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Items: 1 to 50 of 986

1.

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.

Balak C, Benard M, Schaefer E, Iqbal S, Ramsey K, Ernoult-Lange M, Mattioli F, Llaci L, Geoffroy V, Courel M, Naymik M, Bachman KK, Pfundt R, Rump P, Ter Beest J, Wentzensen IM, Monaghan KG, McWalter K, Richholt R, Le Béchec A, Jepsen W, De Both M, Belnap N, Boland A, Piras IS, Deleuze JF, Szelinger S, Dollfus H, Chelly J, Muller J, Campbell A, Lal D, Rangasamy S, Mandel JL, Narayanan V, Huentelman M, Weil D, Piton A.

Am J Hum Genet. 2019 Aug 5. pii: S0002-9297(19)30273-3. doi: 10.1016/j.ajhg.2019.07.010. [Epub ahead of print]

PMID:
31422817
2.

Outcomes of Cadaveric Allograft versus Autologous Cartilage Graft in Functional Septorhinoplasty.

Saadi R, Loloi J, Schaefer E, Lighthall JG.

Otolaryngol Head Neck Surg. 2019 Aug 6:194599819866812. doi: 10.1177/0194599819866812. [Epub ahead of print]

PMID:
31385746
3.

Effects of weight change on apolipoprotein B-containing emerging atherosclerotic cardiovascular disease (ASCVD) risk factors.

Dansinger ML, Williams PT, Superko HR, Schaefer EJ.

Lipids Health Dis. 2019 Jul 17;18(1):154. doi: 10.1186/s12944-019-1094-4.

4.

Post-Tonsillectomy Outcomes in Children With and Without Narcotics Prescriptions.

Carr MM, Schaefer EW, Schubart JR.

Ear Nose Throat J. 2019 Jul 14:145561319859303. doi: 10.1177/0145561319859303. [Epub ahead of print]

PMID:
31304781
5.

Papillomavirus DNA not detected in canine lobular orbital adenoma and normal conjunctival tissue.

Schaefer EAF, Chu S, Pearce JW, Bryan JN, Flesner BK.

BMC Vet Res. 2019 Jul 5;15(1):226. doi: 10.1186/s12917-019-1971-0.

6.

Safety profiling of genetically engineered Pim-1 kinase overexpression for oncogenicity risk in human c-kit+ cardiac interstitial cells.

Broughton K, Korski K, Echeagaray O, Adamson R, Dembitsky W, Lu Z, Schaefer E, Sussman MA.

Gene Ther. 2019 Aug;26(7-8):324-337. doi: 10.1038/s41434-019-0084-5. Epub 2019 Jun 25.

PMID:
31239537
7.

Direct Versus Calculated LDL Cholesterol and C-Reactive Protein in Cardiovascular Disease Risk Assessment in the Framingham Offspring Study.

Ikezaki H, Fisher VA, Lim E, Ai M, Liu CT, Cupples LA, Nakajima K, Asztalos BF, Furusyo N, Schaefer EJ.

Clin Chem. 2019 Jun 25. pii: clinchem.2019.304600. doi: 10.1373/clinchem.2019.304600. [Epub ahead of print]

PMID:
31239251
8.

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.

Bizaoui V, Michot C, Baujat G, Amouroux C, Baron S, Capri Y, Cohen-Solal M, Collet C, Dieux A, Geneviève D, Isidor B, Monnot S, Rossi M, Rothenbuhler A, Schaefer E, Cormier-Daire V.

Clin Genet. 2019 Jun 25. doi: 10.1111/cge.13591. [Epub ahead of print]

PMID:
31237352
9.

Depression Rates After Facial Paralysis.

Saadi R, Shokri T, Schaefer E, Hollenbeak C, Lighthall JG.

Ann Plast Surg. 2019 Aug;83(2):190-194. doi: 10.1097/SAP.0000000000001908.

PMID:
31232802
10.

A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.

Laugel-Haushalter V, Bär S, Schaefer E, Stoetzel C, Geoffroy V, Alembik Y, Kharouf N, Huckert M, Hamm P, Hemmerlé J, Manière MC, Friant S, Dollfus H, Bloch-Zupan A.

Front Genet. 2019 May 28;10:504. doi: 10.3389/fgene.2019.00504. eCollection 2019.

