Published in Am J Med Genet A on July 15, 2008
Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte stem cell maintenance, and disease. Pigment Cell Melanoma Res (2008) 1.35
A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1. Mol Vis (2013) 0.89
Heritabilities of facial measurements and their latent factors in korean families. Genomics Inform (2013) 0.83
PAX3 gene deletion detected by microarray analysis in a girl with hearing loss. Mol Cytogenet (2014) 0.79
Anterior ethmoidal artery emerging anterior to bulla ethmoidalis: An abnormal anatomical variation in Waardenburg's syndrome. Allergy Rhinol (Providence) (2014) 0.78
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A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet (1951) 12.38
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The genetics of deafness. Ment Retard Dev Disabil Res Rev (2003) 1.61
The mutational spectrum in Waardenburg syndrome. Hum Mol Genet (1995) 1.55
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet (2007) 1.54
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Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet (2003) 1.36
Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome. Hum Mutat (1996) 1.12
Combined sphenoid and frontal sinus aplasia accompanied by bilateral maxillary and ethmoid sinus hypoplasia. Br J Radiol (2005) 1.09
Waardenburg syndrome type II: phenotypic findings and diagnostic criteria. Am J Med Genet (1995) 1.09
Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes. Am J Hum Genet (1994) 1.06
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. Hum Genet (1998) 1.02
Co-expression of SOX9 and SOX10 during melanocytic differentiation in vitro. Exp Cell Res (2005) 1.02
Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III). Am J Med Genet (1983) 0.92
The value of MLPA in Waardenburg syndrome. Genet Test (2007) 0.91
Craniofacial-deafness-hand syndrome revisited. Am J Med Genet A (2003) 0.89
Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease. Am J Med Genet (1999) 0.88
Homozygosity for Waardenburg syndrome. Am J Hum Genet (1995) 0.87
Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. Am J Med Genet A (2003) 0.87
Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness. Clin Genet (2004) 0.86
Etiology of syndromic and nonsyndromic sensorineural hearing loss. Otolaryngol Clin North Am (2002) 0.84
Temporal bone imaging findings in Waardenburg's syndrome. Int J Pediatr Otorhinolaryngol (2001) 0.81
Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome? Clin Genet (2001) 0.79
Waardenburg syndrome associated with bilateral renal anomaly. J Pediatr Surg (2005) 0.78
Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness. Am J Med Genet (1983) 0.77
Sensorineural hearing loss, early greying, and essential tremor: a new hereditary syndrome? Otolaryngol Head Neck Surg (2005) 0.77
Congenital clasped thumb combined with Waardenburg syndrome in three generations of one family: an undescribed congenital anomalies complex. J Pediatr Orthop (1984) 0.76
Conductive deafness with ptosis and skeletal malformations in sibs: a probably autosomal recessive disorder. Birth Defects Orig Artic Ser (1978) 0.76
Association between carotid plaque characteristics and subsequent ischemic cerebrovascular events: a prospective assessment with MRI--initial results. Stroke (2006) 4.85
Obesity is associated with hypothalamic injury in rodents and humans. J Clin Invest (2011) 4.17
Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet (2013) 4.06
Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet (2011) 2.46
Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins. Genomics (2002) 2.16
Integrative analysis of RUNX1 downstream pathways and target genes. BMC Genomics (2008) 2.14
Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. Arch Neurol (2005) 1.78
MR neurography and muscle MR imaging for image diagnosis of disorders affecting the peripheral nerves and musculature. Neurol Clin (2004) 1.61
Sexually responsive vascular tissue of the vulva. BJU Int (2006) 1.51
Systemic theophylline augments the blood oxygen level-dependent response to forepaw stimulation in rats. AJNR Am J Neuroradiol (2002) 1.50
