Dallapiccola B - Search Results

1

PPP1R21-related syndromic intellectual disability: Report of an adult patient and review.

Loddo S, Alesi V, Radio FC, Genovese S, Di Tommaso S, Calvieri G, Orlando V, Bertini E, Dentici ML, Novelli A, Dallapiccola B. Loddo S, et al. Among authors: dallapiccola b. Am J Med Genet A. 2020 Dec;182(12):3014-3022. doi: 10.1002/ajmg.a.61889. Epub 2020 Sep 27. Am J Med Genet A. 2020. PMID: 32985083 Review.

2

Baller-Gerold syndrome: case report and clinical and radiological review.

Dallapiccola B, Zelante L, Mingarelli R, Pellegrino M, Bertozzi V. Dallapiccola B, et al. Am J Med Genet. 1992 Feb 1;42(3):365-8. doi: 10.1002/ajmg.1320420323. Am J Med Genet. 1992. PMID: 1536180 Review.

3

Jeune syndrome associated with cystinuria: report of two sisters.

Rinaldi S, Dionisi-Vici C, Goffredo B, Dallapiccola B, Rizzoni G. Rinaldi S, et al. Among authors: dallapiccola b. Am J Med Genet. 1990 Nov;37(3):301-3. doi: 10.1002/ajmg.1320370302. Am J Med Genet. 1990. PMID: 2260554

4

An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).

Giannotti A, Digilio MC, Mingarelli R, Dallapiccola B. Giannotti A, et al. Among authors: dallapiccola b. J Med Genet. 1995 Jan;32(1):72-4. doi: 10.1136/jmg.32.1.72. J Med Genet. 1995. PMID: 7897634 Free PMC article.

5

Progeroid syndrome with characteristic facial appearance and hand anomalies in father and son.

Giannotti A, Digilio MC, Mingarelli R, Marino B, Dallapiccola B. Giannotti A, et al. Among authors: dallapiccola b. Am J Med Genet. 1997 Dec 12;73(2):227-9. doi: 10.1002/(sici)1096-8628(19971212)73:2<227::aid-ajmg21>3.0.co;2-r. Am J Med Genet. 1997. PMID: 9409877

6

Intrafamilial variability of Pfeiffer-type cardiocranial syndrome.

Digilio MC, Marino B, Borzaga U, Giannotti A, Dallapiccola B. Digilio MC, et al. Among authors: dallapiccola b. Am J Med Genet. 1997 Dec 31;73(4):480-3. Am J Med Genet. 1997. PMID: 9415478 Review.

7

Noonan syndrome and aortic coarctation.

Digilio MC, Marino B, Picchio F, Prandstraller D, Toscano A, Giannotti A, Dallapiccola B. Digilio MC, et al. Among authors: dallapiccola b. Am J Med Genet. 1998 Nov 2;80(2):160-2. Am J Med Genet. 1998. PMID: 9805134

8

Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes.

Botta A, Novelli G, Mari A, Novelli A, Sabani M, Korenberg J, Osborne LR, Digilio MC, Giannotti A, Dallapiccola B. Botta A, et al. Among authors: dallapiccola b. J Med Genet. 1999 Jun;36(6):478-80. J Med Genet. 1999. PMID: 10874638 Free PMC article.

9

Congenital heart defects in Kabuki syndrome.

Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B. Digilio MC, et al. Among authors: dallapiccola b. Am J Med Genet. 2001 May 15;100(4):269-74. doi: 10.1002/ajmg.1265. Am J Med Genet. 2001. PMID: 11343317 Review.

10

Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34.

Valente EM, Brancati F, Caputo V, Bertini E, Patrono C, Costanti D, Dallapiccola B. Valente EM, et al. Among authors: dallapiccola b. Ann Neurol. 2002 Jun;51(6):681-5. doi: 10.1002/ana.10204. Ann Neurol. 2002. PMID: 12112072

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