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Items: 1 to 50 of 951

1.

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. 2018 Nov 12. doi: 10.1038/s41390-018-0231-5. [Epub ahead of print]

PMID:
30420707
2.

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.

3.

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 Oct 24. doi: 10.1111/jvim.15318. [Epub ahead of print]

4.

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. 2018 Sep 18. pii: S1933-2874(18)30405-7. doi: 10.1016/j.jacl.2018.09.007. [Epub ahead of print]

PMID:
30352774
5.

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 Oct 17. pii: jlr.M088203. doi: 10.1194/jlr.M088203. [Epub ahead of print]

6.

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.

7.

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
8.

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
9.

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
10.

A novel lncRNA regulates HCV infection through IFI6.

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

Hepatology. 2018 Sep 10. doi: 10.1002/hep.30266. [Epub ahead of print]

PMID:
30199576
11.

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.

12.

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
13.

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 Aug 6. doi: 10.1158/1078-0432.CCR-18-0651. [Epub ahead of print]

PMID:
30082474
14.

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
15.

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.

16.

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
17.

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
18.

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
19.

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
20.

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
21.

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
22.

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
23.

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
24.

Bilateral retinoschisis in a dog: A veterinary clinical application for optical coherence tomography.

Schaefer EAF, Whiting REH, Pearce JW, Grahn BH, Hamm CW, Moore CP, Narfström KL.

Vet Ophthalmol. 2018 Nov;21(6):668-674. doi: 10.1111/vop.12557. Epub 2018 Mar 8.

PMID:
29517158
25.

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients.

Lefebvre M, Dieux-Coeslier A, Baujat G, Schaefer E, Judith SO, Bazin A, Pinson L, Attie-Bitach T, Baumann C, Fradin M, Pierquin G, Julia S, Quélin C, Doray B, Berg S, Vincent-Delorme C, Lambert L, Bachmann N, Lacombe D, Isidor B, Laurent N, Joelle R, Blanchet P, Odent S, Kervran D, Leporrier N, Abel C, Segers K, Guiliano F, Ginglinger-Fabre E, Selicorni A, Goldenberg A, El Chehadeh S, Francannet C, Demeer B, Duffourd Y, Thauvin-Robinet C, Verloes A, Cormier-Daire V, Riviere JB, Faivre L, Thevenon J.

J Med Genet. 2018 Jun;55(6):422-429. doi: 10.1136/jmedgenet-2017-104939. Epub 2018 Feb 19.

PMID:
29459493
26.

Intermittent hypoxia is a proinflammatory stimulus resulting in IL-6 expression and M1 macrophage polarization.

Schaefer E, Wu W, Mark C, Yang A, DiGiacomo E, Carlton-Smith C, Salloum S, Brisac C, Lin W, Corey KE, Chung RT.

Hepatol Commun. 2017 May 18;1(4):326-337. doi: 10.1002/hep4.1045. eCollection 2017 Jun.

27.

A new flesh fly species (Diptera: Sarcophagidae) parasitic on leptodactylid frogs.

Mulieri PR, Schaefer EF, Duré MI, González CE.

Parasitol Res. 2018 Mar;117(3):809-818. doi: 10.1007/s00436-018-5755-4. Epub 2018 Jan 17.

PMID:
29340784
28.

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, Diéz NB, 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 TR, Taylor A, Davis EC, Zarate Y, Callewaert B.

Genet Med. 2018 Jan 11. doi: 10.1038/gim.2017.253. [Epub ahead of print] Erratum in: Genet Med. 2018 Sep 10;:.

PMID:
29323665
29.

MicroRNA 130a Regulates both Hepatitis C Virus and Hepatitis B Virus Replication through a Central Metabolic Pathway.

Duan X, Li S, Holmes JA, Tu Z, Li Y, Cai D, Liu X, Li W, Yang C, Jiao B, Schaefer EA, Fusco DN, Salloum S, Chen L, Lin W, Chung RT.

J Virol. 2018 Mar 14;92(7). pii: e02009-17. doi: 10.1128/JVI.02009-17. Print 2018 Apr 1.

30.

Defining the phenotypic spectrum of SLC6A1 mutations.

Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL 2nd, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS.

Epilepsia. 2018 Feb;59(2):389-402. doi: 10.1111/epi.13986. Epub 2018 Jan 8.

PMID:
29315614
31.

Postoperative narcotic use is associated with development of clinically relevant pancreatic fistulas after distal pancreatectomy.

Kowalsky SJ, Zenati MS, Dhir M, Schaefer EG, Dopsovic A, Lee KK, Hogg ME, Zeh HJ, Vollmer CM, Zureikat AH.

