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Results:
1-17
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Results: 17
Authors:
Kaufmann, D
Tinschert, S
Algermissen, B
Citation: D. Kaufmann et al., Is the distribution of dermal neurofibromas in neurofibromatosis type 1 (NF1) related to the pattern of the skin surface temperature?, EUR J DERM, 11(6), 2001, pp. 521-526
Authors:
Nurnberg, P
Thiele, H
Chandler, D
Hohne, W
Cunningham, ML
Ritter, H
Leschik, G
Uhlmann, K
Mischung, C
Harrop, K
Goldblatt, J
Borochowitz, ZU
Kotzot, D
Westermann, F
Mundlos, S
Braun, HS
Laing, N
Tinschert, S
Citation: P. Nurnberg et al., Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia, NAT GENET, 28(1), 2001, pp. 37-41
Authors:
Chandler, D
Tinschert, S
Lohan, K
Harrop, K
Goldblatt, J
Nagy, M
Hummel, S
Braun, HS
Laing, N
Nurnberg, P
Citation: D. Chandler et al., Refinement of the chromosome 5p locus for craniometaphyseal dysplasia, HUM GENET, 108(5), 2001, pp. 394-397
Authors:
Nieschlag, A
Tinschert, S
Citation: A. Nieschlag et S. Tinschert, In memoriam - Maik Urban - 1966-2000, AM J MED G, 104(2), 2001, pp. 110-111
Authors:
Braun, HS
Nurnberg, P
Tinschert, S
Citation: Hs. Braun et al., Metaphyseal dysplasia: A new autosomal dominant type in a large German kindred, AM J MED G, 101(1), 2001, pp. 74-77
Authors:
Jenne, DE
Tinschert, S
Reimann, H
Lasinger, W
Thiel, G
Hameister, H
Kehrer-Sawatzki, H
Citation: De. Jenne et al., Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions, AM J HU GEN, 69(3), 2001, pp. 516-527
Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene
Authors:
Tinschert, S
Naumann, I
Stegmann, E
Buske, A
Kaufmann, D
Thiel, G
Jenne, DE
Citation: S. Tinschert et al., Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene, EUR J HUM G, 8(6), 2000, pp. 455-459
Authors:
Jenne, DE
Tinschert, S
Stegmann, E
Reimann, H
Nurnberg, P
Horn, D
Naumann, I
Buske, A
Thiel, G
Citation: De. Jenne et al., A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions, GENOMICS, 66(1), 2000, pp. 93-97
Authors:
Toliat, MR
Erdogan, F
Gewies, A
Fahsold, R
Buske, A
Tinschert, S
Nurnberg, P
Citation: Mr. Toliat et al., Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b, ELECTROPHOR, 21(3), 2000, pp. 541-544
Authors:
Knoblauch, H
Thiel, G
Tinschert, S
Korner, H
Tennstedt, C
Chaoui, R
Kohlhase, J
Dixkens, C
Blanck, C
Citation: H. Knoblauch et al., Clinical and molecular cytogenetic studies of a large de novo interstitialdeletion 16q11.2-16q21 including the putative transcription factor gene SALL1, J MED GENET, 37(5), 2000, pp. 389-392
Authors:
Schwabe, GC
Tinschert, S
Buschow, C
Meinecke, P
Wolff, G
Gillessen-Kaesbach, G
Oldridge, M
Wilkie, AOM
Komec, R
Mundlos, S
Citation: Gc. Schwabe et al., Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B, AM J HU GEN, 67(4), 2000, pp. 822-831
Authors:
Fahsold, R
Hoffmeyer, S
Mischung, C
Gille, C
Ehlers, C
Kucukceylan, N
Abdel-Nour, M
Gewies, A
Peters, H
Kaufmann, D
Buske, A
Tinschert, S
Nurnberg, P
Citation: R. Fahsold et al., Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the CAP-related domain, AM J HU GEN, 66(3), 2000, pp. 790-818
Authors:
Knoblauch, H
Sommer, D
Zimmer, C
Tennstedt, C
Heling, K
Bollmann, R
Bommer, C
Tinschert, S
Korner, H
Citation: H. Knoblauch et al., Fetal trisomy 10 mosaicism: Ultrasound, cytogenetic and morphologic findings in early pregnancy, PRENAT DIAG, 19(4), 1999, pp. 379-382
Authors:
Buske, A
Gewies, A
Lehmann, R
Ruther, K
Algermissen, B
Nurnberg, P
Tinschert, S
Citation: A. Buske et al., Recurrent NF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1), AM J MED G, 86(4), 1999, pp. 328-330
Authors:
Tinschert, S
Gerl, H
Gewies, A
Jung, HP
Nurnberg, P
Citation: S. Tinschert et al., McCune-Albright syndrome: Clinical and molecular evidence of mosaicism in an unusual giant patient, AM J MED G, 83(2), 1999, pp. 100-108
Authors:
Klose, A
Peters, H
Hoffmeyer, S
Buske, A
Luder, A
Hess, D
Lehmann, R
Nurnberg, P
Tinschert, S
Citation: A. Klose et al., Two independent mutations in a family with neurofibromatosis type 1 (NF1), AM J MED G, 83(1), 1999, pp. 6-12
Authors:
Gottschalk, S
Tavakolian, R
Buske, A
Tinschert, S
Lehmann, R
Citation: S. Gottschalk et al., Spontaneous remission of chiasmatic/hypothalamic masses in neurofibromatosis type 1: report of two cases, NEURORADIOL, 41(3), 1999, pp. 199-201
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1-17
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