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Results: 1-13 |
Results: 13
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations
Authors: Rossi, E Piccini, F Zollino, M Neri, G Caselli, D Tenconi, R Castellan, C Carrozzo, R Danesino, C Zuffardi, O Ragusa, A Castiglia, L Galesi, O Greco, D Romano, C Pierluigi, M Perfumo, C Di Rocco, M Faravelli, F Bricarelli, FD Bonaglia, M Bedeschi, M Borgatti, R
Citation: E. Rossi et al., Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations, J MED GENET, 38(6), 2001, pp. 417-420
Novel keratin 17 mutations in pachyonychia congenita type 2
Authors: Smith, FJD Coleman, CM Bayoumy, NM Tenconi, R Nelson, J David, A McLean, WHI
Citation: Fjd. Smith et al., Novel keratin 17 mutations in pachyonychia congenita type 2, J INVES DER, 116(5), 2001, pp. 806-808
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
Authors: van Bokhoven, H Hamel, BCJ Bamshad, M Sangiorgi, E Gurrieri, F Duijf, PHG Vanmolkot, KRJ van Beusekom, E van Beersum, SEC Celli, J Merkx, GFM Tenconi, R Fryns, JP Verloes, A Newbury-Ecob, RA Raas-Rotschild, A Majewski, F Beemer, FA Janecke, A Chitayat, D Crisponi, G Kayserili, H Yates, JRW Neri, G Brunner, HG
Citation: H. Van Bokhoven et al., p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation, AM J HU GEN, 69(3), 2001, pp. 481-492
Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe
Authors: Boyd, PA Wellesley, DG De Walle, HEK Tenconi, R Garcia-Minaur, S Zandwijken, GRJ Stoll, C Clementi, M
Citation: Pa. Boyd et al., Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe, J MED SCREE, 7(4), 2000, pp. 169-174
Evaluation of prenatal diagnosis of cleft lip with or without cleft palateand cleft palate by ultrasound: experience from 20 European registries
Authors: Clementi, M Tenconi, R Bianchi, F Stoll, C
Citation: M. Clementi et al., Evaluation of prenatal diagnosis of cleft lip with or without cleft palateand cleft palate by ultrasound: experience from 20 European registries, PRENAT DIAG, 20(11), 2000, pp. 870-875
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome
Authors: Zollino, M Di Stefano, C Zampino, G Mastroiacovo, P Wright, TJ Sorge, G Selicorni, A Tenconi, R Zappala, A Battaglia, A Di Rocco, M Palka, G Pallotta, R Altherr, MR Neri, G
Citation: M. Zollino et al., Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome, AM J MED G, 94(3), 2000, pp. 254-261
Reply to the letter to the editor by Szudek et al.-"Growth charts for young children with neurofibromatosis 1 (NF1)"
Authors: Clementi, M Tenconi, R
Citation: M. Clementi et R. Tenconi, Reply to the letter to the editor by Szudek et al.-"Growth charts for young children with neurofibromatosis 1 (NF1)", AM J MED G, 92(3), 2000, pp. 228-228
NF1 microdeletion syndrome: Refined FISH characterization of sporadic and familial deletions with locus-specific probes
Authors: Riva, P Corrado, L Natacci, F Castorina, P Wu, BL Schneider, GH Clementi, M Tenconi, R Korf, BR Larizza, L
Citation: P. Riva et al., NF1 microdeletion syndrome: Refined FISH characterization of sporadic and familial deletions with locus-specific probes, AM J HU GEN, 66(1), 2000, pp. 100-109
CD4 and CD8 T lymphocyte inheritance. Evidence for major autosomal recessive genes
Authors: Clementi, M Forabosco, P Amadori, A Zamarchi, R De Silvestro, G Di Gianantonio, E Chieco-Bianchi, L Tenconi, R
Citation: M. Clementi et al., CD4 and CD8 T lymphocyte inheritance. Evidence for major autosomal recessive genes, HUM GENET, 105(4), 1999, pp. 337-342
Fibroblast growth factor receptor mutational screening in newborns affected by metopic synostosis
Authors: Tartaglia, M Bordoni, V Velardi, F Basile, RT Saulle, E Tenconi, R Di Rocco, C Battaglia, PA
Citation: M. Tartaglia et al., Fibroblast growth factor receptor mutational screening in newborns affected by metopic synostosis, CHILD NERV, 15(8), 1999, pp. 389-393
Neurofibromatosis type 1 growth charts
Authors: Clementi, M Milani, S Mammi, I Boni, S Monciotti, C Tenconi, R
Citation: M. Clementi et al., Neurofibromatosis type 1 growth charts, AM J MED G, 87(4), 1999, pp. 317-323
Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1
Authors: Stevenson, DA Birch, PH Friedman, JM Viskochil, DH Balestrazzi, P Boni, S Buske, A Korf, BR Niimura, M Pivnick, EK Schorry, EK Short, MP Tenconi, R Tonsgard, JH Carey, JC
Citation: Da. Stevenson et al., Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1, AM J MED G, 84(5), 1999, pp. 413-419
Methimazole embryopathy: Delineation of the phenotype
Authors: Clementi, M Di Gianantonio, E Pelo, E Mammi, I Basile, RT Tenconi, R
Citation: M. Clementi et al., Methimazole embryopathy: Delineation of the phenotype, AM J MED G, 83(1), 1999, pp. 43-46
Risultati: 1-13 |