Calzolari E - Search Results

1

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.

Maestrini E, Korge BP, Ocaña-Sierra J, Calzolari E, Cambiaghi S, Scudder PM, Hovnanian A, Monaco AP, Munro CS. Maestrini E, et al. Among authors: calzolari e. Hum Mol Genet. 1999 Jul;8(7):1237-43. doi: 10.1093/hmg/8.7.1237. Hum Mol Genet. 1999. PMID: 10369869

2

Vohwinkel syndrome (mutilating keratoderma) associated with craniofacial anomalies.

Sensi A, Bettoli V, Zampino MR, Gandini E, Calzolari E. Sensi A, et al. Among authors: calzolari e. Am J Med Genet. 1994 Apr 1;50(2):201-3. doi: 10.1002/ajmg.1320500212. Am J Med Genet. 1994. PMID: 8010352

3

Progress in understanding GJB2-linked deafness.

Gualandi F, Martini A, Calzolari E. Gualandi F, et al. Among authors: calzolari e. Community Genet. 2003;6(3):125-32. doi: 10.1159/000078156. Community Genet. 2003. PMID: 15237196 Review.

4

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

5

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

Vacca M, Filippini F, Budillon A, Rossi V, Mercadante G, Manzati E, Gualandi F, Bigoni S, Trabanelli C, Pini G, Calzolari E, Ferlini A, Meloni I, Hayek G, Zappella M, Renieri A, D'Urso M, D'Esposito M, MacDonald F, Kerr A, Dhanjal S, Hultén M. Vacca M, et al. Among authors: calzolari e. J Mol Med (Berl). 2001;78(11):648-55. doi: 10.1007/s001090000155. J Mol Med (Berl). 2001. PMID: 11269512

6

Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy.

Boyd PA, Loane M, Garne E, Khoshnood B, Dolk H; EUROCAT working group. Boyd PA, et al. Eur J Hum Genet. 2011 Feb;19(2):231-4. doi: 10.1038/ejhg.2010.148. Epub 2010 Aug 25. Eur J Hum Genet. 2011. PMID: 20736977 Free PMC article.

7

Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.

Marlin S, Blanchard S, Slim R, Lacombe D, Denoyelle F, Alessandri JL, Calzolari E, Drouin-Garraud V, Ferraz FG, Fourmaintraux A, Philip N, Toublanc JE, Petit C. Marlin S, et al. Among authors: calzolari e. Hum Mutat. 1999;14(5):377-86. doi: 10.1002/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A. Hum Mutat. 1999. PMID: 10533063

8

Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe.

Wellesley D, Dolk H, Boyd PA, Greenlees R, Haeusler M, Nelen V, Garne E, Khoshnood B, Doray B, Rissmann A, Mullaney C, Calzolari E, Bakker M, Salvador J, Addor MC, Draper E, Rankin J, Tucker D. Wellesley D, et al. Among authors: calzolari e. Eur J Hum Genet. 2012 May;20(5):521-6. doi: 10.1038/ejhg.2011.246. Epub 2012 Jan 11. Eur J Hum Genet. 2012. PMID: 22234154 Free PMC article.

9

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

10

De novo complex autosomal translocation involving chromosomes 8, 13 and 15 in a girl with a sporadic retinoblastoma.

Calzolari E, Palazzi P, Aiello V, Mazzeo E, Perri P, Minelli A, del Senno L, Patracchini P, Bernardi F. Calzolari E, et al. Hum Genet. 1987 Sep;77(1):51-4. doi: 10.1007/BF00284713. Hum Genet. 1987. PMID: 3502696

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