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Phillip Chance
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17
Bird, Thomas
16
Bennett, Craig
9
Glass, Ian
7
Keller, MP
7
Parisi, Melissa
7
Fischbeck, Kenneth
6
Watts, Giles
5
Pellegrino, JE
5
Lupski, James
4
Matsunami, Nori
4
Nelis, Eva
4
Huynh, Huy
4
Griffin, John
4
Dobyns, William
4
Carter, Gregory
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All Publications
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2009: Hannibal M C; Ruzzo E K; Miller L R; Betz B; Buchan J G; Knutzen D M; Barnett K; Landsverk M L; Brice A; LeGuern E; Bedford H M; Worrall B B; Lovitt S; Appel S H; Andermann E; Bird T D; Chance P F
SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.
Neurology 2009;72(20):1755-9.
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2009: Landsverk Megan L; Ruzzo Elizabeth K; Mefford Heather C; Buysse Karen; Buchan Jillian G; Eichler Evan E; Petty Elizabeth M; Peterson Esther A; Knutzen Dana M; Barnett Karen; Farlow Martin R; Caress Judy; Parry Gareth J; Quan Dianna; Gardner Kathy L; Hong Ming; Simmons Zachary; Bird Thomas D; Chance Phillip F; Hannibal Mark C
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.
Human molecular genetics 2009;18(7):1200-8.
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2008: Bennett C L; Lawson V H; Brickell K L; Isaacs K; Seltzer W; Lipe H P; Weiss M D; Carter G T; Flanigan K M; Chance P F; Bird T D
Late-onset hereditary axonal neuropathies.
Neurology 2008;71(1):14-20.
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2008: Carter Gregory T; Weiss Michael D; Han Jay J; Chance Phillip F; England John D
Charcot-marie-tooth disease.
Current treatment options in neurology 2008;10(2):94-102.
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2007: Parisi Melissa A; Doherty Dan; Chance Phillip F; Glass Ian A
Joubert syndrome (and related disorders) (OMIM 213300).
European journal of human genetics : EJHG 2007;15(5):511-21.
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2006: Chen Ying-Zhang; Hashemi Sayed H; Anderson Susan K; Huang Yongzhao; Moreira Maria-Ceu; Lynch David R; Glass Ian A; Chance Phillip F; Bennett Craig L
Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.
Neurobiology of disease 2006;23(1):97-108.
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2006: Parisi M A; Doherty D; Eckert M L; Shaw D W W; Ozyurek H; Aysun S; Giray O; Al Swaid A; Al Shahwan S; Dohayan N; Bakhsh E; Indridason O S; Dobyns W B; Bennett C L; Chance P F; Glass I A
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Journal of medical genetics 2006;43(4):334-9.
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2006: Chance Phillip F
Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.
Neuromolecular medicine 2006;8(1-2):159-74.
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2005: Kuhlenbäumer Gregor; Hannibal Mark C; Nelis Eva; Schirmacher Anja; Verpoorten Nathalie; Meuleman Jan; Watts Giles D J; De Vriendt Els; Young Peter; Stögbauer Florian; Halfter Hartmut; Irobi Joy; Goossens Dirk; Del-Favero Jurgen; Betz Benjamin G; Hor Hyun; Kurlemann Gert; Bird Thomas D; Airaksinen Eila; Mononen Tarja; Serradell Adolfo Pou; Prats José M; Van Broeckhoven Christine; De Jonghe Peter; Timmerman Vincent; Ringelstein E Bernd; Chance Phillip F
Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
Nature genetics 2005;37(10):1044-6.
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2005: Shirk Andrew J; Anderson Susan K; Hashemi Sayed H; Chance Phillip F; Bennett Craig L
SIMPLE interacts with NEDD4 and TSG101: evidence for a role in lysosomal sorting and implications for Charcot-Marie-Tooth disease.
Journal of neuroscience research 2005;82(1):43-50.
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2005: Bennett C L; Huynh H M; Chance P F; Glass I A; Gospe S M
Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures.
Neurogenetics 2005;6(3):143-9.
