Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
Doherty, D, Parisi, M A, Finn, L S, Gunay-Aygun, M, Al-Mateen, M, Bates, D, Clericuzio, C, Demir, H, Dorschner, M, van Essen, A J, Gahl, W A, Gentile, M, Gorden, N T, Hikida, A, Knutzen, D, Özyurek, H, Phelps, I, Rosenthal, P, Verloes, A, Weigand, H, Chance, P F, Dobyns, W B, Glass, I A
Published in Journal of medical genetics (01.01.2010)
Published in Journal of medical genetics (01.01.2010)
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Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C
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
Published in Neurology (14.01.2003)
Published in Neurology (14.01.2003)
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SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy
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
Published in Neurology (19.05.2009)
Published in Neurology (19.05.2009)
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AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
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
Published in Journal of medical genetics (01.04.2006)
Published in Journal of medical genetics (01.04.2006)
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Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy
Collie, A M B, Landsverk, M L, Ruzzo, E, Mefford, H C, Buysse, K, Adkins, J R, Knutzen, D M, Barnett, K, Brown, R H, Parry, G J, Yum, S W, Simpson, D A, Olney, R K, Chinnery, P F, Eichler, E E, Chance, P F, Hannibal, M C
Published in Journal of medical genetics (01.09.2010)
Published in Journal of medical genetics (01.09.2010)
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Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease
Bergoffen, J., Scherer, S. S., Wang, S., Scott, M. Oronzi, Bone, L. J., Paul, D. L., Chen, K., Lensch, M. W., Chance, P. F., Fischbeck, K. H.
Published in Science (American Association for the Advancement of Science) (24.12.1993)
Published in Science (American Association for the Advancement of Science) (24.12.1993)
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The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
Ochs, Hans D, Bennett, Craig L, Christie, Jacinda, Ramsdell, Fred, Brunkow, Mary E, Ferguson, Polly J, Whitesell, Luke, Kelly, Thaddeus E, Saulsbury, Frank T, Chance, Phillip F
Published in Nature genetics (01.01.2001)
Published in Nature genetics (01.01.2001)
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Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation - a family study
Laccone, F, Hannibal, MC, Neesen, J, Grisold, W, Chance, PF, Rehder, H
Published in Clinical genetics (01.09.2008)
Published in Clinical genetics (01.09.2008)
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DNA deletion associated with hereditary neuropathy with liability to pressure palsies
Chance, Phillip F., Alderson, Mary Kathryn, Leppig, Kathleen A., Lensch, M.William, Matsunami, Norisada, Smith, Brooke, Swanson, Phillip D., Odelberg, Shannon J., Disteche, Christine M., Bird, Thomas D.
Published in Cell (15.01.1993)
Published in Cell (15.01.1993)
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Late-onset hereditary axonal neuropathies
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
Published in Neurology (01.07.2008)
Published in Neurology (01.07.2008)
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In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome
BASSUK, A. G, CHEN, Y. Z, BATISH, S. D, NAGAN, N, OPAL, P, CHANCE, P. F, BENNETT, C. L
Published in Neurogenetics (2007)
Published in Neurogenetics (2007)
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Linkage of the Gene for an Autosomal Dominant Form of Juvenile Amyotrophic Lateral Sclerosis to Chromosome 9q34
Chance, Phillip F., Rabin, Bruce A., Ryan, Stephen G., Ding, Yuan, Scavina, Mena, Crain, Barbara, Griffin, John W., Cornblath, David R.
Published in American journal of human genetics (01.03.1998)
Published in American journal of human genetics (01.03.1998)
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Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures
BENNETT, C. L, HUYNH, H. M, CHANCE, P. F, GLASS, I. A, GOSPE, S. M
Published in Neurogenetics (01.09.2005)
Published in Neurogenetics (01.09.2005)
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X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea Maps to Xp11.23-Xq13.3
Bennett, Craig L., Yoshioka, Ritsuko, Kiyosawa, Hidenori, Barker, David F., Fain, Pamela R., Shigeoka, Ann O., Chance, Phillip F.
Published in American journal of human genetics (01.02.2000)
Published in American journal of human genetics (01.02.2000)
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Autosomal dominant juvenile amyotrophic lateral sclerosis
Rabin, Bruce A., Griffin, John W., Crain, Barbara J., Scavina, Mena, Chance, Philip F., Cornblath, David R.
Published in Brain (London, England : 1878) (01.08.1999)
Published in Brain (London, England : 1878) (01.08.1999)
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Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
Chance, P F, Abbas, N, Lensch, M W, Pentao, L, Roa, B B, Patel, P I, Lupski, J R
Published in Human molecular genetics (01.02.1994)
Published in Human molecular genetics (01.02.1994)
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Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q
Pellegrino, J E, Rebbeck, T R, Brown, M J, Bird, T D, Chance, P F
Published in Neurology (01.04.1996)
Published in Neurology (01.04.1996)
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New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease
Bone, L J, Dahl, N, Lensch, M W, Chance, P F, Kelly, T, Le Guern, E, Magi, S, Parry, G, Shapiro, H, Wang, S
Published in Neurology (01.10.1995)
Published in Neurology (01.10.1995)
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