Julia Vodopiutz
Overview
Explore the profile of Julia Vodopiutz including associated specialties, affiliations and a list of published articles.
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Articles
33
Citations
592
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Recent Articles
1.
Boero S, Vodopiutz J, Maghnie M, de Bergua J, Ginebreda I, Kitoh H, et al.
Orphanet J Rare Dis
. 2024 Sep;
19(1):347.
PMID: 39289684
Background: Achondroplasia is the most common form of skeletal disorder with disproportionate short stature. Vosoritide is the first disease-specific, precision pharmacotherapy to increase growth velocity in children with achondroplasia. Limb...
2.
Vogel G, Podpeskar A, Rieder D, Salzer H, Garczarczyk-Asim D, Wang L, et al.
Clin Genet
. 2024 Mar;
106(3):224-233.
PMID: 38553872
Exome sequencing (ES) has identified biallelic kinesin family member 12 (KIF12) mutations as underlying neonatal cholestatic liver disease. We collected information on onset and progression of this entity. Among consecutively...
3.
Stegmann J, Kalanithy J, Dworschak G, Ishorst N, Mingardo E, Lopes F, et al.
NPJ Genom Med
. 2024 Mar;
9(1):18.
PMID: 38429302
CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum...
4.
Oppermann H, Marcos-Graneda E, Weiss L, Gurnett C, Jelsig A, Vineke S, et al.
Eur J Hum Genet
. 2023 Aug;
31(11):1251-1260.
PMID: 37644171
Heterozygous, pathogenic CUX1 variants are associated with global developmental delay or intellectual disability. This study delineates the clinical presentation in an extended cohort and investigates the molecular mechanism underlying the...
5.
Vodopiutz J, Steurer L, Haufler F, Laccone F, Garczarczyk-Asim D, Hilkenmeier M, et al.
Genes (Basel)
. 2023 Apr;
14(4).
PMID: 37107635
SHOX deficiency is a common genetic cause of short stature of variable degree. SHOX haploinsufficiency causes Leri-Weill dyschondrosteosis (LWD) as well as nonspecific short stature. haploinsufficiency is known to result...
6.
Panzer M, Viveiros A, Schaefer B, Baumgartner N, Seppi K, Djamshidian A, et al.
Hepatol Commun
. 2022 Mar;
6(7):1611-1619.
PMID: 35271763
Wilson disease (WD) is caused by biallelic pathogenic variants in adenosine triphosphatase copper-transporting beta (ATP7B); however, genetic testing identifies only one or no pathogenic ATP7B variant in a number of...
7.
Siegert S, Mindler G, Brucke C, Kranzl A, Patsch J, Ritter M, et al.
Genes (Basel)
. 2021 Nov;
12(11).
PMID: 34828254
Biallelic truncating variants result in cilia dysfunction and have been reported in four infants with Joubert syndrome and orofaciodigital syndrome type VI, respectively. We report here on three adult siblings,...
8.
Breu M, Hafele C, Trimmel-Schwahofer P, Schmidt W, Laconne F, Vodopiutz J, et al.
Epilepsia
. 2021 Aug;
62(11):2814-2825.
PMID: 34453316
Objective: To investigate the effectiveness and safety of the ketogenic diet (KD) in drug-resistant epilepsy in childhood in relation to the new 2017 International League Against Epilepsy (ILAE) classification of...
9.
Walleczek N, Forster K, Seyr M, Kadrnoska N, Kolar J, Wasinger-Brandweiner V, et al.
Wien Med Wochenschr
. 2021 Mar;
171(5-6):94-101.
PMID: 33689085
Skeletal disorders are inherited disorders with significant skeletal involvement and most of them are rare or extremely rare. Based on the clinical, radiological and genetic phenotype, the group of skeletal...
10.
Waich S, Janecke A, Parson W, Greber-Platzer S, Muller T, Huber L, et al.
Clin Genet
. 2020 Jun;
98(3):282-287.
PMID: 32557621
Biallelic loss-of-function mutations in the centrosomal pericentrin gene (PCNT) cause microcephalic osteodysplastic primordial dwarfism type II (MOPDII), which is characterized by extreme growth retardation, microcephaly, skeletal dysplasia, and dental anomalies....