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2005: Doherty Dan; Glass Ian A; Siebert Joseph R; Strouse Peter J; Parisi Melissa A; Shaw Dennis W W; Chance Phillip F; Barr Mason; Nyberg David
Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
Prenatal diagnosis 2005;25(6):442-7.
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2004: Parisi Melissa A; Bennett Craig L; Eckert Melissa L; Dobyns William B; Gleeson Joseph G; Shaw Dennis W W; McDonald Ruth; Eddy Allison; Chance Phillip F; Glass Ian A
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
American journal of human genetics 2004;75(1):82-91.
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2004: Chen Ying-Zhang; Bennett Craig L; Huynh Huy M; Blair Ian P; Puls Imke; Irobi Joy; Dierick Ines; Abel Annette; Kennerson Marina L; Rabin Bruce A; Nicholson Garth A; Auer-Grumbach Michaela; Wagner Klaus; De Jonghe Peter; Griffin John W; Fischbeck Kenneth H; Timmerman Vincent; Cornblath David R; Chance Phillip F
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
American journal of human genetics 2004;74(6):1128-35.
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2004: Bennett Craig L; Shirk Andrew J; Huynh Huy M; Street Valerie A; Nelis Eva; Van Maldergem Lionel; De Jonghe Peter; Jordanova Albena; Guergueltcheva Velina; Tournev Ivailo; Van Den Bergh Peter; Seeman Pavel; Mazanec Radim; Prochazka Tomas; Kremensky Ivo; Haberlova Jana; Weiss Michael D; Timmerman Vincent; Bird Thomas D; Chance Phillip F
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.
Annals of neurology 2004;55(5):713-20.
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2004: Hünermund Gert; Schirmacher Anja; Ringelstein Bernd; Young Peter; Watts Giles D; Meuleman Jan; Nelis Eva; Chance Phillip F; Timmerman Vincent; Stögbauer Florian; Kuhlenbäumer Gregor
Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy.
Muscle & nerve 2004;29(4):601-4.
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2004: Parisi Melissa A; Pinter Joseph D; Glass Ian A; Field Katherine; Maria Bernard L; Chance Phillip F; Mahurin Roderick K; Cramer Steven C
Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study.
Journal of child neurology 2004;19(3):214-8.
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2004: Gleeson Joseph G; Keeler Lesley C; Parisi Melissa A; Marsh Sarah E; Chance Phillip F; Glass Ian A; Graham Jr John M; Maria Bernard L; Barkovich A James; Dobyns William B
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
American journal of medical genetics. Part A 2004;125A(2):125-34; discussion 117.
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2004: Bennett Craig L; Parisi Melissa A; Eckert Melissa L; Huynh Huy M; Chance Phillip F; Glass Ian A
Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene.
American journal of medical genetics. Part A 2004;125A(2):117-24; discussion 117.
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2004: Carter Greg T; England John D; Chance Phillip F
Charcot-Marie-Tooth disease: electrophysiology, molecular genetics and clinical management.
IDrugs : the investigational drugs journal 2004;7(2):151-9.
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2004: Chance Phillip F
Genetic evaluation of inherited motor/sensory neuropathy.
Supplements to Clinical neurophysiology 2004;57():228-42.
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2003: Street Valerie A; Bennett Craig L; Bird Thomas D; Chance Phillip F
New gene for CMT.
Journal of the peripheral nervous system : JPNS 2003;8(4):206.
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2003: Carter Gregory T; England John D; Hecht Thomas W; Han Jay J; Weydt Patrick; Chance Phillip F
Electrodiagnostic evaluation of hereditary motor and sensory neuropathies.
Physical medicine and rehabilitation clinics of North America 2003;14(2):347-63, ix-x.
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2003: Street V A; Bennett C L; Goldy J D; Shirk A J; Kleopa K A; Tempel B L; Lipe H P; Scherer S S; Bird T D; Chance P F
Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.
Neurology 2003;60(1):22-6.
