Výsledky vyhledávání - "Birgit Eberle"

Akademický článek

Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes

Autor: Birgit Weiss, Birgit Eberle, Ralph Roeth, Christiaan de Bruin, Julian C. Lui, Nagarajan Paramasivam, Katrin Hinderhofer, Hermine A. van Duyvenvoorde, Jeffrey Baron, Jan M. Wit, Gudrun A. Rappold

Publikováno v: Frontiers in Endocrinology, Vol 12 (2021)

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 tall stature. Besides rare variants with large effects and common risk a

Externí odkaz: https://doaj.org/article/085206a3981340ad9e5aca2df8e28d69

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Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism

Autor: Katharina Lornsen, Georg F. Hoffmann, Nagarajan Paramasivam, Joachim Pohlenz, Birgit Weiss, Matthias Schlesner, Carina Klutmann, Gudrun A. Rappold, Birgit Eberle, Ralph Roeth, Markus Bettendorf, Pia Hermanns, Philipp Vick, Daniela Choukair, Jennifer Kreis

Publikováno v: Hormone Research in Paediatrics. 93:16-29

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 to thyroid dysgenesis (TD). The potential effe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2280ef8bb0638fba3b2ebbbc47220218
https://doi.org/10.1159/000507114

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Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes

Autor: Nagarajan Paramasivam, Birgit Weiss, Birgit Eberle, Christiaan de Bruin, Jan M. Wit, Ralph Roeth, Katrin Hinderhofer, Jeffrey Baron, Hermine A van Duyvenvoorde, Julian C. Lui, Gudrun A. Rappold

Publikováno v: Frontiers in Endocrinology
Frontiers in Endocrinology, Vol 12 (2021)
Frontiers in Endocrinology, 12. FRONTIERS MEDIA SA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efa8b411d81dac424cf369f1593265d4
https://doi.org/10.3389/fendo.2021.660731

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Identification of ZBTB26 as a Novel Risk Factor for Congenital Hypothyroidism

Autor: Birgit Eberle, Birgit Weiss, Philipp Vick, Gudrun A. Rappold, Isabelle Schneider, Daniela Choukair, Nagarajan Paramasivam, Ralph Roeth, Markus Bettendorf

Publikováno v: Genes; Volume 12; Issue 12; Pages: 1862
Genes
Genes, Vol 12, Iss 1862, p 1862 (2021)

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 with congenital hypothyro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50e1aebf5569b4f93232877400a0fdb4
https://doi.org/10.3390/genes12121862

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Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism

Autor: Daniela, Choukair, Birgit, Eberle, Philipp, Vick, Pia, Hermanns, Birgit, Weiss, Nagarajan, Paramasivam, Matthias, Schlesner, Katharina, Lornsen, Ralph, Roeth, Carina, Klutmann, Jennifer, Kreis, Georg F, Hoffmann, Joachim, Pohlenz, Gudrun A, Rappold, Markus, Bettendorf

Publikováno v: Hormone research in paediatrics. 93(1)

Congenital primary hypothyroidism (CH) is the most common endocrine disorder in neonates.To identify novel genes, we performed whole exome sequencing (WES) in 6 patients with CH due to thyroid dysgenesis (TD). The potential effects of the most releva

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8e9d9c09495dfc0f3a171008ed52542b
https://pubmed.ncbi.nlm.nih.gov/32428920

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Relic Neutrino Absorption Spectroscopy

Autor: Thomas J. Weiler, Liguo Song, Andreas Ringwald, Birgit Eberle

Publikováno v: Physical review / D 70(2), 023007 (2004). doi:10.1103/PhysRevD.70.023007

Resonant annihilation of extremely high-energy cosmic neutrinos on big-bang relic anti-neutrinos (and vice versa) into Z-bosons leads to sizable absorption dips in the neutrino flux to be observed at Earth. The high-energy edges of these dips are fix

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afa3a02339f628724267d8c7c58ae4a2
http://arxiv.org/abs/hep-ph/0401203

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