Associated Papers
Genomic characterization of small cell carcinomas of the uterine cervix.
Schultheis AM et al.
Molecular Oncology, 2022
33830625 (PubMed )
Supplement: MOL2-16-833-s001.pdf
Oral Cavity Squamous Cell Carcinoma Xenografts Retain Complex Genotypes and Intertumor Molecular Heterogeneity.
Campbell KM et al.
Cell Reports, 2018
30134176 (PubMed )
Supplement: NIHMS1520774-supplement-Table_S2.xlsx › Patient_2
Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma.
Jallades L et al.
Haematologica, 2017
28751561 (PubMed )
Supplement: 2016.160192.JALLADES_SUPPL.pdf
Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.
Chan LF et al.
Hormone Research, 2008
Adrenocorticotropin resistance syndromes.
Cooray SN et al.
Endocrine Development, 2008
Familial glucocorticoid deficiency type 1 due to a novel compound heterozygous MC2R mutation.
Mazur A et al.
Hormone Research, 2008
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
A novel presentation of familial glucocorticoid deficiency (FGD) and current literature review.
Selva KA et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2004
Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay.
Flück CE et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Functional relationships between three novel homozygous mutations in the ACTH receptor gene and familial glucocorticoid deficiency.
Penhoat A et al.
Journal of Molecular Medicine (berlin, Germany), 2002
Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency.
Naville D et al.
The Journal of Clinical Endocrinology and Metabolism, 1996
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