Guala A - Search Results

1

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.

2

Early onset of gastric carcinoma and constitutional deletion of 18p.

Dellavecchia C, Guala A, Olivieri C, Haintink O, Cadario F, Luinetti O, Fiocca R, Minelli A, Danesino C, Bona G. Dellavecchia C, et al. Among authors: guala a. Cancer Genet Cytogenet. 1999 Aug;113(1):96-9. doi: 10.1016/s0165-4608(99)00003-5. Cancer Genet Cytogenet. 1999. PMID: 10459356

3

Anesthesia in Cri du Chat syndrome: Information on 51 Italian patients.

Guala A, Spunton M, Mainardi PC, Emmig U, Acucella G, Danesino C. Guala A, et al. Am J Med Genet A. 2015 May;167A(5):1168-70. doi: 10.1002/ajmg.a.36992. Epub 2015 Mar 28. Am J Med Genet A. 2015. PMID: 25820652 No abstract available.

4

Duplication of the pituitary stalk in a patient with a heterozygous deletion of chromosome 14 harboring the thyroid transcription factor-1 gene.

Accornero S, Danesino C, Bastianello S, D'Errico I, Guala A, Chiovato L. Accornero S, et al. Among authors: guala a. J Clin Endocrinol Metab. 2010 Aug;95(8):3595-6. doi: 10.1210/jc.2010-0621. J Clin Endocrinol Metab. 2010. PMID: 20685887

5

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.

6

Skin picking disorder in 97 Italian and Spanish Cri du chat patients.

Spunton M, Guala A, Liverani ME, Medolago L, Tognon F, Casado F, Del Valle M, Porras J, Larrea I, Porta G, Albani G, Nevado J, Danesino C. Spunton M, et al. Among authors: guala a. Am J Med Genet A. 2019 Aug;179(8):1525-1530. doi: 10.1002/ajmg.a.61259. Epub 2019 Jun 12. Am J Med Genet A. 2019. PMID: 31187941

7

Maternal germinal mosaicism for SCN1A in sibs with a mild form of Dravet syndrome.

Guala A, Peruzzi C, Gennaro E, Pennese L, Danesino C. Guala A, et al. Am J Med Genet A. 2015 May;167A(5):1165-7. doi: 10.1002/ajmg.a.36990. Am J Med Genet A. 2015. PMID: 25885068 No abstract available.

8

Deletion of PAX9 and oligodontia: a third family and review of the literature.

Guala A, Falco V, Breedveld G, De Filippi P, Danesino C. Guala A, et al. Int J Paediatr Dent. 2008 Nov;18(6):441-5. doi: 10.1111/j.1365-263X.2008.00915.x. Epub 2008 Apr 28. Int J Paediatr Dent. 2008. PMID: 18445003 Review.

9

Neoplasia in Cri du Chat Syndrome from Italian and German Databases.

Guala A, Spunton M, Kalantari S, Kennerknecht I, Danesino C. Guala A, et al. Case Rep Genet. 2017;2017:5181624. doi: 10.1155/2017/5181624. Epub 2017 Apr 24. Case Rep Genet. 2017. PMID: 28523196 Free PMC article.

10

A case of multiple intestinal atresias, brain anomalies, mental retardation, growth hormone deficiency and clitoris hypertrophy.

Guala A, Licardi G, Maghnie M, Minniti S, Danesino C. Guala A, et al. Clin Dysmorphol. 1998 Jul;7(3):209-11. doi: 10.1097/00019605-199807000-00010. Clin Dysmorphol. 1998. PMID: 9689996 No abstract available.

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