Surgery. 2018 Apr;163(4):747-752. doi: 10.1016/j.surg.2017.10.042. Epub 2017 Dec 18.

PMID:
29269087
32.

Autosomal recessive primary microcephaly due to ASPM mutations: An update.

Létard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francannet C, Geneviève D, Gérard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Bergès M, Benzacken B, Wollnick B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S.

Hum Mutat. 2018 Mar;39(3):319-332. doi: 10.1002/humu.23381. Epub 2018 Jan 16.

PMID:
29243349
33.

HDL Particle Measurement: Comparison of 5 Methods.

Matera R, Horvath KV, Nair H, Schaefer EJ, Asztalos BF.

Clin Chem. 2018 Mar;64(3):492-500. doi: 10.1373/clinchem.2017.277632. Epub 2017 Dec 4.

PMID:
29203475
34.

Health Care Utilization in the First Month After Birth and Its Relationship to Newborn Weight Loss and Method of Feeding.

Flaherman V, Schaefer EW, Kuzniewicz MW, Li SX, Walsh EM, Paul IM.

Acad Pediatr. 2018 Aug;18(6):677-684. doi: 10.1016/j.acap.2017.11.005. Epub 2017 Dec 2.

PMID:
29191700
35.

The association between hypercholesterolemia and sitosterolemia, and report of a sitosterolemia kindred.

Brinton EA, Hopkins PN, Hegele RA, Geller AS, Polisecki EY, Diffenderfer MR, Schaefer EJ.

J Clin Lipidol. 2018 Jan - Feb;12(1):152-161. doi: 10.1016/j.jacl.2017.10.013. Epub 2017 Oct 27.

PMID:
29169939
36.

Optimizing performance of semi-continuous cell culture in an ambr15™ microbioreactor using dynamic flux balance modeling.

Kelly W, Veigne S, Li X, Subramanian SS, Huang Z, Schaefer E.

Biotechnol Prog. 2018 Mar;34(2):420-431. doi: 10.1002/btpr.2585. Epub 2017 Nov 30.

PMID:
29152911
37.

Highly active spore biocatalyst by self-assembly of co-expressed anchoring scaffoldin and multimeric enzyme.

Chen L, Holmes M, Schaefer E, Mulchandani A, Ge X.

Biotechnol Bioeng. 2018 Mar;115(3):557-564. doi: 10.1002/bit.26492. Epub 2017 Nov 22.

PMID:
29131302
38.

Xenosterolemia: emerging molecular and clinical insights.

Kane J, Schaefer E, Malloy M.

Curr Opin Lipidol. 2017 Dec;28(6):518-519. doi: 10.1097/MOL.0000000000000463. No abstract available.

PMID:
29095365
39.

The Role of Proteomic Testing in Improving Prognosis And Care Planning Quality Measures for Lung Cancer.

Page RD, Argento AC, Nash DB, Skoufalos A, Schaefer ES.

Manag Care. 2017 Sep;26(9):37-47. Review.

40.

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Ivanova EL, Mau-Them FT, Riazuddin S, Kahrizi K, Laugel V, Schaefer E, de Saint Martin A, Runge K, Iqbal Z, Spitz MA, Laura M, Drouot N, Gérard B, Deleuze JF, de Brouwer APM, Razzaq A, Dollfus H, Assir MZ, Nitchké P, Hinckelmann MV, Ropers H, Riazuddin S, Najmabadi H, van Bokhoven H, Chelly J.

Am J Hum Genet. 2017 Sep 7;101(3):428-440. doi: 10.1016/j.ajhg.2017.07.010. Epub 2017 Aug 17.

41.

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

Bourchany A, Thauvin-Robinet C, Lehalle D, Bruel AL, Masurel-Paulet A, Jean N, Nambot S, Willems M, Lambert L, El Chehadeh-Djebbar S, Schaefer E, Jaquette A, St-Onge J, Poe C, Jouan T, Chevarin M, Callier P, Mosca-Boidron AL, Laurent N, Lefebvre M, Huet F, Houcinat N, Moutton S, Philippe C, Tran-Mau-Them F, Vitobello A, Kuentz P, Duffourd Y, Rivière JB, Thevenon J, Faivre L.

Eur J Med Genet. 2017 Nov;60(11):595-604. doi: 10.1016/j.ejmg.2017.08.011. Epub 2017 Aug 12.

PMID:
28807864
42.

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.

