Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 23

1.

Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study.

Polo G, Burlina AP, Ranieri E, Colucci F, Rubert L, Pascarella A, Duro G, Tummolo A, Padoan A, Plebani M, Burlina AB.

Clin Chem Lab Med. 2019 May 15. pii: /j/cclm.ahead-of-print/cclm-2018-1301/cclm-2018-1301.xml. doi: 10.1515/cclm-2018-1301. [Epub ahead of print]

PMID:
31091195
2.

Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots.

Gelb MH, Lukacs Z, Ranieri E, Schielen PCJI.

Int J Neonatal Screen. 2019 Mar;5(1). pii: 1. doi: 10.3390/ijns5010001. Epub 2018 Dec 21.

3.

N-butyldeoxynojirimycin treatment restores the innate fear response and improves learning in mucopolysaccharidosis IIIA mice.

Kaidonis X, Byers S, Ranieri E, Sharp P, Fletcher J, Derrick-Roberts A.

Mol Genet Metab. 2016 Jun;118(2):100-10. doi: 10.1016/j.ymgme.2016.04.002. Epub 2016 Apr 13.

PMID:
27106513
4.

Screening for Down syndrome in the second trimester of pregnancy.

O'Leary P, Maxwell S, Sinosich M, DeVoss K, Fletcher J, Ranieri E, Metz MP.

Aust N Z J Obstet Gynaecol. 2016 Feb;56(1):19-21. doi: 10.1111/ajo.12411. Epub 2015 Oct 6.

PMID:
26437791
5.

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

Tan C, Shard C, Ranieri E, Hynes K, Pham DH, Leach D, Buchanan G, Corbett M, Shoubridge C, Kumar R, Douglas E, Nguyen LS, Mcmahon J, Sadleir L, Specchio N, Marini C, Guerrini R, Moller RS, Depienne C, Haan E, Thomas PQ, Berkovic SF, Scheffer IE, Gecz J.

Hum Mol Genet. 2015 Sep 15;24(18):5250-9. doi: 10.1093/hmg/ddv245. Epub 2015 Jun 29.

PMID:
26123493
6.

Derivation of pediatric within-individual biological variation by indirect sampling method: an LMS approach.

Loh TP, Ranieri E, Metz MP.

Am J Clin Pathol. 2014 Nov;142(5):657-63. doi: 10.1309/AJCPHZLQAEYH94HI.

PMID:
25319981
7.

Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector.

Wong ES, McIntyre C, Peters HL, Ranieri E, Anson DS, Fletcher JM.

Hum Gene Ther. 2014 Jun;25(6):529-38. doi: 10.1089/hum.2013.111. Epub 2014 Apr 2.

8.

Prostaglandin D(2) in inflammatory arthritis and its relation with synovial fluid dendritic cells.

Moghaddami M, Ranieri E, James M, Fletcher J, Cleland LG.

Mediators Inflamm. 2013;2013:329494. doi: 10.1155/2013/329494. Epub 2013 May 7.

9.

Newborn screening for G6PD deficiency--why is it important for India?

Kishore Kumar R, Nagar N, Ranieri E.

Indian J Pediatr. 2014 Jan;81(1):90-1. doi: 10.1007/s12098-013-1017-8. Epub 2013 Apr 19.

