Gigantism
What's New
Last Posted: Mar 26, 2024
- Genetic diagnosis in acromegaly and gigantism: From research to clinical practice.
Claudia Ramírez-Rentería et al. Best Pract Res Clin Endocrinol Metab 2024 101892 - Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion.
Giampaolo Trivellin, et al. Frontiers in endocrinology 2023 0 1166076 - Phenotypic and genotypic features of a large kindred with a germline AIP variant.
Dal Jakob, et al. Clinical endocrinology 2020 0 (2) 146-153 - AIP mutations in Brazilian patients with sporadic pituitary adenomas: a single-center evaluation.
Araujo Paula Bruna, et al. Endocrine connections 2017 10 - AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience.
Ramírez-Rentería Claudia, et al. Endocrine 2016 3 - Analysis of GPR101 and AIP genes mutations in acromegaly: a multicentric study.
Ferraù Francesco, et al. Endocrine 2016 1 - GPR101 Mutations are not a Frequent Cause of Congenital Isolated Growth Hormone Deficiency.
Castinetti F, et al. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2016 1 - Do the aryl hydrocarbon receptor interacting protein variants (Q228K and Q307R) play a role in patients with familial and sporadic hormone-secreting pituitary adenomas?
Yarman Sema, et al. Genetic testing and molecular biomarkers 2015 7 (7) 394-8 - Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis.
Cuny Thomas, et al. European journal of endocrinology / European Federation of Endocrine Societies 2013 4 (4) 533-41 - Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study.
Daly Adrian F, et al. The Journal of clinical endocrinology and metabolism 2010 11 (11) E373-83 - Cerebral gigantism jaw cysts
From NCATS Genetic and Rare Diseases Information Center - Gigantism
From NCATS Genetic and Rare Diseases Information Center - Gigantism advanced bone age hoarse cry
From NCATS Genetic and Rare Diseases Information Center - Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas.
Cazabat Laure, et al. European journal of endocrinology / European Federation of Endocrine Societies 2007 7 (1) 1-8 - Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers.
Georgitsi M, et al. British journal of cancer 2007 1 (2) 352-6
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 18, 2024
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