Published in Clin Genet on April 08, 2010
The neural crest in cardiac congenital anomalies. Differentiation (2012) 1.17
Kismet/CHD7 regulates axon morphology, memory and locomotion in a Drosophila model of CHARGE syndrome. Hum Mol Genet (2010) 1.00
Architects of the genome: CHD dysfunction in cancer, developmental disorders and neurological syndromes. Epigenomics (2014) 0.82
Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. Am J Med Genet A (2013) 0.82
Chromodomain helicase DNA-binding proteins in stem cells and human developmental diseases. Stem Cells Dev (2015) 0.81
Structural pituitary abnormalities associated with CHARGE syndrome. J Clin Endocrinol Metab (2013) 0.80
Epigenetic regulation in the inner ear and its potential roles in development, protection, and regeneration. Front Cell Neurosci (2015) 0.77
Guilty as CHARGED: p53's expanding role in disease. Cell Cycle (2014) 0.77
Different CHD chromatin remodelers are required for expression of distinct gene sets and specific stages during development of Dictyostelium discoideum. Development (2013) 0.77
Connecting teratogen-induced congenital heart defects to neural crest cells and their effect on cardiac function. Birth Defects Res C Embryo Today (2014) 0.76
Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients. J Hum Genet (2015) 0.75
Chd7 is indispensable for mammalian brain development through activation of a neuronal differentiation programme. Nat Commun (2017) 0.75
Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome. Invest Ophthalmol Vis Sci (2015) 0.75
Radiologic and Audiologic Findings in the Temporal Bone of Patients with CHARGE Syndrome. Ochsner J (2016) 0.75
Versatile Roles of the Chromatin Remodeler CHD7 during Brain Development and Disease. Front Mol Neurosci (2017) 0.75
Epigenetic reprogramming converts human Wharton's jelly mesenchymal stem cells into functional cardiomyocytes by differential regulation of Wnt mediators. Stem Cell Res Ther (2017) 0.75
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet (2004) 6.90
An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination. Nat Genet (1998) 5.95
Chromatin remodelling during development. Nature (2010) 5.86
Retracted A histone lysine methyltransferase activated by non-canonical Wnt signalling suppresses PPAR-gamma transactivation. Nat Cell Biol (2007) 3.97
Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Nat Genet (1999) 3.24
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet (2005) 3.03
Choanal atresia and associated multiple anomalies. J Pediatr (1979) 2.98
CHD7 cooperates with PBAF to control multipotent neural crest formation. Nature (2010) 2.88
An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. Am J Med Genet A (2005) 2.74
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. J Clin Invest (2008) 2.69
The Chd family of chromatin remodelers. Mutat Res (2007) 2.69
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet (1997) 2.68
The SANT domain: a unique histone-tail-binding module? Nat Rev Mol Cell Biol (2004) 2.63
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A (2004) 2.41
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet (2008) 2.33
Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns. Genome Res (2009) 2.31
Abnormal development of the olfactory bulb and reproductive system in mice lacking prokineticin receptor PKR2. Proc Natl Acad Sci U S A (2006) 2.29
The role of Six1 in mammalian auditory system development. Development (2003) 2.22
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet (2005) 2.22
Dependence of olfactory bulb neurogenesis on prokineticin 2 signaling. Science (2005) 2.08
CHARGE syndrome: an update. Eur J Hum Genet (2007) 2.03
Expression and function of FGF10 in mammalian inner ear development. Dev Dyn (2003) 1.95
CHD proteins: a diverse family with strong ties. Biochem Cell Biol (2007) 1.90
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. Am J Med Genet A (2010) 1.82
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet (2005) 1.80
Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome. Eur J Med Genet (2008) 1.77
Drosophila Kismet regulates histone H3 lysine 27 methylation and early elongation by RNA polymerase II. PLoS Genet (2008) 1.75
Multiple mutations in mouse Chd7 provide models for CHARGE syndrome. Hum Mol Genet (2005) 1.71
Netrin 1 is required for semicircular canal formation in the mouse inner ear. Development (2000) 1.65
Fgf8 expression defines a morphogenetic center required for olfactory neurogenesis and nasal cavity development in the mouse. Development (2005) 1.62
Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues. Mamm Genome (2007) 1.58
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. Clin Genet (2008) 1.56
CHARGE Association in newborns: a registry-based study. Teratology (1999) 1.55
The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al. Sex Dev (2008) 1.55
Thymus, kidney and craniofacial abnormalities in Six 1 deficient mice. Mech Dev (2003) 1.52
Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J Pediatr (2006) 1.45
Targeted mutagenesis of the POU-domain gene Brn4/Pou3f4 causes developmental defects in the inner ear. J Neurosci (1999) 1.45
Fibroblast growth factor 8 signaling through fibroblast growth factor receptor 1 is required for the emergence of gonadotropin-releasing hormone neurons. Endocrinology (2008) 1.42
LADD syndrome is caused by FGF10 mutations. Clin Genet (2006) 1.33
CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development. J Clin Endocrinol Metab (2005) 1.28
Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. Am J Hum Genet (2006) 1.27
Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome. Hum Mol Genet (2009) 1.26
Fgf3 is required for dorsal patterning and morphogenesis of the inner ear epithelium. Development (2007) 1.21
Descriptive and experimental analysis of the epithelial remodellings that control semicircular canal formation in the developing mouse inner ear. Dev Biol (1993) 1.19
Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism. Fertil Steril (2006) 1.17
Absent semicircular canals in CHARGE syndrome: radiologic spectrum of findings. AJNR Am J Neuroradiol (2006) 1.13
Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins. J Med Genet (2005) 1.12
Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation. Endocr J (2006) 1.09
Congenital aplasia of the semicircular canals. Otol Neurotol (2003) 1.08
Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. Am J Med Genet A (2008) 1.07
Defects in vestibular sensory epithelia and innervation in mice with loss of Chd7 function: implications for human CHARGE syndrome. J Comp Neurol (2007) 1.06
Olfactory evaluation in children: application to the CHARGE syndrome. Pediatrics (2005) 1.06
Clinical manifestations of impaired GnRH neuron development and function. Neurosignals (2008) 1.05
ENU mutagenesis reveals a highly mutable locus on mouse Chromosome 4 that affects ear morphogenesis. Mamm Genome (2002) 1.03
Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome. Clin Exp Immunol (2008) 1.02
Study of smell and reproductive organs in a mouse model for CHARGE syndrome. Eur J Hum Genet (2009) 1.01
Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome. J Clin Endocrinol Metab (2007) 1.01
Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability. Clin Genet (2007) 1.00
Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development. Eur J Pediatr (2000) 1.00
Epidemiology of choanal atresia with special reference to the CHARGE association. Pediatrics (1997) 0.98
Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness. Arch Otolaryngol Head Neck Surg (2005) 0.98
CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. Clin Genet (2008) 0.97
Prokineticin 2 is a target gene of proneural basic helix-loop-helix factors for olfactory bulb neurogenesis. J Biol Chem (2007) 0.97
Targeted disruption of int-2 (fgf-3) causes developmental defects in the tail and inner ear. Mol Reprod Dev (1994) 0.96
Immunological abnormalities in CHARGE syndrome. Eur J Med Genet (2007) 0.95
