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Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial.
J Clin Endocrinol Metab. 2023 Jun 16;108(7):1676-1685. doi: 10.1210/clinem/dgad014.
J Clin Endocrinol Metab. 2023.
PMID: 36639249
Free PMC article.
Clinical Trial.
A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease.
Zeiad RKHM, Ferren EC, Young DD, De Lancy SJ, Dedousis D, Schillaci LA, Redline RW, Saab ST, Crespo M, Bhatti TR, Ackermann AM, Bedoyan JK, Wood JR.
Zeiad RKHM, et al. Among authors: schillaci la.
J Endocr Soc. 2021 Jan 2;5(2):bvaa196. doi: 10.1210/jendso/bvaa196. eCollection 2021 Feb 1.
J Endocr Soc. 2021.
PMID: 33490854
Free PMC article.
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Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.
Bedoyan JK, Hage R, Shin HK, Linard S, Ferren E, Ducich N, Wilson K, Lehman A, Schillaci LA, Manickam K, Mori M, Bartholomew D, DeBrosse S, Cohen B, Parikh S, Kerr D.
Bedoyan JK, et al. Among authors: schillaci la.
JIMD Rep. 2020 Aug 16;56(1):70-81. doi: 10.1002/jmd2.12153. eCollection 2020 Nov.
JIMD Rep. 2020.
PMID: 33204598
Free PMC article.
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Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant.
Hannah WB, Dempsey KJ, Schillaci LP, Zacharias M, McCandless SE, Wynshaw-Boris A, Konczal LL, Bedoyan JK.
Hannah WB, et al.
Mol Genet Metab Rep. 2019 Nov 6;21:100537. doi: 10.1016/j.ymgmr.2019.100537. eCollection 2019 Dec.
Mol Genet Metab Rep. 2019.
PMID: 31844627
Free PMC article.
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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Geneviève D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA; Undiagnosed Diseases Network,; Eichler EE, Vincent JB; University of Washington Center for Mendelian Genomics (UW-CMG),; Bamshad MJ.
Mirzaa GM, et al. Among authors: schillaci la.
Genet Med. 2020 Mar;22(3):538-546. doi: 10.1038/s41436-019-0693-9. Epub 2019 Nov 14.
Genet Med. 2020.
PMID: 31723249
Free PMC article.
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Inborn Errors of Metabolism with Acidosis: Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism.
Schillaci LP, DeBrosse SD, McCandless SE.
Schillaci LP, et al.
Pediatr Clin North Am. 2018 Apr;65(2):209-230. doi: 10.1016/j.pcl.2017.11.003. Epub 2017 Dec 28.
Pediatr Clin North Am. 2018.
PMID: 29502910
Review.
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The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
Schillaci LA, Greene CL, Strovel E, Rispoli-Joines J, Spector E, Woontner M, Scharer G, Enns GM, Gallagher R, Zinn AB, McCandless SE, Hoppel CL, Goodman SI, Bedoyan JK.
Schillaci LA, et al.
Mol Genet Metab. 2016 Sep;119(1-2):50-6. doi: 10.1016/j.ymgme.2016.06.012. Epub 2016 Jul 1.
Mol Genet Metab. 2016.
PMID: 27397597
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Photosynthetic redox imbalance governs leaf sectoring in the Arabidopsis thaliana variegation mutants immutans, spotty, var1, and var2.
Rosso D, Bode R, Li W, Krol M, Saccon D, Wang S, Schillaci LA, Rodermel SR, Maxwell DP, Hüner NP.
Rosso D, et al. Among authors: schillaci la.
Plant Cell. 2009 Nov;21(11):3473-92. doi: 10.1105/tpc.108.062752. Epub 2009 Nov 6.
Plant Cell. 2009.
PMID: 19897671
Free PMC article.
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