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TranscriptomicsCGH + SNP microarray analysis in consanguineous family with ovarian dysgenesis
homozygosity mapping in a family with ovarian failure Two affected and four unafected siblings from consanguineous family were studied to identify shared regions of homozygosity in affected females with gonadal dysgenesis
ORGANISM(S): Homo sapiens 
2014-10-16 | E-GEOD-62347 | biostudies-arrayexpress
TranscriptomicsTranscription profiling of gonadal somatic cells from gonads of male and female transgenic pSF1-eGFP mice
Gene expression profiling of FACS sorted GFP+ve cells from sexed gonads of transgenic pSF1-eGFP mice
ORGANISM(S): Mus musculus 
2007-12-15 | E-GEOD-3463 | biostudies-arrayexpress
UnknownMAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.
Not available
S-EPMC5489227 | biostudies-literature
UnknownSTARD9 and CDK5RAP2-Novel Candidate Genes for 46,XY Complete Gonadal Dysgenesis.
Not available
S-EPMC12692329 | biostudies-literature
Unknown46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing.
Not available
S-EPMC4490300 | biostudies-literature
ProteomicsVariants in SART3 cause a novel spliceosomopathy characterised by failure of testis development and neuronal defects
Squamous cell carcinoma antigen recognized by T cells 3 (SART3) is an RNA binding protein that regulates a diverse array of biological processes, including recycling small nuclear ribonucleic acids (snRNAs) back to the spliceosome. Here we describe nine individuals from six independent families with...
ORGANISM(S): Homo sapiens (Human) 
2023-06-11 | PXD032816 | Pride
Gonadal dysgenesis 46 Neurodevelopmental disorder Spliceosome Xy dsd Sart3 Tip110 
UnknownIs interstitial 8p23 microdeletion responsible of 46,XY gonadal dysgenesis? One case report from birth to puberty.
Not available
S-EPMC6418366 | biostudies-literature
UnknownA de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis.
Not available
S-EPMC6863645 | biostudies-literature
Genomics
genetic variants of 46,XY gonadal dysgenesis using whole-exome sequencing
PRJNA1243706 | ENA
UnknownPathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.
Not available
S-EPMC6944638 | biostudies-literature
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