Spectrum of hearing disorders and their management in children with CHARGE syndrome. Otol Neurotol (2010) 0.95
Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions. Genet Med (2007) 0.94
Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome. Clin Genet (2009) 0.91
An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome. Am J Med Genet A (2007) 0.90
Two new mouse mutants with vestibular defects that map to the highly mutable locus on chromosome 4. Int J Audiol (2005) 0.90
Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype. Am J Med Genet A (2007) 0.90
Characterization of a new mouse mutant, flouncer, with a balance defect and inner ear malformation. Otol Neurotol (2004) 0.88
Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome. Am J Med Genet A (2010) 0.87
Complete DiGeorge syndrome associated with CHD7 mutation. J Allergy Clin Immunol (2007) 0.87
Abnormal basiocciput development in CHARGE syndrome. AJNR Am J Neuroradiol (2008) 0.86
Radial aplasia in CHARGE syndrome: a new association. Eur J Med Genet (2009) 0.86
CHD7 gene and non-syndromic cleft lip and palate. Am J Med Genet A (2006) 0.85
Vestibular function in children with the CHARGE association. Arch Otolaryngol Head Neck Surg (1999) 0.84
Expanding the "E" in CHARGE. Am J Med Genet A (2008) 0.83
T-cell immunodeficiency in CHARGE syndrome. Acta Paediatr (2008) 0.83
Olfactory anomalies in CHARGE syndrome: imaging findings of a potential major diagnostic criterion. AJNR Am J Neuroradiol (2008) 0.82
Proven germline mosaicism in a father of two children with CHARGE syndrome. Clin Genet (2009) 0.82
MRI of the olfactory bulbs and sulci in human fetuses. Pediatr Radiol (2005) 0.81
Congenital T cell deficiency in a patient with CHARGE syndrome. J Pediatr (2009) 0.81
Partial absence of the posterior semicircular canal in Alagille syndrome: CT findings. Pediatr Radiol (2006) 0.81
Stereoselective bimolecular phenoxy radical coupling by an auxiliary (dirigent) protein without an active center. Science (1997) 2.58
Delineation of two functionally distinct domains of cytosolic phospholipase A2, a regulatory Ca(2+)-dependent lipid-binding domain and a Ca(2+)-independent catalytic domain. J Biol Chem (1994) 1.82
Crystal structure of the extracellular region of human tissue factor. Nature (1994) 1.43
The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells. Hum Mol Genet (2000) 1.29
Glucose modulation of amino acid-induced glucagon and insulin release in the isolated perfused rat pancreas. J Clin Invest (1974) 1.27
Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome. Hum Mol Genet (2009) 1.26
Mass spectrometric identification of a naturally processed melanoma peptide recognized by CD8+ cytotoxic T lymphocytes. J Exp Med (1995) 1.24
SEMA3E mutation in a patient with CHARGE syndrome. J Med Genet (2004) 1.14
Distribution of the mRNAs encoding torsinA and torsinB in the normal adult human brain. Ann Neurol (1999) 1.12
Gold-induced eosinophilic enterocolitis: response to oral cromolyn sodium. Gastroenterology (1981) 1.05
The control of carrier frequency in cricket calls: a refutation of the subalar-tegminal resonance/auditory feedback model. J Exp Biol (2000) 1.05
Frontal lobe dysfunction in progressive supranuclear palsy: evidence for oxidative stress and mitochondrial impairment. J Neurochem (2000) 1.04
Serum isoamylase as a test for pancreatic insufficiency. Gut (1983) 1.00
Glazing and finishing dental porcelain: a literature review. J Can Dent Assoc (1998) 0.99
TRH-induced TSH response in unipolar, bipolar, and secondary depressions: possible utility in clinical assessment and differential diagnosis. Psychoneuroendocrinology (1980) 0.99
Host immune response in renal cell cancer: interleukin-4 (IL-4) and IL-10 mRNA are frequently detected in freshly collected tumor-infiltrating lymphocytes. Cancer Immunol Immunother (1995) 0.98
Surface plasmon resonance studies of the interaction between factor VII and tissue factor. Demonstration of defective tissue factor binding in a variant FVII molecule (FVII-R79Q). Biochemistry (1994) 0.98
