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Results: 1-25/56
Authors:
Osborne, LR
Li, M
Pober, B
Chitayat, D
Bodurtha, J
Mandel, A
Costa, T
Grebe, T
Cox, S
Tsui, LC
Scherer, SW
Citation: Lr. Osborne et al., A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome, NAT GENET, 29(3), 2001, pp. 321-325
Authors:
Hadano, S
Hand, CK
Osuga, H
Yanagisawa, Y
Otomo, A
Devon, RS
Miyamoto, N
Showguchi-Miyata, J
Okada, Y
Singaraja, R
Figlewicz, DA
Kwiatkowski, T
Hosler, BA
Sagie, T
Skaug, J
Nasir, J
Brown, RH
Scherer, SW
Rouleau, GA
Hayden, MR
Ikeda, JE
Citation: S. Hadano et al., A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 (vol 29, pg 166, 2001), NAT GENET, 29(3), 2001, pp. 352-352
Authors:
Hadano, S
Hand, CK
Osuga, H
Yanagisawa, Y
Otomo, A
Devon, RS
Miyamoto, N
Showguchi-Miyata, J
Okada, Y
Singaraja, R
Figlewicz, DA
Kwiatkowski, T
Hosler, BA
Sagie, T
Skaug, J
Nasir, J
Brown, RH
Scherer, SW
Rouleau, GA
Hayden, MR
Ikeda, JE
Citation: S. Hadano et al., A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2, NAT GENET, 29(2), 2001, pp. 166-173
Authors:
Ma, ZG
Morris, SW
Valentine, V
Li, M
Herbrick, JA
Cui, XL
Bouman, D
Li, Y
Mehta, PK
Nizetic, D
Kaneko, Y
Chan, GCF
Chan, LC
Squire, J
Scherer, SW
Hitzler, JK
Citation: Zg. Ma et al., Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia, NAT GENET, 28(3), 2001, pp. 220-221
Authors:
Scherer, SW
Cheung, J
Citation: Sw. Scherer et J. Cheung, Discovery of the human genome sequence in the public and private databases, CURR BIOL, 11(20), 2001, pp. R808-R811
Authors:
Cheung, J
Petek, E
Nakabayashi, K
Tsui, LC
Vincent, JB
Scherer, SW
Citation: J. Cheung et al., Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31, GENOMICS, 78(1-2), 2001, pp. 7-11
Authors:
Hannula, K
Lipsanen-Nyman, M
Scherer, SW
Holmberg, C
Hoglund, P
Kere, J
Citation: K. Hannula et al., Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA, GENOMICS, 73(1), 2001, pp. 1-9
Authors:
Nakabayashi, K
Scherer, SW
Citation: K. Nakabayashi et Sw. Scherer, The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35, GENOMICS, 73(1), 2001, pp. 108-112
Authors:
Hadano, S
Yanagisawa, Y
Skaug, J
Fichter, K
Nasir, J
Martindale, D
Koop, BF
Scherer, SW
Nicholson, DW
Rouleau, GA
Ikeda, JE
Hayden, MR
Citation: S. Hadano et al., Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: Candidate genes for ALS2, GENOMICS, 71(2), 2001, pp. 200-213
Authors:
Minassian, BA
Andrade, DM
Ianzano, L
Young, EJ
Chan, E
Ackerley, CA
Scherer, SW
Citation: Ba. Minassian et al., Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase, ANN NEUROL, 49(2), 2001, pp. 271-275
Authors:
Frohling, S
Nakabayashi, K
Scherer, SW
Dohner, H
Dohner, K
Citation: S. Frohling et al., Mutation analysis of the origin recognition complex subunit 5 (ORC5L) genein adult patients with myeloid leukemias exhibiting deletions of chromosome band 7q22, HUM GENET, 108(4), 2001, pp. 304-309
Authors:
Wilson, MD
Riemer, C
Martindale, DW
Schnupf, P
Boright, AP
Cheung, TL
Hardy, DM
Schwartz, S
Scherer, SW
Tsui, LC
Miller, W
Koop, BF
Citation: Md. Wilson et al., Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5, NUCL ACID R, 29(6), 2001, pp. 1352-1365
Authors:
Wong, CGT
Scherer, SW
Snead, OC
Hampson, DR