Biancalana V, Scheidecker S, Miguet M, Laquerrière A, Romero NB, Stojkovic T, Abath Neto O, Mercier S, Voermans N, Tanner L, Rogers C, Ollagnon-Roman E, Roper H, Boutte C, Ben-Shachar S, Lornage X, Vasli N, Schaefer E, Laforet P, Pouget J, Moerman A, Pasquier L, Marcorelle P, Magot A, Küsters B, Streichenberger N, Tranchant C, Dondaine N, Schneider R, Gasnier C, Calmels N, Kremer V, Nguyen K, Perrier J, Kamsteeg EJ, Carlier P, Carlier RY, Thompson J, Boland A, Deleuze JF, Fardeau M, Zanoteli E, Eymard B, Laporte J.

Acta Neuropathol. 2017 Dec;134(6):889-904. doi: 10.1007/s00401-017-1748-0. Epub 2017 Jul 6.

PMID:
28685322
43.

Higher dietary cholesterol and ω-3 fatty acid intakes are associated with a lower success rate of Helicobacter pylori eradication therapy in Japan.

Ikezaki H, Furusyo N, Jacques PF, Shimizu M, Murata M, Schaefer EJ, Urita Y, Hayashi J.

Am J Clin Nutr. 2017 Aug;106(2):581-588. doi: 10.3945/ajcn.116.144873. Epub 2017 Jun 28.

PMID:
28659302
44.

Association of Preoperative Anti-Tumor Necrosis Factor Therapy With Adverse Postoperative Outcomes in Patients Undergoing Abdominal Surgery for Ulcerative Colitis.

Kulaylat AS, Kulaylat AN, Schaefer EW, Tinsley A, Williams E, Koltun W, Hollenbeak CS, Messaris E.

JAMA Surg. 2017 Aug 16;152(8):e171538. doi: 10.1001/jamasurg.2017.1538. Epub 2017 Aug 16.

45.

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

Le Gall J, Nizon M, Pichon O, Andrieux J, Audebert-Bellanger S, Baron S, Beneteau C, Bilan F, Boute O, Busa T, Cormier-Daire V, Ferec C, Fradin M, Gilbert-Dussardier B, Jaillard S, Jønch A, Martin-Coignard D, Mercier S, Moutton S, Rooryck C, Schaefer E, Vincent M, Sanlaville D, Le Caignec C, Jacquemont S, David A, Isidor B.

Eur J Hum Genet. 2017 Aug;25(8):930-934. doi: 10.1038/ejhg.2017.93. Epub 2017 Jun 14.

46.

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

Heidet L, Morinière V, Henry C, De Tomasi L, Reilly ML, Humbert C, Alibeu O, Fourrage C, Bole-Feysot C, Nitschké P, Tores F, Bras M, Jeanpierre M, Pietrement C, Gaillard D, Gonzales M, Novo R, Schaefer E, Roume J, Martinovic J, Malan V, Salomon R, Saunier S, Antignac C, Jeanpierre C.

J Am Soc Nephrol. 2017 Oct;28(10):2901-2914. doi: 10.1681/ASN.2017010043. Epub 2017 May 31.

47.

Cardiovascular disease prevalence and insulin resistance in the Kyushu-Okinawa Population Study and the Framingham Offspring Study.

Ikezaki H, Ai M, Schaefer EJ, Otokozawa S, Asztalos BF, Nakajima K, Zhou Y, Liu CT, Jacques PF, Cupples LA, Furusyo N.

J Clin Lipidol. 2017 Mar - Apr;11(2):348-356. doi: 10.1016/j.jacl.2017.01.014. Epub 2017 Feb 3.

PMID:
28502490
48.

Risk-Based Questionnaires Fail to Detect Adolescent Iron Deficiency and Anemia.

Sekhar DL, Murray-Kolb LE, Schaefer EW, Paul IM.

J Pediatr. 2017 Aug;187:194-199.e1. doi: 10.1016/j.jpeds.2017.04.007. Epub 2017 May 9.

PMID:
28499716
49.

Influence of HDL particles on cell-cholesterol efflux under various pathological conditions.

Asztalos BF, Horvath KV, Mehan M, Yokota Y, Schaefer EJ.

J Lipid Res. 2017 Jun;58(6):1238-1246. doi: 10.1194/jlr.M075648. Epub 2017 Apr 18.

50.

The preprophase band of microtubules controls the robustness of division orientation in plants.

Schaefer E, Belcram K, Uyttewaal M, Duroc Y, Goussot M, Legland D, Laruelle E, de Tauzia-Moreau ML, Pastuglia M, Bouchez D.

Science. 2017 Apr 14;356(6334):186-189. doi: 10.1126/science.aal3016.

PMID:
28408602

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