Published in Curr Opin Pediatr on December 01, 2010
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Septopreoptic holoprosencephaly: a mild subtype associated with midline craniofacial anomalies. AJNR Am J Neuroradiol (2010) 0.88
Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature. Am J Med Genet C Semin Med Genet (2010) 0.87
Holoprosencephaly: An update on cytogenetic abnormalities. Am J Med Genet C Semin Med Genet (2010) 0.87
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Early pathogenesis of holoprosencephaly. Am J Med Genet C Semin Med Genet (2010) 0.83
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Identification of Hedgehog signaling inhibitors with relevant human exposure by small molecule screening. Toxicol In Vitro (2010) 0.81
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A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers. Development (2006) 2.90
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am J Hum Genet (2002) 2.49
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Association between conformational mutations in neuroserpin and onset and severity of dementia. Lancet (2002) 2.02
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci U S A (2003) 1.98
A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. Hum Mol Genet (2005) 1.89
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet (2002) 1.88
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet (2002) 1.80
Adverse birth outcome among mothers with low serum cholesterol. Pediatrics (2007) 1.58
The molecular genetics of holoprosencephaly. Am J Med Genet C Semin Med Genet (2010) 1.57
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Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am J Med Genet A (2003) 1.54
Analysis of genotype-phenotype correlations in human holoprosencephaly. Am J Med Genet C Semin Med Genet (2010) 1.51
Cbfbeta interacts with Runx2 and has a critical role in bone development. Nat Genet (2002) 1.50
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Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet (2008) 1.48
Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein. Nat Genet (2008) 1.45
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum. Am J Med Genet A (2011) 1.44
Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly. Am J Hum Genet (2008) 1.43
Central nervous system and limb anomalies in case reports of first-trimester statin exposure. N Engl J Med (2004) 1.39
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am J Hum Genet (2002) 1.36
Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. Am J Med Genet A (2008) 1.32
The decision to continue: the experiences and needs of parents who receive a prenatal diagnosis of holoprosencephaly. Am J Med Genet (2002) 1.28
Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors. Am J Hum Genet (2011) 1.25
Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1. Dev Med Child Neurol (2012) 1.24
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A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. Hum Genet (2002) 1.09
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet A (2007) 1.07
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Am J Hum Genet (2010) 1.06
A novel SIX3 mutation segregates with holoprosencephaly in a large family. Am J Med Genet A (2009) 1.05
Fetal alcohol spectrum disorders. Am Fam Physician (2005) 1.04
How a Hedgehog might see holoprosencephaly. Hum Mol Genet (2003) 1.03
Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects. J Pediatr Psychol (2006) 1.03
Functional analysis of mutations in TGIF associated with holoprosencephaly. Mol Genet Metab (2006) 1.02
Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia. Am J Med Genet A (2009) 1.02
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Review: Genetics of attention deficit/hyperactivity disorder. J Pediatr Psychol (2008) 1.00
Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH. Hum Genet (2011) 0.98
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Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility. Am J Med Genet B Neuropsychiatr Genet (2010) 0.96
Attention-deficit/hyperactivity disorder and comorbidities in 18 Paisa Colombian multigenerational families. J Am Acad Child Adolesc Psychiatry (2004) 0.95
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Klinefelter syndrome. Am Fam Physician (2005) 0.93
A common genetic network underlies substance use disorders and disruptive or externalizing disorders. Hum Genet (2012) 0.92
SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity. Hum Genet (2003) 0.90
Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism. Am J Med Genet C Semin Med Genet (2010) 0.90
Gestational exposure to lovastatin followed by cardiac malformation misclassified as holoprosencephaly. N Engl J Med (2005) 0.90
ADHD latent class clusters: DSM-IV subtypes and comorbidity. Psychiatry Res (2009) 0.89
Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions. Mol Genet Metab (2012) 0.89
Additional EFNB1 mutations in craniofrontonasal syndrome. Am J Med Genet A (2008) 0.89
From the black widow spider to human behavior: Latrophilins, a relatively unknown class of G protein-coupled receptors, are implicated in psychiatric disorders. Am J Med Genet B Neuropsychiatr Genet (2010) 0.88
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Potential cognitive endophenotypes in multigenerational families: segregating ADHD from a genetic isolate. Atten Defic Hyperact Disord (2011) 0.86
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FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis. Hum Genet (2004) 0.84
Holoprosencephaly: a guide to diagnosis and clinical management. Indian Pediatr (2011) 0.83
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Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia. Am J Med Genet A (2010) 0.82
Abnormal sterol metabolism in holoprosencephaly. Am J Med Genet C Semin Med Genet (2010) 0.82
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Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolate. Atten Defic Hyperact Disord (2009) 0.81
Individualized genomics and the future of translational medicine. Mol Genet Genomic Med (2013) 0.81
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Phenotype profile of a genetic mouse model for Muenke syndrome. Childs Nerv Syst (2012) 0.80
Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly. J Craniofac Surg (2015) 0.79
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Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2. Am J Med Genet A (2011) 0.79
Clinical utility gene card for: Holoprosencephaly. Eur J Hum Genet (2010) 0.79
The pit, the cleft and the web. Nat Genet (2002) 0.79
Maternally inherited heterozygous sequence change in the sonic hedgehog gene in a male patient with bilateral closed-lip schizencephaly and partial absence of the corpus callosum. Am J Med Genet A (2009) 0.79
Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. Childs Nerv Syst (2012) 0.79
Genetics and genomic medicine around the world. Mol Genet Genomic Med (2014) 0.78
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Holoprosencephaly in an 8.5-week triploidy gestation. Clin Dysmorphol (2009) 0.75