Battaglia A - Search Results

1

Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies.

Esplin ED, Li B, Slavotinek A, Novelli A, Battaglia A, Clark R, Curry C, Hudgins L. Esplin ED, et al. Among authors: battaglia a. Am J Med Genet A. 2014 Aug;164A(8):2097-103. doi: 10.1002/ajmg.a.36598. Epub 2014 May 6. Am J Med Genet A. 2014. PMID: 24800990 Review.

2

del (9p) syndrome: proposed behavior phenotype.

Chilosi A, Battaglia A, Brizzolara D, Cipriani P, Pfanner L, Carey JC. Chilosi A, et al. Among authors: battaglia a. Am J Med Genet. 2001 Apr 22;100(2):138-44. doi: 10.1002/ajmg.1230. Am J Med Genet. 2001. PMID: 11298375

3

Karyotype/phenotype correlations in duplication 4q: evidence for a critical region within 4q27-28 for preaxial defects.

Battaglia A, Chen Z, Brothman AR, Morelli S, Palumbos JC, Carey JC, Hudgins L, Disteche C. Battaglia A, et al. Am J Med Genet A. 2005 Apr 30;134(3):334-7. doi: 10.1002/ajmg.a.30644. Am J Med Genet A. 2005. PMID: 15759263 No abstract available.

4

Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis.

Battaglia A, Novelli A, Ceccarini C, Carey JC. Battaglia A, et al. Am J Med Genet A. 2006 Jan 15;140(2):144-50. doi: 10.1002/ajmg.a.31042. Am J Med Genet A. 2006. PMID: 16353244

5

Subtelomeric analysis detects a familial 10p;12p rearrangement in two relatives with a distinct syndrome.

Battaglia A, Novelli A, Ceccarini C, Bernardini L, Carey JC. Battaglia A, et al. Am J Med Genet A. 2007 Jan 15;143A(2):184-8. doi: 10.1002/ajmg.a.31590. Am J Med Genet A. 2007. PMID: 17163546

6

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC. Battaglia A, et al. Pediatrics. 2008 Feb;121(2):404-10. doi: 10.1542/peds.2007-0929. Pediatrics. 2008. PMID: 18245432

7

Further characterization of the new microdeletion syndrome of 16p11.2-p12.2.

Battaglia A, Novelli A, Bernardini L, Igliozzi R, Parrini B. Battaglia A, et al. Am J Med Genet A. 2009 Jun;149A(6):1200-4. doi: 10.1002/ajmg.a.32847. Am J Med Genet A. 2009. PMID: 19449418

8

FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing.

Clark RD, Graham JM Jr, Friez MJ, Hoo JJ, Jones KL, McKeown C, Moeschler JB, Raymond FL, Rogers RC, Schwartz CE, Battaglia A, Lyons MJ, Stevenson RE. Clark RD, et al. Among authors: battaglia a. Genet Med. 2009 Nov;11(11):769-75. doi: 10.1097/GIM.0b013e3181bd3d90. Genet Med. 2009. PMID: 19938245 Free PMC article.

9

6p25 interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder.

Bozza M, Bernardini L, Novelli A, Brovedani P, Moretti E, Canapicchi R, Doccini V, Filippi T, Battaglia A. Bozza M, et al. Among authors: battaglia a. Eur J Paediatr Neurol. 2013 May;17(3):225-31. doi: 10.1016/j.ejpn.2012.09.008. Epub 2012 Oct 12. Eur J Paediatr Neurol. 2013. PMID: 23069351 Review.

10

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.

Battaglia A, Doccini V, Bernardini L, Novelli A, Loddo S, Capalbo A, Filippi T, Carey JC. Battaglia A, et al. Eur J Paediatr Neurol. 2013 Nov;17(6):589-99. doi: 10.1016/j.ejpn.2013.04.010. Epub 2013 May 24. Eur J Paediatr Neurol. 2013. PMID: 23711909

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