M M van Haelst
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Explore the profile of M M van Haelst including associated specialties, affiliations and a list of published articles.
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11
Citations
398
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Recent Articles
1.
van der Valk E, Kleinendorst L, Delhanty P, van der Voorn B, Visser J, van Haelst M, et al.
J Clin Endocrinol Metab
. 2022 Jun;
107(9):e3699-e3704.
PMID: 35737586
Objective: Patients with pro-opiomelanocortin (POMC) defects generally present with early-onset obesity, hyperphagia, hypopigmentation and adrenocorticotropin (ACTH) deficiency. Rodent models suggest that adequate cleavage of ACTH to α-melanocortin-stimulating hormone (α-MSH) and...
2.
Cooiman M, Kleinendorst L, Aarts E, Janssen I, Ploos van Amstel H, Blakemore A, et al.
Obes Surg
. 2019 Oct;
30(2):470-477.
PMID: 31650404
Background: Mutations in the leptin-melanocortin pathway genes are known to cause monogenic obesity. The prevalence of these gene mutations and their effect on weight loss response after bariatric surgery are...
3.
van den Akker W, Brummelman I, Martis L, Timmermans R, Pfundt R, Kleefstra T, et al.
Clin Genet
. 2018 Feb;
93(5):1000-1007.
PMID: 29393965
De novo variants in the gene encoding cyclin-dependent kinase 13 (CDK13) have been associated with congenital heart defects and intellectual disability (ID). Here, we present the clinical assessment of 15...
4.
de Vries T, Alsters S, Kleinendorst L, van Haaften G, Van Der Zwaag B, van Haelst M
Ned Tijdschr Geneeskd
. 2017 Mar;
161:D688.
PMID: 28351432
- Obesity is an important risk factor for morbidity and premature death, as well as a contributing factor to psychosocial problems. The incidence of obesity has increased dramatically over the...
5.
Wakeling E, Amero S, Alders M, Bliek J, Forsythe E, Kumar S, et al.
J Med Genet
. 2010 Aug;
47(11):760-8.
PMID: 20685669
Background: Silver-Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face and asymmetry. Maternal uniparental disomy (mUPD) of chromosome 7 and hypomethylation of the...
6.
Walters R, Jacquemont S, Valsesia A, de Smith A, Martinet D, Andersson J, et al.
Nature
. 2010 Feb;
463(7281):671-5.
PMID: 20130649
Obesity has become a major worldwide challenge to public health, owing to an interaction between the Western 'obesogenic' environment and a strong genetic contribution. Recent extensive genome-wide association studies (GWASs)...
7.
van Haelst M, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, et al.
Am J Med Genet A
. 2008 Aug;
146A(17):2252-7.
PMID: 18671281
Fraser syndrome (FS) is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract. FS is considered to be the human equivalent of...
8.
van Haelst M, Eussen H, Visscher F, de Ruijter J, Drop S, Lindhout D, et al.
J Med Genet
. 2002 Aug;
39(8):582-5.
PMID: 12161598
No abstract available.
9.
van Haelst M, Van Opstal D, Lindhout D, Los F
Prenat Diagn
. 2001 Dec;
21(12):1075-8.
PMID: 11746167
We report on ten pregnancies with trisomy 8 mosaicism. Nine cases were prenatally detected in chorionic villi (n=6), amniotic fluid (AF) cells (n=2) or fetal blood (FB) lymphocytes (n=1). Follow-up...
10.
van Haelst M, Hoogeboom J, Galjaard R, Kleijer W, den Hollander N, de Krijger R, et al.
Am J Med Genet
. 2001 Dec;
104(1):65-8.
PMID: 11746030
We report on a sibship with protein-losing enteropathy related to intestinal lymphangiectasia, a peculiar face, and genital anomalies. The parents are distantly related and from Dutch ancestry. The first patient...