Markus Bettendorf
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Explore the profile of Markus Bettendorf including associated specialties, affiliations and a list of published articles.
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70
Citations
468
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Recent Articles
1.
Gippert S, Brune M, Choukair D, Bettendorf M
Horm Res Paediatr
. 2024 Sep;
:1-8.
PMID: 39293420
Introduction: The diagnosis of arginine vasopressin deficiency (AVD, formerly central diabetes insipidus) remains a challenge. In recent years, stimulated copeptin has emerged as a promising tool to diagnose AVD. Methods:...
2.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh T, et al.
Nat Genet
. 2024 Jul;
56(8):1644-1653.
PMID: 39039281
Individuals with ultrarare disorders pose a structural challenge for healthcare systems since expert clinical knowledge is required to establish diagnoses. In TRANSLATE NAMSE, a 3-year prospective study, we evaluated a...
3.
Choukair D, Mittnacht J, Treiber D, Hoffmann G, Grasemann C, Huebner A, et al.
Clin Endocrinol (Oxf)
. 2024 Jul;
101(2):121-129.
PMID: 38979902
Objective: Structured transition of adolescents and young adults with a chronic endocrine disease from paediatric to adult care is important. Until now, no data on time and resources required for...
4.
Choukair D, Mittnacht J, Bettendorf M
Endocrinol Diabetes Metab
. 2024 Jun;
7(4):e00493.
PMID: 38845445
Objective: During the process of transition from paediatric to adult health care, counselling concerning fertility is an important issue and is based mainly on serum markers of gonadal function. Here,...
5.
Hammersen J, Bettendorf M, Bonfig W, Schonau E, Warncke K, Eckert A, et al.
Med Genet
. 2024 Jun;
34(1):29-40.
PMID: 38836017
Congenital primary hypothyroidism (CH) and congenital adrenal hyperplasia (CAH) are targeted by the German and Austrian newborn screening. For both diseases, there are registries for quality improvement, based on standardized...
6.
Cetiner M, Bergmann C, Bettendorf M, Faust J, Gackler A, Gillissen B, et al.
Klin Padiatr
. 2024 Mar;
236(5):269-279.
PMID: 38458231
Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive multisystem disease. The pathophysiological origin is a dysfunction of the primary cilium. Clinical symptoms are heterogeneous and variable: retinal dystrophy, obesity, polydactyly,...
7.
Gippert S, Wagner M, Brunet T, Berruti R, Brugger M, Schwaibold E, et al.
Endocrine
. 2023 Nov;
85(1):444-453.
PMID: 37940764
Background: Endocrine disorders are heterogeneous and include a significant number of rare monogenic diseases. Methods: We performed exome sequencing (ES) in 106 children recruited from a single center within the...
8.
Gippert S, Brune M, Dirksen R, Choukair D, Bettendorf M
Horm Res Paediatr
. 2023 Aug;
97(3):270-278.
PMID: 37607514
Introduction: Diagnosis of central diabetes insipidus (CDI) remains challenging. Water deprivation testing and hypertonic saline infusion, as established diagnostic tests, are mentally and physically demanding for patients. Arginine-stimulated copeptin has...
9.
Holzapfel L, Choukair D, Schenk J, Bettendorf M
J Pediatr Endocrinol Metab
. 2023 Aug;
36(9):824-831.
PMID: 37531076
Objectives: The aim of our study was the longitudinal assessment of bone health index (BHI) in short-statured children during growth hormone (GH) treatment to estimate changes in their bone health....
10.
Krivega M, Zimmer J, Slezko A, Frank-Herrmann P, Rehnitz J, Hohenfellner M, et al.
Cell Death Discov
. 2023 May;
9(1):173.
PMID: 37217472
The ability to transmit genetic information through generations depends on the preservation of genome integrity. Genetic abnormalities affect cell differentiation, causing tissue specification defects and cancer. We addressed genomic instability...