Scarano G - Search Results

1

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.

Acquaviva F, Sana ME, Della Monica M, Pinelli M, Postorivo D, Fontana P, Falco MT, Nardone AM, Lonardo F, Iascone M, Scarano G. Acquaviva F, et al. Among authors: scarano g. Am J Med Genet A. 2017 Jan;173(1):231-238. doi: 10.1002/ajmg.a.37989. Epub 2016 Sep 28. Am J Med Genet A. 2017. PMID: 27683195 Review.

2

Prenatal diagnosis of femur-fibula-ulna complex by ultrasonography in a male fetus at 24 weeks of gestation.

Capece G, Fasolino A, Della Monica M, Lonardo F, Scarano G, Neri G. Capece G, et al. Among authors: scarano g. Prenat Diagn. 1994 Jun;14(6):502-5. doi: 10.1002/pd.1970140616. Prenat Diagn. 1994. PMID: 7937589

3

Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta.

Mottes M, Gomez Lira MM, Valli M, Scarano G, Lonardo F, Forlino A, Cetta G, Pignatti PF. Mottes M, et al. Among authors: scarano g. Hum Mutat. 1993;2(3):196-204. doi: 10.1002/humu.1380020308. Hum Mutat. 1993. PMID: 8364588

4

Novel findings in a patient with Weaver or a Weaver-like syndrome.

Scarano G, Della Monica M, Lonardo F, Neri G. Scarano G, et al. Am J Med Genet. 1996 May 17;63(2):378-81. doi: 10.1002/(SICI)1096-8628(19960517)63:2<378::AID-AJMG10>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8725789

5

Malformation syndromes with kidney dysplasia.

Genuardi M, Scarano G, Tozzi C, Chinca M, Della Monica M, Martini-Neri ME, Picardi P, Neri G. Genuardi M, et al. Among authors: scarano g. Birth Defects Orig Artic Ser. 1996;30(1):379-95. Birth Defects Orig Artic Ser. 1996. PMID: 9125343 No abstract available.

6

A case of short-rib syndrome without polydactyly in a stillborn: a new type?

Scarano G, Della Monica M, Capece G, Lonardo F, Neri G, Maroteaux P. Scarano G, et al. Birth Defects Orig Artic Ser. 1996;30(1):95-101. Birth Defects Orig Artic Ser. 1996. PMID: 9125350 No abstract available.

7

Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies.

Genuardi M, Tozzi C, Pomponi MG, Stagni ML, Della Monica M, Scarano G, Calvieri F, Torrisi L, Neri G. Genuardi M, et al. Among authors: scarano g. Eur J Hum Genet. 1999 May-Jun;7(4):421-6. doi: 10.1038/sj.ejhg.5200333. Eur J Hum Genet. 1999. PMID: 10352932

8

Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26).

Giardino D, Finelli P, Gottardi G, De Canal G, Della Monica M, Lonardo F, Scarano G, Larizza L. Giardino D, et al. Among authors: scarano g. Am J Med Genet A. 2003 Oct 15;122A(3):261-5. doi: 10.1002/ajmg.a.20287. Am J Med Genet A. 2003. PMID: 12966529

9

A family with X-linked recessive fusion of metacarpals IV and V.

Lonardo F, Della Monica M, Riccardi G, Riccio I, Riccio V, Scarano G. Lonardo F, et al. Among authors: scarano g. Am J Med Genet A. 2004 Feb 1;124A(4):407-10. doi: 10.1002/ajmg.a.20382. Am J Med Genet A. 2004. PMID: 14735591

10

Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome.

Gurrieri F, Scarano G, Garavelli L, Della Monica M, Lonardo F, Cuda D, Banchini G, Opitz JM, Neri G. Gurrieri F, et al. Among authors: scarano g. Am J Med Genet A. 2004 Apr 15;126A(2):204-7. doi: 10.1002/ajmg.a.20575. Am J Med Genet A. 2004. PMID: 15057987

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