Heidemarie Neitzel
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Explore the profile of Heidemarie Neitzel including associated specialties, affiliations and a list of published articles.
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52
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1291
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Recent Articles
1.
Sperling K, Scherb H, Neitzel H
Mol Cytogenet
. 2023 May;
16(1):6.
PMID: 37183244
Trisomy 21 (Down syndrome) is the most common autosomal aneuploidy among newborns. About 90% result from meiotic nondisjunction during oogenesis, which occurs around conception, when also the most profound epigenetic...
2.
Neitzel H, Varon R, Chughtai S, Dartsch J, Dutrannoy-Tonsing V, Nurnberg P, et al.
Hum Genet
. 2022 May;
141(11):1785-1794.
PMID: 35536377
The evolutionary conserved Polo-like kinase 4 (PLK4) is essential for centriole duplication, spindle assembly, and de novo centriole formation. In man, homozygous mutations in PLK4 lead to primary microcephaly, altered...
3.
Habib R, Kim R, Neitzel H, Demuth I, Chrzanowska K, Seemanova E, et al.
Aging (Albany NY)
. 2020 Jun;
12(12):12342-12375.
PMID: 32564008
Background: Nibrin, as part of the NBN/MRE11/RAD50 complex, is mutated in Nijmegen breakage syndrome (NBS), which leads to impaired DNA damage response and lymphoid malignancy. Results: Telomere length (TL) was...
4.
Habib R, Neitzel H, Ernst A, Wong J, Goryluk-Kozakiewicz B, Gerlach A, et al.
Mol Cytogenet
. 2018 Feb;
11:17.
PMID: 29445421
Background: Nijmegen breakage syndrome is an autosomal recessive disorder characterized by microcephaly, immunodeficiency, hypersensitivity to X-irradiation, and a high predisposition to cancer. Nibrin, the product of the gene, is part...
5.
Schmid M, Steinlein C, Lomb C, Sperling K, Neitzel H
Cytogenet Genome Res
. 2016 Mar;
147(4):240-6.
PMID: 26959372
Two 5-methylcytosine (5-MeC)-rich heterochromatic regions were demonstrated in metaphase chromosomes of the Indian muntjac by indirect immunofluorescence using a monoclonal anti-5-MeC antibody. The metaphases were obtained from diploid and triploid...
6.
Paustian L, Chao M, Hanenberg H, Schindler D, Neitzel H, Kratz C, et al.
Pediatr Hematol Oncol
. 2016 Feb;
33(1):5-12.
PMID: 26900943
A substantial number of individuals with Fanconi anemia (FA) develop bone marrow failure and are treated with androgen therapy in order to increase blood counts. The authors retrospectively identified 70...
7.
Eifler M, Uecker R, Weisbach H, Bogdanow B, Richter E, Konig L, et al.
PLoS Pathog
. 2014 Nov;
10(10):e1004514.
PMID: 25393019
Entry into mitosis is accompanied by dramatic changes in cellular architecture, metabolism and gene expression. Many viruses have evolved cell cycle arrest strategies to prevent mitotic entry, presumably to ensure...
8.
Becker R, Keller T, Wegner R, Neitzel H, Stumm M, Knoll U, et al.
Prenat Diagn
. 2014 Sep;
35(1):81-9.
PMID: 25174624
Objective: The aim of the present study was to assess the risk of major anomalies in the offspring of consanguineous couples, including data on the prenatal situation. Methods: Over 20 ...
9.
Krawitz P, Hochsmann B, Murakami Y, Teubner B, Kruger U, Klopocki E, et al.
Blood
. 2013 Jun;
122(7):1312-5.
PMID: 23733340
To ascertain the genetic basis of a paroxysmal nocturnal hemoglobinuria (PNH) case without somatic mutations in PIGA, we performed deep next-generation sequencing on all exons of known genes of the...
10.
Ott C, Fischer B, Schroter P, Richter R, Gupta N, Verma N, et al.
Bone
. 2013 May;
55(2):292-7.
PMID: 23685543
Autosomal recessive osteopetrosis (ARO, MIM 259700) is a genetically heterogeneous rare skeletal disorder characterized by failure of osteoclast resorption leading to pathologically increased bone density, bone marrow failure, and fractures....