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Items: 10

1.

Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference.

Lobitz S, Telfer P, Cela E, Allaf B, Angastiniotis M, Backman Johansson C, Badens C, Bento C, Bouva MJ, Canatan D, Charlton M, Coppinger C, Daniel Y, de Montalembert M, Ducoroy P, Dulin E, Fingerhut R, Frömmel C, García-Morin M, Gulbis B, Holtkamp U, Inusa B, James J, Kleanthous M, Klein J, Kunz JB, Langabeer L, Lapouméroulie C, Marcao A, Marín Soria JL, McMahon C, Ohene-Frempong K, Périni JM, Piel FB, Russo G, Sainati L, Schmugge M, Streetly A, Tshilolo L, Turner C, Venturelli D, Vilarinho L, Yahyaoui R, Elion J, Colombatti R; with the endorsement of EuroBloodNet, the European Reference Network in Rare Haematological Diseases.

Br J Haematol. 2018 Nov;183(4):648-660. doi: 10.1111/bjh.15600. Epub 2018 Oct 18.

PMID:
30334577
2.

Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands.

Dankert-Roelse JE, Bouva MJ, Jakobs BS, Janssens HM, de Winter-de Groot KM, Schönbeck Y, Gille JJP, Gulmans VAM, Verschoof-Puite RK, Schielen PCJI, Verkerk PH.

J Cyst Fibros. 2019 Jan;18(1):54-63. doi: 10.1016/j.jcf.2018.07.008. Epub 2018 Aug 23.

PMID:
30146269
3.

Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.

Stroek K, Bouva MJ, Schielen PCJI, Vaz FM, Heijboer AC, de Jonge R, Boelen A, Bosch AM.

Mol Genet Metab. 2018 May;124(1):50-56. doi: 10.1016/j.ymgme.2018.03.008. Epub 2018 Mar 21.

PMID:
29580649
4.

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
5.

Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening.

Giordano PC, Cnossen MH, Joosten AM, Jansen CA, Hakvoort TE, Bakker-Verweij M, Arkesteijn SG, van Delft P, Waye JS, Bouva MJ, Harteveld CL.

Hemoglobin. 2010;34(4):354-65. doi: 10.3109/03630269.2010.486341.

PMID:
20642333
6.

[Sickle cell disease in heel injection screening. II].

Vansenne F, de Borgie CA, Bouva MJ, Legdeur MA, van Zwieten R, Petrij F, Peters M.

Ned Tijdschr Geneeskd. 2009 May 2;153(18):858-61. Dutch. No abstract available.

PMID:
19475864
7.
8.

Known and new delta globin gene mutations and their diagnostic significance.

Bouva MJ, Harteveld CL, van Delft P, Giordano PC.

Haematologica. 2006 Jan;91(1):129-32.

9.

A new polyadenylation site mutation associated with a mild beta-thalassemia phenotype.

Giordano PC, Bouva MJ, Van Delft P, Akkerman N, Kappers-Klunne MC, Harteveld CL.

Haematologica. 2005 Apr;90(4):551-2.

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