PMID:
23604608
10.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

McHugh D, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, Åhlman H, Allen JJ, Antonozzi I, Archer S, Au S, Auray-Blais C, Baker M, Bamforth F, Beckmann K, Pino GB, Berberich SL, Binard R, Boemer F, Bonham J, Breen NN, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Cariappa R, Carlisle C, Caruso U, Cassanello M, Castilla AM, Ramos DE, Chakraborty P, Chandrasekar R, Ramos AC, Cheillan D, Chien YH, Childs TA, Chrastina P, Sica YC, de Juan JA, Colandre ME, Espinoza VC, Corso G, Currier R, Cyr D, Czuczy N, D'Apolito O, Davis T, de Sain-Van der Velden MG, Delgado Pecellin C, Di Gangi IM, Di Stefano CM, Dotsikas Y, Downing M, Downs SM, Dy B, Dymerski M, Rueda I, Elvers B, Eaton R, Eckerd BM, El Mougy F, Eroh S, Espada M, Evans C, Fawbush S, Fijolek KF, Fisher L, Franzson L, Frazier DM, Garcia LR, Bermejo MS, Gavrilov D, Gerace R, Giordano G, Irazabal YG, Greed LC, Grier R, Grycki E, Gu X, Gulamali-Majid F, Hagar AF, Han L, Hannon WH, Haslip C, Hassan FA, He M, Hietala A, Himstedt L, Hoffman GL, Hoffman W, Hoggatt P, Hopkins PV, Hougaard DM, Hughes K, Hunt PR, Hwu WL, Hynes J, Ibarra-González I, Ingham CA, Ivanova M, Jacox WB, John C, Johnson JP, Jónsson JJ, Karg E, Kasper D, Klopper B, Katakouzinos D, Khneisser I, Knoll D, Kobayashi H, Koneski R, Kozich V, Kouapei R, Kohlmueller D, Kremensky I, la Marca G, Lavochkin M, Lee SY, Lehotay DC, Lemes A, Lepage J, Lesko B, Lewis B, Lim C, Linard S, Lindner M, Lloyd-Puryear MA, Lorey F, Loukas YL, Luedtke J, Maffitt N, Magee JF, Manning A, Manos S, Marie S, Hadachi SM, Marquardt G, Martin SJ, Matern D, Mayfield Gibson SK, Mayne P, McCallister TD, McCann M, McClure J, McGill JJ, McKeever CD, McNeilly B, Morrissey MA, Moutsatsou P, Mulcahy EA, Nikoloudis D, Norgaard-Pedersen B, Oglesbee D, Oltarzewski M, Ombrone D, Ojodu J, Papakonstantinou V, Reoyo SP, Park HD, Pasquali M, Pasquini E, Patel P, Pass KA, Peterson C, Pettersen RD, Pitt JJ, Poh S, Pollak A, Porter C, Poston PA, Price RW, Queijo C, Quesada J, Randell E, Ranieri E, Raymond K, Reddic JE, Reuben A, Ricciardi C, Rinaldo P, Rivera JD, Roberts A, Rocha H, Roche G, Greenberg CR, Mellado JM, Juan-Fita MJ, Ruiz C, Ruoppolo M, Rutledge SL, Ryu E, Saban C, Sahai I, García-Blanco MI, Santiago-Borrero P, Schenone A, Schoos R, Schweitzer B, Scott P, Seashore MR, Seeterlin MA, Sesser DE, Sevier DW, Shone SM, Sinclair G, Skrinska VA, Stanley EL, Strovel ET, Jones AL, Sunny S, Takats Z, Tanyalcin T, Teofoli F, Thompson JR, Tomashitis K, Domingos MT, Torres J, Torres R, Tortorelli S, Turi S, Turner K, Tzanakos N, Valiente AG, Vallance H, Vela-Amieva M, Vilarinho L, von Döbeln U, Vincent MF, Vorster BC, Watson MS, Webster D, Weiss S, Wilcken B, Wiley V, Williams SK, Willis SA, Woontner M, Wright K, Yahyaoui R, Yamaguchi S, Yssel M, Zakowicz WM.

Genet Med. 2011 Mar;13(3):230-54. doi: 10.1097/GIM.0b013e31820d5e67.

PMID:
21325949
11.

Expanded newborn screening: outcome in screened and unscreened patients at age 6 years.

Wilcken B, Haas M, Joy P, Wiley V, Bowling F, Carpenter K, Christodoulou J, Cowley D, Ellaway C, Fletcher J, Kirk EP, Lewis B, McGill J, Peters H, Pitt J, Ranieri E, Yaplito-Lee J, Boneh A.

Pediatrics. 2009 Aug;124(2):e241-8. doi: 10.1542/peds.2008-0586. Epub 2009 Jul 20.

