Associated Papers
Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome.
Chen N et al.
Journal of Medical Genetics, 2026
41233206 (PubMed )
Supplement: jmg-63-2-s002.xlsx › Supplementary_Table_5
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease.
Ceccarini G et al.
Frontiers in Endocrinology, 2020
A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy.
Broekema MF et al.
Frontiers in Physiology, 2018
30319454 (PubMed )
Supplement: Data_Sheet_1.pdf
Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism.
Hegele RA et al.
Journal of Lipid Research, 2007
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.
Agarwal AK et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
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