Predictors of carotid atherosclerotic plaque progression as measured by noninvasive magnetic resonance imaging. Atherosclerosis (2006) 1.48
Presence of large deletions in kindreds with autism. Am J Hum Genet (2002) 1.47
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Ann Neurol (2014) 1.47
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Arch Neurol (2012) 1.46
Evaluation of neck and body metastases to nodes with ferumoxtran 10-enhanced MR imaging: phase III safety and efficacy study. Radiology (2003) 1.42
Is Chiari I malformation associated with fibromyalgia? Neurosurgery (2011) 1.41
X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. Blood (2002) 1.41
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet (2003) 1.36
High-dose immunosuppressive therapy and autologous peripheral blood stem cell transplantation for severe multiple sclerosis. Blood (2003) 1.25
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat (2012) 1.25
Human phenotypes associated with GATA-1 mutations. Gene (2008) 1.24
The effect of algorithms on copy number variant detection. PLoS One (2010) 1.23
Evaluation of candidate genes for DYX1 and DYX2 in families with dyslexia. Am J Med Genet B Neuropsychiatr Genet (2007) 1.21
IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. Am J Hum Genet (2009) 1.21
Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample. J Neurodev Disord (2010) 1.13
Statistical mapping of functional olfactory connections of the rat brain in vivo. Neuroimage (2004) 1.12
Linkage analyses of four regions previously implicated in dyslexia: confirmation of a locus on chromosome 15q. Am J Med Genet B Neuropsychiatr Genet (2004) 1.12
Comparison of 3 Tesla proton MR spectroscopy, MR perfusion and MR diffusion for distinguishing glioma recurrence from posttreatment effects. J Magn Reson Imaging (2011) 1.12
Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. Arch Neurol (2003) 1.08
Macrocyclic and Other Non-Group 1 Gadolinium Contrast Agents Deposit Low Levels of Gadolinium in Brain and Bone Tissue: Preliminary Results From 9 Patients With Normal Renal Function. Invest Radiol (2016) 1.07
Dynamic contrast-enhanced magnetic resonance imaging of tumor-induced lymph flow. Neoplasia (2008) 1.06
Magnetic resonance imaging anatomy of the female genitalia in premenopausal and postmenopausal women. J Urol (2003) 1.03
Low-frequency signal changes reflect differences in functional connectivity between good readers and dyslexics during continuous phoneme mapping. Magn Reson Imaging (2006) 1.02
FMRI investigation of cross-cultural music comprehension. Neuroimage (2003) 1.00
Distinction between glioma progression and post-radiation change by combined physiologic MR imaging. Neuroradiology (2009) 0.99
Age-related decrease in axonal transport measured by MR imaging in vivo. Neuroimage (2007) 0.99
Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21. Am J Med Genet B Neuropsychiatr Genet (2009) 0.97
Genomewide scan for real-word reading subphenotypes of dyslexia: novel chromosome 13 locus and genetic complexity. Am J Med Genet B Neuropsychiatr Genet (2006) 0.96
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). Hum Mol Genet (2013) 0.95
Transfection of neuroprogenitor cells with iron nanoparticles for magnetic resonance imaging tracking: cell viability, differentiation, and intracellular localization. Mol Imaging Biol (2006) 0.95
A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations. J Neurol Sci (2010) 0.94
Fast whole-brain three-dimensional macromolecular proton fraction mapping in multiple sclerosis. Radiology (2014) 0.93
Female genitalia: dynamic MR imaging with use of MS-325 initial experiences evaluating female sexual response. Radiology (2002) 0.92
De novo microdeletion of BCL11A is associated with severe speech sound disorder. Am J Med Genet A (2014) 0.92
Blood-brain barrier imaging and therapeutic potentials. Top Magn Reson Imaging (2006) 0.92
Motor cortex activation is preserved in patients with chronic hemiplegic stroke. Ann Neurol (2002) 0.92
Physiology of women's sexual function: basic knowledge and new findings. J Sex Med (2010) 0.91
Genome scan of a nonword repetition phenotype in families with dyslexia: evidence for multiple loci. Behav Genet (2008) 0.90
