| scholarly article | Q13442814 |
| P2093 | author name string | J C Murray | |
| M K Johnson | |||
| P J de Jong | |||
| E J Lammer | |||
| R Pfundt | |||
| A C Lidral | |||
| B M Riley | |||
| A Borg | |||
| K Osoegawa | |||
| E F P M Schoenmakers | |||
| B C Schutte | |||
| M A Mansilla | |||
| J Staaf | |||
| G M Vessere | |||
| J L'Heureux | |||
| K H Utami | |||
| W A van der Vliet | |||
| P2860 | cites work | Initial sequencing and analysis of the human genome | Q21045365 |
| Medical sequencing of candidate genes for nonsyndromic cleft lip and palate | Q21563465 | ||
| A bacterial artificial chromosome library for sequencing the complete human genome | Q22065763 | ||
| Fine-scale structural variation of the human genome | Q22122044 | ||
| A physical map of the human genome | Q22122382 | ||
| Mutations in a new member of the chromodomain gene family cause CHARGE syndrome | Q24300737 | ||
| Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes | Q24600400 | ||
| A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41 | Q24629476 | ||
| Global variation in copy number in the human genome | Q24658083 | ||
| Impaired FGF signaling contributes to cleft lip and palate | Q24683257 | ||
| Detection of large-scale variation in the human genome | Q28131803 | ||
| Segmental duplications and copy-number variation in the human genome | Q28253048 | ||
| Large-scale copy number polymorphism in the human genome | Q28273726 | ||
| SUMO1 haploinsufficiency leads to cleft lip and palate | Q28586545 | ||
| Disruption of Fgf10/Fgfr2b-coordinated epithelial-mesenchymal interactions causes cleft palate | Q28587665 | ||
| High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays | Q29615979 | ||
| Characteristic distribution of immunoreaction for estrogen receptor alpha in rat ameloblasts | Q33213479 | ||
| Gene prioritization through genomic data fusion | Q33242612 | ||
| Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. | Q33998487 | ||
| Diagnostic genome profiling in mental retardation | Q34114527 | ||
| Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients | Q34612125 | ||
| Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts | Q35628338 | ||
| Orofacial clefting: recent insights into a complex trait | Q36139769 | ||
| A set of BAC clones spanning the human genome | Q36827709 | ||
| Multiplex relative risk and estimation of the number of loci underlying an inherited disease | Q37203999 | ||
| Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion | Q38348016 | ||
| Intracellular dynamics of Smad‐mediated TGFβ signaling | Q38350220 | ||
| A novel 22q11.2 microdeletion in DiGeorge syndrome | Q43218288 | ||
| Isolated oral cleft malformations: associations with maternal and infant characteristics in a California population | Q46593563 | ||
| Evidence for a microdeletion in 1q32-41 involving the gene responsible for Van der Woude syndrome | Q48083683 | ||
| Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome | Q48212743 | ||
| Rapid detection of the 22q11.2 deletion with quantitative real-time PCR. | Q52066085 | ||
| Cross-talk between transforming growth factor-beta and estrogen receptor signaling through Smad3. | Q53395804 | ||
| Common deletion polymorphisms in the human genome. | Q54618648 | ||
| Integration of cytogenetic landmarks into the draft sequence of the human genome | Q55898423 | ||
| Common deletions and SNPs are in linkage disequilibrium in the human genome | Q57264082 | ||
| A high-resolution survey of deletion polymorphism in the human genome | Q94465012 | ||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | cleft lip | Q12050056 |
| P304 | page(s) | 81-86 | |
| P577 | publication date | 2007-09-14 | |
| P1433 | published in | Journal of Medical Genetics | Q14640281 |
| P1476 | title | Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation | |
| P478 | volume | 45 |
| Q50892770 | A Novel Interferon Regulatory Factor 6 Mutation in an Asian Family With Van der Woude Syndrome. |
| Q33903341 | A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients |
| Q34627380 | A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts |
| Q31151570 | A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk |
| Q35557112 | A genome-wide study of inherited deletions identified two regions associated with nonsyndromic isolated oral clefts |
