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Results: 1-25/32
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:
Tschentscher, F
Prescher, G
Horsman, DE
White, VA
Rieder, H
Anastassiou, G
Schilling, H
Bornfeld, N
Bartz-Schmidt, KU
Horsthemke, B
Lohmann, DR
Zeschnigk, M
Citation: F. Tschentscher et al., Partial deletions of the long and short arm of chromosome 3 point to two tumor suppressor genes in uveal melanoma, CANCER RES, 61(8), 2001, pp. 3439-3442
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:
Ludecke, HJ
Schaper, J
Meinecke, P
Momeni, P
Gross, S
von Holtum, D
Hirche, H
Abramowicz, MJ
Albrecht, B
Apacik, C
Christen, HJ
Claussen, U
Devriendt, K
Fastnacht, E
Forderer, A
Friedrich, U
Goodship, THJ
Greiwe, M
Hamm, H
Hennekam, RCM
Hinkel, GK
Hoeltzenbein, M
Kayserili, H
Majewski, F
Mathieu, M
McLeod, R
Midro, AT
Moog, U
Nagai, T
Niikawa, N
Orstavik, KH
Plochl, E
Seitz, C
Schmidtke, J
Tranebjaerg, L
Tsukahara, M
Wittwer, B
Zabel, B
Gillessen-Kaesbach, G
Horsthemke, B
Citation: Hj. Ludecke et al., Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III, AM J HU GEN, 68(1), 2001, pp. 81-91
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:
Momeni, P
Glockner, G
Schmidt, O
von Holtum, D
Albrecht, B
Gillessen-Kaesbach, G
Hennekam, R
Meinecke, P
Zabel, B
Rosenthal, A
Horsthemke, B
Ludecke, HJ
Citation: P. Momeni et al., Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I, NAT GENET, 24(1), 2000, pp. 71-74
Authors:
Gillessen-Kaesbach, G
Horsthemke, B
Citation: G. Gillessen-kaesbach et B. Horsthemke, Phenotype in patients with Angelman syndrome - Reply, EUR J HUM G, 8(4), 2000, pp. 241-241
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:
Tschentscher, F
Prescher, G
Zeschnigk, M
Horsthemke, B
Lohmann, DR
Citation: F. Tschentscher et al., Identification of chromosomes 3, 6, and 8 aberrations in uveal melanoma bymicrosatellite analysis in comparison to comparative genomic hybridization, CANC GENET, 122(1), 2000, pp. 13-17
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:
Passarge, E
Horsthemke, B
Farber, RA
Citation: E. Passarge et al., Incorrect use of the term synteny, NAT GENET, 23(4), 1999, pp. 387-387
Authors:
Siffert, W
Forster, P
Jockel, KH
Mvere, DA
Brinkmann, B
Naber, C
Crookes, R
Heyns, ADP
Epplen, JT
Fridey, J
Freedman, BI
Muller, N
Stolke, D
Sharma, AM
Al Moutaery, K
Grosse-Wilde, H
Buerbaum, B
Ehrlich, T
Ahmad, HR
Horsthemke, B
Du Toit, ED
Tiilikainen, A
Ge, JB
Wang, YL
Yang, DL
Husing, J
Rosskopf, D
Citation: W. Siffert et al., Worldwide ethnic distribution of the G protein beta 3 subunit 825T allele and its association with obesity in Caucasian, Chinese, and Black African individuals, J AM S NEPH, 10(9), 1999, pp. 1921-1930
Authors:
Gillessen-Kaesbach, G
Demuth, S
Thiele, H
Theile, U
Lich, C
Horsthemke, B
Citation: G. Gillessen-kaesbach et al., A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect, EUR J HUM G, 7(6), 1999, pp. 638-644
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:
Lohmann, DR
Horsthemke, B
Citation: Dr. Lohmann et B. Horsthemke, No association between the presence of a constitutional RB1 gene mutation and age in 68 patients with isolated unilateral retinoblastoma, EUR J CANC, 35(6), 1999, pp. 1035-1036
Authors:
Walkowicz, M
Ji, YG
Ren, XJ
Horsthemke, B
Russell, LB
Johnson, D
Rinchik, EM
Nicholls, RD
Stubbs, L
Citation: M. Walkowicz et al., Molecular characterization of radiation- and chemically induced mutations associated with neuromuscular tremors, runting, juvenile lethality, and sperm defects in jdf2 mice, MAMM GENOME, 10(9), 1999, pp. 870-878
Authors:
Ludecke, HJ
Schmidt, O
Nardmann, J
von Holtum, D
Meinecke, P
Muenke, M
Horsthemke, B
Citation: Hj. Ludecke et al., Genes and chromosomal breakpoints in the Langer-Giedion syndrome region onhuman chromosome 8, HUM GENET, 105(6), 1999, pp. 619-628
Authors:
Schmidt, O
von Holtum, D
Gross, S
Horsthemke, B
Ludecke, HJ
Citation: O. Schmidt et al., The EIF3S3 gene encoding the p40 subunit of the translation initiation factor eIF3 has eight exons and maps to the Langer-Giedion syndrome chromosomeregion on 8q24, but is not the TRPS1 gene, HUM GENET, 105(6), 1999, pp. 662-664
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