Bacino CA - Search Results

1

Cerebral folate deficiency with developmental delay, autism, and response to folinic acid.

Moretti P, Sahoo T, Hyland K, Bottiglieri T, Peters S, del Gaudio D, Roa B, Curry S, Zhu H, Finnell RH, Neul JL, Ramaekers VT, Blau N, Bacino CA, Miller G, Scaglia F. Moretti P, et al. Among authors: bacino ca. Neurology. 2005 Mar 22;64(6):1088-90. doi: 10.1212/01.WNL.0000154641.08211.B7. Neurology. 2005. PMID: 15781839

2

Cognitive and adaptive behavior profiles of children with Angelman syndrome.

Peters SU, Goddard-Finegold J, Beaudet AL, Madduri N, Turcich M, Bacino CA. Peters SU, et al. Among authors: bacino ca. Am J Med Genet A. 2004 Jul 15;128A(2):110-3. doi: 10.1002/ajmg.a.30065. Am J Med Genet A. 2004. PMID: 15213998

3

Autism in Angelman syndrome: implications for autism research.

Peters SU, Beaudet AL, Madduri N, Bacino CA. Peters SU, et al. Among authors: bacino ca. Clin Genet. 2004 Dec;66(6):530-6. doi: 10.1111/j.1399-0004.2004.00362.x. Clin Genet. 2004. PMID: 15521981

4

A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation.

Sahoo T, Naeem R, Pham K, Chheng S, Noblin ST, Bacino CA, Gambello MJ. Sahoo T, et al. Among authors: bacino ca. Am J Med Genet A. 2005 Feb 15;133A(1):93-8. doi: 10.1002/ajmg.a.30535. Am J Med Genet A. 2005. PMID: 15637724 Review.

5

Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations.

Sahoo T, Peters SU, Madduri NS, Glaze DG, German JR, Bird LM, Barbieri-Welge R, Bichell TJ, Beaudet AL, Bacino CA. Sahoo T, et al. Among authors: bacino ca. J Med Genet. 2006 Jun;43(6):512-6. doi: 10.1136/jmg.2005.036913. Epub 2005 Sep 23. J Med Genet. 2006. PMID: 16183798 Free PMC article.

6

Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review.

Lennon PA, Cooper ML, Peiffer DA, Gunderson KL, Patel A, Peters S, Cheung SW, Bacino CA. Lennon PA, et al. Among authors: bacino ca. Am J Med Genet A. 2007 Apr 15;143A(8):791-8. doi: 10.1002/ajmg.a.31632. Am J Med Genet A. 2007. PMID: 17330859 Review.

7

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.

Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU. Sahoo T, et al. Among authors: bacino ca. Eur J Hum Genet. 2007 Sep;15(9):943-9. doi: 10.1038/sj.ejhg.5201859. Epub 2007 May 23. Eur J Hum Genet. 2007. PMID: 17522620 Free article.

8

Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.

Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR. Cheung SW, et al. Among authors: bacino ca. Am J Med Genet A. 2007 Aug 1;143A(15):1679-86. doi: 10.1002/ajmg.a.31740. Am J Med Genet A. 2007. PMID: 17607705

9

Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.

Kang SH, Scheffer A, Ou Z, Li J, Scaglia F, Belmont J, Lalani SR, Roeder E, Enciso V, Braddock S, Buchholz J, Vacha S, Chinault AC, Cheung SW, Bacino CA. Kang SH, et al. Among authors: bacino ca. Clin Genet. 2007 Oct;72(4):329-38. doi: 10.1111/j.1399-0004.2007.00876.x. Clin Genet. 2007. PMID: 17850629

10

Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency.

Moretti P, Peters SU, Del Gaudio D, Sahoo T, Hyland K, Bottiglieri T, Hopkin RJ, Peach E, Min SH, Goldman D, Roa B, Bacino CA, Scaglia F. Moretti P, et al. Among authors: bacino ca. J Autism Dev Disord. 2008 Jul;38(6):1170-7. doi: 10.1007/s10803-007-0492-z. Epub 2007 Nov 20. J Autism Dev Disord. 2008. PMID: 18027081 Free PMC article.

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