Mingarelli R - Search Results

1

Brancati F, Mingarelli R, Dallapiccola B. Brancati F, et al. Among authors: mingarelli r. Eur J Hum Genet. 2003 Dec;11(12):972-4. doi: 10.1038/sj.ejhg.5201076. Eur J Hum Genet. 2003. PMID: 14508508

2

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene.

Conti E, Grifone N, Sarkozy A, Tandoi C, Marino B, Digilio MC, Mingarelli R, Pizzuti A, Dallapiccola B. Conti E, et al. Among authors: mingarelli r. Eur J Hum Genet. 2003 Apr;11(4):349-51. doi: 10.1038/sj.ejhg.5200956. Eur J Hum Genet. 2003. PMID: 12700609

3

Ablepharon-macrostomia syndrome in a 46-year-old woman.

Brancati F, Mingarelli R, Sarkozy A, Dallapiccola B. Brancati F, et al. Among authors: mingarelli r. Am J Med Genet A. 2004 May 15;127A(1):96-98. doi: 10.1002/ajmg.a.20658. Am J Med Genet A. 2004. PMID: 15103726

4

A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.

Sarkozy A, Obregon MG, Conti E, Esposito G, Mingarelli R, Pizzuti A, Dallapiccola B. Sarkozy A, et al. Among authors: mingarelli r. Eur J Hum Genet. 2004 Dec;12(12):1069-72. doi: 10.1038/sj.ejhg.5201290. Eur J Hum Genet. 2004. PMID: 15470362

5

KBG syndrome in a cohort of Italian patients.

Brancati F, D'Avanzo MG, Digilio MC, Sarkozy A, Biondi M, De Brasi D, Mingarelli R, Dallapiccola B. Brancati F, et al. Among authors: mingarelli r. Am J Med Genet A. 2004 Dec 1;131(2):144-9. doi: 10.1002/ajmg.a.30292. Am J Med Genet A. 2004. PMID: 15523620

6

Genetic testing in Italy, year 2004.

Dallapiccola B, Torrente I, Morena A, Dagna-Bricarelli F, Mingarelli R. Dallapiccola B, et al. Among authors: mingarelli r. Eur J Hum Genet. 2006 Aug;14(8):911-6. doi: 10.1038/sj.ejhg.5201653. Epub 2006 May 24. Eur J Hum Genet. 2006. PMID: 16724000

7

Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS).

Castori M, Brancati F, Rinaldi R, Adami L, Mingarelli R, Grammatico P, Dallapiccola B. Castori M, et al. Among authors: mingarelli r. Am J Med Genet A. 2006 Jul 15;140(14):1573-9. doi: 10.1002/ajmg.a.31290. Am J Med Genet A. 2006. PMID: 16761296 Review.

8

A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B.

Castori M, Brancati F, Mingarelli R, Mundlos S, Dallapiccola B. Castori M, et al. Among authors: mingarelli r. Am J Med Genet A. 2007 Jan 15;143A(2):195-9. doi: 10.1002/ajmg.a.31433. Am J Med Genet A. 2007. PMID: 17163524

9

Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome.

Brancati F, Garaci FG, Mingarelli R, Dallapiccola B. Brancati F, et al. Among authors: mingarelli r. Am J Med Genet A. 2008 Jun 15;146A(12):1622-3. doi: 10.1002/ajmg.a.32357. Am J Med Genet A. 2008. PMID: 18478598 No abstract available.

10

A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors.

Dentici ML, Brancati F, Mingarelli R, Dallapiccola B. Dentici ML, et al. Among authors: mingarelli r. Eur J Med Genet. 2009 Nov-Dec;52(6):421-5. doi: 10.1016/j.ejmg.2009.09.008. Epub 2009 Oct 1. Eur J Med Genet. 2009. PMID: 19800039

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