Published in Am J Med Genet A on July 01, 2006
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. PLoS Genet (2010) 2.14
Coding exons function as tissue-specific enhancers of nearby genes. Genome Res (2012) 1.64
Functional characterization of tissue-specific enhancers in the DLX5/6 locus. Hum Mol Genet (2012) 1.11
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism. Eur J Hum Genet (2009) 0.97
A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. Hum Genet (2007) 0.91
Identification of differentially expressed genes in early inner ear development. Gene Expr Patterns (2009) 0.89
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families. Orphanet J Rare Dis (2014) 0.89
Split-hand/foot malformation - molecular cause and implications in genetic counseling. J Appl Genet (2013) 0.84
Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation. Eur J Hum Genet (2014) 0.83
Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene. PLoS One (2012) 0.83
Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation. BMC Med Genet (2013) 0.79
Phenotypic subregions within the split-hand/foot malformation 1 locus. Hum Genet (2016) 0.77
Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development. Philos Trans R Soc Lond B Biol Sci (2016) 0.77
Sp6 and Sp8 transcription factors control AER formation and dorsal-ventral patterning in limb development. PLoS Genet (2014) 0.77
Recurrent Streptococcus Pneumoniae Meningitis in a Child with Split Hand and Foot Malformation and Undiagnosed Mondini Dysplasia. J Dev Phys Disabil (2015) 0.75
A novel description of a syndrome consisting of 7q21.3 deletion including DYNC1I1 with preserved DLX5/6 without ectrodactyly: a case report. J Med Case Rep (2016) 0.75
Wassel's Type V Polydactyly with Plain Radiographic and CT Findings. J Clin Imaging Sci (2015) 0.75
Signaling pathways and tissue interactions in neural plate border formation. Neurogenesis (Austin) (2017) 0.75
Dlx5 Homeodomain:DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome. J Mol Biol (2016) 0.75
Left hand polydactyly: a case report. Cases J (2008) 0.75
Reduction in neural-tube defects after folic acid fortification in Canada. N Engl J Med (2007) 3.18
Spina bifida before and after folic acid fortification in Canada. Birth Defects Res A Clin Mol Teratol (2008) 1.04
The oxygen isotope relationship between the phosphate and structural carbonate fractions of human bioapatite. Rapid Commun Mass Spectrom (2012) 1.02
Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases. Am J Med Genet A (2003) 0.96
Triphalangeal thumb in association with split hand/foot: a phenotypic marker for SHFM3? Birth Defects Res A Clin Mol Teratol (2007) 0.92
Trans-Atlantic slavery: isotopic evidence for forced migration to Barbados. Am J Phys Anthropol (2009) 0.89
Very low second-trimester maternal serum alpha-fetoprotein: Association with high birth weight. Obstet Gynecol (2002) 0.87
Continuity or colonization in Anglo-Saxon England? Isotope evidence for mobility, subsistence practice, and status at West Heslerton. Am J Phys Anthropol (2005) 0.85
Derogatory nomenclature is still being used: the example of split hand/foot. Am J Med Genet A (2015) 0.81
The duplicated longitudinal epiphysis or "kissing delta phalanx": evolution and variation in three different disorders. Skeletal Radiol (2004) 0.79
Clinical and epidemiological findings in patients with central ray deficiency: split hand foot malformation (SHFM) in Manitoba, Canada. Am J Med Genet A (2006) 0.78
The association of split hand foot malformation (SHFM) and congenital heart defects. Birth Defects Res A Clin Mol Teratol (2008) 0.78
Impact of folic acid food fortification on the birth prevalence of lipomyelomeningocele in Canada. Birth Defects Res A Clin Mol Teratol (2008) 0.78
Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure. Am J Med Genet A (2003) 0.77
Maternal serum alpha-fetoprotein levels in fetal hydrocephalus: a retrospective population based study. BMC Pregnancy Childbirth (2006) 0.76
The C677T methylenetetrahydrofolate reductase variant and third trimester obstetrical complications in women with unexplained elevations of maternal serum alpha-fetoprotein. Reprod Biol Endocrinol (2004) 0.75
Comment on changes in sex ratio in neural tube defects since food fortification with folic acid: re "hypothesis: the female excess in cranial neural tube defects reflects an epigenetic drag of the inactivating X chromosome on the molecular mechanisms of neural tube fold elevation". Birth Defects Res A Clin Mol Teratol (2012) 0.75
Letter re: fibula aplasia, tibial campomelia, and oligodactyly. Am J Med Genet A (2006) 0.75
Screening for open neural tube defects from 21 to 25 weeks' gestation: the Manitoba experience. Prenat Diagn (2005) 0.75
Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome. Clin Dysmorphol (2004) 0.75
Multiple congenital anomalies: issues for birth defects surveillance. J Registry Manag (2014) 0.75