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Results: 1-23 |
Results: 23
Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15
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
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations
Authors: Witsch-Raumgartner, M Ciara, E Loffler, J Menzel, HJ Seedorf, U Burn, J Gillessen-Kaesbach, G Hoffmann, GF Fitzy, BU Mundy, H Clayton, P Kelley, RI Krajewska-Walasek, M Utermann, G
Citation: M. Witsch-raumgartner et al., Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations, EUR J HUM G, 9(1), 2001, pp. 45-50
Adiposity indices in German children and adolescents with genetically confirmed Prader-Willi syndrome (PWS)
Authors: Hauffa, BP Schlippe, G Gillessen-Kaesbach, G
Citation: Bp. Hauffa et al., Adiposity indices in German children and adolescents with genetically confirmed Prader-Willi syndrome (PWS), INT J OBES, 25, 2001, pp. S22-S25
Girl with phenotypic abnormalities and a de novo, apparently balanced translocation 46,XX,t(5;10)(q35.2q11.2)
Authors: Zhu, G Gillessen-Kaesbach, G Wirth, J Passarge, E Bartsch, O
Citation: G. Zhu et al., Girl with phenotypic abnormalities and a de novo, apparently balanced translocation 46,XX,t(5;10)(q35.2q11.2), AM J MED G, 98(4), 2001, pp. 317-319
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III
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
Adult patients with Prader-Willi syndrome: clinical characteristics, life circumstances and growth hormone secretion
Authors: Partsch, CJ Lammer, C Gillessen-Kaesbach, G Pankau, R
Citation: Cj. Partsch et al., Adult patients with Prader-Willi syndrome: clinical characteristics, life circumstances and growth hormone secretion, GROWTH H I, 10, 2000, pp. 81-85
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I
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
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion
Authors: Wieczorek, D Krause, M Majewski, F Albrecht, B Horn, D Riess, O Gillessen-Kaesbach, G
Citation: D. Wieczorek et al., Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion, EUR J HUM G, 8(7), 2000, pp. 519-526
Phenotype in patients with Angelman syndrome - Reply
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
Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome
Authors: Schwartz, CE Gillessen-Kaesbach, G May, M Cappa, M Gorski, J Steindl, K Neri, G
Citation: Ce. Schwartz et al., Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome, EUR J HUM G, 8(11), 2000, pp. 869-874
Multiple subcutaneous granular-cell tumours in a patient with Noonan syndrome
Authors: Lohmann, DR Gillessen-Kaesbach, G
Citation: Dr. Lohmann et G. Gillessen-kaesbach, Multiple subcutaneous granular-cell tumours in a patient with Noonan syndrome, CLIN DYSMOR, 9(4), 2000, pp. 301-302
Spontaneous growth in German children and adolescents with genetically confirmed Prader-Willi syndrome
Authors: Hauffa, BP Schlippe, G Roos, M Gillessen-Kaesbach, G Gasser, T
Citation: Bp. Hauffa et al., Spontaneous growth in German children and adolescents with genetically confirmed Prader-Willi syndrome, ACT PAEDIAT, 89(11), 2000, pp. 1302-1311
Variability in the phenotypic expression of Fryns syndrome: A report of two sibships
Authors: Ramsing, M Gillessen-Kaesbach, G Holzgreve, W Fritz, B Rehder, H
Citation: M. Ramsing et al., Variability in the phenotypic expression of Fryns syndrome: A report of two sibships, AM J MED G, 95(5), 2000, pp. 415-424
Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: Specific entity or variant of a described condition?
