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Items: 1 to 50 of 978

1.

Depression Rates After Facial Paralysis.

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

Ann Plast Surg. 2019 Jun 20. doi: 10.1097/SAP.0000000000001908. [Epub ahead of print]

PMID:
31232802
2.

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.

3.

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 30. pii: S0885-3924(19)30295-7. doi: 10.1016/j.jpainsymman.2019.05.013. [Epub ahead of print]

PMID:
31153935
4.

Clinician diagnoses of failure to thrive before and after switch to World Health Organization growth curves.

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

Acad Pediatr. 2019 May 22. pii: S1876-2859(19)30253-0. doi: 10.1016/j.acap.2019.05.126. [Epub ahead of print]

PMID:
31128383
5.

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
6.

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.

7.

Sinonasal Disease in Total Laryngectomy Patients.

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

Ann Otol Rhinol Laryngol. 2019 Apr 23:3489419839410. doi: 10.1177/0003489419839410. [Epub ahead of print]

PMID:
31014074
8.

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
9.

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
10.

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.

11.

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.

12.

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
13.

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
14.

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.

15.

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
16.

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.

17.

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]

18.

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
19.

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
20.

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
21.

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
22.

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
23.

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
24.

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.

25.

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.

26.

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.

27.

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.

28.

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
29.

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.

30.

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.

31.

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
32.

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
33.

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.

34.

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
35.

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
36.

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. 2018 Sep 10. doi: 10.1038/s41436-018-0035-3. [Epub ahead of print]

PMID:
30201961
37.

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
38.

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.

39.

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
40.

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
41.

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.

PMID:
30047417
42.

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.

43.

High-Density Lipoprotein Particles, Cell-Cholesterol Efflux, and Coronary Heart Disease Risk.

Asztalos BF, Horvath KV, Schaefer EJ.

Arterioscler Thromb Vasc Biol. 2018 Sep;38(9):2007-2015. doi: 10.1161/ATVBAHA.118.311117.

PMID:
30002062
44.

IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.

Brischoux-Boucher E, Trimouille A, Baujat G, Goldenberg A, Schaefer E, Guichard B, Hannequin P, Paternoster G, Baer S, Cabrol C, Weber E, Godfrin G, Lenoir M, Lacombe D, Collet C, Van Maldergem L.

Clin Genet. 2018 Oct;94(3-4):373-380. doi: 10.1111/cge.13409. Epub 2018 Jul 23.

PMID:
29926465
45.

Macrophage Activation Marker Soluble CD163 Is a Dynamic Marker of Liver Fibrogenesis in Human Immunodeficiency Virus/Hepatitis C Virus Coinfection.

Lidofsky A, Holmes JA, Feeney ER, Kruger AJ, Salloum S, Zheng H, Seguin IS, Altinbas A, Masia R, Corey KE, Gustafson JL, Schaefer EA, Hunt PW, Deeks S, Somsouk M, Chew KW, Chung RT, Alatrakchi N.

J Infect Dis. 2018 Sep 22;218(9):1394-1403. doi: 10.1093/infdis/jiy331.

PMID:
29868909
46.

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.

Mary L, Piton A, Schaefer E, Mattioli F, Nourisson E, Feger C, Redin C, Barth M, El Chehadeh S, Colin E, Coubes C, Faivre L, Flori E, Geneviève D, Capri Y, Perrin L, Fabre-Teste J, Timbolschi D, Verloes A, Olaso R, Boland A, Deleuze JF, Mandel JL, Gerard B, Giurgea I.

Eur J Hum Genet. 2018 Jul;26(7):996-1006. doi: 10.1038/s41431-018-0096-4. Epub 2018 Apr 26.

PMID:
29695756
47.

Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.

Geoffroy V, Stoetzel C, Scheidecker S, Schaefer E, Perrault I, Bär S, Kröll A, Delbarre M, Antin M, Leuvrey AS, Henry C, Blanché H, Decker E, Kloth K, Klaus G, Mache C, Martin-Coignard D, McGinn S, Boland A, Deleuze JF, Friant S, Saunier S, Rozet JM, Bergmann C, Dollfus H, Muller J.

Hum Mutat. 2018 Jul;39(7):983-992. doi: 10.1002/humu.23539. Epub 2018 May 8.

PMID:
29688594
48.

A Placebo-Controlled Phase II Study of Ruxolitinib in Combination With Pemetrexed and Cisplatin for First-Line Treatment of Patients With Advanced Nonsquamous Non-Small-Cell Lung Cancer and Systemic Inflammation.

Giaccone G, Sanborn RE, Waqar SN, Martinez-Marti A, Ponce S, Zhen H, Kennealey G, Erickson-Viitanen S, Schaefer E.

Clin Lung Cancer. 2018 Sep;19(5):e567-e574. doi: 10.1016/j.cllc.2018.03.016. Epub 2018 Mar 23.

PMID:
29681434
49.

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.

Baer S, Afenjar A, Smol T, Piton A, Gérard B, Alembik Y, Bienvenu T, Boursier G, Boute O, Colson C, Cordier MP, Cormier-Daire V, Delobel B, Doco-Fenzy M, Duban-Bedu B, Fradin M, Geneviève D, Goldenberg A, Grelet M, Haye D, Heron D, Isidor B, Keren B, Lacombe D, Lèbre AS, Lesca G, Masurel A, Mathieu-Dramard M, Nava C, Pasquier L, Petit A, Philip N, Piard J, Rondeau S, Saugier-Veber P, Sukno S, Thevenon J, Van-Gils J, Vincent-Delorme C, Willems M, Schaefer E, Morin G.

Clin Genet. 2018 Jul;94(1):141-152. doi: 10.1111/cge.13254. Epub 2018 May 17.

PMID:
29574747
50.

Differential Effects of Estrogen and Progestin on Apolipoprotein B100 and B48 Kinetics in Postmenopausal Women.

Lamon-Fava S, Diffenderfer MR, Barrett PHR, Wan WY, Postfai B, Nartsupha C, Dolnikowski GG, Schaefer EJ.

Lipids. 2018 Feb;53(2):167-175. doi: 10.1002/lipd.12011. Epub 2018 Mar 14.

PMID:
29537647

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