Notarangelo A - Search Results

1

Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions.

Centra M, Memeo E, d'Apolito M, Savino M, Ianzano L, Notarangelo A, Liu J, Doggett NA, Zelante L, Savoia A. Centra M, et al. Among authors: notarangelo a. Genomics. 1998 Aug 1;51(3):463-7. doi: 10.1006/geno.1998.5353. Genomics. 1998. PMID: 9721219

2

Positional cloning of the Fanconi anaemia group A gene.

Fanconi anaemia/Breast cancer consortium. Fanconi anaemia/Breast cancer consortium. Nat Genet. 1996 Nov;14(3):324-8. doi: 10.1038/ng1196-324. Nat Genet. 1996. PMID: 8896564

3

Cytogenetic and molecular analysis of trisomy 9. Case report and review.

Zelante L, Notarangelo A, Croce AI, Piemontese MR, Gasparini P. Zelante L, et al. Among authors: notarangelo a. Ann Genet. 1994;37(1):21-5. Ann Genet. 1994. PMID: 8010708

4

A complex mosaicism 45,X/46,X,del(Xq)/46,X,idic(Xq) in a patient with secondary amenorrhea.

Calvano S, de Cillis GP, Croce AI, Perla G, Notarangelo A, Zelante L. Calvano S, et al. Among authors: notarangelo a. Ann Genet. 2002 Jul-Sep;45(3):137-40. doi: 10.1016/s0003-3995(02)01121-8. Ann Genet. 2002. PMID: 12381444

5

Interstitial "de novo" tandem duplication of 7(q31.1-q35): first reported case.

Zelante L, Croce AI, Grifa A, Notarangelo A, Calvano S. Zelante L, et al. Among authors: notarangelo a. Ann Genet. 2003 Jan-Mar;46(1):49-52. doi: 10.1016/s0003-3995(03)00007-8. Ann Genet. 2003. PMID: 12818530

6

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.

Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P. Melchionda S, et al. Among authors: notarangelo a. Am J Hum Genet. 2001 Sep;69(3):635-40. doi: 10.1086/323156. Epub 2001 Jul 20. Am J Hum Genet. 2001. PMID: 11468689 Free PMC article.

7

The 18ph+ chromosome heteromorphism.

Zelante L, Notarangelo A, Dallapiccola B. Zelante L, et al. Among authors: notarangelo a. Prenat Diagn. 1994 Nov;14(11):1096-7. doi: 10.1002/pd.1970141119. Prenat Diagn. 1994. PMID: 7877960 No abstract available.

8

Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.

Gasparini P, Calonge MJ, Bisceglia L, Purroy J, Dianzani I, Notarangelo A, Rousaud F, Gallucci M, Testar X, Ponzone A, et al. Gasparini P, et al. Among authors: notarangelo a. Am J Hum Genet. 1995 Oct;57(4):781-8. Am J Hum Genet. 1995. PMID: 7573036 Free PMC article.

9

Ring chromosome 21 in healthy persons: different consequences in females and in males.

Dallapiccola B, De Filippis V, Notarangelo A, Perla G, Zelante L. Dallapiccola B, et al. Among authors: notarangelo a. Hum Genet. 1986 Jul;73(3):218-20. doi: 10.1007/BF00401230. Hum Genet. 1986. PMID: 3733078

10

Sedlin controls the ER export of procollagen by regulating the Sar1 cycle.

Venditti R, Scanu T, Santoro M, Di Tullio G, Spaar A, Gaibisso R, Beznoussenko GV, Mironov AA, Mironov A Jr, Zelante L, Piemontese MR, Notarangelo A, Malhotra V, Vertel BM, Wilson C, De Matteis MA. Venditti R, et al. Among authors: notarangelo a. Science. 2012 Sep 28;337(6102):1668-72. doi: 10.1126/science.1224947. Science. 2012. PMID: 23019651 Free PMC article.

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