Mingarelli R - Search Results

1

Atrioventricular canal and 3C (cranio-cerebello-cardiac) syndrome.

Digilio MC, Marino B, Giannotti A, Mingarelli R, Dallapiccola B. Digilio MC, et al. Among authors: mingarelli r. Am J Med Genet. 1995 Jul 31;58(1):97-8. doi: 10.1002/ajmg.1320580120. Am J Med Genet. 1995. PMID: 7573166 Review. No abstract available.

2

Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): exclusion from the critical region on 8p.

Amati F, Mari A, Mingarelli R, Gennarelli M, Digilio MC, Giannotti A, Marino B, Novelli G, Dallapiccola B. Amati F, et al. Among authors: mingarelli r. Am J Med Genet. 1995 Jul 3;57(3):483-8. doi: 10.1002/ajmg.1320570325. Am J Med Genet. 1995. PMID: 7677156

3

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: mingarelli r. 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.

4

KBG syndrome in a cohort of Italian patients.

Brancati F, D'Avanzo MG, Digilio MC, Sarkozy A, Biondi M, De Brasi D, Mingarelli R, Dallapiccola B. Brancati F, et al. Among authors: mingarelli r. Am J Med Genet A. 2004 Dec 1;131(2):144-9. doi: 10.1002/ajmg.a.30292. Am J Med Genet A. 2004. PMID: 15523620

5

A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability.

Mingarelli R, Zuccarello D, Digilio MC, Dallapiccola B. Mingarelli R, et al. Am J Med Genet A. 2005 Jul 1;136(1):84-6. doi: 10.1002/ajmg.a.30770. Am J Med Genet A. 2005. PMID: 15937946 Review.

6

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: mingarelli r. Clin Genet. 1994 Sep;46(3):268-70. doi: 10.1111/j.1399-0004.1994.tb04240.x. Clin Genet. 1994. PMID: 7820944

7

Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype.

Giannotti A, Digilio MC, Marino B, Mingarelli R, Dallapiccola B. Giannotti A, et al. Among authors: mingarelli r. Am J Med Genet. 1994 Nov 15;53(3):303-4. doi: 10.1002/ajmg.1320530320. Am J Med Genet. 1994. PMID: 7856669 No abstract available.

8

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: mingarelli r. 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.

9

Coarctation of the aorta, interrupted aortic arch, and hypoplastic left heart syndrome in three generations.

Gerboni S, Sabatino G, Mingarelli R, Dallapiccola B. Gerboni S, et al. Among authors: mingarelli r. J Med Genet. 1993 Apr;30(4):328-9. doi: 10.1136/jmg.30.4.328. J Med Genet. 1993. PMID: 8487284 Free PMC article.

10

Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome.

Dallapiccola B, Mingarelli R. Dallapiccola B, et al. Among authors: mingarelli r. J Med Genet. 1995 Oct;32(10):816-8. doi: 10.1136/jmg.32.10.816. J Med Genet. 1995. PMID: 8558563 Free PMC article.

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