Citation: Cgt. Wong et al., Localization of the human mGluR4 gene within an epilepsy susceptibility locus, MOL BRAIN R, 87(1), 2001, pp. 109-116
Authors:
Petek, E
Windpassinger, C
Vincent, JB
Cheung, J
Boright, AP
Scherer, SW
Kroisel, PM
Wagner, K
Citation: E. Petek et al., Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome, AM J HU GEN, 68(4), 2001, pp. 848-858
Authors:
Dohner, K
Hehmann, U
Brown, J
Hetzel, C",Stewart,"Lowther, G
Scholl, C
Frohling, S
Cuneo, A
Tsui, LC
Lichter, P
Scherer, SW
Dohner, H
Citation: K. Dohner et al., Molecular cytogenetic characterization of a critical region in bands 7q35-q36 commonly deleted in malignant myeloid disorders, HEMAT BLOOD, 40, 2001, pp. 15-19
Authors:
Vincent, JB
Skaug, J
Scherer, SW
Citation: Jb. Vincent et al., The human homologue of flamingo, EGFL2, encodes a brain-expressed large cadherin-like protein with epidermal growth factor-like domains, and maps to chromosome 1p13.3-p21.1, DNA RES, 7(3), 2000, pp. 233-235
Authors:
Smith, AN
Skaug, J
Choate, KA
Nayir, A
Bakkaloglu, A
Ozen, S
Hulton, SA
Sanjad, SA
Al-Sabban, EA
Lifton, RP
Scherer, SW
Karet, FE
Citation: An. Smith et al., Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing, NAT GENET, 26(1), 2000, pp. 71-75
Authors:
Tosi, S
Harbott, J
Teigler-Schlegel, A
Haas, OA
Pirc-Danoewinata, H
Harrison, CJ
Biondi, A
Cazzaniga, G
Kempski, H
Scherer, SW
Kearney, L
Citation: S. Tosi et al., t(7;12)(q36;p13), a new recurrent translocation involving ETV6 in infant leukemia, GENE CHROM, 29(4), 2000, pp. 325-332
Authors:
Auranen, M
Villanova, M
Muntoni, F
Fardeau, M
Scherer, SW
Kalino, H
Minassian, BA
Citation: M. Auranen et al., X-linked vacuolar myopathies: Two separate loci and refined genetic mapping, ANN NEUROL, 47(5), 2000, pp. 666-669
Authors:
Whitmore, TE
Holloway, JL
Lofton-Day, CE
Maurer, MF
Chen, L
Quinton, TJ
Vincent, JB
Scherer, SW
Lok, S
Citation: Te. Whitmore et al., Human secretin (SCT): gene structure, chromosome location, and distribution of mRNA, CYTOG C GEN, 90(1-2), 2000, pp. 47-52
Authors:
Meloche, S
Gopalbhai, K
Beatty, BG
Scherer, SW
Pellerin, J
Citation: S. Meloche et al., Chromosome mapping of the human genes encoding the MAP kinase kinase MEK1 (MAP2K1) to 15q21 and MEK2 (MAP2K2) to 7q32, CYTOG C GEN, 88(3-4), 2000, pp. 249-252
Authors:
Hellman, A
Rahat, A
Scherer, SW
Darvasi, A
Tsui, LP
Kerem, B
Citation: A. Hellman et al., Replication delay along FRA7H, a common fragile site on human chromosome 7, leads to chromosomal instability, MOL CELL B, 20(12), 2000, pp. 4420-4427
Authors:
Grekova, MC
Scherer, SW
Trabb, J
Richert, JR
Citation: Mc. Grekova et al., Localization of the human SP3 gene to chromosome 7p14-p15.2. The lack of expression in multiple sclerosis does not reflect abnormal gene organization, J NEUROIMM, 106(1-2), 2000, pp. 214-219
Authors:
Minassian, BA
Ianzano, L
Meloche, M
Andermann, E
Rouleau, GA
Delgado-Escueta, AV
Scherer, SW
Citation: Ba. Minassian et al., Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy, NEUROLOGY, 55(3), 2000, pp. 341-346
Authors:
Minassian, BA
Ianzano, L
Delgado-Escueta, AV
Scherer, SW
Citation: Ba. Minassian et al., Identification of new and common mutations in the EPM2A gene in Lafora disease, NEUROLOGY, 54(2), 2000, pp. 488-490