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2002: Watts Giles D J; O'Briant Kathy C; Chance Phillip F
Evidence of a founder effect and refinement of the hereditary neuralgic amyotrophy (HNA) locus on 17q25 in American families.
Human genetics 2002;110(2):166-72.
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2002: Blair Ian P; Gibson Roxanne R; Bennett Craig L; Chance Phillip F
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.
American journal of medical genetics 2002;107(3):190-6.
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2002: Street Valerie A; Goldy Jeff D; Golden Alana S; Tempel Bruce L; Bird Thomas D; Chance Phillip F
Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies.
American journal of human genetics 2002;70(1):244-50.
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2002: Watts Giles D J; Chance Phillip F
Molecular basis of hereditary neuropathies.
Advances in neurology 2002;88():133-46.
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2001: Jeannet P Y; Watts G D; Bird T D; Chance P F
Craniofacial and cutaneous findings expand the phenotype of hereditary neuralgic amyotrophy.
Neurology 2001;57(11):1963-8.
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2001: Bennett C L; Brunkow M E; Ramsdell F; O'Briant K C; Zhu Q; Fuleihan R L; Shigeoka A O; Ochs H D; Chance P F
A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome.
Immunogenetics 2001;53(6):435-9.
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2001: Chance P F
Molecular basis of hereditary neuropathies.
Physical medicine and rehabilitation clinics of North America 2001;12(2):277-91.
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2001: Watts G D; O'Briant K C; Borreson T E; Windebank A J; Chance P F
Evidence for genetic heterogeneity in hereditary neuralgic amyotrophy.
Neurology 2001;56(5):675-8.
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2001: Bennett C L; Christie J; Ramsdell F; Brunkow M E; Ferguson P J; Whitesell L; Kelly T E; Saulsbury F T; Chance P F; Ochs H D
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.
Nature genetics 2001;27(1):20-1.
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2000: Blair I P; Bennett C L; Abel A; Rabin B A; Griffin J W; Fischbeck K H; Cornblath D R; Chance P F
A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4) localizes to a 500-kb interval on chromosome 9q34.
Neurogenetics 2000;3(1):1-6.
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2000: Han L L; Keller M P; Navidi W; Chance P F; Arnheim N
Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate.
Human molecular genetics 2000;9(12):1881-9.
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2000: Bennett C L; Yoshioka R; Kiyosawa H; Barker D F; Fain P R; Shigeoka A O; Chance P F
X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3.
American journal of human genetics 2000;66(2):461-8.
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1999: Chance P F; Cavalier L; Satran D; Pellegrino J E; Koenig M; Dobyns W B
Clinical nosologic and genetic aspects of Joubert and related syndromes.
Journal of child neurology 1999;14(10):660-6; discussion 669-72.
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1999: Chance P F
Overview of hereditary neuropathy with liability to pressure palsies.
Annals of the New York Academy of Sciences 1999;883():14-21.
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1999: Keller M P; Seifried B A; Chance P F
Molecular evolution of the CMT1A-REP region: a human- and chimpanzee-specific repeat.
Molecular biology and evolution 1999;16(8):1019-26.
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1999: Rabin B A; Griffin J W; Crain B J; Scavina M; Chance P F; Cornblath D R
Autosomal dominant juvenile amyotrophic lateral sclerosis.
Brain : a journal of neurology 1999;122 ( Pt 8)():1539-50.
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1999: Keller M P; Chance P F
Inherited neuropathies: from gene to disease.
Brain pathology (Zurich, Switzerland) 1999;9(2):327-41.
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1999: Kalikin L M; George R A; Keller M P; Bort S; Bowler N S; Law D J; Chance P F; Petty E M
An integrated physical and gene map of human distal chromosome 17q24-proximal 17q25 encompassing multiple disease loci.
Genomics 1999;57(1):36-42.
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1999: Keller M P; Seifried B A; Rabin B A; Chance P F
Mapping of the kinesin-related gene ATSV to chromosome 2q37.
Human genetics 1999;104(3):254-6.
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1999: Chance P F
Molecular genetics of hereditary neuropathies.
Journal of child neurology 1999;14(1):43-52.
