His primary areas of investigation include Genetics, Joubert syndrome, TMEM67, Hypotonia and Gene. His Genetics and Chromosome, Amyotrophy, Mutation, Carcinogenesis and Juvenile amyotrophic lateral sclerosis investigations all form part of his Genetics research activities. Anatomy is closely connected to Ataxia in his research, which is encompassed under the umbrella topic of Joubert syndrome.
His research integrates issues of Coloboma and RPGRIP1L in his study of TMEM67. His Hypotonia research is multidisciplinary, incorporating perspectives in Polydactyly and Nephronophthisis. His research in the fields of X chromosome overlaps with other disciplines such as IPEX syndrome, Hereditary neuralgic amyotrophy and Septin.
Genetics, Hereditary neuralgic amyotrophy, Gene, Gene duplication and Pathology are his primary areas of study. All of his Genetics and Locus, Gene mapping, Haplotype, Genetic linkage and Mutation investigations are sub-components of the entire Genetics study. Many of his studies on Gene apply to Molecular biology as well.
His Gene duplication research is multidisciplinary, incorporating elements of Chromosome, Breakpoint, Point mutation and Hereditary motor and sensory neuropathy. His study in Atrophy is interdisciplinary in nature, drawing from both Juvenile amyotrophic lateral sclerosis and Muscle weakness, Anatomy, Motor nerve. He conducts interdisciplinary study in the fields of X chromosome and IPEX syndrome through his research.
The scientist’s investigation covers issues in Genetics, Hereditary neuralgic amyotrophy, Haplotype, Gene and Gene duplication. His Genetics study frequently draws connections between related disciplines such as Bioinformatics. In his study, Founder effect, Pedigree chart, Microsatellite and Genotyping is strongly linked to Mutation, which falls under the umbrella field of Haplotype.
Phillip F. Chance incorporates Gene and Lysosome in his research. Phillip F. Chance has included themes like Breakpoint and Exon in his Gene duplication study. His research on Ciliopathy also deals with topics like
His scientific interests lie mostly in Genetics, TMEM67, Joubert syndrome, Hereditary neuralgic amyotrophy and Ciliopathy. His work on Genetics deals in particular with Missense mutation, Mutation, Pedigree chart, Microsatellite and Genotyping. His biological study spans a wide range of topics, including Coloboma, Polydactyly, RPGRIP1L, Hypotonia and Genetic heterogeneity.
His work carried out in the field of RPGRIP1L brings together such families of science as Meckel-Gruber Syndrome, Ataxia, Internal medicine and Pediatrics. His research in Joubert syndrome intersects with topics in Endocrinology, CC2D2A and Bioinformatics. His Ciliopathy study combines topics from a wide range of disciplines, such as Carrier testing, Cilium, Ciliopathies and Cystic kidney disease.
This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.
Craig L. Bennett;Jacinda Christie;Fred Ramsdell;Mary E. Brunkow.
Nature Genetics (2001)
Connexin mutations in X-linked Charcot-Marie-Tooth disease.
J Bergoffen;SS Scherer;S Wang;MO Scott.
DNA deletion associated with hereditary neuropathy with liability to pressure palsies
Phillip F. Chance;Phillip F. Chance;Mary Kathryn Alderson;Mary Kathryn Alderson;Mary Kathryn Alderson;Kathleen A. Leppig;M.William Lensch.
DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)
Ying Zhang Chen;Craig L. Bennett;Huy M. Huynh;Ian P. Blair.
American Journal of Human Genetics (2004)
Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A
Norisada Matsunami;Norisada Matsunami;Brooke Smith;Linda Ballard;M. William Lensch.
Nature Genetics (1992)
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
Phillip F. Chance;Nacer Abbas;M.William Lensch;Liu Pentao.
Human Molecular Genetics (1994)
Dejerine−Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene
Benjamin B. Roa;Peter J. Dyck;Harold G. Marks;Phillip F. Chance;Phillip F. Chance.
Nature Genetics (1993)
Molar Tooth Sign of the Midbrain-Hindbrain Junction: Occurrence in Multiple Distinct Syndromes
Joseph G. Gleeson;Lesley C. Keeler;Melissa A. Parisi;Sarah E. Marsh.
American Journal of Medical Genetics Part A (2004)
A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome.
Craig L. Bennett;Mary E. Brunkow;Fred Ramsdell;Kathy C. O'Briant.
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
Melissa A. Parisi;Craig L. Bennett;Melissa L. Eckert;William B. Dobyns.
American Journal of Human Genetics (2004)
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