Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity von Bachmann-Gagescu, R, Dempsey, J C, Phelps, I G, O'Roak, B J, Knutzen, D M, Rue, T C, Ishak, G E, Isabella, C R, Gorden, N, Adkins, J, Boyle, E A, de Lacy, N, O'Day, D, Alswaid, A, Ramadevi A, Radha, Lingappa, L, Lourenço, C, Martorell, L, Garcia-Cazorla, À, Ozyürek, H, Haliloğlu, G, Tuysuz, B, Topçu, M, Chance, P, Parisi, M A, Glass, I A, Shendure, J, Doherty, D

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The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3 von 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

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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) von 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

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Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C von 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

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Microarray Analysis Reveals Overexpression of both Integral Membrane and Cytosolic Tight Junction Genes in Endometrial Cancer Cell Lines von Cuevas, Maria E, Winters, Chance P, Todd, Maria C

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SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy von HANNIBAL, M. C, RUZZO, E. K, BEDFORD, H. M, WORRALL, B. B, LOVITT, S, APPEL, S. H, ANDERMANN, E, BIRD, T. D, CHANCE, P. F, MILLER, L. R, BETZ, B, BUCHAN, J. G, KNUTZEN, D. M, BARNETT, K, LANDSVERK, M. L, BRICE, A, LEGUERN, E

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Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease von 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.

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AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome von 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

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Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy von 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

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A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome von 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

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DNA deletion associated with hereditary neuropathy with liability to pressure palsies von 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.

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Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation - a family study von Laccone, F, Hannibal, MC, Neesen, J, Grisold, W, Chance, PF, Rehder, H

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The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome von 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.

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Structure guided development of potent piperazine-derived hydroxamic acid inhibitors targeting falcilysin von Kahlon, Gulbag, Lira, Rogelio, Masvlov, Nikolay, Pompa, Emmett, Brar, Nimrat, Eagon, Scott, Anderson, Marc O., Andaya, Armann, Chance, Jeff P., Fejzic, Hannah, Keniston, Aaron, Huynh, Ngoc, Celis, Nohemy, Vidal, Brian, Trieu, Nicholas, Rodriguez, Paulina, Mallari, Jeremy P.

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Late-onset hereditary axonal neuropathies von BENNETT, C. L, LAWSON, V. H, BIRD, T. D, BRICKELL, K. L, ISAACS, K, SELTZER, W, LIPE, H. P, WEISS, M. D, CARTER, G. T, FLANIGAN, K. M, CHANCE, P. F

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In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome von BASSUK, A. G, CHEN, Y. Z, BATISH, S. D, NAGAN, N, OPAL, P, CHANCE, P. F, BENNETT, C. L

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Corrigendum to “Structure guided development of potent piperazine-derived hydroxamic acid inhibitors targeting falcilysin” [Bioorg. Med. Chem. Lett. 32 (2021) 127683] von Kahlon, Gulbag, Lira, Rogelio, Masvlov, Nikolay, Pompa, Emmett, Brar, Nimrat, Eagon, Scott, Anderson, Marc O., Andaya, Armann, Chance, Jeff P., Fejzic, Hannah, Keniston, Aaron, Huynh, Ngoc, Celis, Nohemy, Vidal, Brian, Trieu, Nicholas, Rodriguez, Paulina, Mallari, Jeremy P.

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Linkage of the Gene for an Autosomal Dominant Form of Juvenile Amyotrophic Lateral Sclerosis to Chromosome 9q34 von Chance, Phillip F., Rabin, Bruce A., Ryan, Stephen G., Ding, Yuan, Scavina, Mena, Crain, Barbara, Griffin, John W., Cornblath, David R.

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X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea Maps to Xp11.23-Xq13.3 von Bennett, Craig L., Yoshioka, Ritsuko, Kiyosawa, Hidenori, Barker, David F., Fain, Pamela R., Shigeoka, Ann O., Chance, Phillip F.

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Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17 von Chance, Phillip F., Abbas, Nacer, Lensch, M.William, Pentao, Liu, Roa, Benjamin B., Patel, Pragna I., Lupski, James R.

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