How do researchers manage genetic results in practice? The experience of the multinational Colon Cancer Family Registry. J Community Genet (2013) 0.89
Motor sequencing deficit as an endophenotype of speech sound disorder: a genome-wide linkage analysis in a multigenerational family. Psychiatr Genet (2012) 0.88
Deficits in sequential processing manifest in motor and linguistic tasks in a multigenerational family with childhood apraxia of speech. Clin Linguist Phon (2013) 0.88
Genome scan for spelling deficits: effects of verbal IQ on models of transmission and trait gene localization. Behav Genet (2010) 0.88
Paramagnetic effect of supplemental oxygen on CSF hyperintensity on fluid-attenuated inversion recovery MR images. AJNR Am J Neuroradiol (2004) 0.87
Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects. Hum Mutat (2013) 0.86
The brachial plexus: normal anatomy, pathology, and MR imaging. Neuroimaging Clin N Am (2004) 0.86
Inherited thrombocytopenia due to GATA-1 mutations. Semin Thromb Hemost (2011) 0.85
A multigenerational family study of oral and hand motor sequencing ability provides evidence for a familial speech sound disorder subtype. Top Lang Disord (2011) 0.85
Familial aggregation of dyslexia phenotypes. II: paired correlated measures. Am J Med Genet (2002) 0.85
Contrast-enhanced MRI of carotid atherosclerosis: dependence on contrast agent. J Magn Reson Imaging (2009) 0.84
MR neurography: diagnostic utility in the surgical treatment of peripheral nerve disorders. Neuroimaging Clin N Am (2004) 0.84
Genome scan for cognitive trait loci of dyslexia: Rapid naming and rapid switching of letters, numbers, and colors. Am J Med Genet B Neuropsychiatr Genet (2014) 0.83
Familial aggregation patterns in mathematical ability. Behav Genet (2004) 0.83
Genetic evaluation and counseling of couples with recurrent miscarriage: recommendations of the National Society of Genetic Counselors. J Genet Couns (2005) 0.83
Segregation analysis of phenotypic components of learning disabilities. II. Phonological decoding. Am J Med Genet B Neuropsychiatr Genet (2003) 0.83
Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32. Am J Med Genet (2002) 0.82
Global processing speed in children with low reading ability and in children and adults with typical reading ability: exploratory factor analytic models. J Speech Lang Hear Res (2010) 0.82
Disk position and the bilaminar zone of the temporomandibular joint in asymptomatic young individuals by magnetic resonance imaging. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (2002) 0.82
A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. Arch Neurol (2002) 0.82
High Levels of Gadolinium Deposition in the Skin of a Patient With Normal Renal Function. Invest Radiol (2016) 0.81
Acquired differences in brain responses among monozygotic twins discordant for restrained eating. Physiol Behav (2011) 0.81
Associations among measures of sequential processing in motor and linguistics tasks in adults with and without a family history of childhood apraxia of speech: a replication study. Clin Linguist Phon (2013) 0.81
Evidence for involvement of GNB1L in autism. Am J Med Genet B Neuropsychiatr Genet (2011) 0.80
Phenotype and X inactivation in 45,X/46,X,r(X) cases. Am J Med Genet A (2004) 0.80
Loss of olfactory tract integrity affects cortical metabolism in the brain and olfactory regions in aging and mild cognitive impairment. J Nucl Med (2013) 0.80
A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity. Mov Disord (2010) 0.79
Spinocerebellar ataxia type 14. Handb Clin Neurol (2012) 0.79
Gadolinium tissue deposition in brain and bone. Magn Reson Imaging (2016) 0.78
Influence of sildenafil on genital engorgement in women with female sexual arousal disorder. J Sex Med (2012) 0.77
Magnetic resonance imaging of SILCS diaphragm: anatomical considerations and corroboration with clinical fit. Contraception (2007) 0.77
Wenckebach periodicity at rest that normalizes with tachycardia in a family with a NKX2.5 mutation. Am J Cardiol (2012) 0.77
In vivo imaging of functional disruption, recovery and alteration in rat olfactory circuitry after lesion. Neuroimage (2006) 0.76
Pharmacology and genetics of autism: implications for diagnosis and treatment. Per Med (2008) 0.75