Found: 12
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Description of 22 new alpha-1 antitrypsin genetic variants.
- Published in:
- 2018
- By:
- Publication type:
- letter
Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'étude des Tumeurs Endocrines (GTE) cohort study.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 10, p. 1940, doi. 10.1093/hmg/ddt039
- By:
- Publication type:
- Article
Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling?
- Published in:
- European Journal of Endocrinology, 2022, v. 187, n. 1, p. K1, doi. 10.1530/EJE-22-0171
- By:
- Publication type:
- Article
Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism?
- Published in:
- European Journal of Endocrinology, 2020, v. 182, n. 1, p. 57, doi. 10.1530/EJE-19-0641
- By:
- Publication type:
- Article
Diagnosis of mosaic mutations in the MEN1 gene by next generation sequencing.
- Published in:
- European Journal of Endocrinology, 2019, v. 180, n. 2, p. L1, doi. 10.1530/EJE-18-0852
- By:
- Publication type:
- Article
Serum Succinate/Fumarate Ratio in Patients With Paraganglioma/Pheochromocytoma Attending an Endocrine Oncogenetic Unit.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 9, p. 2343, doi. 10.1210/clinem/dgad109
- By:
- Publication type:
- Article
Value of Somatostatin Receptor PET/CT in Patients With MEN1 at Various Stages of Their Disease.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 5, p. e2056, doi. 10.1210/clinem/dgab891
- By:
- Publication type:
- Article
Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA™) and heteroduplex analysis.
- Published in:
- Electrophoresis, 2003, v. 24, n. 1/2, p. 26, doi. 10.1002/elps.200390023
- By:
- Publication type:
- Article
A large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of CDC73: clinical and molecular features.
- Published in:
- Endocrine (1355008X), 2021, v. 73, n. 3, p. 693, doi. 10.1007/s12020-021-02756-4
- By:
- Publication type:
- Article
Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations.
- Published in:
- Human Mutation, 2020, v. 41, n. 1, p. 222, doi. 10.1002/humu.23912
- By:
- Publication type:
- Article
Proposition of adjustments to the ACMG‐AMP framework for the interpretation of MEN1 missense variants.
- Published in:
- Human Mutation, 2019, v. 40, n. 6, p. 661, doi. 10.1002/humu.23746
- By:
- Publication type:
- Article
UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population.
- Published in:
- 2018
- By:
- Publication type:
- journal article