H Engels
Overview
Explore the profile of H Engels including associated specialties, affiliations and a list of published articles.
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52
Citations
906
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Recent Articles
1.
Bramswig N, Caluseriu O, Ludecke H, Bolduc F, Noel N, Wieland T, et al.
Hum Genet
. 2017 Jan;
136(3):297-305.
PMID: 28124119
Chromatin remodeling is a complex process shaping the nucleosome landscape, thereby regulating the accessibility of transcription factors to regulatory regions of target genes and ultimately managing gene expression. The SWI/SNF...
2.
Bramswig N, Ludecke H, Pettersson M, Albrecht B, Bernier R, Cremer K, et al.
Hum Genet
. 2016 Nov;
136(2):179-192.
PMID: 27848077
The ubiquitin pathway is an enzymatic cascade including activating E1, conjugating E2, and ligating E3 enzymes, which governs protein degradation and sorting. It is crucial for many physiological processes. Compromised...
3.
Dworschak G, Cretolle C, Hilger A, Engels H, Korsch E, Reutter H, et al.
Clin Genet
. 2016 Aug;
91(5):661-671.
PMID: 27549440
Partial duplications of the long arm of chromosome 3, dup(3q), are a rare but well-described condition, sharing features of Cornelia de Lange syndrome. Around two thirds of cases are derived...
4.
Parenti I, Gervasini C, Pozojevic J, Wendt K, Watrin E, Azzollini J, et al.
Clin Genet
. 2015 Dec;
89(5):564-73.
PMID: 26671848
Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous disorder characterized by typical facial dysmorphism, cognitive impairment and multiple congenital anomalies. Approximately 75% of patients carry a variant in one...
5.
Bramswig N, Ockeloen C, Czeschik J, van Essen A, Pfundt R, Smeitink J, et al.
Hum Genet
. 2015 Aug;
134(10):1089-97.
PMID: 26264464
KCNH1 mutations have recently been described in six individuals with Temple-Baraitser syndrome (TMBTS) and six individuals with Zimmermann-Laband syndrome (ZLS). TMBTS is characterized by intellectual disability (ID), epilepsy, dysmorphic facial...
6.
Zink A, Wohlleber E, Engels H, Rodningen O, Ravn K, Heilmann S, et al.
Mol Syndromol
. 2014 Apr;
5(2):65-75.
PMID: 24715853
Fragile X syndrome (FXS) is one of the most common causes of intellectual disability/developmental delay (ID/DD), especially in males. It is caused most often by CGG trinucleotide repeat expansions, and...
7.
Kleffmann W, Zink A, Lee J, Senderek J, Mangold E, Moog U, et al.
Mol Syndromol
. 2013 Jan;
3(2):68-75.
PMID: 23326251
Microdeletions including 5q31 have been reported in only few patients to date. Apart from intellectual disability/developmental delay (ID/DD) of varying degrees, which is common to all reported patients, the clinical...
8.
Engels H, Bourguet D, Cagan L, Manachini B, Schuphan I, Stodola T, et al.
J Econ Entomol
. 2010 Nov;
103(5):1803-9.
PMID: 21061983
The large-scale cultivation of transgenic crops producing Bacillus thuringiensis (Bt) toxins have already lead to the evolution of Bt resistance in some pest populations targeted by these crops. We used...
9.
Vrijheid M, Cardis E, Ashmore P, Auvinen A, Bae J, Engels H, et al.
Int J Epidemiol
. 2007 Aug;
36(5):1126-35.
PMID: 17666424
Background: Ionizing radiation at very high (radio-therapeutic) dose levels can cause diseases other than cancer, particularly heart diseases. There is increasing evidence that doses of the order of a few...
10.
Vrijheid M, Cardis E, Blettner M, Gilbert E, Hakama M, Hill C, et al.
Radiat Res
. 2007 Mar;
167(4):361-79.
PMID: 17388694
Radiation protection standards are based mainly on risk estimates from studies of atomic bomb survivors in Japan. The validity of extrapolations from the relatively high-dose acute exposures in this population...