Calzolari E - Search Results

1

Hydrocephalus, skeletal anomalies, and mental disturbances in a mother and three daughters: a new syndrome.

Ferlini A, Ragno M, Gobbi P, Marinucci C, Rossi R, Zanetti A, Milan M, Camera G, Calzolari E. Ferlini A, et al. Among authors: calzolari e. Am J Med Genet. 1995 Dec 4;59(4):506-11. doi: 10.1002/ajmg.1320590419. Am J Med Genet. 1995. PMID: 8585573

2

Are omphalocele and neural tube defects related congenital anomalies?: Data from 21 registries in Europe (EUROCAT).

Calzolari E, Bianchi F, Dolk H, Stone D, Milan M. Calzolari E, et al. Am J Med Genet. 1997 Oct 3;72(1):79-84. Am J Med Genet. 1997. PMID: 9295081

3

Omphalocele and gastroschisis in Europe: a survey of 3 million births 1980-1990. EUROCAT Working Group.

Calzolari E, Bianchi F, Dolk H, Milan M. Calzolari E, et al. Am J Med Genet. 1995 Aug 28;58(2):187-94. doi: 10.1002/ajmg.1320580218. Am J Med Genet. 1995. PMID: 8533813

4

Limb reduction defects in Emilia Romagna, Italy: epidemiological and genetic study in 173,109 consecutive births.

Calzolari E, Manservigi D, Garani GP, Cocchi G, Magnani C, Milan M. Calzolari E, et al. J Med Genet. 1990 Jun;27(6):353-7. doi: 10.1136/jmg.27.6.353. J Med Genet. 1990. PMID: 2359096 Free PMC article.

5

Characterization of a deleted Y chromosome in a male with Turner stigmata.

Calzolari E, Patracchini P, Palazzi P, Aiello V, Ferlini A, Trasforini G, degli Uberti E, Bernardi F. Calzolari E, et al. Clin Genet. 1993 Jan;43(1):16-22. doi: 10.1111/j.1399-0004.1993.tb04419.x. Clin Genet. 1993. PMID: 8462191

6

Inheritance of cleft palate in Italy. Evidence for a major autosomal recessive locus.

Clementi M, Tenconi R, Forabosco P, Calzolari E, Milan M. Clementi M, et al. Among authors: calzolari e. Hum Genet. 1997 Aug;100(2):204-9. doi: 10.1007/s004390050491. Hum Genet. 1997. PMID: 9254850

7

Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation.

Rimessi P, Gualandi F, Duprez L, Spitali P, Neri M, Merlini L, Calzolari E, Muntoni F, Ferlini A. Rimessi P, et al. Among authors: calzolari e. Am J Med Genet A. 2005 Feb 1;132A(4):391-4. doi: 10.1002/ajmg.a.30513. Am J Med Genet A. 2005. PMID: 15641026

8

Exploring the clinical and epidemiological complexity of GJB2-linked deafness.

Gualandi F, Ravani A, Berto A, Sensi A, Trabanelli C, Falciano F, Trevisi P, Mazzoli M, Tibiletti MG, Cristofari E, Burdo S, Ferlini A, Martini A, Calzolari E. Gualandi F, et al. Among authors: calzolari e. Am J Med Genet. 2002 Sep 15;112(1):38-45. doi: 10.1002/ajmg.10621. Am J Med Genet. 2002. PMID: 12239718

9

Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion.

Gualandi F, Trabanelli C, Rimessi P, Calzolari E, Toffolatti L, Patarnello T, Kunz G, Muntoni F, Ferlini A. Gualandi F, et al. Among authors: calzolari e. J Med Genet. 2003 Aug;40(8):e100. doi: 10.1136/jmg.40.8.e100. J Med Genet. 2003. PMID: 12920092 Free PMC article. No abstract available.

10

Familial occurrence of multiple pterygium syndrome: expression in a heterozygote of the recessive form or variability of the dominant form?

Prontera P, Sensi A, Merlo L, Garani G, Cocchi G, Calzolari E. Prontera P, et al. Among authors: calzolari e. Am J Med Genet A. 2006 Oct 15;140(20):2227-30. doi: 10.1002/ajmg.a.31428. Am J Med Genet A. 2006. PMID: 16964621

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