Published in Eur J Med Genet on September 15, 2007
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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
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Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am J Hum Genet (2002) 2.49
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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
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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
Pluripotent stem cells derived from adult human testes. Stem Cells Dev (2009) 1.71
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. Acta Neuropathol (2008) 1.64
Prediction of liver fibrosis in patients with features of the metabolic syndrome regardless of alcohol consumption. Hepatology (2004) 1.58
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
Diagnosis and management of fragile X syndrome. Am Fam Physician (2005) 1.57
Deletion, methylation, and expression of the NKX3.1 suppressor gene in primary human prostate cancer. Cancer Res (2005) 1.57
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
Attention-deficit/hyperactivity disorder in a population isolate: linkage to loci at 4q13.2, 5q33.3, 11q22, and 17p11. Am J Hum Genet (2004) 1.49
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
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. Hum Mutat (2004) 1.41
Central nervous system and limb anomalies in case reports of first-trimester statin exposure. N Engl J Med (2004) 1.39
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatr Res (2005) 1.38
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
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet (2007) 1.30
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
ERRgamma mediates tamoxifen resistance in novel models of invasive lobular breast cancer. Cancer Res (2008) 1.24
Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1. Dev Med Child Neurol (2012) 1.24
Overexpression of the nuclear receptor coactivator AIB1 (SRC-3) during progression of pancreatic adenocarcinoma. Clin Cancer Res (2004) 1.24
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism. Hum Mutat (2009) 1.23
Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients. Am J Med Genet C Semin Med Genet (2010) 1.23
Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly. Mol Genet Metab (2009) 1.21
Hormone-induced chromosomal instability in p53-null mammary epithelium. Cancer Res (2004) 1.21
Synergistic role of Ku80 and poly(ADP-ribose) polymerase in suppressing chromosomal aberrations and liver cancer formation. Cancer Res (2002) 1.20
Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress. Eur J Med Genet (2008) 1.19
Mutations in the human SIX3 gene in holoprosencephaly are loss of function. Hum Mol Genet (2008) 1.19
Glutathione S-transferase pi amplification is associated with cisplatin resistance in head and neck squamous cell carcinoma cell lines and primary tumors. Cancer Res (2003) 1.18
Latent class subtyping of attention-deficit/hyperactivity disorder and comorbid conditions. J Am Acad Child Adolesc Psychiatry (2008) 1.17
First-trimester diagnosis of Bartsocas-Papas syndrome (BPS) by transvaginal ultrasound: case report and review of the literature. Prenat Diagn (2003) 1.16
Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes. Hum Genet (2005) 1.14
BRCA1 inhibition of telomerase activity in cultured cells. Mol Cell Biol (2003) 1.12
Attention-deficit/hyperactivity disorder and comorbid disruptive behavior disorders: evidence of pleiotropy and new susceptibility loci. Biol Psychiatry (2006) 1.12
Amplification of the steroidogenic factor 1 gene in childhood adrenocortical tumors. J Clin Endocrinol Metab (2004) 1.12
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. J Med Genet (2009) 1.10
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. Hum Genet (2002) 1.09
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. Am J Hum Genet (2009) 1.09
Androgen-regulated and highly tumorigenic human prostate cancer cell line established from a transplantable primary CWR22 tumor. Clin Cancer Res (2008) 1.08
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
New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases. J Med Genet (2011) 1.04
SF-1 overexpression in childhood adrenocortical tumours. Eur J Cancer (2006) 1.04
How a Hedgehog might see holoprosencephaly. Hum Mol Genet (2003) 1.03
Loss of heterozygosity in normal breast epithelial tissue and benign breast lesions in BRCA1/2 carriers with breast cancer. Cancer Genet Cytogenet (2004) 1.03
Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects. J Pediatr Psychol (2006) 1.03
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series. Eur J Med Genet (2009) 1.02
Functional analysis of mutations in TGIF associated with holoprosencephaly. Mol Genet Metab (2006) 1.02
Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE). Am J Med Genet C Semin Med Genet (2010) 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
Holoprosencephaly: recommendations for diagnosis and management. Curr Opin Pediatr (2010) 1.02
Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans. Hum Genet (2009) 1.01
Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature. Am J Med Genet C Semin Med Genet (2010) 1.01
Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus. Am J Hum Genet (2011) 1.00
Review: Genetics of attention deficit/hyperactivity disorder. J Pediatr Psychol (2008) 1.00
Cooperation of tumor-derived HBx mutants and p53-249(ser) mutant in regulating cell proliferation, anchorage-independent growth and aneuploidy in a telomerase-immortalized normal human hepatocyte-derived cell line. Int J Cancer (2010) 1.00
Genome-wide multi-omics profiling of colorectal cancer identifies immune determinants strongly associated with relapse. Front Genet (2013) 0.99
Detection of LOH and mitochondrial DNA alterations in ductal lavage and nipple aspirate fluids from hngh-risk patients. Breast Cancer Res Treat (2004) 0.99
Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH. Hum Genet (2011) 0.98
NOTCH, a new signaling pathway implicated in holoprosencephaly. Hum Mol Genet (2010) 0.98
Holoprosencephaly due to numeric chromosome abnormalities. Am J Med Genet C Semin Med Genet (2010) 0.98
Diprosopus: a unique case and review of the literature. Teratology (2002) 0.97
Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility. Am J Med Genet B Neuropsychiatr Genet (2010) 0.96
Frequent loss of heterozygosity at the interferon regulatory factor-1 gene locus in breast cancer. Breast Cancer Res Treat (2009) 0.95
Attention-deficit/hyperactivity disorder and comorbidities in 18 Paisa Colombian multigenerational families. J Am Acad Child Adolesc Psychiatry (2004) 0.95
Attention deficit/hyperactivity disorder (ADHD): complex phenotype, simple genotype? Genet Med (2004) 0.94
SIX3 mutations with holoprosencephaly. Am J Med Genet A (2006) 0.94
Immortalization and transformation of human mammary epithelial cells by a tumor-derived Myc mutant. Breast Cancer Res Treat (2008) 0.94
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
Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia. Int J Pediatr Otorhinolaryngol (2010) 0.91
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
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