A method for the study of internal spaces in hard tissue matrices by SEM, with special reference to dentine. J Microsc (1978) 0.98
Energetic contributions and topographical organization of ligand binding residues of tissue factor. Biochemistry (1995) 0.97
G4 DNA replication. I. Origin of synthesis of the viral and complementary DNA strands. J Mol Biol (1977) 0.97
alpha-actinin-2 in rat striatum: localization and interaction with NMDA glutamate receptor subunits. Brain Res Mol Brain Res (2000) 0.94
Autologous human dendriphages pulsed with synthetic or natural tumor peptides elicit tumor-specific CTLs in vitro. J Immunother (1998) 0.94
Value of serum immunoglobulins in the diagnosis of liver disease. Liver (1984) 0.91
Predictability of radiographic diagnosis of variations in root canal anatomy in mandibular incisor and premolar teeth. Int Endod J (1991) 0.91
Avoiding skin burns with transcranial direct current stimulation: preliminary considerations. Int J Neuropsychopharmacol (2010) 0.89
Beta-endorphin decline in late luteal phase dysphoric disorder. Int J Psychiatry Med (1990) 0.87
Evidence for oxidative stress in the subthalamic nucleus in progressive supranuclear palsy. J Neurochem (1999) 0.87
Nuclear magnetic resonance studies of the snake toxin echistatin. 1H resonance assignments and secondary structure. Eur J Biochem (1991) 0.85
GABAergic and glutamatergic identities of developing midbrain Pitx2 neurons. Dev Dyn (2011) 0.85
An in vitro investigation into the wear effects of glazed, unglazed and refinished dental porcelain on an opposing material. J Oral Rehabil (1999) 0.81
Effects of serum and insulin-like growth factors on human neuroblastoma cell growth. Regul Pept (1993) 0.80
The effects of breast cancer chemotherapy on wound healing in the rat. J Surg Res (1987) 0.80
Differentiating mania from schizophrenia by the TRH test. Am J Psychiatry (1980) 0.78
Comparative effects of Criticare HN and Vivonex HN in the treatment of malnutrition due to pancreatic insufficiency. Am J Clin Nutr (1984) 0.78
TCR usage in CTLs recognizing melanoma/melanocyte antigens. Immunol Today (1995) 0.78
Symptoms of premenstrual syndrome as a function of beta-endorphin: two subtypes. Prog Neuropsychopharmacol Biol Psychiatry (1994) 0.78
Assessment of a contrast medium as an adjunct to endodontic radiography. Int Endod J (2004) 0.77
An in vitro assessment of tooth preparation for porcelain veneer restorations. J Dent (1995) 0.77
DNA vaccines targeting dendritic cells for the immunotherapy of cancer. Adv Exp Med Biol (1998) 0.77
Carboxyhemoglobin concentration as an index of bilirubin production in neonates with birth weights less than 1,500 grams: a randomized double-blind comparison of supplemental oral vitamin E and placebo. J Pediatr Gastroenterol Nutr (1988) 0.76
The TRH test in the diagnosis of major and minor depression. Psychoneuroendocrinology (1981) 0.76
Factor VIIa and the extracellular domains of human tissue factor form a compact complex: a study by X-ray and neutron solution scattering. FEBS Lett (1995) 0.76
Cytolytic T-cell clones define HLA-A2-restricted human cutaneous melanoma peptide epitopes: correlation with T-cell receptor usage. Cancer J Sci Am (2006) 0.76
Crystallization and preliminary X-ray analysis of human tissue factor extracellular domain. J Mol Biol (1993) 0.76
Interpretation of drug abuse testing: strengths and limitations of current methodology. Psychiatr Med (1985) 0.76
The thyroid-stimulating hormone response to thyrotropin-releasing hormone in mania and bipolar depression. Psychiatry Res (1980) 0.76
Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: metabolic stroke involving the caudate and putamen without metabolic decompensation. Eur J Pediatr (2003) 0.75
Deafness: lack of regulation encourages hair cell growth. Gene Ther (2005) 0.75
Activation of factor X by factor VIIa on monocyte cell surfaces. Blood (1994) 0.75
