Physician

Medical Genetics

Phillip F. Chance works in the field of Medical Genetics. He studied medicine at University of Tennessee College of Medicine. He received 1 awards: "Elected Member". Phillip F. Chance, MD is a published doctor and has 99 publications published. The lastest was: 'Molecular basis of neuromuscular diseases.'

Publications

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• The Central Nervous System Phenotype of X-Linked Charcot-Marie-Tooth Disease: A Transient Disorder of Children and Young Adults.
• Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy.
• Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
• SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.
• Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.
• CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
• Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family study.
• Late-onset hereditary axonal neuropathies.
• Charcot-Marie-Tooth disease.
• Joubert syndrome (and related disorders) (OMIM 213300).
• In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome.
• Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.
• Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.
• AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
• SIMPLE interacts with NEDD4 and TSG101: evidence for a role in lysosomal sorting and implications for Charcot-Marie-Tooth disease.
• Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
• Neurotrophin-3 therapy for Charcot-Marie-Tooth disease type 1A.
• Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures.
• Genetic evaluation of inherited motor/sensory neuropathy.
• Lorenzo''s oil: advances in the treatment of neurometabolic disorders.
• Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
• The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
• DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
• SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.
• Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy.
• Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study.
• Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
• Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene.
• Charcot-Marie-Tooth disease: electrophysiology, molecular genetics and clinical management.
• New gene for CMT.
• Electrodiagnostic evaluation of hereditary motor and sensory neuropathies.
• Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.
• Molecular basis of hereditary neuropathies.
• Evidence of a founder effect and refinement of the hereditary neuralgic amyotrophy (HNA) locus on 17q25 in American families.
• Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1.
• Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies.
• Craniofacial and cutaneous findings expand the phenotype of hereditary neuralgic amyotrophy.
• Molecular pathogenesis of hereditary motor, sensory and autonomic neuropathies.
• A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome.
• Evidence for genetic heterogeneity in hereditary neuralgic amyotrophy.
• The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.
• A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4) localizes to a 500-kb interval on chromosome 9q34.
• Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate.
• Inherited peripheral neuropathy.
• Survey of inherited peripheral nerve diseases.
• X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3.
• Clinical nosologic and genetic aspects of Joubert and related syndromes.
• Overview of hereditary neuropathy with liability to pressure palsies.
• Molecular evolution of the CMT1A-REP region: a human- and chimpanzee-specific repeat.
• Autosomal dominant juvenile amyotrophic lateral sclerosis.
• An integrated physical and gene map of human distal chromosome 17q24-proximal 17q25 encompassing multiple disease loci.
• Inherited neuropathies: from gene to disease.
• Mapping of the kinesin-related gene ATSV to chromosome 2q37.
• Molecular genetics of hereditary neuropathies.
• Is there a familial carpal tunnel syndrome? An evaluation and literature review.
• Hereditary neuropathy with liability to pressure palsies: a patient's point mutation in a mouse model.
• Clustering of CMT1A duplication breakpoints in a 700 bp interval of the CMT1A-REP repeat.
• Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.
• Molecular basis of neuromuscular diseases.
• Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25.
• Clinical and molecular analysis in Joubert syndrome.
• Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing.
• Autosomal dominant transmission of Dejerine-Sottas disease (HMSN III).
• Familial autosomal-dominant carpal tunnel syndrome presenting in a 5-year-old-case report and review of the literature.
• Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP.
• Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2-12: analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging.
• Hereditary neuralgic amyotrophy.
• Infantile spasms associated with proximal duplication of chromosome 15q.
• Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot.
• Cytogenetic and molecular analysis in trisomy 12p.
• Severe vincristine neuropathy in Charcot-Marie-Tooth disease type 1A.
• Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q.
• Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy.
• Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2.
• Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.
• Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral...
• Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP.
• Myelin genes: getting the dosage right.
• New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.
• Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1.
• A 2D crossover-based map of the human X chromosome as a model for map integration.
• Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders.
• Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders.
• Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis.
• Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.
• Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy.
• Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies.
• Connexin mutations in X-linked Charcot-Marie-Tooth disease.
• Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP.
• Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
• Charcot-Marie-Tooth syndrome.
• Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.
• Linkage localization of X-linked Charcot-Marie-Tooth disease.
• DNA deletion associated with hereditary neuropathy with liability to pressure palsies.
• An extended genetic linkage map and an "index" map for human chromosome 17.
• Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A.
• Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus.
• Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers.

Schools

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• University of Tennessee Memphis College of Medicine amp Surgery

• University Ut Med Center

• University Wa

Doctors Specialties

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• Clinical Genetics
• Clinical Molecular Genetics
• Medical Genetics

Accepted Insurances

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• Cigna HMO
• Cigna PPO
• Great West Healthcare-Cigna PPO
• Open Access Plus
• First Choice Health PPO
• Coop Core
• ODS Health Plan
• Personal Option EPO
• Preferred Provider Network PPN

Awards

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• Elected Member

Education

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• University of Tennessee College of Medicine

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