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Items: 1 to 20 of 163

1.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, Pfotenhauer JP, Xia F, Bi W, Kang SL, Patel A, Krantz ID, Raible SE, Smith W, Cristian I, Torti E, Juusola J, Millan F, Wentzensen IM, Person RE, Küry S, Bézieau S, Uguen K, Férec C, Munnich A, van Haelst M, Lichtenbelt KD, van Gassen K, Hagelstrom T, Chawla A, Perry DL, Taft RJ, Jones M, Masser-Frye D, Dyment D, Venkateswaran S, Li C, Escobar LF, Horn D, Spillmann RC, Peña L, Wierzba J, Strom TM, Parenti I, Kaiser FJ, Ehmke N, Schaaf CP.

Genet Med. 2019 Jan 25. doi: 10.1038/s41436-019-0433-1. [Epub ahead of print]

PMID:
30679821
2.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, McLaughlin H, Rosello Piera M, Orellana C, Martínez F, Caro-Llopis A, Monfort S, Roscioli T, Nixon CY, Buckley MF, Turner A, Jones WD, van Hasselt PM, Hofstede FC, van Gassen KLI, Brooks AS, van Slegtenhorst MA, Lachlan K, Sebastian J, Madan-Khetarpal S, Sonal D, Sakkubai N, Thevenon J, Faivre L, Maurel A, Petrovski S, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH; Undiagnosed Diseases Network, Campeau PM.

Am J Hum Genet. 2019 Jan 3;104(1):164-178. doi: 10.1016/j.ajhg.2018.11.007. Epub 2018 Dec 20.

3.

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.

Baker SW, Murrell JR, Nesbitt AI, Pechter KB, Balciuniene J, Zhao X, Yu Z, Denenberg EH, DeChene ET, Wilkens AB, Bhoj EJ, Guan Q, Dulik MC, Conlin LK, Abou Tayoun AN, Luo M, Wu C, Cao K, Sarmady M, Bedoukian EC, Tarpinian J, Medne L, Skraban CM, Deardorff MA, Krantz ID, Krock BL, Santani AB.

J Mol Diagn. 2019 Jan;21(1):38-48. doi: 10.1016/j.jmoldx.2018.07.008.

4.

Mutagenicity and Lung Toxicity of Smoldering vs. Flaming Emissions from Various Biomass Fuels: Implications for Health Effects from Wildland Fires.

Kim YH, Warren SH, Krantz QT, King C, Jaskot R, Preston WT, George BJ, Hays MD, Landis MS, Higuchi M, DeMarini DM, Gilmour MI.

Environ Health Perspect. 2018 Jan 24;126(1):017011. doi: 10.1289/EHP2200.

5.

Effect of Information of Patients' Coping Style on Pregastroscopy Anxiety.

Liu YY, Liu YQ, Petrini MA.

Gastroenterol Nurs. 2018 Jan/Feb;41(1):47-58. doi: 10.1097/SGA.0000000000000302.

PMID:
29373355
6.

NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.

Mills JA, Herrera PS, Kaur M, Leo L, McEldrew D, Tintos-Hernandez JA, Rajagopalan R, Gagne A, Zhang Z, Ortiz-Gonzalez XR, Krantz ID.

Sci Rep. 2018 Jan 18;8(1):1056. doi: 10.1038/s41598-018-19173-9.

7.

Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.

Helgeson M, Keller-Ramey J, Knight Johnson A, Lee JA, Magner DB, Deml B, Deml J, Hu YY, Li Z, Donato K, Das S, Laframboise R, Tremblay S, Krantz I, Noon S, Hoganson G, Burton J, Schaaf CP, Del Gaudio D.

J Hum Genet. 2018 Mar;63(3):349-356. doi: 10.1038/s10038-017-0387-6. Epub 2017 Dec 26.

PMID:
29279609
8.

Mental stress peripheral vascular reactivity is elevated in women with coronary vascular dysfunction: Results from the NHLBI-sponsored Cardiac Autonomic Nervous System (CANS) study.

Mehta PK, Hermel M, Nelson MD, Cook-Wiens G, Martin EA, Alkhoder AA, Wei J, Minissian M, Shufelt CL, Marpuri S, Hermel D, Shah A, Irwin MR, Krantz DS, Lerman A, Noel Bairey Merz C.

