Pescosolido MF - Search Results

1

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.

Pescosolido MF, Stein DM, Schmidt M, El Achkar CM, Sabbagh M, Rogg JM, Tantravahi U, McLean RL, Liu JS, Poduri A, Morrow EM. Pescosolido MF, et al. Ann Neurol. 2014 Oct;76(4):581-93. doi: 10.1002/ana.24225. Epub 2014 Sep 19. Ann Neurol. 2014. PMID: 25044251 Free PMC article.

2

A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene.

Sofos E, Pescosolido MF, Quintos JB, Abuelo D, Gunn S, Hovanes K, Morrow EM, Shur N. Sofos E, et al. Among authors: pescosolido mf. Am J Med Genet A. 2012 Jan;158A(1):50-8. doi: 10.1002/ajmg.a.34290. Epub 2011 Nov 3. Am J Med Genet A. 2012. PMID: 22052655

3

Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders.

Pescosolido MF, Yang U, Sabbagh M, Morrow EM. Pescosolido MF, et al. Dialogues Clin Neurosci. 2012 Sep;14(3):239-52. Dialogues Clin Neurosci. 2012. PMID: 23226950 Free PMC article. Review.

4

An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocytic astrocytoma.

Minhas HM, Pescosolido MF, Schwede M, Piasecka J, Gaitanis J, Tantravahi U, Morrow EM. Minhas HM, et al. Among authors: pescosolido mf. Am J Med Genet A. 2013 Apr;161A(4):787-91. doi: 10.1002/ajmg.a.35841. Epub 2013 Mar 12. Am J Med Genet A. 2013. PMID: 23495067 Free PMC article.

5

Distribution of disease-associated copy number variants across distinct disorders of cognitive development.

Pescosolido MF, Gamsiz ED, Nagpal S, Morrow EM. Pescosolido MF, et al. J Am Acad Child Adolesc Psychiatry. 2013 Apr;52(4):414-430.e14. doi: 10.1016/j.jaac.2013.01.003. J Am Acad Child Adolesc Psychiatry. 2013. PMID: 23582872 Free PMC article. Review.

6

Clinical characteristics of children with autism spectrum disorder and co-occurring epilepsy.

Viscidi EW, Triche EW, Pescosolido MF, McLean RL, Joseph RM, Spence SJ, Morrow EM. Viscidi EW, et al. Among authors: pescosolido mf. PLoS One. 2013 Jul 4;8(7):e67797. doi: 10.1371/journal.pone.0067797. Print 2013. PLoS One. 2013. PMID: 23861807 Free PMC article.

7

Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein.

Pescosolido MF, Schwede M, Johnson Harrison A, Schmidt M, Gamsiz ED, Chen WS, Donahue JP, Shur N, Jerskey BA, Phornphutkul C, Morrow EM. Pescosolido MF, et al. J Med Genet. 2014 Sep;51(9):587-9. doi: 10.1136/jmedgenet-2014-102444. Epub 2014 Jul 23. J Med Genet. 2014. PMID: 25057125 Free PMC article. No abstract available.

8

Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms.

Gamsiz ED, Sciarra LN, Maguire AM, Pescosolido MF, van Dyck LI, Morrow EM. Gamsiz ED, et al. Among authors: pescosolido mf. Neurotherapeutics. 2015 Jul;12(3):553-71. doi: 10.1007/s13311-015-0363-9. Neurotherapeutics. 2015. PMID: 26105128 Free PMC article. Review.

9

Mixed Neurodevelopmental and Neurodegenerative Pathology in Nhe6-Null Mouse Model of Christianson Syndrome.

Xu M, Ouyang Q, Gong J, Pescosolido MF, Pruett BS, Mishra S, Schmidt M, Jones RN, Gamsiz Uzun ED, Lizarraga SB, Morrow EM. Xu M, et al. Among authors: pescosolido mf. eNeuro. 2018 Jan 17;4(6):ENEURO.0388-17.2017. doi: 10.1523/ENEURO.0388-17.2017. eCollection 2017 Nov-Dec. eNeuro. 2018. PMID: 29349289 Free PMC article.

10

Complex Neurological Phenotype in Female Carriers of NHE6 Mutations.

Pescosolido MF, Kavanaugh BC, Pochet N, Schmidt M, Jerskey BA, Rogg JM, De Jager PL, Young-Pearse TL, Liu JS, Morrow EM. Pescosolido MF, et al. Mol Neuropsychiatry. 2019 Apr;5(2):98-108. doi: 10.1159/000496341. Epub 2019 Mar 6. Mol Neuropsychiatry. 2019. PMID: 31192222 Free PMC article.

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