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Results: 1-25/31
Authors:
Francke, U
Citation: U. Francke, Human genetics around the world, GENET MED, 3(3), 2001, pp. 167-167
Authors:
Fulmer-Smentek, SB
Francke, U
Citation: Sb. Fulmer-smentek et U. Francke, Association of acetylated histones with paternally expressed genes in the Prader-Willi deletion region, HUM MOL GEN, 10(6), 2001, pp. 645-652
Authors:
Wan, MM
Zhao, KJ
Lee, SSJ
Francke, U
Citation: Mm. Wan et al., MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome, HUM MOL GEN, 10(10), 2001, pp. 1085-1092
Authors:
Van Raay, TJ
Wang, YK
Stark, MR
Rasmussen, JT
Francke, U
Vetter, ML
Rao, MS
Citation: Tj. Van Raay et al., frizzled 9 is expressed in neural precursor cells in the developing neuraltube, DEV GENES E, 211(8-9), 2001, pp. 453-457
Authors:
Kaplan, P
Wang, PP
Francke, U
Citation: P. Kaplan et al., Williams (Williams Beuren) syndrome: A distinct neurobehavioral disorder, J CHILD NEU, 16(3), 2001, pp. 177-190
Authors:
Kerr, AM
Nomura, Y
Armstrong, D
Anvret, M
Belichenko, PV
Budden, S
Cass, H
Christodoulou, J
Clarke, A
Ellaway, C
d'Esposito, M
Francke, U
Hulten, M
Julu, P
Leonard, H
Naidu, S
Schanen, C
Webb, T
Engerstrom, IW
Yamashita, Y
Segawa, M
Citation: Am. Kerr et al., Guidelines for reporting clinical features in cases with MECP2 mutations, BRAIN DEVEL, 23(4), 2001, pp. 208-211
Authors:
Graef, IA
Gastier, JM
Francke, U
Crabtree, GR
Citation: Ia. Graef et al., Evolutionary relationships among Rel domains indicate functional diversification by recombination, P NAS US, 98(10), 2001, pp. 5740-5745
Authors:
Gastier, JM
Berg, MA
Vesterhus, P
Reiter, EO
Francke, U
Citation: Jm. Gastier et al., Diverse deletions in the growth hormone receptor gene cause growth hormoneinsensitivity syndrome, HUM MUTAT, 16(4), 2000, pp. 323-333
Authors:
Huang, MM
Tsuboi, S
Wong, A
Yu, XJ
Oh-Eda, M
Derry, JM
Francke, U
Fukuda, M
Weinberg, KI
Kohn, DB
Citation: Mm. Huang et al., Expression of human Wiskott-Aldrich syndrome protein in patients' cells leads to partial correction of a phenotypic abnormality of cell surface glycoproteins, GENE THER, 7(4), 2000, pp. 314-320
Authors:
Ferguson, PJ
Blanton, SH
Saulsbury, FT
McDuffie, MJ
Lemahieu, V
Gastier, JM
Francke, U
Borowitz, SM
Sutphen, JL
Kelly, TE
Citation: Pj. Ferguson et al., Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome, AM J MED G, 90(5), 2000, pp. 390-397
Authors:
de los Santos, T
Schweizer, J
Rees, CA
Francke, U
Citation: T. De Los Santos et al., Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which is highly expressed in brain, AM J HU GEN, 67(5), 2000, pp. 1067-1082
Authors:
Francke, U
Citation: U. Francke, My year as 1999 ASHG President, AM J HU GEN, 66(4), 2000, pp. 1187-1189
Authors:
Peoples, R
Franke, Y
Wang, YK
Perez-Jurado, L
Paperna, T
Cisco, M
Francke, U
Citation: R. Peoples et al., A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome-deletion region at 7q11.23, AM J HU GEN, 66(1), 2000, pp. 47-68
Authors:
Amir, RE
Van den Veyver, IB
Wan, M
Tran, CQ
Francke, U
Zoghbi, HY
Citation: Re. Amir et al., Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2, NAT GENET, 23(2), 1999, pp. 185-188
Authors:
Lemahieu, V
Gastier, JM
Francke, U
Citation: V. Lemahieu et al., Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes, HUM MUTAT, 14(1), 1999, pp. 54-66
Authors:
Schweizer, J
Zynger, D
Francke, U
Citation: J. Schweizer et al., In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit, HUM MOL GEN, 8(4), 1999, pp. 555-566
Authors:
Francke, U
Citation: U. Francke, Williams-Beuren syndrome: genes and mechanisms, HUM MOL GEN, 8(10), 1999, pp. 1947-1954
Authors:
Wang, YK
Sporle, R
Paperna, T
Schughart, K
Francke, U
Citation: Yk. Wang et al., Characterization and expression pattern of the frizzled gene Fzd9, the mouse homolog of FZD9 which is deleted in Williams-Beuren syndrome, GENOMICS, 57(2), 1999, pp. 235-248
Authors:
Ring, HZ
Vameghi-Meyers, V
Nikolic, JM
Min, HS
Black, DL
Francke, U
Citation: Hz. Ring et al., Mapping of the KHSRP gene to a region of conserved synteny on human chromosome 19p13.3 and mouse chromosome 17, GENOMICS, 56(3), 1999, pp. 350-352
Authors:
Ring, HZ
Vameghi-Meyers, V
Min, HS
Nikolic, JM
Black, DL
Francke, U
Citation: Hz. Ring et al., The mouse Fubp gene maps near the distal end of chromosome 3, GENOMICS, 56(3), 1999, pp. 357-358
Authors:
Ring, HZ
Chang, H
Guilbot, A
Brice, A
LeGuern, E
Francke, U
Citation: Hz. Ring et al., The human neuregulin-2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie Tooth disease linked to 5q, HUM GENET, 104(4), 1999, pp. 326-332
Authors:
Jurado, LAP
Wang, YK
Francke, U
Cruces, J
Citation: Lap. Jurado et al., TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog, CYTOG C GEN, 86(3-4), 1999, pp. 277-284
Authors:
Franke, Y
Peoples, RJ
Francke, U
Citation: Y. Franke et al., Identification of GTF2IRD 1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23, CYTOG C GEN, 86(3-4), 1999, pp. 296-304
Authors:
Rosenbloom, AL
Guevara-Aguirre, J
Rosenfeld, RG
Francke, U
Citation: Al. Rosenbloom et al., Commentary - Growth hormone receptor deficiency in Ecuador, J CLIN END, 84(12), 1999, pp. 4436-4443
Authors:
Wan, MM
Lee, SSJ
Zhang, XY
Houwink-Manville, I
Song, HR
Amir, RE
Budden, S
Naidu, S
Pereira, JLP
Lo, IFM
Zoghbi, HY
Schanen, NC
Francke, U
Citation: Mm. Wan et al., Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots, AM J HU GEN, 65(6), 1999, pp. 1520-1529