Della Monica M - 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: della monica m. 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: della monica m. Prenat Diagn. 1994 Jun;14(6):502-5. doi: 10.1002/pd.1970140616. Prenat Diagn. 1994. PMID: 7937589

3

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. Among authors: della monica m. 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

4

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: della monica m. Birth Defects Orig Artic Ser. 1996;30(1):379-95. Birth Defects Orig Artic Ser. 1996. PMID: 9125343 No abstract available.

5

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. Among authors: della monica m. Birth Defects Orig Artic Ser. 1996;30(1):95-101. Birth Defects Orig Artic Ser. 1996. PMID: 9125350 No abstract available.

6

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: della monica m. Eur J Hum Genet. 1999 May-Jun;7(4):421-6. doi: 10.1038/sj.ejhg.5200333. Eur J Hum Genet. 1999. PMID: 10352932

7

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: della monica m. 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

8

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: della monica m. 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

9

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: della monica m. 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

10

Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature.

Nazzaro A, Della Monica M, Lonardo F, Di Blasi A, Baffico M, Baldi M, Nazzaro G, De Placido G, Scarano G. Nazzaro A, et al. Among authors: della monica m. Prenat Diagn. 2004 Nov;24(11):918-22. doi: 10.1002/pd.844. Prenat Diagn. 2004. PMID: 15565658 Review.

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