Anita Wischmeijer
Overview
Explore the profile of Anita Wischmeijer including associated specialties, affiliations and a list of published articles.
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Articles
35
Citations
369
Followers
0
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Recent Articles
1.
Goodkey K, Wischmeijer A, Perrin L, Watson A, Qureshi L, Cordelli D, et al.
BMC Med
. 2024 Jul;
22(1):292.
PMID: 38992656
No abstract available.
2.
Goodkey K, Wischmeijer A, Perrin L, Watson A, Qureshi L, Cordelli D, et al.
BMC Med
. 2024 Apr;
22(1):158.
PMID: 38616269
ANKRD11 (ankyrin repeat domain 11) is a chromatin regulator and the only gene associated with KBG syndrome, a rare neurodevelopmental disorder. We have previously shown that Ankrd11 regulates murine embryonic...
3.
Ambrosetti I, Bernardini L, Pollazzon M, Giuffrida M, Guida V, Peluso F, et al.
Genes (Basel)
. 2023 Aug;
14(8).
PMID: 37628577
Split Hand-Foot Malformation (SHFM) is a congenital limb defect characterized by a median cleft of the hands and/or feet due to the absence/hypoplasia of the central rays. It may occur...
4.
Mantovani V, Bin S, Graziano C, Capelli I, Minardi R, Aiello V, et al.
Front Genet
. 2020 May;
11:464.
PMID: 32457805
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited disorders in humans and the majority of patients carry a variant in either or . Genetic testing...
5.
Mariucci E, Spinardi L, Stagni S, Graziano C, Lovato L, Pacini D, et al.
Am J Med Genet A
. 2020 May;
182(7):1673-1680.
PMID: 32352226
This study aimed to investigate the potential association between imaging features and cardiovascular outcomes in patients with Loeys–Dietz syndrome (LDS). We performed a retrospective cohort study of 36 patients with...
6.
Camerota L, Ritelli M, Wischmeijer A, Majore S, Cinquina V, Fortugno P, et al.
Genes (Basel)
. 2019 Oct;
10(10).
PMID: 31569402
Loeys-Dietz syndrome (LDS) is a connective tissue disorder first described in 2005 featuring aortic/arterial aneurysms, dissections, and tortuosity associated with craniofacial, osteoarticular, musculoskeletal, and cutaneous manifestations. Heterozygous mutations in 6...
7.
Diquigiovanni C, Bergamini C, Diaz R, Liparulo I, Bianco F, Masin L, et al.
FASEB J
. 2019 Jul;
33(10):11284-11302.
PMID: 31314595
Loss-of-function mutations in the gene cause Troyer syndrome, a recessive form of spastic paraplegia resulting in muscle weakness, short stature, and cognitive defects. encodes for Spartin, a protein linked to...
8.
Rainger J, van Beusekom E, Ramsay J, McKie L, Al-Gazali L, Pallotta R, et al.
PLoS Genet
. 2018 Dec;
14(12):e1007866.
PMID: 30586382
[This corrects the article DOI: 10.1371/journal.pgen.1002114.].
9.
Tortora G, Wischmeijer A, Berretta P, Alfonsi J, Di Marco L, Barbieri A, et al.
Interact Cardiovasc Thorac Surg
. 2017 Oct;
25(5):813-817.
PMID: 29049801
Objectives: Mutations in ACTA2 have been reported as a cause of familiar thoracic aortic aneurysm (TAA) with associated bicuspid aortic valve (BAV) in some individuals. Our aim is to investigate...
10.
Benedicenti F, Stanzial F, Wischmeijer A, Inzana F
J Neurol Sci
. 2017 Jun;
379:335-336.
PMID: 28583319
No abstract available.