Birgit Weiss
Overview
Explore the profile of Birgit Weiss including associated specialties, affiliations and a list of published articles.
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Articles
18
Citations
462
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Recent Articles
1.
Weiss B, Ott T, Vick P, Lui J, Roeth R, Vogel S, et al.
Front Endocrinol (Lausanne)
. 2023 Dec;
14:1258313.
PMID: 38152138
Very tall people attract much attention and represent a clinically and genetically heterogenous group of individuals. Identifying the genetic etiology can provide important insights into the molecular mechanisms regulating linear...
2.
Vick P, Eberle B, Choukair D, Weiss B, Roeth R, Schneider I, et al.
Genes (Basel)
. 2021 Dec;
12(12).
PMID: 34946811
Congenital primary hypothyroidism (CH; OMIM 218700) is characterized by an impaired thyroid development, or dyshormonogenesis, and can lead to intellectual disability and growth retardation if untreated. Most of the children...
3.
Weiss B, Eberle B, Roeth R, de Bruin C, Lui J, Paramasivam N, et al.
Front Endocrinol (Lausanne)
. 2021 Jul;
12:660731.
PMID: 34194391
Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic...
4.
Choukair D, Eberle B, Vick P, Hermanns P, Weiss B, Paramasivam N, et al.
Horm Res Paediatr
. 2020 May;
93(1):16-29.
PMID: 32428920
Background: Congenital primary hypothyroidism (CH) is the most common endocrine disorder in neonates. Methods: To identify novel genes, we performed whole exome sequencing (WES) in 6 patients with CH due...
5.
Hoffmann S, Paone C, Sumer S, Diebold S, Weiss B, Roeth R, et al.
Front Genet
. 2019 Jul;
10:648.
PMID: 31354791
Sinus node dysfunction (SND) and atrial fibrillation (AF) often coexist; however, the molecular mechanisms linking both conditions remain elusive. Mutations in the homeobox-containing gene have been recently associated with early-onset...
6.
Pawlowski S, Lanzinger A, Dolich T, Fussl S, Salinas E, Zok S, et al.
Sci Total Environ
. 2019 Apr;
672:669-679.
PMID: 30974358
Octocrylene is used as UV filter in personal care products with a high production volume and can be detected in surface water and biota. It is liquid at ambient temperature,...
7.
Montalbano A, Juergensen L, Fukami M, Thiel C, Hauer N, Roeth R, et al.
Eur J Hum Genet
. 2018 May;
26(8):1113-1120.
PMID: 29706635
Height is a complex quantitative trait with a high heritability. Short stature is diagnosed when height is significantly below the average of the general population for that person's age and...
8.
Simm F, Griesbeck A, Choukair D, Weiss B, Paramasivam N, Klammt J, et al.
Genet Med
. 2017 Dec;
20(7):728-736.
PMID: 29261175
Purpose: Combined pituitary hormone deficiency (CPHD) is characterized by a malformed or underdeveloped pituitary gland resulting in an impaired pituitary hormone secretion. Several transcription factors have been described in its...
9.
de Sena Cortabitarte A, Degenhardt F, Strohmaier J, Lang M, Weiss B, Roeth R, et al.
Am J Med Genet B Neuropsychiatr Genet
. 2017 Apr;
174(4):390-398.
PMID: 28371232
The postsynaptic scaffolding protein SHANK3 is essential for the normal function of glutamatergic synapses in the brain. Emerging evidence suggests that impaired plasticity of glutamatergic synapses contributes to the pathology...
10.
Montalbano A, Juergensen L, Roeth R, Weiss B, Fukami M, Fricke-Otto S, et al.
EMBO Mol Med
. 2016 Nov;
8(12):1455-1469.
PMID: 27861128
Mutations in the homeobox gene SHOX cause SHOX deficiency, a condition with clinical manifestations ranging from short stature without dysmorphic signs to severe mesomelic skeletal dysplasia. In rare cases, individuals...