Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

MK Javaid, A Boyce, N Appelman-Dijkstra… - Orphanet journal of rare …, 2019 - Springer
Abstract Fibrous Dysplasia/McCune Albright syndrome (FD/MAS) represents a wide
spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The …

[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 …

[图书][B] Pathology and genetics of tumours of endocrine organs

RA DeLellis - 2004 - books.google.com
This volume covers tumors of the pituary, the thyroid and parathyroid, the adrenal gland, the
endocrine pancreas, and inherited tumor syndromes. Each entity is extensively discussed …

McCune-albright syndrome

CE Dumitrescu, MT Collins - Orphanet journal of rare diseases, 2008 - Springer
McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous
dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). It is a rare …

Place of cabergoline in acromegaly: a meta-analysis

L Sandret, P Maison, P Chanson - The Journal of Clinical …, 2011 - academic.oup.com
Context: Cabergoline is widely considered to be poorly effective in acromegaly. Objective:
The aim of this study was to obtain a more accurate picture of the efficacy of cabergoline in …

McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia

MT Collins, FR Singer, E Eugster - Orphanet journal of rare diseases, 2012 - Springer
Fibrous dysplasia (FD) is sometimes accompanied by extraskeletal manifestations that can
include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such …

Acromegaly and mccune-albright syndrome

S Salenave, AM Boyce, MT Collins… - The Journal of Clinical …, 2014 - academic.oup.com
Background: McCune-Albright syndrome (MAS) includes the triad of poly/monostotic fibrous
dysplasia, café-au-lait spots, and hyperfunctioning endocrinopathies. Acromegaly affects …

The genetics of pituitary adenomas

C Tatsi, CA Stratakis - Journal of clinical medicine, 2019 - mdpi.com
The genetic landscape of pituitary adenomas (PAs) is diverse and many of the identified
cases remain of unclear pathogenetic mechanism. Germline genetic defects account for a …

Natural history and treatment of fibrous dysplasia of bone: a multicenter clinicopathologic study promoted by the European Pediatric Orthopaedic Society

E Ippolito, EW Bray, A Corsi, F De Maio… - Journal of Pediatric …, 2003 - journals.lww.com
A multicenter study on fibrous dysplasia of bone (FD) was promoted by the European
Pediatric Orthopaedic Society in 1999 in order to gain insight into the natural history of the …

Fracture incidence in polyostotic fibrous dysplasia and the McCune‐Albright syndrome

AI Leet, C Chebli, H Kushner, CC Chen… - Journal of Bone and …, 2004 - academic.oup.com
In patients with polyostotic fibrous dysplasia of bone, the peak incidence of fractures is
during the first decade of life, followed by a decrease thereafter. Phosphaturia is associated …