Failla P - Search Results

1

Recurrent duplications of 17q12 associated with variable phenotypes.

Mitchell E, Douglas A, Kjaegaard S, Callewaert B, Vanlander A, Janssens S, Yuen AL, Skinner C, Failla P, Alberti A, Avola E, Fichera M, Kibaek M, Digilio MC, Hannibal MC, den Hollander NS, Bizzarri V, Renieri A, Mencarelli MA, Fitzgerald T, Piazzolla S, van Oudenhove E, Romano C, Schwartz C, Eichler EE, Slavotinek A, Escobar L, Rajan D, Crolla J, Carter N, Hodge JC, Mefford HC. Mitchell E, et al. Among authors: failla p. Am J Med Genet A. 2015 Dec;167A(12):3038-45. doi: 10.1002/ajmg.a.37351. Epub 2015 Sep 30. Am J Med Genet A. 2015. PMID: 26420380

2

Growth hormone subnormality in Down syndrome.

Ragusa L, Romano C, Failla P, Proto C, Colabucci F. Ragusa L, et al. Among authors: failla p. Am J Med Genet. 1992 Jul 15;43(5):894-5. doi: 10.1002/ajmg.1320430529. Am J Med Genet. 1992. PMID: 1386497 No abstract available.

3

Skin-picking: the best cutaneous feature in the recognization of Prader-Willi syndrome.

Schepis C, Failla P, Siragusa M, Romano C. Schepis C, et al. Among authors: failla p. Int J Dermatol. 1994 Dec;33(12):866-7. doi: 10.1111/j.1365-4362.1994.tb01024.x. Int J Dermatol. 1994. PMID: 7883413 No abstract available.

4

Hypomelanosis of Ito: a syndrome requiring a multisystem approach.

Failla P, Romano C, Schepis C. Failla P, et al. Australas J Dermatol. 1997 May;38(2):65-70. doi: 10.1111/j.1440-0960.1997.tb01108.x. Australas J Dermatol. 1997. PMID: 9159959

5

New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online.

Fichera M, Romano C, Castiglia L, Failla P, Ruberto C, Amata S, Greco D, Cardoso C, Fontés M, Ragusa A. Fichera M, et al. Among authors: failla p. Hum Mutat. 1998;12(3):214. Hum Mutat. 1998. PMID: 10660327

6

Comparison of three probiotics in the treatment of acute diarrhea in mentally retarded children.

Barone C, Pettinato R, Avola E, Alberti A, Greco D, Failla P, Romano C. Barone C, et al. Among authors: failla p. Minerva Pediatr. 2000 Mar;52(3):161-5. Minerva Pediatr. 2000. PMID: 10879009 English, Italian.

7

Is there a relationship between zinc and the peculiar comorbidities of Down syndrome?

Romano C, Pettinato R, Ragusa L, Barone C, Alberti A, Failla P. Romano C, et al. Among authors: failla p. Downs Syndr Res Pract. 2002 Mar;8(1):25-8. doi: 10.3104/reports.126. Downs Syndr Res Pract. 2002. PMID: 11915434 Free article.

8

Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: contradictory results.

Castiglia L, Fichera M, Romano C, Galesi O, Grillo L, Sturnio M, Failla P. Castiglia L, et al. Among authors: failla p. Am J Hum Genet. 2005 Nov;77(5):892-4; author reply 894-5. doi: 10.1086/497082. Am J Hum Genet. 2005. PMID: 16252246 Free PMC article. No abstract available.

9

Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay.

Falco M, Romano C, Alberti A, Greco D, Scuderi C, Avola E, Failla P, Belli S, Tolmie JL, Amata S, Fichera M. Falco M, et al. Among authors: failla p. Clin Chem. 2005 Dec;51(12):2356-8. doi: 10.1373/clinchem.2005.056036. Clin Chem. 2005. PMID: 16306095 No abstract available.

10

Schizophrenia in a patient with subtelomeric duplication of chromosome 22q.

Failla P, Romano C, Alberti A, Vasta A, Buono S, Castiglia L, Luciano D, Di Benedetto D, Fichera M, Galesi O. Failla P, et al. Clin Genet. 2007 Jun;71(6):599-601. doi: 10.1111/j.1399-0004.2007.00819.x. Clin Genet. 2007. PMID: 17539913 No abstract available.

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