11.

Use of Cluster Analysis to Delineate Symptom Profiles in Ehlers-Danlos Syndrome Patient Population.

Schubart JR, Schaefer E, Hakim AJ, Francomano CA, Bascom R.

J Pain Symptom Manage. 2019 May 31. pii: S0885-3924(19)30295-7. doi: 10.1016/j.jpainsymman.2019.05.013. [Epub ahead of print]

PMID:
31153935
12.

Clinician Diagnoses of Failure to Thrive Before and After Switch to World Health Organization Growth Curves.

Daymont C, Hoffman N, Schaefer EW, Fiks AG.

Acad Pediatr. 2019 May 23. pii: S1876-2859(19)30253-0. doi: 10.1016/j.acap.2019.05.126. [Epub ahead of print]

PMID:
31128383
13.

Case 15-2019: A 55-Year-Old Man with Jaundice.

Schaefer EA, Anderson MA, Kim AY, Sfeir MM.

N Engl J Med. 2019 May 16;380(20):1955-1963. doi: 10.1056/NEJMcpc1900592. No abstract available.

PMID:
31091378
14.

The Impact of Preconceptional Multiple-Micronutrient Supplementation on Female Fertility.

Schaefer E, Nock D.

Clin Med Insights Womens Health. 2019 Apr 23;12:1179562X19843868. doi: 10.1177/1179562X19843868. eCollection 2019. Review.

15.

Sinonasal Disease in Total Laryngectomy Patients.

Patel VA, Pool CD, Dunklebarger M, Schaefer E, Goyal N.

Ann Otol Rhinol Laryngol. 2019 Sep;128(9):811-818. doi: 10.1177/0003489419839410. Epub 2019 Apr 23.

PMID:
31014074
16.

Association Between Hospitals' Risk-Adjusted Emergency Department Visits and Survival and Costs in Kidney Cancer Patients Undergoing Nephrectomy.

Segel JE, Schaefer EW, Raman JD, Hollenbeak CS.

Clin Genitourin Cancer. 2019 Jun;17(3):e650-e657. doi: 10.1016/j.clgc.2019.03.013. Epub 2019 Mar 27.

PMID:
31000485
17.

Intermediate autosomal recessive osteopetrosis with a large noncoding deletion in SNX10: A case report.

Baer S, Schaefer É, Michot C, Fischbach M, Morelle G, Bendavid M, Castelle M, Moshous D, Collet C.

Pediatr Blood Cancer. 2019 Jul;66(7):e27751. doi: 10.1002/pbc.27751. Epub 2019 Apr 12. No abstract available.

PMID:
30977576
18.

Microrna-130a Downregulates HCV Replication through an atg5-Dependent Autophagy Pathway.

Duan X, Liu X, Li W, Holmes JA, Kruger AJ, Yang C, Li Y, Xu M, Ye H, Li S, Liao X, Sheng Q, Chen D, Shao T, Cheng Z, Kaj B, Schaefer EA, Li S, Chen L, Lin W, Chung RT.

Cells. 2019 Apr 10;8(4). pii: E338. doi: 10.3390/cells8040338.

19.

First international descriptive and interventional survey for cholesterol and non-cholesterol sterol determination by gas- and liquid-chromatography-Urgent need for harmonisation of analytical methods.

Lütjohann D, Björkhem I, Friedrichs S, Kerksiek A, Lövgren-Sandblom A, Geilenkeuser WJ, Ahrends R, Andrade I, Ansorena D, Astiasarán I, Baila-Rueda L, Barriuso B, Becker S, Bretillon L, Browne RW, Caccia C, Ceglarek U, Cenarro A, Crick PJ, Fauler G, Garcia-Llatas G, Gray R, Griffiths WJ, Gylling H, Harding S, Helmschrodt C, Iuliano L, Janssen HG, Jones P, Kaipiainen L, Kannenberg F, Lagarda MJ, Leoni V, Lottenberg AM, MacKay DS, Matysik S, McDonald J, Menendez-Carreño M, Myrie SB, Sutti Nunes V, Ostlund RE, Polisecki E, Ramos F, Rideout TC, Schaefer EJ, Schmitz G, Wang Y, Zerbinati C, Diczfalusy U, Schött HF.

