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Items: 1 to 50 of 543

1.

B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.

Staretz-Chacham O, Noyman I, Wormser O, Abu Quider A, Hazan G, Morag I, Hadar N, Raymond K, Birk OS, Ferreira CR, Koifman A.

Clin Genet. 2020 Mar 10. doi: 10.1111/cge.13735. [Epub ahead of print]

PMID:
32157688
2.

Predicting Opioid Use Following Discharge After Cesarean Delivery.

Carrico JA, Mahoney K, Raymond KM, McWilliams SK, Mayes LM, Mikulich-Gilbertson SK, Bartels K.

Ann Fam Med. 2020 Mar;18(2):118-126. doi: 10.1370/afm.2493.

3.

sMutations in the V-ATPase assembly factor VMA21 cause a congenital disorder of glycosylation with autophagic liver disease.

Cannata Serio M, Graham LA, Ashikov A, Larsen LE, Raymond K, Timal S, Le Meur G, Ryan M, Czarnowska E, Jansen JC, He M, Ficicioglu C, Pichurin P, Hasadsri L, Ríos-Ocampo WA, Gilissen C, Rodenburg R, Jonker JW, Holleboom AG, Morava E, Veltman JA, Socha P, Stevens TH, Simons M, Lefeber DJ.

Hepatology. 2020 Mar 7. doi: 10.1002/hep.31218. [Epub ahead of print]

PMID:
32145091
4.

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.

Guenzel AJ, Turgeon CT, Nickander KK, White AL, Peck DS, Pino GB, Studinski AL, Prasad VK, Kurtzberg J, Escolar ML, Lasio MLD, Pellegrino JE, Sakonju A, Hickey RE, Shallow NM, Ream MA, Orsini JJ, Gelb MH, Raymond K, Gavrilov DK, Oglesbee D, Rinaldo P, Tortorelli S, Matern D.

Genet Med. 2020 Feb 24. doi: 10.1038/s41436-020-0764-y. [Epub ahead of print]

PMID:
32089546
5.

Expanding the molecular and clinical phenotypes of FUT8-CDG.

Ng BG, Dastsooz H, Silawi M, Habibzadeh P, Jahan SB, Fard MAF, Halliday BJ, Raymond K, Ruzhnikov MRZ, Tabatabaei Z, Taghipour-Sheshdeh A, Brimble E, Robertson SP, Faghihi MA, Freeze HH.

J Inherit Metab Dis. 2020 Feb 12. doi: 10.1002/jimd.12221. [Epub ahead of print]

PMID:
32049367
6.

Clinical communication preferences in cystic fibrosis and strategies to optimize care.

Cooley L, Hudson J, Potter E, Raymond KF, George C, Georgiopoulos AM.

Pediatr Pulmonol. 2020 Apr;55(4):948-958. doi: 10.1002/ppul.24655. Epub 2020 Jan 24.

PMID:
31977168
7.

A Nanovessel-Catalyzed Three-Component Aza-Darzens Reaction.

Bierschenk SM, Bergman RG, Raymond KN, Toste FD.

J Am Chem Soc. 2020 Jan 15;142(2):733-737. doi: 10.1021/jacs.9b13177. Epub 2020 Jan 7.

PMID:
31909615
8.

Defining a new immune deficiency syndrome: MAN2B2-CDG.

Verheijen J, Wong SY, Rowe JH, Raymond K, Stoddard J, Delmonte OM, Bosticardo M, Dobbs K, Niemela J, Calzoni E, Pai SY, Choi U, Yamazaki Y, Comeau AM, Janssen E, Henderson L, Hazen M, Berry G, Rosenzweig SD, Aldhekri HH, He M, Notarangelo LD, Morava E.

J Allergy Clin Immunol. 2020 Mar;145(3):1008-1011. doi: 10.1016/j.jaci.2019.11.016. Epub 2019 Nov 24. No abstract available.

PMID:
31775018
9.

Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria.

Pino G, Conboy E, Tortorelli S, Minnich S, Nickander K, Lacey J, Peck D, Studinski A, White A, Gavrilov D, Rinaldo P, Matern D, Oglesbee D, Giugliani R, Burin M, Raymond K.

