Silengo M - Search Results

1

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.

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. Seri M, et al. Among authors: silengo m. Am J Hum Genet. 1999 Feb;64(2):586-93. doi: 10.1086/302241. Am J Hum Genet. 1999. PMID: 9973297 Free PMC article.

2

Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome.

Mori PG, Priolo M, Lerone M, Pasino M, Caroli F, Cusano R, Seri M, Silengo MC. Mori PG, et al. Among authors: silengo mc. Am J Med Genet. 1999 Nov 5;87(1):36-9. Am J Med Genet. 1999. PMID: 10528244

3

Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability.

Marini M, Cusano R, De Biasio P, Caroli F, Lerone M, Silengo M, Ravazzolo R, Seri M, Camera G. Marini M, et al. Among authors: silengo m. Am J Med Genet A. 2003 Mar 1;117A(2):112-5. doi: 10.1002/ajmg.a.10163. Am J Med Genet A. 2003. PMID: 12567406

4

Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly: report of a new patient with additional findings.

Silengo M, Lerone M, Romeo G, Calcagno E, Martucciello G, Jasonni V. Silengo M, et al. Am J Med Genet. 1993 Nov 1;47(6):931-3. doi: 10.1002/ajmg.1320470624. Am J Med Genet. 1993. PMID: 8279493

5

Inheritance of Niikawa-Kuroki (Kabuki makeup) syndrome.

Silengo M, Lerone M, Seri M, Romeo G. Silengo M, et al. Am J Med Genet. 1996 Dec 18;66(3):368. doi: 10.1002/(SICI)1096-8628(19961218)66:3<368::AID-AJMG28>3.0.CO;2-J. Am J Med Genet. 1996. PMID: 8985504 No abstract available.

6

Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor.

Seri M, Bolino A, Galietta LJ, Lerone M, Silengo M, Romeo G. Seri M, et al. Among authors: silengo m. Hum Mutat. 1997;9(2):185-7. doi: 10.1002/(SICI)1098-1004(1997)9:2<185::AID-HUMU14>3.0.CO;2-Z. Hum Mutat. 1997. PMID: 9067762 No abstract available.

7

Ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum: variable expression of a single syndrome?

Silengo M, Silvestro L, Capizzi G, Lerone M, Seri M, Rosaia L, Romeo G. Silengo M, et al. J Med Genet. 1998 Feb;35(2):157-8. doi: 10.1136/jmg.35.2.157. J Med Genet. 1998. PMID: 9507398 Free PMC article.

8

Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome.

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. Seri M, et al. Among authors: silengo m. Int J Mol Med. 1999 Sep;4(3):285-90. doi: 10.3892/ijmm.4.3.285. Int J Mol Med. 1999. PMID: 10425280

9

Fontaine-Farriaux craniosynostosis: second report in the literature.

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. Priolo M, et al. Among authors: silengo m. Am J Med Genet. 2001 May 1;100(3):214-8. Am J Med Genet. 2001. PMID: 11343306

10

Congenital diaphragmatic hernia associated with ipsilateral upper limb reduction defects: report of a case with thumb hypoplasia.

Lerone M, Soliani M, Corea D, Romeo G, Martucciello G, Silengo MC. Lerone M, et al. Among authors: silengo mc. Am J Med Genet. 1992 Dec 1;44(6):827-9. doi: 10.1002/ajmg.1320440623. Am J Med Genet. 1992. PMID: 1481856

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