Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
7 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.
Am J Hum Genet. 2020 May 7;106(5):623-631. doi: 10.1016/j.ajhg.2020.03.009. Epub 2020 Apr 9.
Am J Hum Genet. 2020.
PMID: 32275884
Free PMC article.
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Muir AM, Gardner JF, van Jaarsveld RH, de Lange IM, van der Smagt JJ, Wilson GN, Dubbs H, Goldberg EM, Zitano L, Bupp C, Martinez J, Srour M, Accogli A, Alhakeem A, Meltzer M, Gropman A, Brewer C, Caswell RC, Montgomery T, McKenna C, McKee S, Powell C, Vasudevan PC, Brady AF, Joss S, Tysoe C, Noh G, Tarnopolsky M, Brady L, Zafar M, Schrier Vergano SA, Murray B, Sawyer L, Hainline BE, Sapp K, DeMarzo D, Huismann DJ, Wentzensen IM, Schnur RE, Monaghan KG, Juusola J, Rhodes L, Dobyns WB, Lecoquierre F, Goldenberg A, Polster T, Axer-Schaefer S, Platzer K, Klöckner C, Hoffman TL, MacArthur DG, O'Leary MC, VanNoy GE, England E, Varghese VC, Mefford HC.
Muir AM, et al. Among authors: demarzo d.
Genet Med. 2021 May;23(5):881-887. doi: 10.1038/s41436-020-01076-8. Epub 2021 Jan 20.
Genet Med. 2021.
PMID: 33473207
Free PMC article.
Item in Clipboard
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.
Yigit G, Saida K, DeMarzo D, Miyake N, Fujita A, Yang Tan T, White SM, Wadley A, Toliat MR, Motameny S, Franitza M, Stutterd CA, Chong PF, Kira R, Sengoku T, Ogata K, Guillen Sacoto MJ, Fresen C, Beck BB, Nürnberg P, Dieterich C, Wollnik B, Matsumoto N, Altmüller J.
Yigit G, et al. Among authors: demarzo d.
Hum Mutat. 2020 Mar;41(3):591-599. doi: 10.1002/humu.23964. Epub 2019 Dec 24.
Hum Mutat. 2020.
PMID: 31821646
Item in Clipboard
Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency-Lessons learned.
Lin HT, Enchautegui-Colon Y, Huang YR, Zimmerman C, DeMarzo D, Tsai AC.
Lin HT, et al. Among authors: demarzo d.
Mol Genet Metab Rep. 2022 Nov 26;33:100942. doi: 10.1016/j.ymgmr.2022.100942. eCollection 2022 Dec.
Mol Genet Metab Rep. 2022.
PMID: 36466970
Free PMC article.
Item in Clipboard
Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia.
Tsai AC, Lin HT, Chou M, Bolen J, Zimmerman C, DeMarzo D, Enchautegui-Colon Y.
Tsai AC, et al. Among authors: demarzo d.
Mol Genet Metab Rep. 2022 Mar 19;31:100859. doi: 10.1016/j.ymgmr.2022.100859. eCollection 2022 Jun.
Mol Genet Metab Rep. 2022.
PMID: 35782626
Free PMC article.
Item in Clipboard
Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies.
Walker A, Wang X, Kim YM, Lu X, Taylor A, Demarzo D, Li S, Pang H.
Walker A, et al. Among authors: demarzo d.
Mol Cytogenet. 2022 Apr 19;15(1):17. doi: 10.1186/s13039-022-00595-0.
Mol Cytogenet. 2022.
PMID: 35440058
Free PMC article.
Review.
Item in Clipboard
Effects of the nematode Phasmarhabditis hermaphrodita and of venom from the endoparasitic wasp Pimpla hypochondriaca on survival and food consumption of the pest slug Deroceras reticulatum; implications for novel biocontrol strategies.
Richards EH, DeMarzo D, Port GR, Dani MP, Walters KF.
Richards EH, et al. Among authors: demarzo d.
Pest Manag Sci. 2008 Jul;64(7):711-9. doi: 10.1002/ps.1546.
Pest Manag Sci. 2008.
PMID: 18508383
Item in Clipboard
Cite
Cite