Guala A - Search Results

1

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.

Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch AB, Morton CC, Axon PR, Akil I, Al-Sabban EA, Baguley DM, Bianca S, Bakkaloglu A, Bircan Z, Chauveau D, Clermont MJ, Guala A, Hulton SA, Kroes H, Li Volti G, Mir S, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad SA, Tasic V, Taylor CM, Topaloglu R, Smith AN, Karet FE. Stover EH, et al. Among authors: guala a. J Med Genet. 2002 Nov;39(11):796-803. doi: 10.1136/jmg.39.11.796. J Med Genet. 2002. PMID: 12414817 Free PMC article.

2

Mutations in TITF-1 are associated with benign hereditary chorea.

Breedveld GJ, van Dongen JW, Danesino C, Guala A, Percy AK, Dure LS, Harper P, Lazarou LP, van der Linde H, Joosse M, Grüters A, MacDonald ME, de Vries BB, Arts WF, Oostra BA, Krude H, Heutink P. Breedveld GJ, et al. Among authors: guala a. Hum Mol Genet. 2002 Apr 15;11(8):971-9. doi: 10.1093/hmg/11.8.971. Hum Mol Genet. 2002. PMID: 11971878

3

Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome.

Drera B, Guala A, Zoppi N, Gardella R, Franceschini P, Barlati S, Colombi M. Drera B, et al. Among authors: guala a. Am J Med Genet A. 2007 Jan 15;143A(2):216-8. doi: 10.1002/ajmg.a.31514. Am J Med Genet A. 2007. PMID: 17163528 No abstract available.

4

The natural history of Cri du Chat Syndrome. A report from the Italian Register.

Mainardi PC, Pastore G, Castronovo C, Godi M, Guala A, Tamiazzo S, Provera S, Pierluigi M, Bricarelli FD. Mainardi PC, et al. Among authors: guala a. Eur J Med Genet. 2006 Sep-Oct;49(5):363-83. doi: 10.1016/j.ejmg.2005.12.004. Epub 2006 Jan 13. Eur J Med Genet. 2006. PMID: 16473053

5

Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant.

Franceschini P, Testa A, Bogetti G, Girardo E, Guala A, Lopez-Bell G, Buzio G, Ferrario E, Piccato E. Franceschini P, et al. Among authors: guala a. Am J Med Genet. 1992 Jan 1;42(1):112-6. doi: 10.1002/ajmg.1320420123. Am J Med Genet. 1992. PMID: 1308349

6

A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait.

Guala A, Germinetti V, Sebastiani F, Silengo MC. Guala A, et al. Clin Genet. 1992 Jun;41(6):293-5. doi: 10.1111/j.1399-0004.1992.tb03400.x. Clin Genet. 1992. PMID: 1623624

7

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism.

Gironi LC, Colombo E, Brusco A, Grosso E, Naretto VG, Guala A, Di Gregorio E, Zonta A, Zottarelli F, Pasini B, Savoia P. Gironi LC, et al. Among authors: guala a. Medicina (Kaunas). 2019 Jul 7;55(7):345. doi: 10.3390/medicina55070345. Medicina (Kaunas). 2019. PMID: 31284637 Free PMC article.

8

Gershoni-Baruch syndrome: report of a new family confirming autosomal recessive inheritance.

Franceschini P, Guala A, Licata D, Botta G, Flora F, Angeli G, Di Cara G, Franceschini D. Franceschini P, et al. Among authors: guala a. Am J Med Genet A. 2003 Oct 1;122A(2):174-9. doi: 10.1002/ajmg.a.20275. Am J Med Genet A. 2003. PMID: 12955772

9

Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome.

Guala A, Dellavecchia C, Mannarino S, Rognone F, Giglio S, Minelli A, Danesino C. Guala A, et al. Am J Med Genet. 1997 Oct 31;72(3):319-23. Am J Med Genet. 1997. PMID: 9332662 Review.

10

A novel mutation and novel features in Nijmegen breakage syndrome.

Maraschio P, Danesino C, Antoccia A, Ricordy R, Tanzarella C, Varon R, Reis A, Besana D, Guala A, Tiepolo L. Maraschio P, et al. Among authors: guala a. J Med Genet. 2001 Feb;38(2):113-7. doi: 10.1136/jmg.38.2.113. J Med Genet. 2001. PMID: 11288710 Free PMC article. No abstract available.

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