Peissel B - Search Results

1

A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5.

Peissel B, Rossetti S, Renieri A, Galli L, De Marchi M, Battini G, Meroni M, Sessa A, Schiavano S, Pignatti PF, et al. Peissel B, et al. Hum Mutat. 1994;3(4):386-90. doi: 10.1002/humu.1380030410. Hum Mutat. 1994. PMID: 8081393 No abstract available.

2

Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome.

Renieri A, Galli L, De Marchi M, Li Volti S, Mollica F, Lupo A, Maschio G, Peissel B, Rossetti S, Pignatti P, et al. Renieri A, et al. Among authors: peissel b. Hum Mol Genet. 1994 Jan;3(1):201-2. doi: 10.1093/hmg/3.1.201. Hum Mol Genet. 1994. PMID: 8162029 No abstract available.

3

Rapid DNA-based prenatal diagnosis of autosomal dominant polycystic kidney disease.

Turco AE, Peissel B, Rossetti S, Pignatti PF. Turco AE, et al. Among authors: peissel b. Arch Pediatr Adolesc Med. 1994 Oct;148(10):1101-2. doi: 10.1001/archpedi.1994.02170100099020. Arch Pediatr Adolesc Med. 1994. PMID: 7921104 No abstract available.

4

Gene linkage analysis and DNA based detection of autosomal dominant polycystic kidney disease (ADPKD) in a newborn infant. Case report.

Turco AE, Padovani EM, Peissel B, Chiaffoni GP, Rossetti S, Gammaro L, Maschio G, Pignatti PF. Turco AE, et al. Among authors: peissel b. J Perinat Med. 1995;23(3):205-12. doi: 10.1515/jpme.1995.23.3.205. J Perinat Med. 1995. PMID: 8568612

5

Clinical applications of genetic linkage analysis for the molecular diagnostics of ADPKD, using DNA markers linked to the PKD1 and PKD2 genes.

Turco AE, Rossetti S, Peissel B, Gammaro L, Maschio G, Pignatti PF. Turco AE, et al. Among authors: peissel b. Contrib Nephrol. 1995;115:88-92. doi: 10.1159/000424400. Contrib Nephrol. 1995. PMID: 8585924 No abstract available.

6

LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis.

Segal Y, Peissel B, Renieri A, de Marchi M, Ballabio A, Pei Y, Zhou J. Segal Y, et al. Among authors: peissel b. Am J Hum Genet. 1999 Jan;64(1):62-9. doi: 10.1086/302213. Am J Hum Genet. 1999. PMID: 9915944 Free PMC article.

7

Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformations.

Turco AE, Padovani EM, Chiaffoni GP, Peissel B, Rossetti S, Marcolongo A, Gammaro L, Maschio G, Pignatti PF. Turco AE, et al. Among authors: peissel b. J Med Genet. 1993 May;30(5):419-22. doi: 10.1136/jmg.30.5.419. J Med Genet. 1993. PMID: 8320707 Free PMC article.

8

Prenatal diagnosis of autosomal dominant polycystic kidney disease using flanking DNA markers and the polymerase chain reaction.

Turco A, Peissel B, Quaia P, Morandi R, Bovicelli L, Pignatti PF. Turco A, et al. Among authors: peissel b. Prenat Diagn. 1992 Jun;12(6):513-24. doi: 10.1002/pd.1970120606. Prenat Diagn. 1992. PMID: 1355292

9

Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families.

Turco A, Peissel B, Gammaro L, Maschio G, Pignatti PF. Turco A, et al. Among authors: peissel b. Clin Genet. 1991 Oct;40(4):287-97. doi: 10.1111/j.1399-0004.1991.tb03098.x. Clin Genet. 1991. PMID: 1684535

10

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations.

Sampieri K, Hadjistilianou T, Mari F, Speciale C, Mencarelli MA, Cetta F, Manoukian S, Peissel B, Giachino D, Pasini B, Acquaviva A, Caporossi A, Frezzotti R, Renieri A, Bruttini M. Sampieri K, et al. Among authors: peissel b. J Hum Genet. 2006;51(3):209-216. doi: 10.1007/s10038-005-0348-3. Epub 2006 Feb 4. J Hum Genet. 2006. PMID: 16463005

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