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Items: 1 to 50 of 822

1.

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.

Bedoyan JK, Hecht L, Zhang S, Tarrant S, Bergin A, Demirbas D, Yang E, Shin HK, Grahame GJ, DeBrosse SD, Hoppel CL, Kerr DS, Berry GT.

JIMD Rep. 2019 Jun 17;48(1):26-35. doi: 10.1002/jmd2.12054. eCollection 2019 Jul.

2.

The DNA Repair Nuclease MRE11A Functions as a Mitochondrial Protector and Prevents T Cell Pyroptosis and Tissue Inflammation.

Li Y, Shen Y, Jin K, Wen Z, Cao W, Wu B, Wen R, Tian L, Berry GJ, Goronzy JJ, Weyand CM.

Cell Metab. 2019 Jul 17. pii: S1550-4131(19)30319-5. doi: 10.1016/j.cmet.2019.06.016. [Epub ahead of print]

PMID:
31327667
3.

Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase.

Demirbas D, Harris DJ, Arn PH, Huang X, Waisbren SE, Anselm I, Lerner-Ellis JP, Wong LJ, Levy HL, Berry GT.

JIMD Rep. 2019 Mar 14;46(1):63-69. doi: 10.1002/jmd2.12018. eCollection 2019 Mar.

4.

The natural history of classic galactosemia: lessons from the GalNet registry.

Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, Couce ML, Dawson C, Demirbas D, Derks T, Eyskens F, Forga MT, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langendonk JG, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera IA, Scholl-Buergi S, Stepien KM, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren SE, Welsink-Karssies MM, Wortmann SB, Gautschi M, Treacy EP, Berry GT.

Orphanet J Rare Dis. 2019 Apr 27;14(1):86. doi: 10.1186/s13023-019-1047-z.

5.

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.

Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, Kölker S; Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases Consortia Study Group.

Ann Neurol. 2019 Jul;86(1):116-128. doi: 10.1002/ana.25492. Epub 2019 May 13.

PMID:
31018246
6.

CD28 Signaling Controls Metabolic Fitness of Pathogenic T Cells in Medium and Large Vessel Vasculitis.

Zhang H, Watanabe R, Berry GJ, Nadler SG, Goronzy JJ, Weyand CM.

J Am Coll Cardiol. 2019 Apr 16;73(14):1811-1823. doi: 10.1016/j.jacc.2019.01.049.

PMID:
30975299
7.

Response to letter by Farioli et al.

Reid A, Franklin P, Berry G, Peters S, Sodhi-Berry N, Brims F, Musk AW, de Klerk NH.

Occup Environ Med. 2019 May;76(5):356. doi: 10.1136/oemed-2019-105740. Epub 2019 Mar 30. No abstract available.

PMID:
30928905
8.

Cytokines, growth factors and proteases in medium and large vessel vasculitis.

Weyand CM, Watanabe R, Zhang H, Akiyama M, Berry GJ, Goronzy JJ.

Clin Immunol. 2019 Feb 14. pii: S1521-6616(19)30023-3. doi: 10.1016/j.clim.2019.02.007. [Epub ahead of print]

PMID:
30772599
9.

Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD).

Vockley J, Burton B, Berry GT, Longo N, Phillips J, Sanchez-Valle A, Tanpaiboon P, Grunewald S, Murphy E, Bowden A, Chen W, Chen CY, Cataldo J, Marsden D, Kakkis E.

J Inherit Metab Dis. 2019 Jan;42(1):169-177. doi: 10.1002/jimd.12038.

PMID:
30740733
10.

The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.

Demirbas D, Huang X, Daesety V, Feenstra S, Haskovic M, Qi W, Gubbels CS, Hecht L, Levy HL, Waisbren SE, Berry GT.

Mol Genet Metab. 2019 Apr;126(4):368-376. doi: 10.1016/j.ymgme.2019.01.016. Epub 2019 Jan 22.

PMID:
30718057
11.

Donor-derived cell-free DNA predicts allograft failure and mortality after lung transplantation.

