Lonardo F - Search Results

1

Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review.

Romano F, Falco M, Cappuccio G, Brunetti-Pierri N, Lonardo F, Torella A, Digilio MC, Dentici ML, Alfieri P, Agolini E, Novelli A, Garavelli L, Accogli A; TUDP; Striano P, Scarano G, Nigro V, Scala M, Capra V. Romano F, et al. Among authors: lonardo f. Birth Defects Res. 2022 Aug 1;114(13):759-767. doi: 10.1002/bdr2.2058. Epub 2022 Jun 18. Birth Defects Res. 2022. PMID: 35716097 Free PMC article. Review.

2

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: lonardo f. 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

3

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: lonardo f. Birth Defects Orig Artic Ser. 1996;30(1):95-101. Birth Defects Orig Artic Ser. 1996. PMID: 9125350 No abstract available.

4

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: lonardo f. 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

5

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. 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

6

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: lonardo f. 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

7

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: lonardo f. Prenat Diagn. 2004 Nov;24(11):918-22. doi: 10.1002/pd.844. Prenat Diagn. 2004. PMID: 15565658 Review.

8

Prenatal ultrasound diagnosis of cloacal exstrophy associated with myelocystocele complex by the 'elephant trunk-like' image and review of the literature.

Della Monica M, Nazzaro A, Lonardo F, Ferrara G, Di Blasi A, Scarano G. Della Monica M, et al. Among authors: lonardo f. Prenat Diagn. 2005 May;25(5):394-7. doi: 10.1002/pd.1146. Prenat Diagn. 2005. PMID: 15909284

9

A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene.

Teresa E, Lonardo F, Fiumara A, Lombardi C, Russo P, Zuppi C, Scarano G, Musumeci S, Gianfrancesco F. Teresa E, et al. Among authors: lonardo f. Mol Genet Metab. 2006 Jun;88(2):192-5. doi: 10.1016/j.ymgme.2006.02.014. Epub 2006 Apr 4. Mol Genet Metab. 2006. PMID: 16600650

10

Al-Awadi/Raas-Rothschild syndrome: two new cases and review.

Lonardo F, Sabba G, Luquetti DV, Monica MD, Scarano G. Lonardo F, et al. Am J Med Genet A. 2007 Dec 15;143A(24):3169-74. doi: 10.1002/ajmg.a.31712. Am J Med Genet A. 2007. PMID: 17431918

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