Mol Genet Metab. 2020 Feb;129(2):106-110. doi: 10.1016/j.ymgme.2019.10.009. Epub 2019 Nov 5.

PMID:
31753749
10.

Lymphoblast-derived hiPS cell lines generated from four individuals of a family of genetically unrelated parents and their female monozygotic twins.

Bouma MJ, Freund C, IJzerman AP, Boomsma DI, Mummery CL, Raymond K.

Stem Cell Res. 2019 Dec;41:101654. doi: 10.1016/j.scr.2019.101654. Epub 2019 Nov 8.

11.

Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.

Ravell JC, Matsuda-Lennikov M, Chauvin SD, Zou J, Biancalana M, Deeb SJ, Price S, Su HC, Notarangelo G, Jiang P, Morawski A, Kanellopoulou C, Binder K, Mukherjee R, Anibal JT, Sellers B, Zheng L, He T, George AB, Pittaluga S, Powers A, Kleiner DE, Kapuria D, Ghany M, Hunsberger S, Cohen JI, Uzel G, Bergerson J, Wolfe L, Toro C, Gahl W, Folio LR, Matthews H, Angelus P, Chinn IK, Orange JS, Trujillo-Vargas CM, Franco JL, Orrego-Arango J, Gutiérrez-Hincapié S, Patel NC, Raymond K, Patiroglu T, Unal E, Karakukcu M, Day AG, Mehta P, Masutani E, De Ravin SS, Malech HL, Altan-Bonnet G, Rao VK, Mann M, Lenardo MJ.

J Clin Invest. 2020 Jan 2;130(1):507-522. doi: 10.1172/JCI131116.

12.

A Supramolecular Strategy for Selective Catalytic Hydrogenation Independent of Remote Chain Length.

Bender TA, Bergman RG, Raymond KN, Toste FD.

J Am Chem Soc. 2019 Jul 31;141(30):11806-11810. doi: 10.1021/jacs.9b05604. Epub 2019 Jul 16.

13.

Energy Transfer from Antenna Ligand to Europium(III) Followed Using Ultrafast Optical and X-ray Spectroscopy.

Mara MW, Tatum DS, March AM, Doumy G, Moore EG, Raymond KN.

J Am Chem Soc. 2019 Jul 17;141(28):11071-11081. doi: 10.1021/jacs.9b02792. Epub 2019 Jul 3.

PMID:
31268312
14.

Deciphering the Mammary Stem Cell Niche: A Role for Laminin-Binding Integrins.

Romagnoli M, Cagnet S, Chiche A, Bresson L, Baulande S, de la Grange P, De Arcangelis A, Kreft M, Georges-Labouesse E, Sonnenberg A, Deugnier MA, Raymond K, Glukhova MA, Faraldo MM.

Stem Cell Reports. 2019 May 14;12(5):1178. doi: 10.1016/j.stemcr.2019.04.018. No abstract available.

15.

A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethality.

Balakrishnan B, Verheijen J, Lupo A, Raymond K, Turgeon C, Yang Y, Carter KL, Whitehead KJ, Kozicz T, Morava E, Lai K.

J Inherit Metab Dis. 2019 Sep;42(5):998-1007. doi: 10.1002/jimd.12110. Epub 2019 Jun 21.

PMID:
31077402
16.

Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants.

Gupta A, Ewing SA, Renaud DL, Hasadsri L, Raymond KM, Klee EW, Gavrilova RH.

Clin Case Rep. 2019 Feb 19;7(4):632-637. doi: 10.1002/ccr3.2010. eCollection 2019 Apr.

17.

Opioid and non-opioid utilization at home following gastrointestinal procedures: a prospective cohort study.

Bartels K, Mahoney K, Raymond KM, McWilliams SK, Fernandez-Bustamante A, Schulick R, Hopfer CJ, Mikulich-Gilbertson SK.

Surg Endosc. 2020 Jan;34(1):304-311. doi: 10.1007/s00464-019-06767-1. Epub 2019 Apr 3.

PMID:
30945059
18.

Deciphering the Mammary Stem Cell Niche: A Role for Laminin-Binding Integrins.