Agbor-Enoh S, Wang Y, Tunc I, Jang MK, Davis A, De Vlaminck I, Luikart H, Shah PD, Timofte I, Brown AW, Marishta A, Bhatti K, Gorham S, Fideli U, Wylie J, Grimm D, Goodwin N, Yang Y, Patel K, Zhu J, Iacono A, Orens JB, Nathan SD, Marboe C, Berry GJ, Quake SR, Khush K, Valantine HA.

EBioMedicine. 2019 Feb;40:541-553. doi: 10.1016/j.ebiom.2018.12.029. Epub 2019 Jan 26.

12.

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.

Ah Mew N, Cnaan A, McCarter R, Choi H, Glass P, Rice K, Scavo L, Gillespie CW, Diaz GA, Berry GT, Wong D, Konczal L, McCandless SE, Coughlin Ii CR, Weisfeld-Adams JD, Ficicioglu C, Yudkoff M, Enns GM, Lichter-Konecki U, Gallagher R, Tuchman M.

Transl Sci Rare Dis. 2018 Dec 20;3(3-4):157-170. doi: 10.3233/TRD-180031.

13.

Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.

Gartner V, Markello TC, Macnamara E, De Biase A, Thurm A, Joseph L, Beggs A, Schmahmann JD, Berry GT, Anselm I, Boslet E, Tifft CJ, Gahl WA, Lee PR.

Am J Med Genet A. 2018 Dec;176(12):2768-2776. doi: 10.1002/ajmg.a.40628. Epub 2018 Dec 11.

PMID:
30548380
14.

Comparing external and internal validation methods in correcting outcome misclassification bias in logistic regression: A simulation study and application to the case of postsurgical venous thromboembolism following total hip and knee arthroplasty.

Ni J, Dasgupta K, Kahn SR, Talbot D, Lefebvre G, Lix LM, Berry G, Burman M, Dimentberg R, Laflamme Y, Cirkovic A, Rahme E.

Pharmacoepidemiol Drug Saf. 2019 Feb;28(2):217-226. doi: 10.1002/pds.4693. Epub 2018 Dec 4.

PMID:
30515908
15.

Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability.

Almontashiri NAM, Berry GT, Majzoub J, Peake RWA.

Clin Chem. 2018 Dec;64(12):1785-1787. doi: 10.1373/clinchem.2018.293696. No abstract available.

PMID:
30487191
16.

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.

Haskovic M, Derks B, van der Ploeg L, Trommelen J, Nyakayiru J, van Loon LJC, Mackinnon S, Yue WW, Peake RWA, Zha L, Demirbas D, Qi W, Huang X, Berry GT, Achten J, Bierau J, Rubio-Gozalbo ME, Coelho AI.

Orphanet J Rare Dis. 2018 Nov 26;13(1):212. doi: 10.1186/s13023-018-0954-8.

17.

Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.

Rodan LH, Anyane-Yeboa K, Chong K, Klein Wassink-Ruiter JS, Wilson A, Smith L, Kothare SV, Rajabi F, Blaser S, Ni M, DeBerardinis RJ, Poduri A, Berry GT.

Am J Med Genet A. 2018 Dec;176(12):2554-2560. doi: 10.1002/ajmg.a.60677. Epub 2018 Nov 26.

PMID:
30475435
18.

Spectrum of chronic lung allograft pathology in a mouse minor-mismatched orthotopic lung transplant model.

Martinu T, Oishi H, Juvet SC, Cypel M, Liu M, Berry GJ, Hwang DM, Keshavjee S.

Am J Transplant. 2019 Jan;19(1):247-258. doi: 10.1111/ajt.15167. Epub 2018 Nov 29.

PMID:
30378739
19.

An Unexpected Colonic Mass.

Li AA, Cholankeril G, Berry GJ, Fernandez-Becker N.

Am J Gastroenterol. 2019 Jan;114(1):180-181. doi: 10.1038/s41395-018-0363-6. No abstract available.

20.

Glucose metabolism controls disease-specific signatures of macrophage effector functions.

Watanabe R, Hilhorst M, Zhang H, Zeisbrich M, Berry GJ, Wallis BB, Harrison DG, Giacomini JC, Goronzy JJ, Weyand CM.