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1999: Keller M P; Chance P F
Inherited peripheral neuropathy.
Seminars in neurology 1999;19(4):353-62.
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1999: Chance P F
Survey of inherited peripheral nerve diseases.
Electroencephalography and clinical neurophysiology. Supplement 1999;50():121-8.
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1998: Chance P F; Rabin B A; Ryan S G; Ding Y; Scavina M; Crain B; Griffin J W; Cornblath D R
Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.
American journal of human genetics 1998;62(3):633-40.
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1998: Chance P F; Ashizawa T; Hoffman E P; Crawford T O
Molecular basis of neuromuscular diseases.
Physical medicine and rehabilitation clinics of North America 1998;9(1):49-81, vi.
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1998: Yamamoto M; Keller M P; Yasuda T; Hayasaka K; Ohnishi A; Yoshikawa H; Yanagihara T; Mitsuma T; Chance P F; Sobue G
Clustering of CMT1A duplication breakpoints in a 700 bp interval of the CMT1A-REP repeat.
Human mutation 1998;11(2):109-13.
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1997: Pellegrino J E; George R A; Biegel J; Farlow M R; Gardner K; Caress J; Brown M J; Rebbeck T R; Bird T D; Chance P F
Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25.
Human genetics 1997;101(3):277-83.
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1997: Pellegrino J E; Lensch M W; Muenke M; Chance P F
Clinical and molecular analysis in Joubert syndrome.
American journal of medical genetics 1997;72(1):59-62.
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1997: Ryan S G; Chance P F; Zou C H; Spinner N B; Golden J A; Smietana S
Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing.
Nature genetics 1997;17(1):92-5.
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1997: Lynch D R; Hara H; Yum S W; Chance P F; Scherer S S; Bird S J; Fischbeck K H
Autosomal dominant transmission of Dejerine-Sottas disease (HMSN III).
Neurology 1997;49(2):601-3.
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1997: Yamamoto M; Yasuda T; Hayasaka K; Ohnishi A; Yoshikawa H; Yanagihara T; Ikegami T; Yamamoto T; Ohashi H; Nishimura T; Mitsuma T; Kiyosawa H; Chance P F; Sobue G
Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP.
Human genetics 1997;99(2):151-4.
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1997: Ikegami T; Ikeda H; Chance P F; Kiyosawa H; Yamamoto M; Sobue G; Ohnishi A; Tachi N; Hayasaka K
Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2-12: analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging.
Human mutation 1997;9(6):563-6.
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1996: Chance P F; Windebank A J
Hereditary neuralgic amyotrophy.
Current opinion in neurology 1996;9(5):343-7.
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1996: Bingham P M; Spinner N B; Sovinsky L; Zackai E H; Chance P F
Infantile spasms associated with proximal duplication of chromosome 15q.
Pediatric neurology 1996;15(2):163-5.
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1996: Kiyosawa H; Chance P F
Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot.
Human molecular genetics 1996;5(6):745-53.
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1996: Allen T L; Brothman A R; Carey J C; Chance P F
Cytogenetic and molecular analysis in trisomy 12p.
American journal of medical genetics 1996;63(1):250-6.
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1996: Pellegrino J E; Rebbeck T R; Brown M J; Bird T D; Chance P F
Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q.
Neurology 1996;46(4):1128-32.
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1996: Graf W D; Chance P F; Lensch M W; Eng L J; Lipe H P; Bird T D
Severe vincristine neuropathy in Charcot-Marie-Tooth disease type 1A.
Cancer 1996;77(7):1356-62.
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1996: Pellegrino J E; Pellegrino L; Spinner N B; Sladky J; Chance P F; Zackai E H
Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy.
American journal of medical genetics 1996;61(4):377-81.
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1996: Yoshioka R; Dyck P J; Chance P F
Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2.
Neurology 1996;46(2):569-71.
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1996: Nelis E; Warner L E; Vriendt E D; Chance P F; Lupski J R; Van Broeckhoven C
Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies.
European journal of human genetics : EJHG 1996;4(6):329-33.
