Palate Craniofac J (2010) 0.80
Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection. Birth Defects Res A Clin Mol Teratol (2010) 0.79
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Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med (2004) 7.91
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Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet (2002) 6.29
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Distinct functions for Bmp signaling in lip and palate fusion in mice. Development (2005) 2.46
Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population. Am J Hum Genet (2004) 2.06
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SUMO1 haploinsufficiency leads to cleft lip and palate. Science (2006) 2.01
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Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs. Hum Genet (2000) 1.54
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer. Am J Hum Genet (2007) 1.50
Progress toward discerning the genetics of cleft lip. Curr Opin Pediatr (2005) 1.48
Genome scan for loci involved in cleft lip with or without cleft palate, in Chinese multiplex families. Am J Hum Genet (2002) 1.44
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Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9. Hum Mol Genet (2001) 1.25
Investigations of the genomic region that contains the clf1 mutation, a causal gene in multifactorial cleft lip and palate in mice. Birth Defects Res A Clin Mol Teratol (2005) 1.21
Prevalence of nonsyndromic oral clefts in Texas: 1995-1999. Am J Med Genet A (2005) 1.21
Upper beak truncation in chicken embryos with the cleft primary palate mutation is due to an epithelial defect in the frontonasal mass. Dev Dyn (2004) 1.13
NMR structure of the LCCL domain and implications for DFNA9 deafness disorder. EMBO J (2001) 1.11
A genome-wide scan for loci predisposing to non-syndromic cleft lip with or without cleft palate in two large Syrian families. Am J Med Genet A (2003) 1.10
Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion. J Hum Genet (2003) 1.07
A digenic cause of cleft lip in A-strain mice and definition of candidate genes for the two loci. Birth Defects Res A Clin Mol Teratol (2004) 1.07
Genome scan for loci involved in nonsyndromic cleft lip with or without cleft palate in families from West Bengal, India. Am J Med Genet A (2004) 1.06
Genome-scan for loci involved in cleft lip with or without cleft palate in consanguineous families from Turkey. Am J Med Genet A (2004) 1.04
Neural and orofacial defects in Folp1 knockout mice [corrected]. Birth Defects Res A Clin Mol Teratol (2003) 1.00
A genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23. Am J Med Genet A (2007) 0.94
CLCP1 interacts with semaphorin 4B and regulates motility of lung cancer cells. Oncogene (2007) 0.91
Folate and the face: evaluating the evidence for the influence of folate genes on craniofacial development. Cleft Palate Craniofac J (2002) 0.91
Identification of differentially expressed genes in mouse development using differential display and in situ hybridization. Methods (2001) 0.90
Nonsyndromic cleft lip and palate: four chromosomal regions of interest. Am J Med Genet A (2004) 0.90
Novel soluble molecule, Akhirin, is expressed in the embryonic chick eyes and exhibits heterophilic cell-adhesion activity. Dev Dyn (2005) 0.85
Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onset. J Clin Endocrinol Metab (2003) 0.81
Phenytoin-induced cleft palate: evidence for embryonic cardiac bradyarrhythmia due to inhibition of delayed rectifier K+ channels resulting in hypoxia-reoxygenation damage. Teratology (2001) 0.81
Detection and functional analysis of an SNP in the promoter of the human ferritin H gene that modulates the gene expression. Gene (2006) 0.76
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med (2004) 7.91
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. N Engl J Med (2011) 6.34
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet (2002) 6.29
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med (2009) 4.96
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet (2010) 3.63
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet (2012) 3.13
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci (2006) 2.93
Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. Am J Hum Genet (2009) 2.89
Venous malformations of skeletal muscle. Plast Reconstr Surg (2002) 2.79
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. Am J Hum Genet (2004) 2.65
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet (2003) 2.56
Traditional risk factors are not major contributors to the variance in carotid intima-media thickness. Stroke (2013) 2.34
Current management of hemangiomas and vascular malformations. Clin Plast Surg (2005) 2.27
Clinical outcomes and genome-wide association for a brain methylation site in an antidepressant pharmacogenetics study in Mexican Americans. Am J Psychiatry (2014) 2.26
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Hum Mol Genet (2002) 2.26
Achondroplasia. Lancet (2007) 2.22
Intramuscular capillary-type hemangioma: radiologic-pathologic correlation. Pediatr Radiol (2014) 2.16
Corticosteroid suppression of VEGF-A in infantile hemangioma-derived stem cells. N Engl J Med (2010) 2.16
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet (2003) 2.15
Multipotential stem cells recapitulate human infantile hemangioma in immunodeficient mice. J Clin Invest (2008) 2.10
RASA1: variable phenotype with capillary and arteriovenous malformations. Curr Opin Genet Dev (2005) 2.10
Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet (2010) 2.08
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. Am J Hum Genet (2009) 2.07
Validity and reliability of craniofacial anthropometric measurement of 3D digital photogrammetric images. Cleft Palate Craniofac J (2008) 2.02
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat (2008) 2.00
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood (2010) 2.00
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med (2003) 2.00
Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. Nat Genet (2008) 1.95
Early interstitial lung disease in familial pulmonary fibrosis. Am J Respir Crit Care Med (2007) 1.91
Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2006) 1.85
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nat Genet (2013) 1.82
Variation in IRF6 contributes to nonsyndromic cleft lip and palate. Am J Med Genet A (2005) 1.82
TFAP2A mutations result in branchio-oculo-facial syndrome. Am J Hum Genet (2008) 1.79
Kaposiform hemangioendothelioma without Kasabach-Merritt phenomenon. J Am Acad Dermatol (2005) 1.77
Rapamycin suppresses self-renewal and vasculogenic potential of stem cells isolated from infantile hemangioma. J Invest Dermatol (2011) 1.74
Outcome-based residency education: teaching and evaluating the core competencies in plastic surgery. Plast Reconstr Surg (2008) 1.73
Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities. Arch Dermatol (2004) 1.73
Increased expression of urinary matrix metalloproteinases parallels the extent and activity of vascular anomalies. Pediatrics (2005) 1.72
Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results. Hum Hered (2009) 1.71
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). Am J Hum Genet (2002) 1.66
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Eur J Hum Genet (2011) 1.66
Resection of amblyogenic periocular hemangiomas: indications and outcomes. Plast Reconstr Surg (2010) 1.65
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. J Med Genet (2007) 1.64
Kaposiform hemangioendothelioma: atypical features and risks of Kasabach-Merritt phenomenon in 107 referrals. J Pediatr (2012) 1.63
Development of the upper lip: morphogenetic and molecular mechanisms. Dev Dyn (2006) 1.61
Extracranial arteriovenous malformations: natural progression and recurrence after treatment. Plast Reconstr Surg (2010) 1.61
Blue rubber bleb nevus syndrome: surgical eradication of gastrointestinal bleeding. Ann Surg (2005) 1.59
NAT2 variation and idiopathic talipes equinovarus (clubfoot). Am J Med Genet A (2007) 1.57
FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate. Hum Mol Genet (2009) 1.55
Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. N Engl J Med (2014) 1.53
Involvement of the basilar coronal ring in unilateral coronal synostosis. Plast Reconstr Surg (2005) 1.52
Bilateral cleft lip revisions: the Abbe flap. Plast Reconstr Surg (2010) 1.51
Endothelial progenitor cells in infantile hemangioma. Blood (2003) 1.50
Mortality in achondroplasia study: a 42-year follow-up. Am J Med Genet A (2007) 1.49
Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet (2008) 1.48
Progress toward discerning the genetics of cleft lip. Curr Opin Pediatr (2005) 1.48
Support for association between ADHD and two candidate genes: NET1 and DRD1. Am J Med Genet B Neuropsychiatr Genet (2005) 1.47
Follow-up association study of linkage regions reveals multiple candidate genes for carotid plaque in Dominicans. Atherosclerosis (2012) 1.47
Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease. Am J Med Genet A (2013) 1.46
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nat Genet (2004) 1.45
Robin sequence: a retrospective review of 115 patients. Int J Pediatr Otorhinolaryngol (2006) 1.45
Current surgical management of bilateral cleft lip in North America. Plast Reconstr Surg (2012) 1.44
Expression of Wnt9b and activation of canonical Wnt signaling during midfacial morphogenesis in mice. Dev Dyn (2006) 1.44
Gorham-Stout disease and generalized lymphatic anomaly--clinical, radiologic, and histologic differentiation. Skeletal Radiol (2013) 1.44
Hepatic hemangiomas: subtype classification and development of a clinical practice algorithm and registry. J Pediatr Surg (2007) 1.43
Speech outcomes following pharyngeal flap in patients with velocardiofacial syndrome. Plast Reconstr Surg (2011) 1.42
A novel autologous scaffold for diced-cartilage grafts in dorsal augmentation rhinoplasty. Aesthetic Plast Surg (2011) 1.42
Endothelial progenitor cells from infantile hemangioma and umbilical cord blood display unique cellular responses to endostatin. Blood (2006) 1.40
The Changing Nasolabial Dimensions following Repair of Unilateral Cleft Lip: An Anthropometric Study in Late Childhood. Plast Reconstr Surg (2016) 1.40
Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate. Hum Mol Genet (2008) 1.39
Distraction rate and latency: factors in the outcome of pediatric mandibular distraction. Plast Reconstr Surg (2006) 1.39
Wnt9b is the mutated gene involved in multifactorial nonsyndromic cleft lip with or without cleft palate in A/WySn mice, as confirmed by a genetic complementation test. Birth Defects Res A Clin Mol Teratol (2006) 1.39
Primary lymphedema: clinical features and management in 138 pediatric patients. Plast Reconstr Surg (2011) 1.38
Cartilage oligomeric matrix protein/thrombospondin 5 supports chondrocyte attachment through interaction with integrins. J Biol Chem (2005) 1.37
Differential expression of CD146 in tissues and endothelial cells derived from infantile haemangioma and normal human skin. J Pathol (2003) 1.35
Rapidly involuting congenital hemangioma: clinical and histopathologic features. Pediatr Dev Pathol (2004) 1.32
Evidence by molecular profiling for a placental origin of infantile hemangioma. Proc Natl Acad Sci U S A (2005) 1.28
Interaction of cartilage oligomeric matrix protein/thrombospondin 5 with aggrecan. J Biol Chem (2007) 1.27
Mesenchymal stem cells and adipogenesis in hemangioma involution. Stem Cells (2006) 1.25
IGF-2 and FLT-1/VEGF-R1 mRNA levels reveal distinctions and similarities between congenital and common infantile hemangioma. Pediatr Res (2008) 1.25
Heritability and linkage analysis for carotid intima-media thickness: the family study of stroke risk and carotid atherosclerosis. Stroke (2009) 1.24
Management of parotid hemangioma in 100 children. Plast Reconstr Surg (2004) 1.24
Guidelines for the design and analysis of studies on nonsyndromic cleft lip and cleft palate in humans: summary report from a Workshop of the International Consortium for Oral Clefts Genetics. Cleft Palate Craniofac J (2002) 1.23
Verrucous hemangioma revisited. Pediatr Dermatol (2006) 1.22
The presentation and management of nasal dermoid: a 30-year experience. Arch Otolaryngol Head Neck Surg (2003) 1.22
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. Am J Hum Genet (2006) 1.22