JCI Insight. 2018 Oct 18;3(20). pii: 123047. doi: 10.1172/jci.insight.123047.

21.

Pisces: an accurate and versatile variant caller for somatic and germline next-generation sequencing data.

Dunn T, Berry G, Emig-Agius D, Jiang Y, Lei S, Iyer A, Udar N, Chuang HY, Hegarty J, Dickover M, Klotzle B, Robbins J, Bibikova M, Peeters M, Strömberg M.

Bioinformatics. 2019 May 1;35(9):1579-1581. doi: 10.1093/bioinformatics/bty849.

22.

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

Metz KA, Teng X, Coppens I, Lamb HM, Wagner BE, Rosenfeld JA, Chen X, Zhang Y, Kim HJ, Meadow ME, Wang TS, Haberlandt ED, Anderson GW, Leshinsky-Silver E, Bi W, Markello TC, Pratt M, Makhseed N, Garnica A, Danylchuk NR, Burrow TA, Jayakar P, McKnight D, Agadi S, Gbedawo H, Stanley C, Alber M, Prehl I, Peariso K, Ong MT, Mordekar SR, Parker MJ, Crooks D, Agrawal PB, Berry GT, Loddenkemper T, Yang Y, Maegawa GHB, Aouacheria A, Markle JG, Wohlschlegel JA, Hartman AL, Hardwick JM.

Ann Neurol. 2018 Nov;84(5):766-780. doi: 10.1002/ana.25351. Epub 2018 Nov 8.

PMID:
30295347
23.

Blaunet: An R-based graphical user interface package to analyze Blau space.

Genkin M, Wang C, Berry G, Brashears ME.

PLoS One. 2018 Oct 1;13(10):e0204990. doi: 10.1371/journal.pone.0204990. eCollection 2018.

24.

Are children more vulnerable to mesothelioma than adults? A comparison of mesothelioma risk among children and adults exposed non-occupationally to blue asbestos at Wittenoom.

Reid A, Franklin P, Berry G, Peters S, Sodhi-Berry N, Brims F, Musk AW, de Klerk NH.

Occup Environ Med. 2018 Dec;75(12):898-903. doi: 10.1136/oemed-2018-105108. Epub 2018 Aug 29.

PMID:
30158318
25.

Are clinical outcomes affected by type of plate used for management of mid-shaft clavicle fractures?

Alzahrani MM, Cota A, Alkhelaifi K, Aleidan A, Berry G, Reindl R, Harvey E.

J Orthop Traumatol. 2018 Aug 15;19(1):8. doi: 10.1186/s10195-018-0492-0.

26.

Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review.

Mullikin D, Pillai N, Sanchez R, O'Donnell-Luria AH, Kritzer A, Tal L, Almannai M, Berry GT, Gambello MJ, Li H, Graham B, Srivaths L, Sutton VR, Grimes A.

J Pediatr. 2018 Nov;202:315-319.e2. doi: 10.1016/j.jpeds.2018.06.054. Epub 2018 Jul 26. Review.

PMID:
30057141
27.

Hyperammonemia in a Child Presenting with Growth Delay, Short Stature, and Diarrhea.

Almontashiri NAM, Demirbas D, Berry GT, Peake RWA.

Clin Chem. 2018 Aug;64(8):1260-1262. doi: 10.1373/clinchem.2018.291146. No abstract available.

28.

5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.

Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT; Undiagnosed Diseases Network (UDN).

Mol Genet Metab. 2018 Sep;125(1-2):118-126. doi: 10.1016/j.ymgme.2018.06.006. Epub 2018 Jun 15.

PMID:
30031689
29.

MMP (Matrix Metalloprotease)-9-Producing Monocytes Enable T Cells to Invade the Vessel Wall and Cause Vasculitis.

Watanabe R, Maeda T, Zhang H, Berry GJ, Zeisbrich M, Brockett R, Greenstein AE, Tian L, Goronzy JJ, Weyand CM.

Circ Res. 2018 Aug 31;123(6):700-715. doi: 10.1161/CIRCRESAHA.118.313206.

PMID:
29970365
30.

Banff Lung Report: Current knowledge and future research perspectives for diagnosis and treatment of pulmonary antibody-mediated rejection (AMR).