J Steroid Biochem Mol Biol. 2019 Jun;190:115-125. doi: 10.1016/j.jsbmb.2019.03.025. Epub 2019 Mar 30.

20.

The Possibility of Early Discharge for Newborns Being Monitored for Neonatal Abstinence Syndrome Based on Modified Finnegan Score Distributions.

Oji-Mmuo CN, Schaefer EW, Liao L, Kaiser JR, Sekhar DL.

Clin Pediatr (Phila). 2019 Jun;58(6):641-646. doi: 10.1177/0009922819832022. Epub 2019 Feb 27.

PMID:
30813757
21.

Postoperative hyperglycemia in patients undergoing cytoreductive surgery and HIPEC: A cohort study.

DiSano JA, Wischhusen J, Schaefer EW, Dessureault S, Wong J, Soybel DI, Pameijer CR.

Int J Surg. 2019 Apr;64:5-9. doi: 10.1016/j.ijsu.2019.02.005. Epub 2019 Feb 15.

PMID:
30772524
22.

Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome.

Schaefer E, Delvallée C, Mary L, Stoetzel C, Geoffroy V, Marks-Delesalle C, Holder-Espinasse M, Ghoumid J, Dollfus H, Muller J.

Front Genet. 2019 Jan 30;10:21. doi: 10.3389/fgene.2019.00021. eCollection 2019.

23.

The importance of cholesterol follow-up testing under current statin treatment guidelines.

Dansinger ML, Williams PT, Superko HR, Schaefer EJ.

Prev Med. 2019 Apr;121:150-157. doi: 10.1016/j.ypmed.2019.02.003. Epub 2019 Feb 8.

PMID:
30742874
24.

Presence of Kalicephalus subulatus Molin, 1861 (Nematoda, Diaphanocephalidae) in Wagler’s snake, Xenodon merremi from Argentina

González CE, Schaefer EF, Duré MI.

Ann Parasitol. 2018;64(4):399–405. doi: 10.17420/ap6404.177.

25.

Lipoprotein Subfractions and Glucose Homeostasis in Prediabetes and Diabetes in Taiwan.

Hsu H, Hsu P, Cheng MH, Ito Y, Kanda E, Schaefer EJ, Ai M.

J Atheroscler Thromb. 2019 Feb 7. doi: 10.5551/jat.48330. [Epub ahead of print]

26.

The biochemical and genetic diagnosis of lipid disorders.

Schaefer EJ, Geller AS, Endress G.

Curr Opin Lipidol. 2019 Apr;30(2):56-62. doi: 10.1097/MOL.0000000000000590.

PMID:
30720493
27.

Effects of weight change on HDL-cholesterol and its subfractions in over 28,000 men and women.

Dansinger M, Williams PT, Superko HR, Asztalos BF, Schaefer EJ.

J Clin Lipidol. 2019 Mar - Apr;13(2):308-316. doi: 10.1016/j.jacl.2018.12.001. Epub 2018 Dec 18.

PMID:
30665769
28.

Truven Health Analytics MarketScan Databases for Clinical Research in Colon and Rectal Surgery.

Kulaylat AS, Schaefer EW, Messaris E, Hollenbeak CS.

Clin Colon Rectal Surg. 2019 Jan;32(1):54-60. doi: 10.1055/s-0038-1673354. Epub 2019 Jan 8. Review.

PMID:
30647546
29.

Use of prescription opioid and other drugs among a cohort of persons with Ehlers-Danlos syndrome: A retrospective study.

Schubart JR, Schilling A, Schaefer E, Bascom R, Francomano C.

Am J Med Genet A. 2019 Mar;179(3):397-403. doi: 10.1002/ajmg.a.61031. Epub 2019 Jan 9.

PMID:
30624009
30.

Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

Mary L, Chennen K, Stoetzel C, Antin M, Leuvrey A, Nourisson E, Alanio-Detton E, Antal MC, Attié-Bitach T, Bouvagnet P, Bouvier R, Buenerd A, Clémenson A, Devisme L, Gasser B, Gilbert-Dussardier B, Guimiot F, Khau Van Kien P, Leroy B, Loget P, Martinovic J, Pelluard F, Perez MJ, Petit F, Pinson L, Rooryck-Thambo C, Poch O, Dollfus H, Schaefer E, Muller J.

