Search Results - "IDE, S. E"

Mutation in the α-synuclein gene identified in families with Parkinson's disease by POLYMEROPOULOS, M. H, LAVEDAN, C, STENROOS, E. S, CHANDRASEKHARAPPA, S, ATHANASSIADOU, A, PAPAPETROPOULOS, T, JOHNSON, W. G, LAZZARINI, A. M, DUVOISIN, R. C, DI LORIO, G, GOLBE, L. I, NUSSBAUM, R. L, LEROY, E, IDE, S. E, DEHEJIA, A, DUTRA, A, PIKE, B, ROOT, H, RUBENSTEIN, J, BOYER, R

“…Parkinson's disease (PD) is a common neurodegenerative disorder with a lifetime incidence of approximately 2 percent. A pattern of familial aggregation has…”
Get full text

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis by Goodship, Judith, Ruiz-Perez, Victor L, Ide, Susan E, Strom, Tim M, Lorenz, Bettina, Wilson, David, Woods, Kathryn, King, Lynn, Francomano, Clair, Freisinger, Peter, Spranger, Stephanie, Marino, Bruno, Dallapiccola, Bruno, Wright, Michael, Meitinger, Thomas, Polymeropoulos, Mihael H

“…Ellis-van Creveld syndrome (EvC, MIM 225500) is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly and…”
Get full text

Mutations in American families with spinocerebellar ataxia (SCA) type 3 : SCA3 is allelic to Machado-Joseph disease by HIGGINS, J. J, NEE, L. E, VASCONCELOS, O, IDE, S. E, LAVEDAN, C, GOLDFARB, L. G, POLYMEROPOULOS, M. H

“…We identified an expansion of the CAG trinucleotide repeat in the coding region of the Machado-Joseph disease gene in 7 of 24 American families diagnosed with…”
Get full text

The Gene for the Ellis–van Creveld Syndrome Is Located on Chromosome 4p16 by Polymeropoulos, Mihael H., Ide, Susan E., Wright, Michael, Goodship, Judith, Weissenbach, Jean, Pyeritz, Reed E., Da Silva, Elias O., Ortiz De Luna, Rosa Isela, Francomano, Clair A.

“…Ellis–van Creveld syndrome (EVC) is an autosomal recessive disorder characterized by disproportionate dwarfism, polydactyly, and congenital heart disease. This…”
Get full text

Evidence for a new spinocerebellar ataxia locus by Higgins, J. J., Pho, L. T., Ide, S. E., Nee, L. E., Polymeropoulos, M. H.

“…The autosomal dominant ataxias (ADA) are a diverse group of multisystem, neurodegenerative disorders characterized by mutations at several chromosomal loci…”
Get full text

Mapping of a Gene for Parkinson's Disease to Chromosome 4q21-q23 by Polymeropoulos, Mihael H., Higgins, Joseph J., Golbe, Lawrence I., Johnson, William G., Ide, Susan E., Di Iorio, Giuseppe, Sanges, Giuseppe, Stenroos, Edward S., Pho, Lana T., Schaffer, Alejandro A., Lazzarini, Alice M., Nussbaum, Robert L., Duvoisin, Roger C.

“…Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease, affecting approximately 1 percent of the population…”
Get full text

Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish by IDE, S. E, ORTIZ DE LUNA, R. I, FRANCOMANO, C. A, POLYMEROPOULOS, M. H

“…Ellis van Creveld syndrome (EVC) is an autosomal recessive disorder which has previously been mapped to human chromosome 4p16.1. This disorder is characterized…”
Get full text

Dinucleotide repeat polymorphism at the D14S99E locus by Polymeropoulos, M H, Xiao, H, Ide, S E, Merril, C R

Get more information

Dinucleotide repeat polymorphism at the D11S982E locus by Xiao, H, Ide, S E, Merril, C R, Polymeropoulos, M H

Get more information

The gene for pycnodysostosis maps to human chromosome 1cen-q21 by Polymeropoulos, Mihael H, Ortiz De Luna, Rosa Isela, Torres, Rosarelis, Francomano, Clair A, Ide, Susan E, Rubenstein, Jeffrey

“…Pycnodysostosis (OMIM 265800) is an autosomal recessive skeletal disorder first described by Maroteaux and Lamy that is characterized by short stature,…”
Get full text

Brachydactyly Type C Gene Maps to Human Chromosome 12q24 by Polymeropoulos, Mihael H., Ide, Susan E., Magyari, Trish, Francomano, Clair A.