Roux A, Levine DJ, Zeevi A, Hachem R, Halloran K, Halloran PF, Gibault L, Taupin JL, Neil DAH, Loupy A, Adam BA, Mengel M, Hwang DM, Calabrese F, Berry G, Pavlisko EN.

Am J Transplant. 2019 Jan;19(1):21-31. doi: 10.1111/ajt.14990. Epub 2018 Aug 1.

PMID:
29956477
31.

De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.

Torres A, Brownstein CA, Tembulkar SK, Graber K, Genetti C, Kleiman RJ, Sweadner KJ, Mavros C, Liu KX, Smedemark-Margulies N, Maski K, Yang E, Agrawal PB, Shi J, Beggs AH, D'Angelo E, Lincoln SH, Carroll D, Dedeoglu F, Gahl WA, Biggs CM, Swoboda KJ, Berry GT, Gonzalez-Heydrich J.

Mol Genet Metab Rep. 2018 Jun 15;16:23-29. doi: 10.1016/j.ymgmr.2018.06.001. eCollection 2018 Sep.

32.

Acute Limited Intimal Tears of the Thoracic Aorta.

Chin AS, Willemink MJ, Kino A, Hinostroza V, Sailer AM, Fischbein MP, Mitchell RS, Berry GJ, Miller DC, Fleischmann D.

J Am Coll Cardiol. 2018 Jun 19;71(24):2773-2785. doi: 10.1016/j.jacc.2018.03.531.

33.

Pathological antibody-mediated rejection in pediatric heart transplant recipients: Immunologic risk factors, hemodynamic significance, and outcomes.

Hollander SA, Peng DM, Mills M, Berry GJ, Fedrigo M, McElhinney DB, Almond CS, Rosenthal DN.

Pediatr Transplant. 2018 Aug;22(5):e13197. doi: 10.1111/petr.13197. Epub 2018 May 4.

PMID:
29729067
34.

Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.

Rodan LH, Hauptman M, D'Gama AM, Qualls AE, Cao S, Tuschl K, Al-Jasmi F, Hertecant J, Hayflick SJ, Wessling-Resnick M, Yang ET, Berry GT, Gropman A, Woolf AD, Agrawal PB.

Mol Genet Metab. 2018 Jun;124(2):161-167. doi: 10.1016/j.ymgme.2018.04.002. Epub 2018 Apr 6.

35.

Gastrointestinal Tract Vasculopathy: Clinicopathology and Description of a Possible "New Entity" With Protean Features.

Louie CY, DiMaio MA, Charville GW, Berry GJ, Longacre TA.

Am J Surg Pathol. 2018 Jul;42(7):866-876. doi: 10.1097/PAS.0000000000001060.

PMID:
29624512
36.

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
37.

Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine.

Demirbas D, Brucker WJ, Berry GT.

Pediatr Clin North Am. 2018 Apr;65(2):337-352. doi: 10.1016/j.pcl.2017.11.008. Review.

PMID:
29502917
38.

Late manifestation of alloantibody-associated injury and clinical pulmonary antibody-mediated rejection: Evidence from cell-free DNA analysis.

Agbor-Enoh S, Jackson AM, Tunc I, Berry GJ, Cochrane A, Grimm D, Davis A, Shah P, Brown AW, Wang Y, Timofte I, Shah P, Gorham S, Wylie J, Goodwin N, Jang MK, Marishta A, Bhatti K, Fideli U, Yang Y, Luikart H, Cao Z, Pirooznia M, Zhu J, Marboe C, Iacono A, Nathan SD, Orens J, Valantine HA, Khush K.

J Heart Lung Transplant. 2018 Jul;37(7):925-932. doi: 10.1016/j.healun.2018.01.1305. Epub 2018 Jan 31.

PMID:
29500138
39.

Hereditary galactosemia.

Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT.

Metabolism. 2018 Jun;83:188-196. doi: 10.1016/j.metabol.2018.01.025. Epub 2018 Jan 31. Review.

PMID:
29409891
40.

The impact of nursing students on the health-related quality of life and perceived social support of a rural population in Ecuador: effects of a service-based learning course.

