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Annals of Endocrinology (Annales D'Endocrinologie, English Edition), ISSN 0003-4266, 2012, Volume 73, Issue 2, pp. 59 - 61
Abstract MEN1 gene mutations predispose carriers to pituitary tumors. Molecular pathways involved in the development of these tumors seem different to what is... 
Internal Medicine | Endocrinology & Metabolism | GENE | PROLACTINOMA | MUTATION | DISEASE | ENDOCRINOLOGY & METABOLISM | ENDOCRINE NEOPLASIA TYPE-1 | VARIANT | TUMORS
Journal Article
Journal of Clinical Oncology, ISSN 0732-183X, 12/2005, Volume 23, Issue 34, pp. 8812 - 8818
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 930 - 938
Purpose: Primary ovarian insufficiency (POI) is a frequent disorder that affects similar to 1% of women under 40 years of age. POI, which is characterized by... 
infertility | autophagy | ovarian reserve | MUTATIONS ACCOUNT | GENETICS | GENETICS & HEREDITY | ARCHITECTURE | SEQUENCE VARIANTS
Journal Article
Clinical Endocrinology, ISSN 0300-0664, 08/2018, Volume 89, Issue 2, pp. 245 - 246
Recently, it has been reported the first mutation in the KHDRBS1 gene related to primary ovarian insufficiency (POI) aetiology. Next generation sequencing... 
SAM68 | SEQUENCE VARIANTS | ENDOCRINOLOGY & METABOLISM
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 08/2016, Volume 37, Issue 8, pp. 794 - 803
Journal Article
Journal Article
European Journal of Endocrinology, ISSN 0804-4643, 10/2011, Volume 165, Issue 4, pp. 509 - 515
Journal Article
Annales d'Endocrinologie, ISSN 0003-4266, 04/2019, Volume 80, Issue 2, pp. 110 - 116
Acromegaly can impair quality of life, but impact on patients’ daily life, needs and expectations have been poorly explored. To better understand the impact of... 
Impact | Expectations | Vie quotidienne | Besoins | e-Survey | Needs | Acromegaly | Retentissement | Enquête internet | Attentes | Acromégalie | Daily life | ENDOCRINOLOGY & METABOLISM | QUALITY-OF-LIFE | PREVALENCE | PITUITARY-ADENOMAS | REMISSION
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 05/2014, Volume 99, Issue 5, pp. 1623 - 1630
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 12/2016, Volume 101, Issue 12, pp. 4541 - 4550
Context: Idiopathic primary ovarian insufficiency (POI) is a major cause of amenorrhea and infertility. POI affects 1% of women before age 40 years, and... 
SOHLH1 | TRANSCRIPTION | ENDOCRINOLOGY & METABOLISM | COHESIN | NOBOX | OF-FUNCTION MUTATIONS | DIFFERENTIATION | HYPOGONADOTROPIC HYPOGONADISM | FAILURE | EXPRESSION | CHROMOSOMAL INSTABILITY | Young Adult | Phenotype | Humans | Adolescent | Primary Ovarian Insufficiency - genetics | Adult | Female | Genotype | Genetic Loci | Mutation | Sequence Analysis, DNA
Journal Article