Gerd Scherer - Publications

Double Proton Tautomerism via Intra- or Intermolecular Pathways? The Case of Tetramethyl Reductic Acid Studied by Dynamic NMR: Hydrogen Bond Association, Solvent and Kinetic H/D Isotope Effects.

Journal: Molecules (Basel, Switzerland)

Published: May 24, 2021

Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: October 23, 2017

A mutation creating an upstream initiation codon in the SOX9 5' UTR causes acampomelic campomelic dysplasia.

Journal: Molecular genetics & genomic medicine

Published: December 23, 2016

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.

Journal: Clinical genetics

Published: December 11, 2016

Sox9 and Sox8 protect the adult testis from male-to-female genetic reprogramming and complete degeneration.

Journal: eLife

Published: February 29, 2016

FGFR2 mutation in 46,XY sex reversal with craniosynostosis.

Journal: Human molecular genetics

Published: May 15, 2015

Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.

Journal: Journal of medical genetics

Published: January 22, 2015

A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene.

Journal: Turk pediatri arsivi

Published: April 08, 2013

Genome-wide identification of Sox8-, and Sox9-dependent genes during early post-natal testis development in the mouse.

Journal: Andrology

Published: October 17, 2012

Clinical Utility Gene Card for: campomelic dysplasia.

Journal: European journal of human genetics : EJHG

Published: October 11, 2012

Sox9 and Sox8 are required for basal lamina integrity of testis cords and for suppression of FOXL2 during embryonic testis development in mice.

Journal: Biology of reproduction

Published: July 28, 2012

Tyrosinemia Type III detected via neonatal screening: management and outcome.

Journal: Molecular genetics and metabolism

Published: July 28, 2012