“…Brachydactyly type C is an autosomal dominant disorder characterized by abnormal segmentation of the index and middle fingers segregating with a high degree of…”
Get full text

The G209A mutation in the alpha-synuclein gene in Brazilian families with Parkinson's disease by Teive, H A, Raskin, S, Iwamoto, F M, Germiniani, F M, Baran, M H, Werneck, L C, Allan, N, Quagliato, E, Leroy, E, Ide, S E, Polymeropoulos, M H

“…A missense G209A mutation of the alpha-synuclein gene was recently described in a large Contursi kindred with Parkinson's disease (PD). The objective of this…”
Get full text

Linkage and cytogenetic mapping of a CAG repeat containing human cDNA to 3p24.2-p22 by Polymeropoulos, Mihael H., Ide, Susan E., Becker, Kevin, Naylor, Susan L.

“…A trinucleotide (CAG)n repeat containing cDNA was isolated from a human cDNA library and sequenced. The locus was mapped by linkage analysis in the CEPH…”
Get full text

Lack of mutations in the biotin-binding region of the pyruvate carboxylase (PC) gene in a family with partial PC deficiency by Higgins, Joseph J., Ide, Susan E., Oghalai, John S., Polymeropoulos, Mihael H.

Get full text

RETURNING GENETIC RESEARCH RESULTS TO INDIVIDUALS: POINTS-TO-CONSIDER by RENEGAR, GAILE, WEBSTER, CHRISTOPHER J., STUERZEBECHER, STEFFEN, HARTY, LEA, IDE, SUSAN E., BALKITE, BETH, ROGALSKI-SALTER, TARYN A., COHEN, NADINE, SPEAR, BRIAN B., BARNES, DIANE M., BRAZELL, CELIA

“…ABSTRACT This paper is intended to stimulate debate amongst stakeholders in the international research community on the topic of returning individual genetic…”
Get full text

Genomic structure and localization of the human protein phosphatase 2A BRgamma regulatory subunit by Torres, R, Ide, S E, Dehejia, A, Baras, A, Polymeropoulos, M H

“…In the course of our analysis of genomic sequence from the human chromosome 4p16.1 region harboring both the Wolfram and Ellis van Creveld syndrome genes we…”
Get full text

Brachydactyly type C gene maps to human chromsome 12q24 by Polymeropoulos, M H, Ide, S E, Magyari, T, Francomano, C A

“…Brachydactyly type C is an autosomal dominant disorder characterized by abnormal segmentation of the index and middle fingers segregating with a high degree of…”
Get full text

Contig map of the Parkinson's disease region on 4q21-q23 by Lavedan, C, Dehejia, A, Pike, B, Dutra, A, Leroy, E, Ide, S E, Root, H, Rubenstein, J, Boyer, R L, Chandrasekharappa, S, Makalowska, I, Nussbaum, R L, Polymeropoulos, M H

“…We have constructed a yeast artificial chromosome contig (YAC) map of human chromosome 4q21-q23 across the Parkinson's disease region by combining molecular…”
Get full text

Genome Maps 7: The Human Transcript Map by Jasny, Barbara R., Schuler, G. D., Boguski, M. S., Hudson, T. J., Hui, L., Ma, J., Wu, X., Silva, J., Nusbaum, H. C., Birren, B. B., Slonim, D. K., Rozen, S., Stein, L. D., Page, D., Lander, E. S., Stewart, E. A., Aggarwal, A., Brady, S., Chu, A., Fang, N., Hadley, D., Harris, M., Maratukulam, A., Perkins, S., Piercy, M., Qin, F., Reif, T., Sanders, C., She, X., Sun, W. L., Tabar, P., Voyticky, S., Mader, C., McKusick, K. B., Fan, J. B., Cowles, S., Quackenbush, J., Vollrath, D., Myers, R. M., Cox, D. R., Butler, A., Clee, C., Dibling, T., East, C., Edwards, C., Garrett, C., Green, L., Harrison, P., Hicks, A., Holloway, E., Ranby, S., MacGilvery, A., Mungall, A., Peck, A., Wilmer, T., Soderlund, C., Rice, K., Dunham, I., Bentley, D., Deloukas, P., Gyapay, G., Chiannilkulchai, N., Fizames, C., Bentolila, S., Duprat, S., Vega-Czarny, N., Muselet, D., Drouot, N., Morissette, J., Beckmann, J., Weissenbach, J., James, M. R., Thangarajah, T., C. Louis-Dit-Sully, Day, P. J. R., Goodfellow, P. N., Walter, N. A. R., Berry, R., Iorio, K. R., Sikela, J. M., Polymeropoulos, M. H., Torres, R., Ide, S. S. E., Dehejia, A., Houlgatte, R., Auffray, C., Adams, M. D., Phillips, C., Brandon, R., Sandusky, M., Venter, J. C., Seki, N., Nagase, T., Ishikawa, K., Nomura, N., Rodriguez-Tome, P., Matise, T. C., Lee, W. Y., Swanson, K. A., Hudson, J. R.

Get full text