Johanne M D Hahnemann
Overview
Explore the profile of Johanne M D Hahnemann including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
12
Citations
340
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Bak M, Boonen S, Dahl C, Hahnemann J, Mackay D, Tumer Z, et al.
BMC Med Genet
. 2016 Apr;
17:29.
PMID: 27075368
Background: Transient neonatal diabetes mellitus 1 (TNDM1) is a rare imprinting disorder characterized by intrautering growth retardation and diabetes mellitus usually presenting within the first six weeks of life and...
2.
Gede L, Hahnemann J, Tumer Z, Brondum-Nielsen K, Gronskov K
Prenat Diagn
. 2015 Nov;
36(1):100-3.
PMID: 26590364
No abstract available.
3.
Boonen S, Mackay D, Hahnemann J, Docherty L, Gronskov K, Lehmann A, et al.
Diabetes Care
. 2012 Nov;
36(3):505-12.
PMID: 23150280
Objective: Transient neonatal diabetes mellitus 1 (TNDM1) is the most common cause of diabetes presenting at birth. Approximately 5% of the cases are due to recessive ZFP57 mutations, causing hypomethylation...
4.
Boonen S, Hahnemann J, Mackay D, Tommerup N, Brondum-Nielsen K, Tumer Z, et al.
Eur J Hum Genet
. 2011 Aug;
20(1):119-21.
PMID: 21863059
Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome, which, in 50-60% of sporadic cases, is caused by hypomethylation of KCNQ1OT1 differentially methylated region (DMR) at chromosome 11p15.5. The underlying defect of...
5.
Gronskov K, Poole R, Hahnemann J, Thomson J, Tumer Z, Brondum-Nielsen K, et al.
J Med Genet
. 2011 Feb;
48(5):308-11.
PMID: 21278389
Silver-Russell syndrome (SRS) is characterised by prenatal and postnatal growth retardation, dysmorphic facial features, and body asymmetry. In 35-60% of SRS cases the paternally methylated imprinting control region (ICR) upstream...
6.
Verkerk A, Schot R, van Waterschoot L, Douben H, Poddighe P, Lequin M, et al.
Am J Med Genet A
. 2010 May;
152A(6):1488-97.
PMID: 20503325
The combination of megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus (MPPH) is a rare syndrome of unknown cause. We observed two first cousins affected by an MPPH-like phenotype with a submicroscopic...
7.
Mackay D, Callaway J, Marks S, White H, Acerini C, Boonen S, et al.
Nat Genet
. 2008 Jul;
40(8):949-51.
PMID: 18622393
We have previously described individuals presenting with transient neonatal diabetes and showing a variable pattern of DNA hypomethylation at imprinted loci throughout the genome. We now report mutations in ZFP57,...
8.
[Prenatal diagnosis of chromosome aberrations after implementation of screening for Down's syndrome]
Kjaergaard S, Hahnemann J, Skibsted L, Jensen L, Sperling L, Zingenberg H, et al.
Ugeskr Laeger
. 2008 Apr;
170(14):1152-6.
PMID: 18405480
Introduction: First trimester screening for Down's syndrome was evaluated by the National Board of Health in 2004, and recommended to all pregnant women in the form of an informed choice....
9.
Olsen B, Hahnemann J, Schwartz M, Ostergaard E
Pediatr Diabetes
. 2007 Jul;
8(4):239-41.
PMID: 17659067
Thiamine-responsive megaloblastic anaemia (TRMA) is a rare autosomal recessive condition, characterized by megaloblastic anaemia, non-autoimmune diabetes mellitus, and sensorineural hearing loss. We describe three infants with TRMA from two consanguineous...
10.
Bugge M, Collins A, Hertz J, Eiberg H, Lundsteen C, Brandt C, et al.
Hum Mol Genet
. 2007 Jun;
16(16):2004-10.
PMID: 17584770
We performed a molecular study with 21 microsatellites on a sample of 82 trisomy 13 conceptuses, the largest number of cases studied to date. The parental origin was determined in...