Desiree Y Van Haaften-Visser
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Explore the profile of Desiree Y Van Haaften-Visser including associated specialties, affiliations and a list of published articles.
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Articles
4
Citations
161
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Recent Articles
1.
Muffels I, Waterham H, DAlessandro G, Zagnoli-Vieira G, Sacher M, Lefeber D, et al.
Genome Med
. 2025 Feb;
17(1):12.
PMID: 39920830
Background: Deciphering variants of uncertain significance (VUS) represents a major diagnostic challenge, partially due to the lack of easy-to-use and versatile cellular readouts that aid the interpretation of pathogenicity and...
2.
van Rijn J, Ardy R, Kuloglu Z, Harter B, Van Haaften-Visser D, van der Doef H, et al.
Gastroenterology
. 2018 Apr;
155(1):130-143.e15.
PMID: 29604290
Background & Aims: Congenital diarrheal disorders are rare inherited intestinal disorders characterized by intractable, sometimes life-threatening, diarrhea and nutrient malabsorption; some have been associated with mutations in diacylglycerol-acyltransferase 1 (DGAT1),...
3.
Van Haaften-Visser D, Harakalova M, Mocholi E, van Montfrans J, Elkadri A, Rieter E, et al.
J Biol Chem
. 2017 Mar;
292(19):7904-7920.
PMID: 28302725
Infantile-onset inflammatory bowel disease (IO IBD) is an invalidating illness with an onset before 2 years of age and has a complex pathophysiology in which genetic factors are important. Homozygosity...
4.
Wiegerinck C, Janecke A, Schneeberger K, Vogel G, Van Haaften-Visser D, Escher J, et al.
Gastroenterology
. 2014 Apr;
147(1):65-68.e10.
PMID: 24726755
Microvillus inclusion disease (MVID) is a disorder of intestinal epithelial differentiation characterized by life-threatening intractable diarrhea. MVID can be diagnosed based on loss of microvilli, microvillus inclusions, and accumulation of...
5.
van der Woerd W, Van Haaften-Visser D, van de Graaf S, Ferec C, Masson E, Stapelbroek J, et al.
PLoS One
. 2013 Nov;
8(11):e80553.
PMID: 24260417
Background: Mutations in genes encoding cationic trypsinogen (PRSS1), pancreatic secretory trypsin inhibitor (SPINK1) and chymotrypsinogen C (CTRC) are associated with chronic pancreatitis. However, in many patients with a familial chronic...