Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 22

1.

Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias.

Hörster F, Kölker S, Loeber JG, Cornel MC, Hoffmann GF, Burgard P.

JIMD Rep. 2017;32:105-115. doi: 10.1007/8904_2016_537. Epub 2016 Jun 26.

2.

Current status of newborn screening worldwide: 2015.

Therrell BL, Padilla CD, Loeber JG, Kneisser I, Saadallah A, Borrajo GJ, Adams J.

Semin Perinatol. 2015 Apr;39(3):171-87. doi: 10.1053/j.semperi.2015.03.002. Review.

PMID:
25979780
3.

Clinical evaluation of the Nanoduct sweat test system in the diagnosis of cystic fibrosis after newborn screening.

Vernooij-van Langen A, Dompeling E, Yntema JB, Arets B, Tiddens H, Loeber G, Dankert-Roelse J.

Eur J Pediatr. 2015 Aug;174(8):1025-34. doi: 10.1007/s00431-015-2501-0. Epub 2015 Feb 13.

PMID:
25678232
4.

50 years of newborn screening.

Hoffmann GF, Lindner M, Loeber JG.

J Inherit Metab Dis. 2014 Mar;37(2):163-4. doi: 10.1007/s10545-014-9688-5. No abstract available.

PMID:
24526389
5.

National study of newborn hearing screening: programme sensitivity and characteristics of undetected children.

Korver AM, Konings S, Meuwese-Jongejeugd A, van Straaten HL, Uilenburg N, Dekker FW, Wever CC, Frijns JH, Oudesluys-Murphy AM; DECIBEL Collaborative study group.

B-ENT. 2013;Suppl 21:37-44.

PMID:
24383221
6.

A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document.

Cornel MC, Rigter T, Weinreich SS, Burgard P, Hoffmann GF, Lindner M, Gerard Loeber J, Rupp K, Taruscio D, Vittozzi L.

Eur J Hum Genet. 2014 Jan;22(1):12-7. doi: 10.1038/ejhg.2013.90. Epub 2013 May 8.

7.

Measuring free thyroxine levels in neonatal heel-prick samples.

Boelen A, van Veen M, Verkerk PH, Diependaal G, Loeber G, Elvers B, Endert E.

Clin Chim Acta. 2013 Aug 23;423:51-5. doi: 10.1016/j.cca.2013.04.004. Epub 2013 Apr 13.

PMID:
23588061
8.

To know or not to know, disclosure of a newborn carrier screening test result for cystic fibrosis.

Vernooij-van Langen AM, Reijntjens S, van der Pal SM, Loeber JG, Dompeling E, Dankert-Roelse JE.

Eur J Med Genet. 2013 Apr;56(4):192-6. doi: 10.1016/j.ejmg.2013.01.006. Epub 2013 Jan 24.

PMID:
23352994
9.

The influence of sex, gestational age, birth weight, blood transfusion, and timing of the heel prick on the pancreatitis-associated protein concentration in newborn screening for cystic fibrosis.

Vernooij-van Langen AM, Loeber JG, Elvers B, Triepels RH, Roefs J, Gille JJ, Reijntjens S, Dompeling E, Dankert-Roelse JE.

J Inherit Metab Dis. 2013 Jan;36(1):147-54. doi: 10.1007/s10545-012-9498-6. Epub 2012 Jun 28.

PMID:
22739940
10.

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result.

Loeber JG, Burgard P, Cornel MC, Rigter T, Weinreich SS, Rupp K, Hoffmann GF, Vittozzi L.

J Inherit Metab Dis. 2012 Jul;35(4):603-11. doi: 10.1007/s10545-012-9483-0. Epub 2012 May 3.

PMID:
22552820
11.

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance.

Burgard P, Rupp K, Lindner M, Haege G, Rigter T, Weinreich SS, Loeber JG, Taruscio D, Vittozzi L, Cornel MC, Hoffmann GF.