Clin Genet. 2019 Mar;95(3):384-397. doi: 10.1111/cge.13500.

PMID:
30614526
31.

Delayed Pharyngeal Migration of a Mandibular Fixation Screw 30 Years After Orthognathic Surgery.

Cheng E, Schaefer E, Charous S.

J Oral Maxillofac Surg. 2019 Mar;77(3):640.e1-640.e5. doi: 10.1016/j.joms.2018.11.014. Epub 2018 Nov 26.

PMID:
30576667
32.

Escherichia coli NGF-1, a Genetically Tractable, Efficiently Colonizing Murine Gut Isolate.

Ziesack M, Karrenbelt MAP, Bues J, Schaefer E, Silver P, Way J.

Microbiol Resour Announc. 2018 Dec 6;7(22). pii: e01416-18. doi: 10.1128/MRA.01416-18. eCollection 2018 Dec.

33.

Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.

Vegas N, Cavallin M, Maillard C, Boddaert N, Toulouse J, Schaefer E, Lerman-Sagie T, Lev D, Magalie B, Moutton S, Haan E, Isidor B, Heron D, Milh M, Rondeau S, Michot C, Valence S, Wagner S, Hully M, Mignot C, Masurel A, Datta A, Odent S, Nizon M, Lazaro L, Vincent M, Cogné B, Guerrot AM, Arpin S, Pedespan JM, Caubel I, Pontier B, Troude B, Rivier F, Philippe C, Bienvenu T, Spitz MA, Bery A, Bahi-Buisson N.

Neurol Genet. 2018 Nov 7;4(6):e281. doi: 10.1212/NXG.0000000000000281. eCollection 2018 Dec.

34.

Anatomical and functional abnormalities on MRI in kabuki syndrome.

Boisgontier J, Tacchella JM, Lemaître H, Lehman N, Saitovitch A, Gatinois V, Boursier G, Sanchez E, Rechtman E, Fillon L, Lyonnet S, Le Quang Sang KH, Baujat G, Rio M, Boute O, Faivre L, Schaefer E, Sanlaville D, Zilbovicius M, Grévent D, Geneviève D, Boddaert N.

Neuroimage Clin. 2019;21:101610. doi: 10.1016/j.nicl.2018.11.020. Epub 2018 Nov 19.

35.

Trends in low-density lipoprotein-cholesterol blood values between 2012 and 2017 suggest sluggish adoption of the recent 2013 treatment guidelines.

Superko HR, Williams PT, Dansinger M, Schaefer E.

Clin Cardiol. 2019 Jan;42(1):101-110. doi: 10.1002/clc.23115. Epub 2018 Nov 30.

36.

Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient.

Vuillaumier-Barrot S, Schiff M, Mattioli F, Schaefer E, Dupont A, Dancourt J, Dupré T, Couvineau A, de Baulny HO, de Lonlay P, Seta N, Moore S, Chantret I.

Pediatr Res. 2019 Feb;85(3):384-389. doi: 10.1038/s41390-018-0231-5. Epub 2018 Nov 12.

PMID:
30420707
37.

Growth during the first year in infants affected by neonatal abstinence syndrome.

Corr TE, Schaefer EW, Paul IM.

BMC Pediatr. 2018 Nov 5;18(1):343. doi: 10.1186/s12887-018-1327-0.

38.

Investigation of an experimental infection model of equine coronavirus in adult horses.

Schaefer E, Harms C, Viner M, Barnum S, Pusterla N.

J Vet Intern Med. 2018 Nov;32(6):2099-2104. doi: 10.1111/jvim.15318. Epub 2018 Oct 24.

39.

Extreme hypertriglyceridemia: Genetic diversity, pancreatitis, pregnancy, and prevalence.

Chyzhyk V, Kozmic S, Brown AS, Hudgins LC, Starc TJ, Davila AD, Blevins TC, Diffenderfer MR, He L, Geller AS, Rush C, Hegele RA, Schaefer EJ.

J Clin Lipidol. 2019 Jan - Feb;13(1):89-99. doi: 10.1016/j.jacl.2018.09.007. Epub 2018 Sep 18.

PMID:
30352774
40.

Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Geller AS, Polisecki EY, Diffenderfer MR, Asztalos BF, Karathanasis SK, Hegele RA, Schaefer EJ.

