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Results:
1-19
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Results: 19
Authors:
El-Maarri, O
Buiting, K
Peery, EG
Kroisel, PM
Balaban, B
Wagner, K
Urman, B
Heyd, J
Lich, C
Brannan, CI
Walter, J
Horsthemke, B
Citation: O. El-maarri et al., Maternal methylation imprints on human chromosome 15 are established during or after fertilization, NAT GENET, 27(3), 2001, pp. 341-344
Authors:
Runte, M
Farber, C
Lich, C
Zeschnigk, M
Buchholz, T
Smith, A
Van Maldergem, L
Burger, J
Muscatelli, F
Gillessen-Kaesbach, G
Horsthemke, B
Buiting, K
Citation: M. Runte et al., Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15, EUR J HUM G, 9(7), 2001, pp. 519-526
Authors:
Wirth, J
Back, E
Huttenhofer, A
Nothwang, HG
Lich, C
Gross, S
Menzel, C
Schinzel, A
Kioschis, P
Tommerup, N
Ropers, HH
Horsthemke, B
Buiting, K
Citation: J. Wirth et al., A translocation breakpoint cluster disrupts the newly defined 3 ' end of the SNURF-SNRPN transcription unit on chromosome 15, HUM MOL GEN, 10(3), 2001, pp. 201-210
Authors:
Runte, M
Huttenhofer, A
Gross, S
Kiefmann, M
Horsthemke, B
Buiting, K
Citation: M. Runte et al., The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A, HUM MOL GEN, 10(23), 2001, pp. 2687-2700
Authors:
Herzog, S
Lohmann, DR
Buiting, K
Schuler, A
Horsthemke, B
Rehder, H
Rieder, H
Citation: S. Herzog et al., Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization, HUM GENET, 108(2), 2001, pp. 98-104
Authors:
Buiting, K
Barnicoat, A
Lich, C
Pembrey, M
Malcolm, S
Horsthemke, B
Citation: K. Buiting et al., Disruption of the bipartite imprinting center in a family with Angelman syndrome, AM J HU GEN, 68(5), 2001, pp. 1290-1294
Authors:
Silverstein, S
Lerer, I
Buiting, K
Abeliovich, D
Citation: S. Silverstein et al., The 28-kb deletion spanning D15S63 is a polymorphic variant in the Ashkenazi Jewish population, AM J HU GEN, 68(1), 2001, pp. 261-263
Authors:
Shemer, R
Hershko, AY
Perk, J
Mostoslavsky, R
Tsuberi, B
Cedar, H
Buiting, K
Razin, A
Citation: R. Shemer et al., The imprinting box of the Prader-Willi/Angelman syndrome domain, NAT GENET, 26(4), 2000, pp. 440-443
Authors:
Bielinska, B
Blaydes, SM
Buiting, K
Yang, T
Krajewska-Walasek, M
Horsthemke, B
Brannan, CI
Citation: B. Bielinska et al., De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch, NAT GENET, 25(1), 2000, pp. 74-78
Authors:
Farber, C
Gross, S
Neesen, J
Buiting, K
Horsthemke, B
Citation: C. Farber et al., Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15, GENOMICS, 65(2), 2000, pp. 174-183
Authors:
Cavaille, J
Buiting, K
Kiefmann, M
Lalande, M
Brannan, CI
Horsthemke, B
Bachellerie, JP
Brosius, J
Huttenhofer, A
Citation: J. Cavaille et al., Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization, P NAS US, 97(26), 2000, pp. 14311-14316
Authors:
Buiting, K
Farber, C
Kroisel, P
Wagner, K
Brueton, L
Robertson, ME
Lich, C
Horsthemke, B
Citation: K. Buiting et al., Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counselling, CLIN GENET, 58(4), 2000, pp. 284-290
Authors:
Ji, YG
Walkowicz, MJ
Buiting, K
Johnson, DK
Tarvin, RE
Rinchik, EM
Horsthemke, B
Stubbs, L
Nicholls, RD
Citation: Yg. Ji et al., The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities, HUM MOL GEN, 8(3), 1999, pp. 533-542
Authors:
Farber, C
Dittrich, B
Buiting, K
Horsthemke, B
Citation: C. Farber et al., The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion, HUM MOL GEN, 8(2), 1999, pp. 337-343
Authors:
Buiting, K
Lich, C
Cottrell, S
Barnicoat, A
Horsthemke, B
Citation: K. Buiting et al., A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp, HUM GENET, 105(6), 1999, pp. 665-666
Authors:
Buiting, K
Korner, C
Ulrich, B
Wahle, E
Horsthemke, B
Citation: K. Buiting et al., The human gene for the poly(A)-specific ribonuclease (PARN) maps to 16p13 and has a truncated copy in the Prader-Willi/Angelman syndrome region on 15q11 -> q13, CYTOG C GEN, 87(1-2), 1999, pp. 125-131
Authors:
Buiting, K
Dittrich, B
Dworniczak, B
Lerer, I
Abeliovich, D
Cottrell, S
Temple, IK
Harvey, JF
Lich, C
Gross, S
Horsthemke, B
Citation: K. Buiting et al., A 28-kb deletion spanning D15S63 (PW71) in five families: A rare neutral variant?, AM J HU GEN, 65(6), 1999, pp. 1588-1594
Authors:
Ohta, T
Buiting, K
Kokkonen, H
McCandless, S
Heeger, S
Leisti, H
Driscoll, DJ
Cassidy, SB
Horsthemke, B
Nicholls, RD
Citation: T. Ohta et al., Molecular mechanism of Angelman syndrome in two large families involves animprinting mutation, AM J HU GEN, 64(2), 1999, pp. 385-396
Authors:
Ohta, T
Gray, TA
Rogan, PK
Buiting, K
Gabriel, JM
Saitoh, S
Muralidhar, B
Bilienska, B
Krajewska-Walasek, M
Driscoll, DJ
Horsthemke, B
Butler, MG
Nicholls, RD
Citation: T. Ohta et al., Imprinting-mutation mechanisms in Prader-Willi syndrome, AM J HU GEN, 64(2), 1999, pp. 397-413
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