AAAAAA
Results:
1-17
|
Results: 17
Authors:
Street, VA
Goldy, JD
Golden, AS
Tempel, BL
Bird, TD
Chance, PF
Citation: Va. Street et al., Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies, AM J HU GEN, 70(1), 2002, pp. 244-250
Authors:
Bennett, CL
Chance, PF
Citation: Cl. Bennett et Pf. Chance, Molecular pathogenesis of hereditary motor, sensory and autonomic neuropathies, CURR OP NEU, 14(5), 2001, pp. 621-627
Authors:
Bennett, CL
Christie, J
Ramsdell, F
Brunkow, ME
Ferguson, PJ
Whitesell, L
Kelly, TE
Saulsbury, FT
Chance, PF
Ochs, HD
Citation: Cl. Bennett et al., The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3, NAT GENET, 27(1), 2001, pp. 20-21
Authors:
Bennett, CL
Brunkow, ME
Ramsdell, F
O'Briant, KC
Zhu, Q
Fuleihan, RL
Shigeoka, AO
Ochs, HD
Chance, PF
Citation: Cl. Bennett et al., A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA -> AAUGAA) leads to the IPEX syndrome, IMMUNOGENET, 53(6), 2001, pp. 435-439
Authors:
Jeannet, PY
Watts, GDJ
Bird, TD
Chance, PF
Citation: Py. Jeannet et al., Craniofacial and cutaneous findings expand the phenotype of hereditary neuralgic amyotrophy, NEUROLOGY, 57(11), 2001, pp. 1963-1968
Authors:
Watts, GDJ
O'Briant, KC
Borreson, TE
Windebank, AJ
Chance, PF
Citation: Gdj. Watts et al., Evidence for genetic heterogeneity in hereditary neuralgic amyotrophy, NEUROLOGY, 56(5), 2001, pp. 675-678
Authors:
Han, LL
Keller, MP
Navidi, W
Chance, PF
Arnheim, N
Citation: Ll. Han et al., Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate, HUM MOL GEN, 9(12), 2000, pp. 1881-1889
Authors:
Bennett, CL
Yoshioka, R
Kiyosawa, H
Barker, DF
Fain, PR
Shigeoka, AO
Chance, PF
Citation: Cl. Bennett et al., X-linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3, AM J HU GEN, 66(2), 2000, pp. 461-468
Authors:
Keller, MP
Chance, PF
Citation: Mp. Keller et Pf. Chance, Inherited neuropathies: From gene to disease, BRAIN PATH, 9(2), 1999, pp. 327-341
Authors:
Kalikin, LM
George, RAV
Keller, MP
Bort, S
Bowler, NS
Law, DJ
Chance, PF
Petty, EM
Citation: Lm. Kalikin et al., An integrated physical and gene map of human distal chromosome 17q24-proximal 17q25 encompassing multiple disease loci, GENOMICS, 57(1), 1999, pp. 36-42
Authors:
Chance, PF
Cavalier, L
Satran, D
Pellegrino, JE
Boltshauser, E
Koening, M
Dobyns, WB
Citation: Pf. Chance et al., Clinical nosologic and genetic aspects of Joubert and related syndromes (vol 14, pg 660, 1999), J CHILD NEU, 14(12), 1999, pp. 823-823
Authors:
Chance, PF
Cavalier, L
Satran, D
Pellegrino, JE
Koenig, M
Dobyns, WB
Citation: Pf. Chance et al., Clinical nosologic and genetic aspects of Joubert and related syndromes, J CHILD NEU, 14(10), 1999, pp. 660-666
Authors:
Chance, PF
Citation: Pf. Chance, Molecular genetics of hereditary neuropathies, J CHILD NEU, 14(1), 1999, pp. 43-52
Authors:
Keller, MP
Seifried, BA
Chance, PF
Citation: Mp. Keller et al., Molecular evolution of the CMT1A-REP region: A human- and chimpanzee-specific repeat, MOL BIOL EV, 16(8), 1999, pp. 1019-1026
Authors:
Keller, MP
Seifried, BA
Rabin, BA
Chance, PF
Citation: Mp. Keller et al., Mapping of the kinesin-related gene ATSV to chromosome 2q37, HUM GENET, 104(3), 1999, pp. 254-256
Authors:
Keller, MP
Chance, PF
Citation: Mp. Keller et Pf. Chance, Inherited peripheral neuropathy, SEM NEUROL, 19(4), 1999, pp. 353-362
Authors:
Rabin, BA
Griffin, JW
Crain, BJ
Scavina, M
Chance, PF
Cornblath, DR
Citation: Ba. Rabin et al., Autosomal dominant juvenile amyotrophic lateral sclerosis, BRAIN, 122, 1999, pp. 1539-1550
Risultati:
1-17
|