Sutton VR - Search Results

1

19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias.

Gana S, Veggiotti P, Sciacca G, Fedeli C, Bersano A, Micieli G, Maghnie M, Ciccone R, Rossi E, Plunkett K, Bi W, Sutton VR, Zuffardi O. Gana S, et al. Among authors: sutton vr. Eur J Hum Genet. 2012 Aug;20(8):852-6. doi: 10.1038/ejhg.2012.19. Epub 2012 Feb 29. Eur J Hum Genet. 2012. PMID: 22378287 Free PMC article.

2

The right to ignore genetic status of late onset genetic disease in the genomic era; Prenatal testing for Huntington disease as a paradigm.

Erez A, Plunkett K, Sutton VR, McGuire AL. Erez A, et al. Among authors: sutton vr. Am J Med Genet A. 2010 Jul;152A(7):1774-80. doi: 10.1002/ajmg.a.33432. Am J Med Genet A. 2010. PMID: 20583190 Free PMC article.

3

Cranio-meta-diaphyseal dysplasia: 25 year follow-up and review of literature.

Dhar SU, Taylor T, Trinh C, Sutton VR. Dhar SU, et al. Among authors: sutton vr. Am J Med Genet A. 2010 Sep;152A(9):2335-8. doi: 10.1002/ajmg.a.33582. Am J Med Genet A. 2010. PMID: 20684007 Review.

4

3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.

Sutton VR, O'Brien WE, Clark GD, Kim J, Wanders RJ. Sutton VR, et al. J Inherit Metab Dis. 2003;26(1):69-71. doi: 10.1023/a:1024083715568. J Inherit Metab Dis. 2003. PMID: 12872843

5

Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment.

Tallis E, Karsenty CL, Grimes AB, Karam LB, Elsea SH, Sutton VR, Rawls-Castillo BL, Liu N, Soler-Alfonso C. Tallis E, et al. Among authors: sutton vr. JIMD Rep. 2022 May 22;63(4):309-315. doi: 10.1002/jmd2.12304. eCollection 2022 Jul. JIMD Rep. 2022. PMID: 35822097 Free PMC article.

6

The electroencephalogram in neonatal maple syrup urine disease: a case report.

Agadi S, Sutton VR, Quach MM, Riviello JJ Jr. Agadi S, et al. Among authors: sutton vr. Clin EEG Neurosci. 2012 Jan;43(1):64-7. doi: 10.1177/1550059411429521. Clin EEG Neurosci. 2012. PMID: 22423553

7

Regional localization of the mouse argininosuccinate lyase gene to chromosome 5.

Sutton VR, Pan Y, Craigen WJ. Sutton VR, et al. Mamm Genome. 1997;8(11):871. doi: 10.1007/s003359900600. Mamm Genome. 1997. PMID: 9337408 No abstract available.

8

Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.

Yang SY, He XY, Olpin SE, Sutton VR, McMenamin J, Philipp M, Denman RB, Malik M. Yang SY, et al. Among authors: sutton vr. Proc Natl Acad Sci U S A. 2009 Sep 1;106(35):14820-4. doi: 10.1073/pnas.0902377106. Epub 2009 Aug 17. Proc Natl Acad Sci U S A. 2009. PMID: 19706438 Free PMC article.

9

The Multifunctional Catalytic Hemoglobin from Amphitrite ornata: Protocols on Isolation, Taxonomic Identification, Protein Extraction, Purification, and Characterization.

Husted AL, Sutton VR, Presnar LA, Blackburn RK, Staton JL, Borgianini SA, D'Antonio EL. Husted AL, et al. Among authors: sutton vr. Methods Protoc. 2024 Dec 11;7(6):100. doi: 10.3390/mps7060100. Methods Protoc. 2024. PMID: 39728620 Free PMC article.

10

Velmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).

Lander JM, Penon-Portmann M, Sutton VR, Chang I; ACMG Therapeutics Committee5∗documents@acmg.net. Lander JM, et al. Among authors: sutton vr. Genet Med Open. 2024 Apr 5;2:101832. doi: 10.1016/j.gimo.2024.101832. eCollection 2024. Genet Med Open. 2024. PMID: 39669629 Free PMC article. No abstract available.

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