[PDF][PDF] Fibrous Dysplasia/McCune-Albright Syndrome: A Rare, Mosaic Disease of Gα s Activation

AM Boyce, MT Collins - Endocrine reviews, 2020 - academic.oup.com
Abstract Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare disorder of
striking complexity. It arises from somatic, gain-of-function mutations in GNAS, leading to …

[HTML][HTML] Fibrous dysplasia/mccune-albright syndrome

AM Boyce, P Florenzano, LF de Castro, MT Collins - 2019 - europepmc.org
Fibrous dysplasia/McCune-Albright syndrome (FD/MAS), the result of an early embryonic
postzygotic somatic activating pathogenic variant in GNAS (encoding the cAMP pathway …

The clinical spectrum of McCune-Albright syndrome and its management

T Spencer, KS Pan, MT Collins… - Hormone research in …, 2020 - karger.com
McCune-Albright syndrome (MAS) is a rare, mosaic disorder presenting along a broad
clinical spectrum. Disease arises from somatic-activating GNAS mutations, leading to …

The causes and consequences of pituitary gigantism

A Beckers, P Petrossians, J Hanson… - Nature Reviews …, 2018 - nature.com
In the general population, height is determined by a complex interplay between genetic and
environmental factors. Pituitary gigantism is a rare but very important subgroup of patients …

[HTML][HTML] Modeling plasticity and dysplasia of pancreatic ductal organoids derived from human pluripotent stem cells

M Breunig, J Merkle, M Wagner, MK Melzer, TFE Barth… - Cell Stem Cell, 2021 - cell.com
Personalized in vitro models for dysplasia and carcinogenesis in the pancreas have been
constrained by insufficient differentiation of human pluripotent stem cells (hPSCs) into the …

Café au lait macules and associated genetic syndromes

S Anderson - Journal of Pediatric Health Care, 2020 - Elsevier
Café au lait macules (CALMs) are a common, isolated dermatologic finding in the general
population. But when do these irregularly shaped, jagged-edged, flat, hyperpigmented …

Burosumab treatment for fibrous dysplasia

A Gladding, V Szymczuk, BA Auble, AM Boyce - Bone, 2021 - Elsevier
Abstract Background Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare
mosaic disorder of Gα s activation. Fibroblast Growth Factor 23 (FGF23)-mediated …

Non‐conventional dysplasias of the tubular gut: a review and illustration of their histomorphological spectrum

D Pereira, B Kővári, I Brown, P Chaves… - …, 2021 - Wiley Online Library
The increasing use of gastrointestinal endoscopic procedures has led to the recognition by
histopathologists of non‐conventional (or special‐type) dysplasias of the gastrointestinal …

[HTML][HTML] Клинические рекомендации «Преждевременное половое развитие»

ВА Петеркова, ИЛ Алимова, ЕБ Башнина… - Проблемы …, 2021 - cyberleninka.ru
Преждевременное половое развитие является актуальной проблемой детской
эндокринологии, характеризующейся клинической и патогенетической …

A review of mucinous cystic and Intraductal neoplasms of the Pancreatobiliary tract: recent advances

K Ozcan, DS Klimstra - Archives of Pathology & Laboratory …, 2022 - meridian.allenpress.com
Context.—Although most pancreatic and bile duct neoplasms are solid, mucinous cystic
neoplasms and intraductal neoplasms have been increasingly recognized even when …