Romagnoli M, Cagnet S, Chiche A, Bresson L, Baulande S, de la Grange P, De Arcangelis A, Kreft M, Georges-Labouesse E, Sonnenberg A, Deugnier MA, Raymond K, Glukhova MA, Faraldo MM.

Stem Cell Reports. 2019 Apr 9;12(4):831-844. doi: 10.1016/j.stemcr.2019.02.008. Epub 2019 Mar 21. Erratum in: Stem Cell Reports. 2019 May 14;12(5):1178.

19.

Progressive Decline in Daily and Social Activities: A 9-year Longitudinal Study of Participation in Myotonic Dystrophy Type 1.

Raymond K, Levasseur M, Mathieu J, Gagnon C.

Arch Phys Med Rehabil. 2019 Sep;100(9):1629-1639. doi: 10.1016/j.apmr.2019.01.022. Epub 2019 Mar 2.

PMID:
30831092
20.

Testing helping behavior and its relationship to antisocial personality and psychopathic traits.

Sakai JT, Raymond KM, McWilliams SK, Mikulich-Gilbertson SK.

Psychiatry Res. 2019 Apr;274:98-104. doi: 10.1016/j.psychres.2019.02.022. Epub 2019 Feb 11.

21.

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E.

J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. Erratum in: J Inherit Metab Dis. 2019 May;42(3):577.

PMID:
30740725
22.

Supramolecular Host-Selective Activation of Iodoarenes by Encapsulated Organometallics.

Bender TA, Morimoto M, Bergman RG, Raymond KN, Toste FD.

J Am Chem Soc. 2019 Jan 30;141(4):1701-1706. doi: 10.1021/jacs.8b11842. Epub 2019 Jan 22.

23.

Decreased Expression of Vascular Endothelial Growth Factor Receptor 1 Contributes to the Pathogenesis of Hereditary Hemorrhagic Telangiectasia Type 2.

Thalgott JH, Dos-Santos-Luis D, Hosman AE, Martin S, Lamandé N, Bracquart D, Srun S, Galaris G, de Boer HC, Tual-Chalot S, Kroon S, Arthur HM, Cao Y, Snijder RJ, Disch F, Mager JJ, Rabelink TJ, Mummery CL, Raymond K, Lebrin F.

Circulation. 2018 Dec 4;138(23):2698-2712. doi: 10.1161/CIRCULATIONAHA.117.033062.

PMID:
30571259
24.

The Association of Patient Satisfaction-Based Incentives with Primary Care Physician Opioid Prescribing.

Carrico JA, Mahoney K, Raymond KM, Mims L, Smith PC, Sakai JT, Mikulich-Gilbertson SK, Hopfer CJ, Bartels K.

J Am Board Fam Med. 2018 Nov-Dec;31(6):941-943. doi: 10.3122/jabfm.2018.06.180067.

25.

Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy.

Vidal-Folch N, Gavrilov D, Raymond K, Rinaldo P, Tortorelli S, Matern D, Oglesbee D.

Clin Chem. 2018 Dec;64(12):1753-1761. doi: 10.1373/clinchem.2018.293712. Epub 2018 Oct 23.

PMID:
30352867
26.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K; Undiagnosed Diseases Network; Scottish Genome Partnership, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH.

Am J Hum Genet. 2018 Oct 4;103(4):553-567. doi: 10.1016/j.ajhg.2018.09.003.

27.

Self-Assembled Tetrahedral Hosts as Supramolecular Catalysts.

Hong CM, Bergman RG, Raymond KN, Toste FD.

Acc Chem Res. 2018 Oct 16;51(10):2447-2455. doi: 10.1021/acs.accounts.8b00328. Epub 2018 Oct 1.

PMID:
30272943
28.

Misoprostol vaginal insert versus dinoprostone vaginal insert: A comparison of labour and delivery outcomes.

Rankin K, Chodankar R, Raymond K, Bhaskar S.

Eur J Obstet Gynecol Reprod Biol. 2019 Apr;235:93-96. doi: 10.1016/j.ejogrb.2018.07.025. Epub 2018 Jul 25.

PMID:
30122321
29.

