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European Journal of Human Genetics : EJHG|November 30, 2022
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing lossAnne Sophie Neyroud, Joëlle Rudinger-Thirion, Magali Frugier, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 17, 2015
Assessment of first and second degree relatives of individuals with bipolar disorder shows increased genetic risk scores in both affected relatives and young At-Risk IndividualsJanice M Fullerton, Daniel L Koller, Howard J Edenberg, et al.
BMC Neurology|August 30, 2008
Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9Agnes A Luty, John B J Kwok, Elizabeth M Thompson, et al.
The Journal of Biological Chemistry|December 21, 2002
Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophyJohn B J Kwok, Glenda M Halliday, William S Brooks, et al.
Plos One|January 28, 2015
Investigating the genetics of hippocampal volume in older adults without dementiaKaren A Mather, Nicola J Armstrong, Wei Wen, et al.
Stem Cell Research|March 8, 2024
Generation of heterozygous (MCRIi030-A-1) and homozygous (MCRIi030-A-2) NR2F2/COUP-TFII knockout human iPSC linesLucas G A Ferreira, Mauricio C Cabral-da-Silva, Svenja Pachernegg, et al.
Molecular and Cellular Endocrinology|January 9, 2025
Functional analysis of SRY variants in individuals with 46,XY differences of sex developmentFirman P Idris, Jocelyn van den Bergen, Gorjana Robevska, et al.
Plos One|October 21, 2017
XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris)Vicki N Meyers-Wallen, Adam R Boyko, Charles G Danko, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|January 30, 2003
Genetic refinement and physical mapping of a 2.3 Mb probable disease region associated with a bipolar affective disorder susceptibility locus on chromosome 4q35Renee F Badenhop, Melissa J Moses, Anna Scimone, et al.
Disease Models & Mechanisms|June 27, 2013
Endogenous progesterone levels and frontotemporal dementia: modulation of TDP-43 and Tau levels in vitro and treatment of the A315T TARDBP mouse modelTheresa N T Dang, Carol Dobson-Stone, Elias N Glaros, et al.
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