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1996: Roa B B; Warner L E; Garcia C A; Russo D; Lovelace R; Chance P F; Lupski J R
Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.
Human mutation 1996;7(1):36-45.
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1995: Kiyosawa H; Lensch M W; Chance P F
Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP.
Human molecular genetics 1995;4(12):2327-34.
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1995: Bone L J; Dahl N; Lensch M W; Chance P F; Kelly T; Le Guern E; Magi S; Parry G; Shapiro H; Wang S
New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.
Neurology 1995;45(10):1863-6.
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1995: Pericak-Vance M A; Barker D F; Bergoffen J A; Chance P; Cochrane S; Dahl N; Exler M C; Fain P R; Fairweather N D; Fischbeck K
Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1.
Human heredity 1995;45(3):121-8.
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1995: Fain P R; Kort E N; Chance P F; Nguyen K; Redd D F; Econs M J; Barker D F
A 2D crossover-based map of the human X chromosome as a model for map integration.
Nature genetics 1995;9(3):261-6.
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1994: Chance P F; Lensch M W; Lipe H; Brown R H; Brown R H; Bird T D
Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders.
Neurology 1994;44(12):2253-7.
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1994: Chance P F; Reilly M
Inherited neuropathies.
Current opinion in neurology 1994;7(5):372-80.
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1994: Chance P F; Lupski J R
Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders.
Baillière's clinical neurology 1994;3(2):373-85.
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1994: Fain P R; Barker D F; Chance P F
Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy.
American journal of human genetics 1994;54(2):229-35.
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1994: Chance P F; Abbas N; Lensch M W; Pentao L; Roa B B; Patel P I; Lupski J R
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.
Human molecular genetics 1994;3(2):223-8.
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1994: Chance P F; Fischbeck K H
Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies.
Human molecular genetics 1994;3 Spec No():1503-7.
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1993: Bergoffen J; Scherer S S; Wang S; Scott M O; Bone L J; Paul D L; Chen K; Lensch M W; Chance P F; Fischbeck K H
Connexin mutations in X-linked Charcot-Marie-Tooth disease.
Science (New York, N.Y.) 1993;262(5142):2039-42.
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1993: Roa B B; Dyck P J; Marks H G; Chance P F; Lupski J R
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
Nature genetics 1993;5(3):269-73.
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1993: Lupski J R; Chance P F; Garcia C A
Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP.
JAMA : the journal of the American Medical Association 1993;270(19):2326-30.
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1993: Chance P F; Pleasure D
Charcot-Marie-Tooth syndrome.
Archives of neurology 1993;50(11):1180-4.
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1993: Bergoffen J; Trofatter J; Pericak-Vance M A; Haines J L; Chance P F; Fischbeck K H
Linkage localization of X-linked Charcot-Marie-Tooth disease.
American journal of human genetics 1993;52(2):312-8.
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1993: O'Connell P; Plaetke R; Matsunami N; Odelberg S; Jorde L; Chance P; Leppert M; Lalouel J M; White R
An extended genetic linkage map and an "index" map for human chromosome 17.
Genomics 1993;15(1):38-47.
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1993: Chance P F; Alderson M K; Leppig K A; Lensch M W; Matsunami N; Smith B; Swanson P D; Odelberg S J; Disteche C M; Bird T D
DNA deletion associated with hereditary neuropathy with liability to pressure palsies.
Cell 1993;72(1):143-51.
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1992: Chance P F; Bird T D; Matsunami N; Lensch M W; Brothman A R; Feldman G M
Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A.
Neurology 1992;42(12):2295-9.
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1992: Chance P F; Matsunami N; Lensch W; Smith B; Bird T D
Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus.
Neurology 1992;42(10):2037-41.
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1990: Chance P F; Bird T D; O'Connell P; Lipe H; Lalouel J M; Leppert M
Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).
American journal of human genetics 1990;47(6):915-25.
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1988: Youssoufian H; Chance P; Tuck-Muller C M; Jabs E W
Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene.
Human genetics 1988;78(3):267-70.
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