Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data
Nambot, S., Gavrilov, D., Thevenon, J., Bruel, A.L., Bainbridge, M., Rio, M., Goizet, C., Rötig, A., Jaeken, J., Niu, N., Xia, F., Vital, A., Houcinat, N., Mochel, F., Kuentz, P., Lehalle, D., Duffourd, Y., Rivière, J.B., Thauvin‐Robinet, C., Beaudet, A.L., Faivre, L.
Published in Clinical genetics (01.08.2017)
Published in Clinical genetics (01.08.2017)
Get full text
Journal Article
22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH
Dhar, S.U., del Gaudio, D., German, J.R., Peters, S.U., Ou, Z., Bader, P.I., Berg, J.S., Blazo, M., Brown, C.W., Graham, B.H., Grebe, T.A., Lalani, S., Irons, M., Sparagana, S., Williams, M., Phillips III, J.A., Beaudet, A.L., Stankiewicz, P., Patel, A., Cheung, S.W., Sahoo, T.
Published in American journal of medical genetics. Part A (01.03.2010)
Published in American journal of medical genetics. Part A (01.03.2010)
Get full text
Journal Article
Exon-Targeted Array CGH for Identification of Clinically Relevant Small-Sized, Intragenic CNVs
Patel, Ankita, Rosenfeld-Mokry, J, Gambin, T, Liu, P, Bi, W, Breman, A, Smith, J, Lalani, S, Bacino, C, Beaudet, A.L, Lupski, J.R, Shaw, C.A, Cheung, S.W, Stankiewicz, P
Published in Cancer genetics (01.05.2016)
Published in Cancer genetics (01.05.2016)
Get full text
Journal Article
OC05.07: Pathologic copy number variations (CNVs) in fetuses with a normal karyotype: does the indication for testing matter?
Bornstein, E., Berger, S., Cheung, S.W., Maliszewski, K.T., Bacino, C.A., Patel, A., Beaudet, A.L., Divon, M.Y.
Published in Ultrasound in obstetrics & gynecology (01.09.2015)
Published in Ultrasound in obstetrics & gynecology (01.09.2015)
Get full text
Journal Article
34 - Exon-Targeted Array CGH for Identification of Clinically Relevant Small-Sized, Intragenic CNVs
Patel, Ankita, Rosenfeld-Mokry, J., Gambin, T., Liu, P., Bi, W., Breman, A., Smith, J., Lalani, S., Bacino, C., Beaudet, A.L., Lupski, J.R., Shaw, C.A., Cheung, S.W., Stankiewicz, P.
Published in Cancer genetics (01.05.2016)
Published in Cancer genetics (01.05.2016)
Get full text
Journal Article
Leukocyte migration in adipose tissue of mice null for ICAM-1 and Mac-1 adhesion receptors
Robker, R.L, Collins, R.G, Beaudet, A.L, Mersmann, H.J, Smith, C.W
Published in Obesity (Silver Spring, Md.) (01.06.2004)
Published in Obesity (Silver Spring, Md.) (01.06.2004)
Get full text
Journal Article
Severe inflammatory defect and reduced viability in CD18 and E-selectin double-mutant mice
Forlow, S B, White, E J, Barlow, S C, Feldman, S H, Lu, H, Bagby, G J, Beaudet, A L, Bullard, D C, Ley, K
Published in The Journal of clinical investigation (01.12.2000)
Published in The Journal of clinical investigation (01.12.2000)
Get full text
Journal Article
A search for the primary abnormality in adult-onset type II citrullinemia
KOBAYASHI, K, NAZMA SHAHEEN, KUMASHIRO, R, TANIKAWA, K, O'BRIEN, W. E, BEAUDET, A. L, SAHEKI, T
Published in American journal of human genetics (01.11.1993)
Get full text
Published in American journal of human genetics (01.11.1993)
Journal Article
A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11–q13) and refined localization of the SNRPN gene
Mutirangura, Apiwat, Jayakumar, Arumugam, Sutcliffe, James S., Nakao, Mitsuyoshi, Mckinney, Mary Jane, Buiting, Karin, Horsthemke, Bernhard, Beaudet, Arthur L., Craig Chinault, A., Ledbetter, David H.
Published in Genomics (San Diego, Calif.) (01.12.1993)
Published in Genomics (San Diego, Calif.) (01.12.1993)
Get full text
Journal Article
The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus
KWIATKOWSKI, T. J, ORR, H. T, SUBRAMONY, S. H, BEAUDET, A. L, TERRENATO, L, ZOGHBI, H. Y, RANUM, L. P. W, BANFI, S, MCCALL, A. E, JODICE, C, PERSICHETTI, F, NOVELLETTO, A, LE BORGNE-DE MARQUOY, F, DUVICK, L. A, FRONTALI, M
Published in American journal of human genetics (01.08.1993)
Get full text
Published in American journal of human genetics (01.08.1993)
Journal Article
Additional polymorphism for D7S8 linked to cystic fibrosis including detection by DNA amplification
Northrup, H, Rosenbloom, C, O'Brien, W E, Beaudet, A L
Published in Nucleic acids research (25.02.1989)
Published in Nucleic acids research (25.02.1989)
Get full text
Journal Article
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases
Gibson, KM, Lee, CF, Kamali, V, Johnston, K, Beaudet, AL, Craigen, WJ, Powell, BR, Schwartz, R, Tsai, MY, Tuchman, M
Published in Clinical chemistry (Baltimore, Md.) (01.02.1990)
Published in Clinical chemistry (Baltimore, Md.) (01.02.1990)
Get full text
Journal Article
Molecular structure of the human argininosuccinate synthetase gene: occurrence of alternative mRNA splicing
Freytag, S O, Beaudet, A L, Bock, H G, O'Brien, W E
Published in Molecular and Cellular Biology (01.10.1984)
Published in Molecular and Cellular Biology (01.10.1984)
Get full text
Journal Article
Cloning of cDNA for argininosuccinate synthetase mRNA and study of enzyme overproduction in a human cell line
Su, T S, Bock, H G, O'Brien, W E, Beaudet, A L
Published in The Journal of biological chemistry (25.11.1981)
Published in The Journal of biological chemistry (25.11.1981)
Get full text
Journal Article