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Results: 1-11 |
Results: 11
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
Ectodermal dysplasias: a new clinical-genetic classification
Authors: Priolo, M Lagana, C
Citation: M. Priolo et C. Lagana, Ectodermal dysplasias: a new clinical-genetic classification, J MED GENET, 38(9), 2001, pp. 579-585
Total anonychia congenita in a woman with normal intelligence: Report of afurther case
Authors: Priolo, M Rosaia, L Seri, M Silengo, MC Ravazzolo, R Lerone, M
Citation: M. Priolo et al., Total anonychia congenita in a woman with normal intelligence: Report of afurther case, DERMATOLOGY, 200(1), 2000, pp. 84-85
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
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
Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation
Authors: De Biasio, P Prefumo, F Baffico, M Baldi, M Priolo, M Lerone, M Toma, P Venturini, PL
Citation: P. De Biasio et al., Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation, PRENAT DIAG, 20(10), 2000, pp. 835-837
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
Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndromeand anorectal malformations with sacral hypodevelopment
Authors: Seri, M Martucciello, G Paleari, L Bolino, A Priolo, M Salemi, G Forabosco, P Caroli, F Cusano, R Tocco, T Lerone, M Cama, A Torre, M Guys, JM Romeo, G Jasonni, V
Citation: M. Seri et al., Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndromeand anorectal malformations with sacral hypodevelopment, HUM GENET, 104(1), 1999, pp. 108-110
Congenital hypoplastic anaemia in a patient with a new multiple congenitalanomalies-mental retardation syndrome
Authors: Mori, PG Priolo, M Lerone, M Caroli, F Cusano, R Seri, M Silengo, MC
Citation: Pg. Mori et al., Congenital hypoplastic anaemia in a patient with a new multiple congenitalanomalies-mental retardation syndrome, AM J MED G, 87(1), 1999, pp. 36-39
Double heterozygosity for a RET substitution interfering with splicing andan EDNRB missense mutation in Hirschsprung disease
Authors: Auricchio, A Griseri, P Carpentieri, ML Betsos, N Staiano, A Tozzi, A Priolo, M Thompson, H Bocciardi, R Romeo, G Ballabio, A Ceccherini, I
Citation: A. Auricchio et al., Double heterozygosity for a RET substitution interfering with splicing andan EDNRB missense mutation in Hirschsprung disease, AM J HU GEN, 64(4), 1999, pp. 1216-1221
Risultati: 1-11 |