Mangino M - Search Results

1

Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism.

Mangino M, Flex E, Digilio MC, Giannotti A, Dallapiccola B. Mangino M, et al. Hum Mutat. 2002 Mar;19(3):308. doi: 10.1002/humu.9016. Hum Mutat. 2002. PMID: 11857750

2

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11.

Salehi LB, Mangino M, De Serio S, De Cicco D, Capon F, Semprini S, Pizzuti A, Novelli G, Dallapiccola B. Salehi LB, et al. Among authors: mangino m. Hum Genet. 2002 Oct;111(4-5):401-4. doi: 10.1007/s00439-002-0785-4. Epub 2002 Aug 21. Hum Genet. 2002. PMID: 12384783

3

NF1 gene analysis based on DHPLC.

De Luca A, Buccino A, Gianni D, Mangino M, Giustini S, Richetta A, Divona L, Calvieri S, Mingarelli R, Dallapiccola B. De Luca A, et al. Among authors: mangino m. Hum Mutat. 2003 Feb;21(2):171-2. doi: 10.1002/humu.9111. Hum Mutat. 2003. PMID: 12552569

4

A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathy.

De Luca A, Torrente I, Mangino M, Bertini E, Dallapiccola B, Novelli G. De Luca A, et al. Among authors: mangino m. Hum Hered. 1999 Jan;49(1):59-60. doi: 10.1159/000022843. Hum Hered. 1999. PMID: 9858861

5

A single-nucleotide polymorphism in the human bone morphogenetic protein-4 (BMP 4) gene.

Mangino M, Torrente I, De Luca A, Sanchez O, Dallapiccola B, Novelli G. Mangino M, et al. J Hum Genet. 1999;44(1):76-7. doi: 10.1007/s100380050113. J Hum Genet. 1999. PMID: 9929985

6

Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22.

Mangino M, Sanchez O, Torrente I, De Luca A, Capon F, Novelli G, Dallapiccola B. Mangino M, et al. Am J Hum Genet. 1999 Aug;65(2):441-7. doi: 10.1086/302505. Am J Hum Genet. 1999. PMID: 10417287 Free PMC article.

7

Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa.

De Luca A, Torrente I, Mangino M, Danesi R, Dallapiccola B, Novelli G. De Luca A, et al. Among authors: mangino m. Mutat Res. 2001 Jan;432(3-4):79-82. doi: 10.1016/s1383-5726(00)00007-8. Mutat Res. 2001. PMID: 11465545

8

Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26.

Mangino M, Flex E, Capon F, Sangiuolo F, Carraro E, Gualandi F, Mazzoli M, Martini A, Novelli G, Dallapiccola B. Mangino M, et al. Eur J Hum Genet. 2001 Sep;9(9):667-71. doi: 10.1038/sj.ejhg.5200707. Eur J Hum Genet. 2001. PMID: 11571554

9

Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12.

Flex E, Mangino M, Mazzoli M, Martini A, Migliosi V, Colosimo A, Mingarelli R, Pizzuti A, Dallapiccola B. Flex E, et al. Among authors: mangino m. J Med Genet. 2003 Apr;40(4):278-81. doi: 10.1136/jmg.40.4.278. J Med Genet. 2003. PMID: 12676899 Free PMC article.

10

A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12-q12.1.

Mangino M, Salpietro DC, Zuccarello D, Gangemi S, Rigoli L, Merlino MV, Briuglia S, Bisignano G, Mingarelli R, Dallapiccola B. Mangino M, et al. Eur J Hum Genet. 2003 Jun;11(6):433-6. doi: 10.1038/sj.ejhg.5200985. Eur J Hum Genet. 2003. PMID: 12774035

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