J Lipid Res. 2018 Dec;59(12):2421-2435. doi: 10.1194/jlr.M088203. Epub 2018 Oct 17.

PMID:
30333156
41.

Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes.

Collet C, Ostertag A, Ricquebourg M, Delecourt M, Tueur G, Isidor B, Guillot P, Schaefer E, Javier RM, Funck-Brentano T, Orcel P, Laplanche JL, Cohen-Solal M.

JBMR Plus. 2017 Nov 6;2(1):12-21. doi: 10.1002/jbm4.10020. eCollection 2018 Jan.

42.

Pregnancy after a melanoma diagnosis in women in the United States.

DiSano JA, Schaefer EW, Kjerulff K, Hollenbeak CS, Pameijer CR.

J Surg Res. 2018 Nov;231:133-139. doi: 10.1016/j.jss.2018.05.026. Epub 2018 Jun 17.

PMID:
30278920
43.

Unusual genetic variants associated with hypercholesterolemia in Argentina.

Corral P, Geller AS, Polisecki EY, Lopez GI, Bañares VG, Cacciagiu L, Berg G, Hegele RA, Schaefer EJ, Schreier LE.

Atherosclerosis. 2018 Oct;277:256-261. doi: 10.1016/j.atherosclerosis.2018.06.009.

PMID:
30270055
44.

Correction: Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Baena N, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins Ii TR, Taylor A, Davis EC, Zarate Y, Callewaert B.

Genet Med. 2019 Aug;21(8):1894-1895. doi: 10.1038/s41436-018-0035-3.

PMID:
30201961
45.

A Long Noncoding RNA Regulates Hepatitis C Virus Infection Through Interferon Alpha-Inducible Protein 6.

Liu X, Duan X, Holmes JA, Li W, Lee SH, Tu Z, Zhu C, Salloum S, Lidofsky A, Schaefer EA, Cai D, Li S, Wang H, Huang Y, Zhao Y, Yu ML, Xu Z, Chen L, Hong J, Lin W, Chung RT.

Hepatology. 2019 Mar;69(3):1004-1019. doi: 10.1002/hep.30266. Epub 2019 Feb 13.

PMID:
30199576
46.

Unilateral Multifocal Intraocular Lens Implantation in a Patient with Adie's Pupil.

LoBue SA, Mano F, Schaefer E, LoBue TD.

Case Rep Ophthalmol. 2018 Aug 9;9(2):369-374. doi: 10.1159/000492106. eCollection 2018 May-Aug.

47.

Ancillary medications and outcomes in post-tonsillectomy patients.

O'Connell Ferster AP, Schaefer E, Schubart JR, Carr MM.

Ear Nose Throat J. 2018 Aug;97(8):E19-E24.

PMID:
30138521
48.

Abemaciclib in Combination with Single-Agent Options in Patients with Stage IV Non-Small Cell Lung Cancer: A Phase Ib Study.

Kim ES, Kelly K, Paz-Ares LG, Garrido P, Jalal S, Mahadevan D, Gutierrez M, Provencio M, Schaefer E, Shaheen M, Johnston EL, Turner PK, Kambhampati SRP, Beckmann R, Hossain A, John WJ, Goldman JW.

Clin Cancer Res. 2018 Nov 15;24(22):5543-5551. doi: 10.1158/1078-0432.CCR-18-0651. Epub 2018 Aug 6.

PMID:
30082474
49.

Significance of Clonal Mutations in Bone Marrow Failure and Inherited Myelodysplastic Syndrome/Acute Myeloid Leukemia Predisposition Syndromes.

Schaefer EJ, Lindsley RC.

Hematol Oncol Clin North Am. 2018 Aug;32(4):643-655. doi: 10.1016/j.hoc.2018.03.005. Epub 2018 May 1. Review.

50.

Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis.

Duell PB, Salen G, Eichler FS, DeBarber AE, Connor SL, Casaday L, Jayadev S, Kisanuki Y, Lekprasert P, Malloy MJ, Ramdhani RA, Ziajka PE, Quinn JF, Su KG, Geller AS, Diffenderfer MR, Schaefer EJ.

J Clin Lipidol. 2018 Sep - Oct;12(5):1169-1178. doi: 10.1016/j.jacl.2018.06.008. Epub 2018 Jun 22.

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