Growth and otolith morphology vary with alternative reproductive tactics and contaminant exposure in the round goby Neogobius melanostomus.

Bose APH, McCallum ES, Raymond K, Marentette JR, Balshine S.

J Fish Biol. 2018 Oct;93(4):674-684. doi: 10.1111/jfb.13756.

PMID:
30043494
30.

Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients.

Duvet S, Mouajjah D, Péanne R, Matthijs G, Raymond K, Jaeken J, Morava E, Foulquier F.

Electrophoresis. 2018 Dec;39(24):3133-3141. doi: 10.1002/elps.201800020. Epub 2018 Aug 2.

PMID:
29947113
31.

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.

Ashikov A, Abu Bakar N, Wen XY, Niemeijer M, Rodrigues Pinto Osorio G, Brand-Arzamendi K, Hasadsri L, Hansikova H, Raymond K, Vicogne D, Ondruskova N, Simon MEH, Pfundt R, Timal S, Beumers R, Biot C, Smeets R, Kersten M, Huijben K; CDG group, Linders PTA, van den Bogaart G, van Hijum SAFT, Rodenburg R, van den Heuvel LP, van Spronsen F, Honzik T, Foulquier F, van Scherpenzeel M, Lefeber DJ; CDG group, Mirjam W, Han B, Helen M, Helen M, Peter VH, Jiddeke VK, Diego M, Lars M, Katja BH, Jozef H, Majid A, Kevin C, Johann TWN.

Hum Mol Genet. 2018 Sep 1;27(17):3029-3045. doi: 10.1093/hmg/ddy213.

PMID:
29878199
32.

Deconvoluting the Role of Charge in a Supramolecular Catalyst.

Hong CM, Morimoto M, Kapustin EA, Alzakhem N, Bergman RG, Raymond KN, Toste FD.

J Am Chem Soc. 2018 May 30;140(21):6591-6595. doi: 10.1021/jacs.8b01701. Epub 2018 May 16.

33.

Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.

Hall PL, Lam C, Alexander JJ, Asif G, Berry GT, Ferreira C, Freeze HH, Gahl WA, Nickander KK, Sharer JD, Watson CM, Wolfe L, Raymond KM.

Mol Genet Metab. 2018 May;124(1):82-86. doi: 10.1016/j.ymgme.2018.03.002. Epub 2018 Mar 10.

PMID:
29550355
34.

Probable Diagnosis of a Patient with Niemann-Pick Disease Type C: Managing Pitfalls of Exome Sequencing.

Zeiger WA, Jamal NI, Scheuner MT, Pittman P, Raymond KM, Morra M, Mishra SK.

JIMD Rep. 2018;41:47-51. doi: 10.1007/8904_2018_90. Epub 2018 Feb 17.

35.

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.

Ng BG, Xu G, Chandy N, Steyermark J, Shinde DN, Radtke K, Raymond K, Lebrilla CB, AlAsmari A, Suchy SF, Powis Z, Faqeih EA, Berry SA, Kronn DF, Freeze HH.

Am J Hum Genet. 2018 Jan 4;102(1):188-195. doi: 10.1016/j.ajhg.2017.12.009.

36.

Associations of hypertensive disorders of pregnancy and outcomes of labor induction with prostaglandin vaginal inserts.

Sheibani L, Raymond K, Rugarn O, Wing DA.

Hypertens Pregnancy. 2018 Feb;37(1):51-57. doi: 10.1080/10641955.2017.1420800. Epub 2018 Jan 1.

PMID:
29291357
37.

Diving Buoyancy.

Raymond KA, Cooper JS.

StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan-.
2020 Feb 17.

38.

The TGFβ pathway is a key player for the endothelial-to-hematopoietic transition in the embryonic aorta.

Lempereur A, Canto PY, Richard C, Martin S, Thalgott J, Raymond K, Lebrin F, Drevon C, Jaffredo T.

Dev Biol. 2018 Feb 15;434(2):292-303. doi: 10.1016/j.ydbio.2017.12.006. Epub 2017 Dec 16.

39.

Cannabis use disorder and male sex predict medical cannabis card status in a sample of high risk adolescents.

Kim J, Coors ME, Young SE, Raymond KM, Hopfer CJ, Wall TL, Corley RP, Brown SA, Sakai JT.

