Publications by authors named "Birgit Weiss"

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Identification of novel genes including associated with isolated tall stature.
Birgit Weiss, Tim Ott, Philipp Vick, Julian C Lui, Ralph Roeth

Front Endocrinol (Lausanne)· December 2023

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Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes.
Birgit Weiss, Birgit Eberle, Ralph Roeth, Christiaan de Bruin, Julian C Lui

Front Endocrinol (Lausanne)· January 2022

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Identification of ZBTB26 as a Novel Risk Factor for Congenital Hypothyroidism.
Philipp Vick, Birgit Eberle, Daniela Choukair, Birgit Weiss, Ralph Roeth

Genes (Basel)· November 2021

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Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism.
Daniela Choukair, Birgit Eberle, Philipp Vick, Pia Hermanns, Birgit Weiss

Horm Res Paediatr· April 2021

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Evaluation of the bioaccumulation of octocrylene after dietary and aqueous exposure.
Sascha Pawlowski, Alexandra Christa Lanzinger, Thomas Dolich, Simone Füßl, Edward R Salinas, Birgit Weiss

Sci Total Environ· July 2019

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Functional Characterization of Rare Variants in the Gene Identified in Sinus Node Dysfunction and Atrial Fibrillation.
Sandra Hoffmann, Christoph Paone, Simon A Sumer, Sabrina Diebold, Birgit Weiss

Front Genet· July 2019

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Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature.
Antonino Montalbano, Lonny Juergensen, Maki Fukami, Christian T Thiel, Nadine H Hauer, Birgit Weiss

Eur J Hum Genet· August 2018

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Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency.
Franziska Simm, Anne Griesbeck, Daniela Choukair, Birgit Weiß, Nagarajan Paramasivam

Genet Med· July 2018

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Investigation of SHANK3 in schizophrenia.
Ana de Sena Cortabitarte, Franziska Degenhardt, Jana Strohmaier, Maren Lang, Birgit Weiss

Am J Med Genet B Neuropsychiatr Genet· June 2017

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Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.
Antonino Montalbano, Lonny Juergensen, Ralph Roeth, Birgit Weiss, Maki Fukami

EMBO Mol Med· December 2016

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Coding and non-coding variants in the SHOX2 gene in patients with early-onset atrial fibrillation.
Sandra Hoffmann, Sebastian Clauss, Ina M Berger, Birgit Weiß, Antonino Montalbano

Basic Res Cardiol· May 2016

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Compartment syndrome of the lower leg after punch biopsy.
Jörg Faulhaber, Heimo Ehmke, Wolfgang Koenen, Birgit Weiss, Sergij Goerdt

Dermatol Surg· February 2012

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Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
Simone Berkel, Christian R Marshall, Birgit Weiss, Jennifer Howe, Ralph Roeth

Nat Genet· June 2010

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BNP is a transcriptional target of the short stature homeobox gene SHOX.
Antonio Marchini, Beate Häcker, Tiina Marttila, Volker Hesse, Joyce Emons, Birgit Weiss

Hum Mol Genet· December 2007

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Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.
Nitin Sabherwal, Fiona Bangs, Ralph Röth, Birgit Weiss, Karin Jantz

Hum Mol Genet· January 2007

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Interchromosomal segmental duplications of the pericentromeric region on the human Y chromosome.
Stefan Kirsch, Birgit Weiss, Tracie L Miner, Robert H Waterston, Royden A Clark

Genome Res· February 2005

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Molecular and evolutionary analysis of the growth-controlling region on the human Y chromosome.
Stefan Kirsch, Birgit Weiss, Klaus Zumbach, Gudrun Rappold

Hum Genet· January 2004

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The definition of the Y chromosome growth-control gene (GCY) critical region: relevance of terminal and interstitial deletions.
Stefan Kirsch, Birgit Weiss, Karin Schön, Gudrun A Rappold

J Pediatr Endocrinol Metab· December 2002

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