Alaimo JT - Search Results

1

Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor.

Le TN, Williams SR, Alaimo JT, Elsea SH. Le TN, et al. Among authors: alaimo jt. Am J Med Genet A. 2019 May;179(5):782-791. doi: 10.1002/ajmg.a.61089. Epub 2019 Mar 7. Am J Med Genet A. 2019. PMID: 30848064 Review.

2

Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1.

Alaimo JT, Hahn NC, Mullegama SV, Elsea SH. Alaimo JT, et al. PLoS One. 2014 Aug 15;9(8):e105077. doi: 10.1371/journal.pone.0105077. eCollection 2014. PLoS One. 2014. PMID: 25127133 Free PMC article.

3

Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.

Mullegama SV, Alaimo JT, Chen L, Elsea SH. Mullegama SV, et al. Among authors: alaimo jt. Int J Mol Sci. 2015 Apr 7;16(4):7627-43. doi: 10.3390/ijms16047627. Int J Mol Sci. 2015. PMID: 25853262 Free PMC article.

4

Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome.

Alaimo JT, Barton LV, Mullegama SV, Wills RD, Foster RH, Elsea SH. Alaimo JT, et al. Res Dev Disabil. 2015 Dec;47:27-38. doi: 10.1016/j.ridd.2015.08.011. Epub 2015 Aug 28. Res Dev Disabil. 2015. PMID: 26323055

5

Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience.

Chen L, Mullegama SV, Alaimo JT, Elsea SH. Chen L, et al. Among authors: alaimo jt. Dev Period Med. 2015 Apr-Jun;19(2):149-56. Dev Period Med. 2015. PMID: 26384114 Review.

6

Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis.

Alaimo JT, Mullegama SV, Thomas MA, Elsea SH. Alaimo JT, et al. Mol Cytogenet. 2015 Oct 5;8:75. doi: 10.1186/s13039-015-0179-7. eCollection 2015. Mol Cytogenet. 2015. PMID: 26442755 Free PMC article.

7

Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies.

Perkins T, Rosenberg JM, Le Coz C, Alaimo JT, Trofa M, Mullegama SV, Antaya RJ, Jyonouchi S, Elsea SH, Utz PJ, Meffre E, Romberg N. Perkins T, et al. Among authors: alaimo jt. J Allergy Clin Immunol Pract. 2017 Sep-Oct;5(5):1344-1350.e3. doi: 10.1016/j.jaip.2017.01.028. Epub 2017 Mar 9. J Allergy Clin Immunol Pract. 2017. PMID: 28286158 Free PMC article.

8

RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome.

Mullegama SV, Alaimo JT, Fountain MD, Burns B, Balog AH, Chen L, Elsea SH. Mullegama SV, et al. Among authors: alaimo jt. J Pediatr Genet. 2017 Sep;6(3):155-164. doi: 10.1055/s-0037-1599147. Epub 2017 Mar 7. J Pediatr Genet. 2017. PMID: 28794907 Free PMC article.

9

Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

Chen L, Jensik PJ, Alaimo JT, Walkiewicz M, Berger S, Roeder E, Faqeih EA, Bernstein JA, Smith ACM, Mullegama SV, Saffen DW, Elsea SH. Chen L, et al. Among authors: alaimo jt. Hum Mutat. 2017 Dec;38(12):1774-1785. doi: 10.1002/humu.23339. Epub 2017 Sep 23. Hum Mutat. 2017. PMID: 28940898 Free PMC article.

10

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.

Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC. Zollino M, et al. Clin Genet. 2019 Apr;95(4):462-478. doi: 10.1111/cge.13506. Epub 2019 Feb 18. Clin Genet. 2019. PMID: 30677142 Review.

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