Drug Alcohol Depend. 2018 Feb 1;183:25-33. doi: 10.1016/j.drugalcdep.2017.11.007. Epub 2017 Dec 2.

40.

Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.

Majumdar R, Yori A, Rush PW, Raymond K, Gavrilov D, Tortorelli S, Matern D, Rinaldo P, Feldman GL, Oglesbee D.

Mol Genet Genomic Med. 2017 Nov;5(6):795-799. doi: 10.1002/mgg3.333. Epub 2017 Sep 11.

41.

Precision newborn screening for lysosomal disorders.

Minter Baerg MM, Stoway SD, Hart J, Mott L, Peck DS, Nett SL, Eckerman JS, Lacey JM, Turgeon CT, Gavrilov D, Oglesbee D, Raymond K, Tortorelli S, Matern D, Mørkrid L, Rinaldo P.

Genet Med. 2018 Aug;20(8):847-854. doi: 10.1038/gim.2017.194. Epub 2017 Nov 9.

PMID:
29120458
42.

Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.

Tortorelli S, Eckerman JS, Orsini JJ, Stevens C, Hart J, Hall PL, Alexander JJ, Gavrilov D, Oglesbee D, Raymond K, Matern D, Rinaldo P.

Genet Med. 2018 Aug;20(8):840-846. doi: 10.1038/gim.2017.190. Epub 2017 Nov 2.

PMID:
29095812
43.

Different and Often Opposing Forces Drive the Encapsulation and Multiple Exterior Binding of Charged Guests to a M4 L6 Supramolecular Vessel in Water.

Sgarlata C, Mugridge JS, Pluth MD, Zito V, Arena G, Raymond KN.

Chemistry. 2017 Nov 27;23(66):16813-16818. doi: 10.1002/chem.201703202. Epub 2017 Nov 8.

PMID:
28898458
44.

Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.

Ng BG, Asteggiano CG, Kircher M, Buckingham KJ, Raymond K, Nickerson DA, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics, Ensslen M, Freeze HH.

Am J Med Genet A. 2017 Nov;173(11):2906-2911. doi: 10.1002/ajmg.a.38412. Epub 2017 Aug 29.

45.

A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening.

Vidal-Folch N, Milosevic D, Majumdar R, Gavrilov D, Matern D, Raymond K, Rinaldo P, Tortorelli S, Abraham RS, Oglesbee D.

J Mol Diagn. 2017 Sep;19(5):755-765. doi: 10.1016/j.jmoldx.2017.05.011.

46.

A graduated food addiction classifications approach significantly differentiates depression, anxiety and stress among people with type 2 diabetes.

Raymond KL, Kannis-Dymand L, Lovell GP.

Diabetes Res Clin Pract. 2017 Oct;132:95-101. doi: 10.1016/j.diabres.2017.07.028. Epub 2017 Jul 29.

PMID:
28826026
47.

A graduated food addiction classification approach significantly differentiates obesity among people with type 2 diabetes.

Raymond KL, Kannis-Dymand L, Lovell GP.

J Health Psychol. 2018 Dec;23(14):1781-1789. doi: 10.1177/1359105316672096. Epub 2016 Oct 9.

PMID:
28810357
48.

Scuba Diving.

Raymond KA, Cooper JS.

StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan-.
2020 Feb 8.

49.

Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.

Wang N, Zhang Y, Gedvilaite E, Loh JW, Lin T, Liu X, Liu CG, Kumar D, Donnelly R, Raymond K, Schuchman EH, Sleat DE, Lobel P, Xing J.

Hum Mutat. 2017 Nov;38(11):1491-1499. doi: 10.1002/humu.23291. Epub 2017 Jul 25.

PMID:
28703315
50.

Children's brain activation during risky decision-making: A contributor to substance problems?

Crowley TJ, Dalwani MS, Sakai JT, Raymond KM, McWilliams SK, Banich MT, Mikulich-Gilbertson SK.

Drug Alcohol Depend. 2017 Sep 1;178:57-65. doi: 10.1016/j.drugalcdep.2017.02.028. Epub 2017 Jun 4.

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