J Inherit Metab Dis. 2012 Jul;35(4):613-25. doi: 10.1007/s10545-012-9484-z. Epub 2012 Apr 28.

PMID:
22544437
12.

Improving test properties for neonatal cystic fibrosis screening in the Netherlands before the nationwide start by May 1st 2011.

Cornel MC, Gille JJ, Loeber JG, Vernooij-van Langen AM, Dankert-Roelse J, Bolhuis PA.

J Inherit Metab Dis. 2012 Jul;35(4):635-40. doi: 10.1007/s10545-012-9452-7.

13.

Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study.

Vernooij-van Langen AM, Loeber JG, Elvers B, Triepels RH, Gille JJ, Van der Ploeg CP, Reijntjens S, Dompeling E, Dankert-Roelse JE; CHOPIN Study Group.

Thorax. 2012 Apr;67(4):289-95. doi: 10.1136/thoraxjnl-2011-200730. Epub 2012 Jan 23.

PMID:
22271776
14.

Congenital cytomegalovirus infection in the Netherlands: birth prevalence and risk factors.

de Vries JJ, Korver AM, Verkerk PH, Rusman L, Claas EC, Loeber JG, Kroes AC, Vossen AC.

J Med Virol. 2011 Oct;83(10):1777-82. doi: 10.1002/jmv.22181.

PMID:
21837795
15.

Newborn hearing screening vs later hearing screening and developmental outcomes in children with permanent childhood hearing impairment.

Korver AM, Konings S, Dekker FW, Beers M, Wever CC, Frijns JH, Oudesluys-Murphy AM; DECIBEL Collaborative Study Group.

JAMA. 2010 Oct 20;304(15):1701-8. doi: 10.1001/jama.2010.1501.

PMID:
20959580
16.

Implementing neonatal screening for haemoglobinopathies in the Netherlands.

Bouva MJ, Mohrmann K, Brinkman HB, Kemper-Proper EA, Elvers B, Loeber JG, Verheul FE, Giordano PC.

J Med Screen. 2010;17(2):58-65. doi: 10.1258/jms.2010.009075.

PMID:
20660432
17.

Conference report: second conference of the Middle East and North Africa newborn screening initiative: Partnerships for sustainable newborn screening infrastructure and research opportunities.

Krotoski D, Namaste S, Raouf RK, El Nekhely I, Hindi-Alexander M, Engelson G, Hanson JW, Howell RR; MENA NBS Steering Committee.

Genet Med. 2009 Sep;11(9):663-8. doi: 10.1097/GIM.0b013e3181ab2277.

PMID:
19606054
18.

European best practice guidelines for cystic fibrosis neonatal screening.

Castellani C, Southern KW, Brownlee K, Dankert Roelse J, Duff A, Farrell M, Mehta A, Munck A, Pollitt R, Sermet-Gaudelus I, Wilcken B, Ballmann M, Corbetta C, de Monestrol I, Farrell P, Feilcke M, Férec C, Gartner S, Gaskin K, Hammermann J, Kashirskaya N, Loeber G, Macek M Jr, Mehta G, Reiman A, Rizzotti P, Sammon A, Sands D, Smyth A, Sommerburg O, Torresani T, Travert G, Vernooij A, Elborn S.

J Cyst Fibros. 2009 May;8(3):153-73. doi: 10.1016/j.jcf.2009.01.004. Epub 2009 Feb 26.

19.

Legal issues in neonatal screening.

Loeber JG.

Ann Acad Med Singapore. 2008 Dec;37(12 Suppl):92-2.

20.

Neonatal screening in Europe; the situation in 2004.

Loeber JG.

J Inherit Metab Dis. 2007 Aug;30(4):430-8. Epub 2007 Jul 6. Erratum in: J Inherit Metab Dis. 2008 Jun;31(3):469.

PMID:
17616847

Supplemental Content

Loading ...
Support Center