D Kotzot
Overview
Explore the profile of D Kotzot 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
55
Citations
627
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Heregger R, Huemer F, Hutarew G, Hecht S, Cheveresan L, Kotzot D, et al.
ESMO Open
. 2021 Aug;
6(4):100233.
PMID: 34371380
Metastatic pheochromocytoma and paraganglioma (PPGL) are rare diseases with dismal prognosis and standard therapies are lacking. We herein report the first case of a germline anaplastic lymphoma kinase (ALK) mutation...
2.
Zak J, Vives V, Szumska D, Vernet A, Schneider J, Miller P, et al.
Cell Death Differ
. 2016 Jul;
23(12):1973-1984.
PMID: 27447114
Chromosomal abnormalities are implicated in a substantial number of human developmental syndromes, but for many such disorders little is known about the causative genes. The recently described 1q41q42 microdeletion syndrome...
3.
Spreiz A, Haberlandt E, Baumann M, Baumgartner Sigl S, Fauth C, Gautsch K, et al.
Clin Genet
. 2013 Oct;
86(4):361-6.
PMID: 24116836
Epilepsy is a common finding in patients with chromosomal macro- and micro-rearrangements but only few aberrations show a constant pattern of seizures. DNA array-based studies have reported causative copy number...
4.
Hockner M, Spreiz A, Fruhmesser A, Tzschach A, Dufke A, Rittinger O, et al.
Cytogenet Genome Res
. 2012 Apr;
136(4):242-5.
PMID: 22516930
De novo cytogenetically balanced reciprocal non-Robertsonian translocations are rare findings in clinical cytogenetics and might be associated with an abnormal phenotype. Knowledge of the parental origin and mechanisms of formation...
5.
Rostasy K, Fauth C, Gautsch K, Laimer I, Krabichler B, Wimmer K, et al.
Clin Genet
. 2012 Mar;
83(3):284-7.
PMID: 22428932
The high resolution of modern DNA arrays has the implification of unintended coincidental detection of gene deletions predisposing to late-onset neurological and oncological disorders. Here, we report the case of...
6.
Fruhmesser A, Kotzot D
Sex Dev
. 2011 May;
5(3):109-23.
PMID: 21540567
Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans and occurs in one of every 600 newborn males. The typical symptoms are a tall...
7.
Grossmann V, Hockner M, Karmous-Benailly H, Liang D, Puttinger R, Quadrelli R, et al.
Clin Genet
. 2010 Jun;
78(6):548-53.
PMID: 20584030
Complex chromosomal rearrangements (CCRs) are rare findings in clinical cytogenetics. As a result of the high risk of unbalanced segregation, familial cases are even rarer and maternal transmission occurs more...
8.
Antonell A, Del Campo M, Magano L, Kaufmann L, de la Iglesia J, Gallastegui F, et al.
J Med Genet
. 2009 Nov;
47(5):312-20.
PMID: 19897463
Background: Williams-Beuren syndrome (WBS) is a developmental disorder with multisystemic manifestations mainly characterised by vascular stenoses, distinctive craniofacial features, mental retardation with a characteristic neurocognitive profile, and some endocrine and...
9.
Hockner M, Erdel M, Spreiz A, Utermann G, Kotzot D
Cytogenet Genome Res
. 2009 Sep;
125(2):98-102.
PMID: 19729911
Over the last years various whole genome amplification (WGA) methods have been established for genetic investigations from a limited number of cells or small quantities of DNA but not for...
10.
Kotzot D
J Med Genet
. 2008 Jun;
45(9):545-56.
PMID: 18524837
Objective: To review all cases with segmental and/or complex uniparental disomy (UPD) and to discuss the impact of these cases on medical genetics. Design: Searching for published reports in PubMed...