Authors: Gohlich-Ratmann, G Lackner, A Schaper, J Voit, T Gillessen-Kaesbach, G
Citation: G. Gohlich-ratmann et al., Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: Specific entity or variant of a described condition?, AM J MED G, 95(3), 2000, pp. 241-246
Trisomy 13 with bilateral hand oligodactyly
Authors: Kuschel, B Gillessen-Kaesbach, G
Citation: B. Kuschel et G. Gillessen-kaesbach, Trisomy 13 with bilateral hand oligodactyly, AM J MED G, 90(1), 2000, pp. 87-88
Unexpected high frequency of de novo unbalanced translocations in patientswith Wolf-Hirschhorn syndrome (WHS)
Authors: Wieczorek, D Krause, M Majewski, F Albrecht, B Meinecke, P Riess, O Gillessen-Kaesbach, G
Citation: D. Wieczorek et al., Unexpected high frequency of de novo unbalanced translocations in patientswith Wolf-Hirschhorn syndrome (WHS), J MED GENET, 37(10), 2000, pp. 798-804
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B
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
Mutational spectrum in the Delta 7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome
Authors: Witsch-Baumgartner, M Fitzky, BU Ogorelkova, M Kraft, HG Moebius, FF Glossmann, H Seedorf, U Gillessen-Kaesbach, G Hoffmann, GF Clayton, P Kelley, RI Utermann, G
Citation: M. Witsch-baumgartner et al., Mutational spectrum in the Delta 7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome, AM J HU GEN, 66(2), 2000, pp. 402-412
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
Authors: Wallis, DE Roessler, E Hehr, U Nanni, L Wiltshire, T Richieri-Costa, A Gillessen-Kaesbach, G Zackai, EH Rommens, J Muenke, M
Citation: De. Wallis et al., Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly, NAT GENET, 22(2), 1999, pp. 196-198
A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect
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
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactylysyndrome
Authors: Kalff-Suske, M Wild, A Topp, J Wessling, M Jacobsen, EM Bornholdt, D Engel, H Heuer, H Aalfs, CM Ausems, MGEM Barone, R Herzog, A Heutink, P Homfray, T Gillessen-Kaesbach, G Konig, R Kunze, J Meinecke, P Muller, D Rizzo, R Strenge, S Superti-Furga, A Grzeschik, KH
Citation: M. Kalff-suske et al., Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactylysyndrome, HUM MOL GEN, 8(9), 1999, pp. 1769-1777
Aplasia cutis congenita - etiological relationship to antiphospholipid syndrome?
Authors: Roll, C Hanssler, L Voit, T Gillessen-Kaesbach, G
Citation: C. Roll et al., Aplasia cutis congenita - etiological relationship to antiphospholipid syndrome?, CLIN DYSMOR, 8(3), 1999, pp. 215-217
Pediatric neurology on the threshold of a new millenium
Authors: Voit, T Abe, T Antunes, NL Aso, K Beck, M Becker, LE Berthet, F Bourgeois, B Braddick, O Cioni, G Cowan, F DiFazio, MP DiMauro, S Dodge, N Enders, G Forsting, N Frahm, J Futagi, Y Gabreels-Festen, A Gartner, J Gillessen-Kaesbach, G Golden, J Greisen, G Guichenai, P Hagberg, B Heinen, F Hohlfeld, R Holmes, GL Inoue, Y Iwamoto, H Jaeken, J Kaufmann, W Kimura, H Kohyama, J Korinthenberg, R Kramer, H Kreth, W Krivit, W Logan, W Lorenz, B Lou, H Martin, JJ Matshushima, Y Munnich, A Naidu, S Neubauer, W Oguni, H Oka, E Osawa, M Panayiotopoulos, CP Partridge, T Raemaekers, V Rapin, I Reis, A Rivkin, M Roll, C Rosenbaum, T Ross, E Rotteveel, J Schroder, JM Seitz, R Soul, J Steinlein, O Stephani, U Tanaka, J Taylor, G Tome, F Topcu, N Tuxhorn, I Urlesberger, B Wahn, V Wenk, G Wilichowski, E Wraith, JE Wynshaw-Boris, A
Citation: T. Voit et al., Pediatric neurology on the threshold of a new millenium, NEUROPEDIAT, 30(6), 1999, pp. 277-277
Risultati: 1-23 |