Dallapiccola B - Search Results

1

The phenotype of partial dup(7q) reconsidered: a report of five new cases.

Forabosco A, Baroncini A, Dalpra L, Chessa L, Giannotti A, Maccagnani F, Dallapiccola B. Forabosco A, et al. Among authors: dallapiccola b. Clin Genet. 1988 Jul;34(1):48-59. doi: 10.1111/j.1399-0004.1988.tb02615.x. Clin Genet. 1988. PMID: 3409538

2

Deletion 2q31.3----2q33.3: gene dosage effect of ribulose 5-phosphate 3-epimerase.

Dallapiccola B, Novelli G, Giannotti A. Dallapiccola B, et al. Hum Genet. 1988 May;79(1):92. doi: 10.1007/BF00291721. Hum Genet. 1988. PMID: 3366467

3

Congenital cardiac defect in a patient with mosaic 45,X/46,XX,i(21q) karyotype.

Digilio MC, Mingarelli R, Marino B, Giannotti A, Melchionda S, Dallapiccola B. Digilio MC, et al. Among authors: dallapiccola b. Clin Genet. 1994 Sep;46(3):268-70. doi: 10.1111/j.1399-0004.1994.tb04240.x. Clin Genet. 1994. PMID: 7820944

4

Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development.

Digilio MC, Giannotti A, Floridia G, Uccellatore F, Mingarelli R, Danesino C, Dallapiccola B, Zuffardi O. Digilio MC, et al. Among authors: dallapiccola b. J Med Genet. 1994 Mar;31(3):238-41. doi: 10.1136/jmg.31.3.238. J Med Genet. 1994. PMID: 8014974 Free PMC article.

5

Joint dislocation and cerebral anomalies are consistently associated with oral-facial-digital syndrome type IV.

Digilio MC, Giannotti A, Pagnotta G, Mingarelli R, Dallapiccola B. Digilio MC, et al. Among authors: dallapiccola b. Clin Genet. 1995 Sep;48(3):156-9. doi: 10.1111/j.1399-0004.1995.tb04077.x. Clin Genet. 1995. PMID: 8556824 Review.

6

Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome.

Digilio MC, Marino B, Giannotti A, Dallapiccola B. Digilio MC, et al. Among authors: dallapiccola b. J Med Genet. 1997 Nov;34(11):927-9. doi: 10.1136/jmg.34.11.927. J Med Genet. 1997. PMID: 9391888 Free PMC article.

7

Ring 20 chromosome phenotype.

Porfirio B, Valorani MG, Giannotti A, Sabetta G, Dallapiccola B. Porfirio B, et al. Among authors: dallapiccola b. J Med Genet. 1987 Jun;24(6):375-7. doi: 10.1136/jmg.24.6.375. J Med Genet. 1987. PMID: 3612710 Free PMC article.

8

Partial deletion 10p syndrome. Report of two patients.

Obregon MG, Mingarelli R, Giannotti A, di Comite A, Spedicato FS, Dallapiccola B. Obregon MG, et al. Among authors: dallapiccola b. Ann Genet. 1992;35(2):101-4. Ann Genet. 1992. PMID: 1524405

9

Atrioventricular canal associated with trisomy 9.

Marino B, Digilio MC, Giannotti A, Dallapiccola B. Marino B, et al. Among authors: dallapiccola b. Chest. 1989 Dec;96(6):1420-1. doi: 10.1378/chest.96.6.1420. Chest. 1989. PMID: 2582851

10

Interstitial deletion del(17) (q21.3q23 or 24.2) syndrome.

Dallapiccola B, Mingarelli R, Digilio C, Obregon MG, Giannotti A. Dallapiccola B, et al. Clin Genet. 1993 Jan;43(1):54-5. doi: 10.1111/j.1399-0004.1993.tb04452.x. Clin Genet. 1993. PMID: 8462199 No abstract available.

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