de Zegher F - Search Results

1

Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome.

Heremans J, Garcia-Perez JE, Turro E, Schlenner SM, Casteels I, Collin R, de Zegher F, Greene D, Humblet-Baron S, Lesage S, Matthys P, Penkett CJ, Put K, Stirrups K; National Institute for Health Research BioResource; Thys C, Van Geet C, Van Nieuwenhove E, Wouters C, Meyts I, Freson K, Liston A. Heremans J, et al. Among authors: de zegher f. J Allergy Clin Immunol. 2018 Aug;142(2):630-646. doi: 10.1016/j.jaci.2017.11.061. Epub 2018 Jan 31. J Allergy Clin Immunol. 2018. PMID: 29391254

2

Empty sella, growth hormone deficiency and pseudotumour cerebri: effect of initiation, withdrawal and resumption of growth hormone therapy.

Francois I, Casteels I, Silberstein J, Casaer P, de Zegher F. Francois I, et al. Among authors: de zegher f. Eur J Pediatr. 1997 Jan;156(1):69-70. doi: 10.1007/s004310050556. Eur J Pediatr. 1997. PMID: 9007496

3

Bilateral cataract and high myopia in a child with trichothiodystrophy: a case report.

Vandenberghe K, Casteels I, Vandenbussche E, De Zegher F, De Boeck K. Vandenberghe K, et al. Among authors: de zegher f, de boeck k. Bull Soc Belge Ophtalmol. 2001;(282):15-8. Bull Soc Belge Ophtalmol. 2001. PMID: 12455135

4

Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation.

Freson K, Jaeken J, Van Helvoirt M, de Zegher F, Wittevrongel C, Thys C, Hoylaerts MF, Vermylen J, Van Geet C. Freson K, et al. Among authors: de zegher f. Hum Mol Genet. 2003 May 15;12(10):1121-30. doi: 10.1093/hmg/ddg130. Hum Mol Genet. 2003. PMID: 12719376

5

Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state.

Freson K, Izzi B, Jaeken J, Van Helvoirt M, Thys C, Wittevrongel C, de Zegher F, Van Geet C. Freson K, et al. Among authors: de zegher f. J Clin Endocrinol Metab. 2008 Dec;93(12):4844-9. doi: 10.1210/jc.2008-0233. Epub 2008 Sep 16. J Clin Endocrinol Metab. 2008. PMID: 18796523

6

GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets.

Freson K, Izzi B, Labarque V, Van Helvoirt M, Thys C, Wittevrongel C, Bex M, Bouillon R, Godefroid N, Proesmans W, de Zegher F, Jaeken J, Van Geet C. Freson K, et al. Among authors: de zegher f. J Clin Endocrinol Metab. 2008 Dec;93(12):4851-9. doi: 10.1210/jc.2008-0883. Epub 2008 Sep 23. J Clin Endocrinol Metab. 2008. PMID: 18812479

7

A new approach to imprinting mutation detection in GNAS by Sequenom EpiTYPER system.

Izzi B, Decallonne B, Devriendt K, Bouillon R, Vanderschueren D, Levtchenko E, de Zegher F, Van den Bruel A, Lambrechts D, Van Geet C, Freson K. Izzi B, et al. Among authors: de zegher f. Clin Chim Acta. 2010 Dec 14;411(23-24):2033-9. doi: 10.1016/j.cca.2010.08.034. Epub 2010 Aug 31. Clin Chim Acta. 2010. PMID: 20807523

8

No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.

Izzi B, de Zegher F, Francois I, del Favero J, Goossens D, Wittevrongel C, Thys C, Van Geet C, Freson K. Izzi B, et al. Among authors: de zegher f. J Hum Genet. 2012 Apr;57(4):277-9. doi: 10.1038/jhg.2012.1. Epub 2012 Jan 26. J Hum Genet. 2012. PMID: 22277900

9

Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.

Izzi B, Francois I, Labarque V, Thys C, Wittevrongel C, Devriendt K, Legius E, Van den Bruel A, D'Hooghe M, Lambrechts D, de Zegher F, Van Geet C, Freson K. Izzi B, et al. Among authors: de zegher f. PLoS One. 2012;7(6):e38579. doi: 10.1371/journal.pone.0038579. Epub 2012 Jun 5. PLoS One. 2012. PMID: 22679513 Free PMC article.

10

Brief Report: IFIH1 Mutation Causes Systemic Lupus Erythematosus With Selective IgA Deficiency.

Van Eyck L, De Somer L, Pombal D, Bornschein S, Frans G, Humblet-Baron S, Moens L, de Zegher F, Bossuyt X, Wouters C, Liston A. Van Eyck L, et al. Among authors: de somer l, de zegher f. Arthritis Rheumatol. 2015 Jun;67(6):1592-7. doi: 10.1002/art.39110. Arthritis Rheumatol. 2015. PMID: 25777993

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