| Q33582105 | A male with unilateral microphthalmia reveals a role for TMX3 in eye development |
| Q37708384 | An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects. |
| Q87985248 | Application of high-resolution array platform for genome-wide copy number variation analysis in patients with nonsyndromic cleft lip and palate |
| Q89547721 | Brain-Wide Genome-Wide Association Study for Alzheimer's Disease via Joint Projection Learning and Sparse Regression Model |
| Q57115398 | Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children |
| Q33797160 | Chromosomal abnormalities among children born with conotruncal cardiac defects |
| Q26859417 | Cleft lip - a comprehensive review |
| Q33671456 | Cleft lip and palate genetics and application in early embryological development |
| Q24601804 | Cleft lip and palate: understanding genetic and environmental influences |
| Q36519276 | Clinical Aspects associated with Syndromic forms of Orofacial Clefts in a Colombian population |
| Q36599902 | Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex |
| Q36807618 | Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney. |
| Q37409808 | Current concepts in genetics of nonsyndromic clefts |
| Q37116431 | De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus |
| Q35135063 | Developmental microRNA expression profiling of murine embryonic orofacial tissue |
| Q37774347 | Diazepam effects on non-syndromic cleft lip with or without palate: epidemiological studies, clinical findings, genes and extracellular matrix. |
| Q35921367 | Discovery of candidate genes for nonsyndromic cleft lip palate through genome-wide linkage analysis of large extended families in the Malay population |
| Q30482616 | ENDEAVOUR update: a web resource for gene prioritization in multiple species |
| Q55053028 | Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. |
| Q38650987 | Gene expression profiling analysis contributes to understanding the association between non-syndromic cleft lip and palate, and cancer |
| Q38112901 | Genetic architecture of reciprocal CNVs |
| Q47224735 | Genetic basis of human congenital anomalies of the kidney and urinary tract |
| Q38731983 | Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play. |
| Q37587513 | Genetics of cleft lip and cleft palate. |
| Q36219320 | Genetics of nonsyndromic orofacial clefts |
| Q38154243 | Genomic approaches for studying craniofacial disorders |
| Q26799998 | Genomic expression in non syndromic cleft lip and palate patients: A review |
| Q24314581 | Haploinsufficiency of TAB2 causes congenital heart defects in humans |
| Q33960825 | Haploinsufficiency of insulin gene enhancer protein 1 (ISL1) is associated with d-transposition of the great arteries |
| Q49834334 | Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans. |
| Q35221422 | 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 |
| Q55166864 | Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects. |
| Q52654975 | Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation. |
| Q84357243 | Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate |
| Q28088384 | New insights into craniofacial malformations |
| Q50303585 | Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics |
| Q41712154 | Predictor(s) of Abnormal Array Comparative Genomic Hybridization Results in Patients With Cleft Lip and/or Palate. |
| Q38089841 | Prenatal diagnosis by array-comparative genomic hybridization |
| Q24645286 | Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome |
| Q39128096 | Renal agenesis in Kallmann syndrome: a network approach |
| Q35613136 | Risk of breast cancer in families with cleft lip and palate |
| Q37298164 | SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant |
| Q33948170 | Search for genomic alterations in monozygotic twins discordant for cleft lip and/or palate |
| Q57828161 | Submicroscopic Chromosomal Copy Number Variations Identified in Children With Hypoplastic Left Heart Syndrome |
| Q39271331 | Tbx1 regulates oral epithelial adhesion and palatal development. |
| Q90712113 | The copy number variation landscape of congenital anomalies of the kidney and urinary tract |
| Q37383066 | The etiopathogenesis of cleft lip and cleft palate: usefulness and caveats of mouse models |
Search more.