Structural requirements for the interaction between tissue factor and factor VII: characterization of chymotrypsin-derived tissue factor polypeptides. Biochem J (1993) 0.75
Distinguishing unipolar and bipolar depression by thyrotropin release test. Lancet (1979) 0.75
Changes in patient age and tooth distribution for root canal treatment in a teaching hospital over a 15-year period. Int Endod J (1994) 0.75
The restoration of vital anterior teeth. Edinb Dent Hosp Gaz (1969) 0.75
Comparison of the quality of obturation following endosonic versus hand instrumentation. Int Endod J (1994) 0.75
Forest Service Observes Its Golden Anniversary. Science (1955) 0.75
Calcium hydroxide in root canal therapy. A review. Br Dent J (1977) 0.75
Influence of age on the extent of voids in root canals sealed using a cold lateral condensation technique. Int Endod J (1994) 0.75
A direct method for determining dopamine synthesis and output of dopamine metabolites from brain in awake animals. J Neurochem (1979) 0.75
Impaired reception of nonverbal cues in women with premenstrual tension syndrome. J Psychol (1988) 0.75
Deficient prolactin response to morphine in depressed patients. Am J Psychiatry (1980) 0.75
Critique of "Effect on postoperative recovery rate and comfort of four approaches to nursing care of dogs: a pilot study". Commun Nurs Res (1970) 0.75
Restoration of brain growth in fetal sheep after iodized oil administration to pregnant iodine-deficient ewes. J Neurol Sci (1984) 0.75
Bone properties surrounding hydroxyapatite-coated custom osseous integrated dental implants. J Biomed Mater Res B Appl Biomater (2010) 0.75
Newborn methemoglobinemia following propitocaine intrapartum epidural block. First case report. Obstet Gynecol (1970) 0.75
Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII. Hum Mol Genet (1993) 0.75
The use of endodontically treated teeth in restorative dentistry. Restorative Dent (1984) 0.75
The effect of prostaglandin E2 on ethionine-induced pancreatitis in the rat. Gastroenterology (1981) 0.75
Personality disorders in people with learning disabilities: follow-up of a community survey. J Intellect Disabil Res (2005) 0.75
Further evidence of hypothalamic-pituitary dysfunction in anorexia nervosa. Am J Psychiatry (1980) 0.75
Hyperkinetic behavior disorders in children: clinical results with methylphenidate hydrochloride (Ritalin). West Med Med J West (1967) 0.75
The effect of thyroxine, 3, 5-dimethyl-3'isopropyl-L-thyronine and iodized oil on fetal brain development in the iodine-deficient sheep. Acta Endocrinol (Copenh) (1989) 0.75
Heavy cocaine use by adolescents. Pediatrics (1989) 0.75
The management of root resorption in replanted and transplanted teeth. Int Endod J (1983) 0.75
The relationship of endodontic procedures to the coronal restoration. Restorative Dent (1984) 0.75
Ocular malformations, postaxial polydactyly, and delayed intramembranous ossification: a new autosomal dominant condition. J Med Genet (2001) 0.75
Some digenetic trematodes from synaphobranchid eels. J Parasitol (1974) 0.75
Immunologic monitoring with Orthoclone OKT3 therapy. J Heart Transplant (1989) 0.75
Irrigation and medication of the root canal. J Br Endod Soc (1979) 0.75
Thyroid stimulating hormone and growth hormone responses to thyrotropin releasing hormone in anorexia nervosa. Int J Psychiatry Med (1980) 0.75
Vanadium. Methods Enzymol (1988) 0.75
Nortriptyline plasma levels and clinical response in patients with familial pure unipolar depression and blunted TRH tests. Int J Psychiatry Med (1984) 0.75
PKC activity and PKC-alpha mRNA content are reduced in serum-derived human neuroblastoma cells without concomitant induction of differentiation. Exp Cell Res (1993) 0.75
Small intestinal capsule biopsy under endoscopic guidance. Gastrointest Endosc (1983) 0.75
Critique of "Rhythmic correlates of shift work". Commun Nurs Res (1973) 0.75
In vitro marginal microleakage associated with five dentine bonding systems and associated composite restorations. J Dent (1990) 0.75