Tenconi R - Search Results

1

The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.

Schinzel A, Schmid W, Fraccaro M, Tiepolo L, Zuffardi O, Opitz JM, Lindsten J, Zetterqvist P, Enell H, Baccichetti C, Tenconi R, Pagon RA. Schinzel A, et al. Among authors: tenconi r. Hum Genet. 1981;57(2):148-58. doi: 10.1007/BF00282012. Hum Genet. 1981. PMID: 6785205

2

A new case of trisomy for the short arm of No. 9 chromosome.

Baccichetti C, Tenconi R. Baccichetti C, et al. Among authors: tenconi r. J Med Genet. 1973 Sep;10(3):296-9. doi: 10.1136/jmg.10.3.296. J Med Genet. 1973. PMID: 4774540 Free PMC article.

3

Ring chromosome 21 in phenotypically apparently normal persons: report of two families from Switzerland and Italy.

Schmid W, Tenconi R, Baccichetti C, Caufin D, Schinzel A. Schmid W, et al. Among authors: tenconi r. Am J Med Genet. 1983 Nov;16(3):323-9. doi: 10.1002/ajmg.1320160305. Am J Med Genet. 1983. PMID: 6228144

4

Syndrome +12p. Case report and review.

Tenconi R, Piovan E, Preto A, Magnabosco R, Baccichetti C. Tenconi R, et al. Hum Genet. 1977 Nov 2;39(1):97-101. doi: 10.1007/BF00273157. Hum Genet. 1977. PMID: 924448

5

Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study.

Simoni G, Fraccaro M, Arslanian A, Bacchetta M, Baccichetti C, Bignone FA, Cagiano A, Carbonara AO, Carozzi F, Cuoco C, Bricarelli FD, Dallapiccola B, Dalprà L, Carbone LD, Ferranti G, Filippi G, Frateschi M, Gimelli G, Gualtieri RM, Lenzini E, Micara G, Migone N, Montacuti V, Neri G, Papa R, Pecile V, Rocchi M, Savin E, Serra A, Tenconi R, Terzoli GL, Tibiletti MG. Simoni G, et al. Among authors: tenconi r. Hum Genet. 1982;60(1):63-8. doi: 10.1007/BF00281266. Hum Genet. 1982. PMID: 7076250

6

Study on segregation of the inversion of chromosome 4 (p15.2q11) in two unrelated families.

Baccichetti C, Tenconi R, Caufin D, Bortotto L. Baccichetti C, et al. Among authors: tenconi r. Hum Genet. 1982;62(2):117-20. doi: 10.1007/BF00282297. Hum Genet. 1982. PMID: 7160843 No abstract available.

7

Study on segregation and risk for abnormal offspring in carriers of pericentric inversion of the (p11 leads to q13) segment of chromosome 2.

Baccichetti C, Lenzini E, Peserico A, Tenconi R. Baccichetti C, et al. Among authors: tenconi r. Clin Genet. 1980 Dec;18(6):402-7. doi: 10.1111/j.1399-0004.1980.tb01783.x. Clin Genet. 1980. PMID: 7449177

8

Trisomy 4q32 leads to 4qter due to a maternal 4/21 translocation.

Baccichetti C, Tenconi R, Anglani F, Zacchello F. Baccichetti C, et al. Among authors: tenconi r. J Med Genet. 1975 Dec;12(4):425-7. doi: 10.1136/jmg.12.4.425. J Med Genet. 1975. PMID: 1219127 Free PMC article.

9

Frequency of abnormal karyotypes in relation to the ascertainment method in females referred for suspected sex chromosome abnormality.

Anglani F, Baccichetti C, Artifoni L, Lenzini E, Tenconi R. Anglani F, et al. Among authors: tenconi r. Clin Genet. 1984 Mar;25(3):242-7. doi: 10.1111/j.1399-0004.1984.tb01984.x. Clin Genet. 1984. PMID: 6705256

10

A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype.

Bonaglia MC, Giorda R, Tenconi R, Pessina M, Pramparo T, Borgatti R, Zuffardi O. Bonaglia MC, et al. Among authors: tenconi r. Eur J Hum Genet. 2005 May;13(5):586-91. doi: 10.1038/sj.ejhg.5201369. Eur J Hum Genet. 2005. PMID: 15657611

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