Int J Cardiol. 2018 Jan 15;251:8-13. doi: 10.1016/j.ijcard.2017.10.061. Epub 2017 Oct 22.

9.

First-trimester screening for early and late preeclampsia using maternal characteristics, biomarkers, and estimated placental volume.

Sonek J, Krantz D, Carmichael J, Downing C, Jessup K, Haidar Z, Ho S, Hallahan T, Kliman HJ, McKenna D.

Am J Obstet Gynecol. 2018 Jan;218(1):126.e1-126.e13. doi: 10.1016/j.ajog.2017.10.024. Epub 2017 Oct 31.

PMID:
29097177
10.

Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.

Romasko EJ, Devkota B, Biswas S, Jayaraman V, Rajagopalan R, Dulik MC, Thom CS, Choi J, Jairam S, Scarano MI, Krantz ID, Spinner NB, Conlin LK, Lambert MP.

Am J Hematol. 2018 Jan;93(1):8-16. doi: 10.1002/ajh.24917. Epub 2017 Oct 20.

11.

Recurrence of extreme serum analytes in consecutive pregnancies and association with obstetrical outcomes.

Soni S, Krantz DA, Greenberg M, Vohra N, Rochelson B.

J Matern Fetal Neonatal Med. 2019 Jan;32(1):85-91. doi: 10.1080/14767058.2017.1371695. Epub 2017 Sep 12.

PMID:
28838266
12.

CHAD is Dead: Pragmatic Utility of the CHA2DS2-VASc Score in Non-Valvular Atrial Fibrillation?

Foley TR, Krantz MJ.

J Gen Intern Med. 2018 Jan;33(1):7-8. doi: 10.1007/s11606-017-4148-1. No abstract available.

13.

Uveal melanoma: epidemiology, etiology, and treatment of primary disease.

Krantz BA, Dave N, Komatsubara KM, Marr BP, Carvajal RD.

Clin Ophthalmol. 2017 Jan 31;11:279-289. doi: 10.2147/OPTH.S89591. eCollection 2017. Review.

14.

Severe tricuspid regurgitation due to valvular entrapment of an inferior vena cava stent.

Hesterberg K, Babu A, Frank M, Hogan S, Krantz MJ.

Clin Case Rep. 2017 Jan 17;5(2):130-133. doi: 10.1002/ccr3.812. eCollection 2017 Feb.

15.

Violent Video Games Exposed: A Blow by Blow Account of Senseless Violence in Games.

Krantz A, Shukla V, Knox M, Schrouder K.

J Psychol. 2017 Jan 2;151(1):76-87. doi: 10.1080/00223980.2016.1226744. Epub 2016 Sep 23.

PMID:
27662539
16.

Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR.

Fujiki K, Shirahige K, Kaur M, Deardorff MA, Conlin LK, Krantz ID, Izumi K.

Mol Genet Genomic Med. 2016 Jan 20;4(3):257-61. doi: 10.1002/mgg3.200. eCollection 2016 May.

17.

NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR.

Yuen KC, Xu B, Krantz ID, Gerton JL.

Cell Rep. 2016 Jan 5;14(1):93-102. doi: 10.1016/j.celrep.2015.12.012. Epub 2015 Dec 24.

18.

Ziram, a pesticide associated with increased risk for Parkinson's disease, differentially affects the presynaptic function of aminergic and glutamatergic nerve terminals at the Drosophila neuromuscular junction.

Martin CA, Myers KM, Chen A, Martin NT, Barajas A, Schweizer FE, Krantz DE.

Exp Neurol. 2016 Jan;275 Pt 1:232-41. doi: 10.1016/j.expneurol.2015.09.017. Epub 2015 Oct 9.

19.

Help-seeking behaviours, barriers to care and self-efficacy for seeking mental health care: a population-based study in Rwanda.

Umubyeyi A, Mogren I, Ntaganira J, Krantz G.

Soc Psychiatry Psychiatr Epidemiol. 2016 Jan;51(1):81-92. doi: 10.1007/s00127-015-1130-2. Epub 2015 Oct 3.

20.

Impact of solution chemistry on the properties and bactericidal activity of silver nanoparticles decorated on superabsorbent cryogels.

Loo SL, Krantz WB, Hu X, Fane AG, Lim TT.

J Colloid Interface Sci. 2016 Jan 1;461:104-113. doi: 10.1016/j.jcis.2015.09.007. Epub 2015 Sep 5.

PMID:
26397916

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