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Results: 1-19 |
Results: 19
Prenatal diagnosis of ATR-X syndrome in a fetus with a new G > T splicing mutation in the XNP/ATR-X gene
Authors: Fichera, M Silengo, M Spalletta, A Lo Giudice, M Romano, C Ragusa, A
Citation: M. Fichera et al., Prenatal diagnosis of ATR-X syndrome in a fetus with a new G > T splicing mutation in the XNP/ATR-X gene, PRENAT DIAG, 21(9), 2001, pp. 747-751
Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: Third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies
Authors: Silengo, M Del Monaco, A Linari, A Lala, R
Citation: M. Silengo et al., Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: Third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies, AM J MED G, 101(3), 2001, pp. 275-278
Fontaine-Farriaux craniosynostosis: Second report in the literature
Authors: Priolo, M De Toni, T Baffico, M Cama, A Seri, M Cusano, R Costabello, L Fondelli, P Capra, V Silengo, M Ravazzolo, R Lerone, M
Citation: M. Priolo et al., Fontaine-Farriaux craniosynostosis: Second report in the literature, AM J MED G, 100(3), 2001, pp. 214-218
De novo partial duplication of 3q and distal deletion of 20p in a 15-week abortus with omphalocele
Authors: Cinti, R Botta, G Asnaghi, V Del Monaco, A Salvego, M Silengo, M
Citation: R. Cinti et al., De novo partial duplication of 3q and distal deletion of 20p in a 15-week abortus with omphalocele, FETAL DIAGN, 15(1), 2000, pp. 61-62
Question mark ears, temporo-mandibular joint malformation and hypotonia: auriculo-condylar syndrome or a distinct entity?
Authors: Priolo, M Lerone, M Rosaia, L Calcagno, EP Sadeghi, AK Ghezzi, F Ravazzolo, R Silengo, M
Citation: M. Priolo et al., Question mark ears, temporo-mandibular joint malformation and hypotonia: auriculo-condylar syndrome or a distinct entity?, CLIN DYSMOR, 9(4), 2000, pp. 277-280
Juberg-Hayward syndrome: report of a case with cleft palate, distally placed thumbs and vertebral anomalies
Authors: Silengo, M Tornetta, L
Citation: M. Silengo et L. Tornetta, Juberg-Hayward syndrome: report of a case with cleft palate, distally placed thumbs and vertebral anomalies, CLIN DYSMOR, 9(2), 2000, pp. 127-129
New clinical findings in oculo-ectodermal syndrome
Authors: Silengo, M Lerone, M Seri, M Priolo, M Jarre, L
Citation: M. Silengo et al., New clinical findings in oculo-ectodermal syndrome, CLIN DYSMOR, 9(1), 2000, pp. 39-41
Dandy-Walker complex in a child with Jeune's asphyxiating thoracic dystrophy
Authors: Silengo, M Gianino, P Longo, P Battistoni, G Defilippi, C
Citation: M. Silengo et al., Dandy-Walker complex in a child with Jeune's asphyxiating thoracic dystrophy, PEDIAT RAD, 30(6), 2000, pp. 430-430
Hall-Riggs syndrome: a possible second affected family?
Authors: Silengo, M Rigardetto, R
Citation: M. Silengo et R. Rigardetto, Hall-Riggs syndrome: a possible second affected family?, J MED GENET, 37(11), 2000, pp. 886-889
Ectodermal dysplasias: not only 'skin' deep
Authors: Priolo, M Silengo, M Lerone, M Ravazzolo, R
Citation: M. Priolo et al., Ectodermal dysplasias: not only 'skin' deep, CLIN GENET, 58(6), 2000, pp. 415-430
Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene
Authors: Priolo, M Lerone, M Baffico, M Baldi, M Ravazzolo, R Cama, A Capra, V Silengo, M
Citation: M. Priolo et al., Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene, CLIN GENET, 58(1), 2000, pp. 81-83
Identification of LMX1B gene point mutations in Italian patients affected with Nail-Patella syndrome
Authors: Seri, M Melchionda, S Dreyer, S Marini, M Carella, M Cusano, R Piemontese, MR Caroli, F Silengo, M Zelante, L Romeo, G Ravazzolo, R Gasparini, P Lee, B
Citation: M. Seri et al., Identification of LMX1B gene point mutations in Italian patients affected with Nail-Patella syndrome, INT J MOL M, 4(3), 1999, pp. 285-290
Is there a relationship between extensive mongolian spots and inborn errors of metabolism?
Authors: Silengo, M Battistoni, G Spada, M
Citation: M. Silengo et al., Is there a relationship between extensive mongolian spots and inborn errors of metabolism?, AM J MED G, 87(3), 1999, pp. 276-277
Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?
Authors: Bohring, A Silengo, M Lerone, M Superneau, DW Spaich, C Braddock, SR Poss, A Opitz, JM
Citation: A. Bohring et al., Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?, AM J MED G, 85(5), 1999, pp. 438-446
Goldenhar anomaly in one of triplets derived from in vitro fertilization
Authors: Ferraris, S Silengo, M Ponzone, A Perugini, L
Citation: S. Ferraris et al., Goldenhar anomaly in one of triplets derived from in vitro fertilization, AM J MED G, 84(2), 1999, pp. 167-168
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations
Authors: Basson, CT Huang, TS Lin, RC Bachinsky, DR Weremowicz, S Vaglio, A Bruzzone, R Quadrelli, R Lerone, M Romeo, G Silengo, M Pereira, A Krieger, J Mesquita, SF Kamisago, M Morton, CC Pierpont, MEM Muller, CW Seidman, JG Seidman, CE
Citation: Ct. Basson et al., Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations, P NAS US, 96(6), 1999, pp. 2919-2924
Reply to the letter by De Smet and Fryns. Symbrachydactyly involving both the hand and foot
Authors: Silengo, M Lerone, M Seri, M Boffi, P
Citation: M. Silengo et al., Reply to the letter by De Smet and Fryns. Symbrachydactyly involving both the hand and foot, CLIN GENET, 56(2), 1999, pp. 176-177
Lower extremity counterpart of the Poland syndrome
Authors: Silengo, M Lerone, M Seri, M Boffi, P
Citation: M. Silengo et al., Lower extremity counterpart of the Poland syndrome, CLIN GENET, 55(1), 1999, pp. 41-43
Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
Authors: Seri, M Cusano, R Forabosco, P Cinti, R Caroli, F Picco, P Bini, R Morra, VB De Michele, G Lerone, M Silengo, M Pela, I Borrone, C Romeo, G Devoto, M
Citation: M. Seri et al., Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy, AM J HU GEN, 64(2), 1999, pp. 586-593
Risultati: 1-19 |