PMID:
19620191
12.

Genetic susceptibility to viral exposure may increase the risk of cerebral palsy.

Djukic M, Gibson CS, Maclennan AH, Goldwater PN, Haan EA, McMichael G, Priest K, Dekker GA, Hague WM, Chan A, Rudzki Z, VAN Essen P, Khong TY, Morton MR, Ranieri E, Scott H, Tapp H, Casey G.

Aust N Z J Obstet Gynaecol. 2009 Jun;49(3):247-53. doi: 10.1111/j.1479-828X.2009.00999.x.

PMID:
19566553
13.

Endogenous plasma carnitine pool composition and response to erythropoietin treatment in chronic haemodialysis patients.

Reuter SE, Faull RJ, Ranieri E, Evans AM.

Nephrol Dial Transplant. 2009 Mar;24(3):990-6. doi: 10.1093/ndt/gfn588. Epub 2008 Nov 5.

PMID:
18987259
14.

Mannose-binding lectin haplotypes may be associated with cerebral palsy only after perinatal viral exposure.

Gibson CS, MacLennan AH, Goldwater PN, Haan EA, Priest K, Dekker GA; South Australian Cerebral Palsy Research Group.

Am J Obstet Gynecol. 2008 May;198(5):509.e1-8. doi: 10.1016/j.ajog.2008.02.027.

PMID:
18455525
15.

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, Bauters M, Govaerts K, Vandeleur L, Van Esch H, Chelly J, Sanlaville D, van Bokhoven H, Ropers HH, Laumonnier F, Ranieri E, Schwartz CE, Abidi F, Tarpey PS, Futreal PA, Whibley A, Raymond FL, Stratton MR, Fryns JP, Scott R, Peippo M, Sipponen M, Partington M, Mowat D, Field M, Hackett A, Marynen P, Turner G, Gécz J.

Am J Hum Genet. 2008 Feb;82(2):432-43. doi: 10.1016/j.ajhg.2007.11.002. Epub 2008 Jan 24.

16.

Lentiviral-mediated gene therapy for murine mucopolysaccharidosis type IIIA.

McIntyre C, Derrick Roberts AL, Ranieri E, Clements PR, Byers S, Anson DS.

Mol Genet Metab. 2008 Apr;93(4):411-8. doi: 10.1016/j.ymgme.2007.11.008. Epub 2008 Jan 8.

PMID:
18248829
17.

Lentiviral-mediated gene correction of mucopolysaccharidosis type IIIA.

Anson DS, McIntyre C, Thomas B, Koldej R, Ranieri E, Roberts A, Clements PR, Dunning K, Byers S.

Genet Vaccines Ther. 2007 Jan 16;5:1.

18.

Analysis of succinylacetone, as a Girard T derivative, in urine and dried bloodspots by flow injection electrospray ionization tandem mass spectrometry.

Johnson DW, Gerace R, Ranieri E, Trinh MU, Fingerhut R.

Rapid Commun Mass Spectrom. 2007;21(1):59-63.

PMID:
17133337
19.

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.

Stadler SC, Polanetz R, Maier EM, Heidenreich SC, Niederer B, Mayerhofer PU, Lagler F, Koch HG, Santer R, Fletcher JM, Ranieri E, Das AM, Spiekerkötter U, Schwab KO, Pötzsch S, Marquardt I, Hennermann JB, Knerr I, Mercimek-Mahmutoglu S, Kohlschmidt N, Liebl B, Fingerhut R, Olgemöller B, Muntau AC, Roscher AA, Röschinger W.

Hum Mutat. 2006 Aug;27(8):748-59.

PMID:
16835865
20.

Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy.

Meikle PJ, Ranieri E, Simonsen H, Rozaklis T, Ramsay SL, Whitfield PD, Fuller M, Christensen E, Skovby F, Hopwood JJ.

Pediatrics. 2004 Oct;114(4):909-16.

PMID:
15466084

Supplemental Content

Loading ...
Support Center