A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease von Puffenberger, Erik G., Hosoda, Kiminori, Washington, Sarah S., Nakao, Kazuwa, deWit, Damiane, Yanagisawa, Masashi, Chakravarti, Aravinda

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Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2 von Strauss, Kevin A, Puffenberger, Erik G, Huentelman, Matthew J, Gottlieb, Steven, Dobrin, Seth E, Parod, Jennifer M, Stephan, Dietrich A, Morton, D. Holmes

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Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease von Chakravarti, Aravinda, Carrasquillo, Minerva M, McCallion, Andrew S, Puffenberger, Erik G, Kashuk, Carl S, Nouri, Nassim

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Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT von Bull, Laura N, Carlton, Victoria E. H, Harris, Baruch Z, Puffenberger, Erik G, Batta, A. K, Knisely, A. S, Robinson, Donna L, Strauss, Kevin A, Shneider, Benjamin L, Lim, Wendell A, Salen, Gerald, Morton, D. Holmes

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Elective Liver Transplantation for the Treatment of Classical Maple Syrup Urine Disease von Strauss, K. A., Mazariegos, G. V., Sindhi, R., Squires, R., Finegold, D. N., Vockley, G., Robinson, D. L., Hendrickson, C., Virji, M., Cropcho, L., Puffenberger, E. G., McGhee, W., Seward, L. M., Morton, D. H.

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Diagnosis and Treatment of Maple Syrup Disease: A Study of 36 Patients von Morton, D. Holmes, Strauss, Kevin A, Robinson, Donna L, Puffenberger, Erik G, Kelley, Richard I

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Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease von STRAUSS, Kevin A, ROBINSON, Donna L, VREMAN, Hendrik J, PUFFENBERGER, Erik G, HART, Graham, MORTON, D. Holmes

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Mapping of Sudden Infant Death with Dysgenesis of the Testes Syndrome (SIDDT) by a SNP Genome Scan and Identification of TSPYL Loss of Function von Puffenberger, Erik G., Hu-Lince, Diane, Parod, Jennifer M., Craig, David W., Dobrin, Seth E., Conway, Andrew R., Donarum, Elizabeth A., Strauss, Kevin A., Dunckley, Travis, Cardenas, Javier F., Melmed, Kara R., Wright, Courtney A., Liang, Winnie, Stafford, Phillip, Flynn, C. Robert, Morton, D. Holmes, Stephan, Dietrich A., de la Chapelle, Albert

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Identification of disease causing loci using an array-based genotyping approach on pooled DNA von Craig, David W, Huentelman, Matthew J, Hu-Lince, Diane, Zismann, Victoria L, Kruer, Michael C, Lee, Anne M, Puffenberger, Erik G, Pearson, John M, Stephan, Dietrich A

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Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy von Nakabayashi, Kazuhiko, Amann, Daniela, Ren, Yan, Saarialho-Kere, Ulpu, Avidan, Nili, Gentles, Simone, MacDonald, Jeffrey R., Puffenberger, Erik G., Christiano, Angela M., Martinez-Mir, Amalia, Salas-Alanis, Julio C., Rizzo, Renata, Vamos, Esther, Raams, Anja, Les, Clifford, Seboun, Eric, Jaspers, Nicolaas G.J., Beckmann, Jacques S., Jackson, Charles E., Scherer, Stephen W.

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A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders von Innes, AM, Boycott, KM, Puffenberger, EG, Redl, D, MacDonald, IM, Chudley, AE, Beaulieu, C, Perrier, R, Gillan, T, Wade, A, Parboosingh, JS

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Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease von Angrist, Misha, Bolk, Stacey, Thiel, Bonnie, Puffenberger, Erik G., Hofstra, Robert M., Buys, Charles H.C.M., Cass, Daniel T., Chakravarti, Aravinda

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Rapid Identification of a Bone Marrow Donor Within a Family Using Single Nucleotide Polymorphisms (SNPs) von Rider, N.L, Strauss, K.A, Puffenberger, E.G, Morton, D.H

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Allele frequency distributions in pooled DNA samples: applications to mapping complex disease genes von Shaw, S H, Carrasquillo, M M, Kashuk, C, Puffenberger, E G, Chakravarti, A

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Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22 von G.Puffenberger, Erik, R.Kauffman, Erick, Bolk, Stacey, C.Matise, Tara, S.Washington, Sarah, Angrist, Misha, Weissenbach, Jean, L.Garver, Kenneth, Mascari, Maria, Ladda, Roger, A.SIaugenhaupt, Susan, Chakravarti, Aravinda

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Elevated Frequency and Allelic Heterogeneity of Congenital Nephrotic Syndrome, Finnish Type, in the Old Order Mennonites von Bolk, Stacey, Puffenberger, Erik G., Hudson, Jim, Morton, D. Holmes, Chakravarti, Aravinda

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Genome-wide SNP arrays as a diagnostic tool: Clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population von Strauss, Kevin A., Puffenberger, Erik G., Craig, David W., Panganiban, Corrie B., Lee, Anne M., Hu-Lince, Diane, Stephan, Dietrich A., Morton, D. Holmes

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A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10 von Shaw Washington, Sarah, Angrist, Misha, Kauffman, Erick, Slaugenhaupt, Susan A, Lipson, Anthony, Puffenberger, Erik G, Cass, Daniel T, Cox Matise, Tara, Chakravarti, Aravinda, Sieber, William, Weeks, Daniel E, Reyna, Troy

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MARFAN PHENOTYPE VARIABILITY IN A FAMILY SEGREGATING A MISSENSE MUTATION IN THE EPIDERMAL GROWTH-FACTOR LIKE MOTIF OF THE FIBRILLIN GENE von DIETZ, HC, PYERITZ, RE, PUFFENBERGER, EG, KENDZIOR, RJ, CORSON, GM, MASLEN, CL, SAKAI, LY, FRANCOMANO, CA, CUTTING, GR

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Fine mapping of the nail-patella syndrome locus at 9q34 von MCINTOSH, I, CLOUGH, M. V, KWIATKOWSKI, D. J, PYERITZ, R. E, BROWN, L. J, PAULI, R. M, MCCORMICK, M. K, FRANCOMANO, C. A, SCHÄFFER, A. A, PUFFENBERGER, E. G, HORTON, V. K, PETERS, K, ABBOTT, M. H, ROIG, C. M, CUTONE, S, OZELIUS, L

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