Walcott RL, Murcia AM, Berry GM, Juna CF, Roldós MI, Corso PS.

Int J Equity Health. 2018 Feb 2;17(1):16. doi: 10.1186/s12939-018-0734-z.

41.

Comparison of the Alere i Strep A Test and the BD Veritor System in the Detection of Group A Streptococcus and the Hypothetical Impact of Results on Antibiotic Utilization.

Berry GJ, Miller CR, Prats MM, Marquez C, Oladipo OO, Loeffelholz MJ, Petersen JR.

J Clin Microbiol. 2018 Feb 22;56(3). pii: e01310-17. doi: 10.1128/JCM.01310-17. Print 2018 Mar.

42.

Comprehensive Genomic Profiling of Malignant Effusions in Patients with Metastatic Lung Adenocarcinoma.

Yang SR, Lin CY, Stehr H, Long SR, Kong CS, Berry GJ, Zehnder JL, Kunder CA.

J Mol Diagn. 2018 Mar;20(2):184-194. doi: 10.1016/j.jmoldx.2017.10.007. Epub 2017 Dec 19.

PMID:
29269277
43.

Inhibition of JAK-STAT Signaling Suppresses Pathogenic Immune Responses in Medium and Large Vessel Vasculitis.

Zhang H, Watanabe R, Berry GJ, Tian L, Goronzy JJ, Weyand CM.

Circulation. 2018 May 1;137(18):1934-1948. doi: 10.1161/CIRCULATIONAHA.117.030423. Epub 2017 Dec 18.

44.

Virus Binding and Internalization Assay for Adeno-associated Virus.

Berry GE, Tse LV.

Bio Protoc. 2017 Jan 20;7(2). pii: e2110. doi: 10.21769/BioProtoc.2110.

45.

Dysphagia and Pharyngeal Obstruction in a Nonsmoker.

Nuyen BA, Berry G, Megwalu U.

JAMA Otolaryngol Head Neck Surg. 2018 Feb 1;144(2):171-172. doi: 10.1001/jamaoto.2017.2436. No abstract available.

PMID:
29222562
46.

Short-term succinic acid treatment mitigates cerebellar mitochondrial OXPHOS dysfunction, neurodegeneration and ataxia in a Purkinje-specific spinocerebellar ataxia type 1 (SCA1) mouse model.

Ferro A, Carbone E, Zhang J, Marzouk E, Villegas M, Siegel A, Nguyen D, Possidente T, Hartman J, Polley K, Ingram MA, Berry G, Reynolds TH, Possidente B, Frederick K, Ives S, Lagalwar S.

PLoS One. 2017 Dec 6;12(12):e0188425. doi: 10.1371/journal.pone.0188425. eCollection 2017.

47.

Mapping the Structural Determinants Required for AAVrh.10 Transport across the Blood-Brain Barrier.

Albright BH, Storey CM, Murlidharan G, Castellanos Rivera RM, Berry GE, Madigan VJ, Asokan A.

Mol Ther. 2018 Feb 7;26(2):510-523. doi: 10.1016/j.ymthe.2017.10.017. Epub 2017 Oct 26.

48.

Association of Omics Features with Histopathology Patterns in Lung Adenocarcinoma.

Yu KH, Berry GJ, Rubin DL, Ré C, Altman RB, Snyder M.

Cell Syst. 2017 Dec 27;5(6):620-627.e3. doi: 10.1016/j.cels.2017.10.014. Epub 2017 Nov 15.

49.

Anaplastic Lymphoma Kinase Testing: IHC vs. FISH vs. NGS.

Niu X, Chuang JC, Berry GJ, Wakelee HA.

Curr Treat Options Oncol. 2017 Nov 16;18(12):71. doi: 10.1007/s11864-017-0513-x. Review.

PMID:
29143897
50.

Acute Illness Protocol for Urea Cycle Disorders.

Rodan LH, Aldubayan SH, Berry GT, Levy HL.

Pediatr Emerg Care. 2018 Jun;34(6):e115-e119. doi: 10.1097/PEC.0000000000001298.

PMID:
29135898

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