Zelante L - Search Results

1

Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome.

Seri M, Melchionda S, Dreyer S, Marini M, Carella M, Cusano R, Piemontese MR, Caroli F, Silengo M, Zelante L, Romeo G, Ravazzolo R, Gasparini P, Lee B. Seri M, et al. Among authors: zelante l. Int J Mol Med. 1999 Sep;4(3):285-90. doi: 10.3892/ijmm.4.3.285. Int J Mol Med. 1999. PMID: 10425280

2

Linkage analysis in two large Italian pedigrees affected with nail patella syndrome.

Melchionda S, Seri M, Carella M, Piemontese MR, Zhang XX, Zelante L, Romeo G, Gasparini P. Melchionda S, et al. Among authors: zelante l. Eur J Hum Genet. 1998 Jul-Aug;6(4):345-9. doi: 10.1038/sj.ejhg.5200191. Eur J Hum Genet. 1998. PMID: 9781042

3

Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms.

Gasparini P, D'Agruma L, Pio de Cillis G, Balestrazzi P, Mingarelli R, Zelante L. Gasparini P, et al. Among authors: zelante l. Hum Genet. 1996 Apr;97(4):492-5. doi: 10.1007/BF02267073. Hum Genet. 1996. PMID: 8834249

4

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.

Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Milá M, Monica MD, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P. Zelante L, et al. Hum Mol Genet. 1997 Sep;6(9):1605-9. doi: 10.1093/hmg/6.9.1605. Hum Mol Genet. 1997. PMID: 9285800

5

Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene.

Bisceglia L, d'Ambrosio L, Piemontese MR, Carella M, Amati P, Bonneau D, Pilia G, Gasparini P, Zelante L. Bisceglia L, et al. Among authors: zelante l. Mol Cell Probes. 1998 Aug;12(4):255-8. doi: 10.1006/mcpr.1998.0171. Mol Cell Probes. 1998. PMID: 9727204 No abstract available.

6

Homozygosity for a novel splice site mutation (2790-2 A--->G) preceding exon 15 of the CFTR gene in a cystic fibrosis patient of North-East Italian descent.

Marigo C, Bombieri C, Bisceglia L, Zelante L, Gasparini P, Pignatti PF. Marigo C, et al. Among authors: zelante l. Mol Cell Probes. 1995 Apr;9(2):139-41. doi: 10.1016/s0890-8508(95)80039-5. Mol Cell Probes. 1995. PMID: 7541511

7

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.

Seri M, Savino M, Bordo D, Cusano R, Rocca B, Meloni I, Di Bari F, Koivisto PA, Bolognesi M, Ghiggeri GM, Landolfi R, Balduini CL, Zelante L, Ravazzolo R, Renieri A, Savoia A. Seri M, et al. Among authors: zelante l. Hum Genet. 2002 Feb;110(2):182-6. doi: 10.1007/s00439-001-0659-1. Epub 2001 Dec 14. Hum Genet. 2002. PMID: 11935325

8

Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant.

Grifa A, Piemontese MR, Melchionda S, Origone P, Zelante L, Coviello D, Fratta G, Dallapiccola B, Balestrazzi P, Ajmar F, et al. Grifa A, et al. Among authors: zelante l. Clin Genet. 1995 Jun;47(6):281-4. doi: 10.1111/j.1399-0004.1995.tb03965.x. Clin Genet. 1995. PMID: 7554359

9

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. Ann Genet. 1994;37(1):21-5. Ann Genet. 1994. PMID: 8010708

10

GABA (gamma-amino-butyric acid) neurotransmission: identification and fine mapping of the human GABAB receptor gene.

Grifa A, Totaro A, Rommens JM, Carella M, Roetto A, Borgato L, Zelante L, Gasparini P. Grifa A, et al. Among authors: zelante l. Biochem Biophys Res Commun. 1998 Sep 18;250(2):240-5. doi: 10.1006/bbrc.1998.9296. Biochem Biophys Res Commun. 1998. PMID: 9753614

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