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Showing 1 to 12 of 34 entries
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Cow's milk allergy in Dutch children: an epigenetic pilot survey.

Clinical and translational allergy

Petrus NCM, Henneman P, Venema A, Mul A, van Sinderen F, Haagmans M, Mook O, Hennekam RC, Sprikkelman AB, Mannens M.
PMID: 27148440
Clin Transl Allergy. 2016 May 04;6:16. doi: 10.1186/s13601-016-0105-z. eCollection 2016.

BACKGROUND: Cow's milk allergy (CMA) is a common disease in infancy. Early environmental factors are likely to contribute to CMA. It is known that epigenetic gene regulation can be altered by environmental factors. We have set up a proof...

Novel .

Journal of medical genetics

Soria-Valles C, Carrero D, Gabau E, Velasco G, Quesada V, Bárcena C, Moens M, Fieggen K, Möhrcken S, Owens M, Puente DA, Asensio Ó, Loeys B, Pérez A, Benoit V, Wuyts W, Lévy N, Hennekam RC, De Sandre-Giovannoli A, López-Otín C.
PMID: 27334370
J Med Genet. 2016 Nov;53(11):776-785. doi: 10.1136/jmedgenet-2015-103695. Epub 2016 Jun 22.

BACKGROUND: Progeroid syndromes are genetic disorders that recapitulate some phenotypes of physiological ageing. Classical progerias, such as Hutchinson-Gilford progeria syndrome (HGPS), are generally caused by mutations in METHODS AND RESULTS: Patients reported herein present an extremely homogeneous phenotype that...

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

European journal of human genetics : EJHG

Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJ, van den Hout MC, van Hove S, Johansson LF, Jongbloed JD, Kamps R, Kockx CE, de Koning B, Kriek M, Deprez RL, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C, Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Weiss JM, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van IJcken WF, den Dunnen JT, Veltman JA, Hennekam R, Cuppen E.
PMID: 26269248
Eur J Hum Genet. 2015 Sep;23(9):1270. doi: 10.1038/ejhg.2015.44.

No abstract available.

eSolv, a CellML-based simulation front-end for online teaching.

Advances in physiology education

de Boer TP, van der Werf S, Hennekam B, Nickerson DP, Garny A, Gerbrands M, Bouwmeester RAM, Rozendal AP, Torfs E, van Rijen HVM.
PMID: 28679581
Adv Physiol Educ. 2017 Sep 01;41(3):425-427. doi: 10.1152/advan.00127.2016.

No abstract available.

Confinement during the COVID-19 pandemic: How multi-domain work-life shock events may result in positive identity change.

Journal of vocational behavior

Hennekam S, Ladge JJ, Powell GN.
PMID: 34511627
J Vocat Behav. 2021 Oct;130:103621. doi: 10.1016/j.jvb.2021.103621. Epub 2021 Sep 03.

During the COVID-19 pandemic many countries enforced mandatory stay-at-home orders. The confinement period that took place may be regarded as a multi-domain work-life shock event, severely disrupting both the professional and the family sphere. Taking an identity lens, this...

Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.

JIMD reports

van Kuilenburg ABP, Meijer J, Meinsma R, Pérez-Dueñas B, Alders M, Bhuiyan ZA, Artuch R, Hennekam RCM.
PMID: 30349988
JIMD Rep. 2019;45:65-69. doi: 10.1007/8904_2018_138. Epub 2018 Oct 23.

Dihydropyrimidine dehydrogenase (DPD) deficiency is a rare autosomal recessive disorder of the pyrimidine degradation pathway and can lead to intellectual disability, motor retardation, and seizures. Genetic variations in DPYD have also emerged as predictive risk factors for severe toxicity...

Enzymatic hydrolysis of beer brewers' spent grain and the influence of pretreatments.

Biotechnology and bioengineering

Beldman G, Hennekam J, Voragen AG.
PMID: 18581454
Biotechnol Bioeng. 1987 Oct 05;30(5):668-71. doi: 10.1002/bit.260300511.

The enzymatic saccharification of plant material has been shown to be of interest in various fields, such as the production of fruit juices(1,2) and the utilization of biomass.(3) A combination of cellulase, pectinase, and hemicellulases is usually used because...

Genetic susceptibility for cow's milk allergy in Dutch children: the start of the allergic march?.

Clinical and translational allergy

Henneman P, Petrus NCM, Venema A, van Sinderen F, van der Lip K, Hennekam RC, Mannens M, Sprikkelman AB.
PMID: 26941931
Clin Transl Allergy. 2016 Mar 03;6:7. doi: 10.1186/s13601-016-0096-9. eCollection 2015.

BACKGROUND: Cow's milk allergy (CMA) is the most common allergic disease in infancy. It is not clear, whether infants with CMA have an increased risk of developing other allergic diseases later in life, the so-called "allergic march". We aimed...

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

Molecular syndromology

Alders M, Mendola A, Adès L, Al Gazali L, Bellini C, Dallapiccola B, Edery P, Frank U, Hornshuh F, Huisman SA, Jagadeesh S, Kayserili H, Keng WT, Lev D, Prada CE, Sampson JR, Schmidtke J, Shashi V, van Bever Y, Van der Aa N, Verhagen JM, Verheij JB, Vikkula M, Hennekam RC.
PMID: 23653581
Mol Syndromol. 2013 Mar;4(3):107-13. doi: 10.1159/000342486. Epub 2012 Oct 02.

The lymphedema-lymphangiectasia-intellectual disability (Hennekam) syndrome (HS) is characterised by a widespread congenital lymph vessel dysplasia manifesting as congenital lymphedema of the limbs and intestinal lymphangiectasia, accompanied by unusual facial morphology, variable intellectual disabilities and infrequently malformations. The syndrome is...

Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?.

European journal of medical genetics

van der Werf-'t Lam AS, van Haeringen A, Rinnen T, Robles de Medina RM, Wilde AAM, Hennekam RC, Barge-Schaapveld DQCM.
PMID: 34748995
Eur J Med Genet. 2022 Jan;65(1):104382. doi: 10.1016/j.ejmg.2021.104382. Epub 2021 Nov 05.

Andersen-Tawil syndrome (ATS) and Noonan syndrome (NS) are both autosomal dominantly inherited disorders that share anomalies in the same body systems, i.e. cardiovascular system, skeleton, growth, and face morphology. Here we report a patient meeting clinical diagnostic criteria for...

Coping with the COVID-19 Crisis: Force Majeure and Gender Performativity.

Gender, work, and organization

Hennekam S, Shymko Y.
PMID: 32837010
Gend Work Organ. 2020 May 21; doi: 10.1111/gwao.12479. Epub 2020 May 21.

No abstract available.

Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?.

European journal of medical genetics

van der Werf-'t Lam AS, van Haeringen A, Rinnen T, Robles de Medina RM, Wilde AAM, Hennekam RC, Barge-Schaapveld DQCM.
PMID: 34748995
Eur J Med Genet. 2021 Nov 05;65(1):104382. doi: 10.1016/j.ejmg.2021.104382. Epub 2021 Nov 05.

Andersen-Tawil syndrome (ATS) and Noonan syndrome (NS) are both autosomal dominantly inherited disorders that share anomalies in the same body systems, i.e. cardiovascular system, skeleton, growth, and face morphology. Here we report a patient meeting clinical diagnostic criteria for...

Showing 1 to 12 of 34 entries