Results 81 to 90 of about 10,132 (283)
Gastrointestinal polyps in McCune Albright syndrome [PDF]
Journal of Medical Genetics, 2011 McCune Albright syndrome (MAS), a disorder caused by somatic activating mutations in the GNAS gene, usually presents with cutaneous, skeletal, and endocrine manifestations. While focal lesions involving multiple tissues have been identified in MAS, almost nothing is known about gastrointestinal lesions in this disease.Two MAS patients with perioral ...
Zacharin, Margaret +6 more
openaire +3 more sources
Maxillary fibrous dysplasia associated with McCune-Albright syndrome. A case study
Open Medicine, 2016 McCune Albright syndrome (MCA) is a rare complication of genetic origin. The authors present a case study of a patient with MCA diagnosed with multifocal fibrous dysplasia in his limb and craniofacial bones.
Wójcik Sylwia +4 more
doaj +1 more source
Occurrence of testicular microlithiasis in androgen insensitive hypogonadal mice [PDF]
, 2009 <b>Background</b>: Testicular microliths are calcifications found within the seminiferous tubules. In humans, testicular microlithiasis (TM) has an unknown etiology but may be significantly associated with testicular germ cell tumors ...
AC Peterson +24 more
core +2 more sources
Cureus, 2022 McCune-Albright syndrome (MAS) is a complex endocrinopathy with polyostotic fibrous dysplasia and café-au-lait spots. Pathological femoral shaft fracture along with MAS is not a common occurrence.
Kuldeep Bansal +4 more
semanticscholar +1 more source
A Dominant Mutation in Gαs‐Protein Increases Hair Pigmentation
Pigment Cell &Melanoma Research, Volume 38, Issue 3, May 2025.ABSTRACT We have identified a chemically induced mouse mutation which increases the eumelanic hair pigmentation. We identify a coding mutation, A3533G, resulting in an amino acid substitution Y1133C, in the Gnas gene encoding the Gαs subunit of the tripartite G‐protein, consistent with an activation of signalling via MC1R.
Philip S. Goff +8 more
wiley +1 more source
European Journal of Radiology Open, 2020 The fibrous dysplasia of bone is painless, benign, and slowly progressive bone lesion. It may rarely become aggressive by compression of adjacent organs or malignant transformation.
Lynda N. Bile-Gui +2 more
doaj
Jaffe Lichtenstein Type Polyostotic Fibrous Dysplasia with Unilateral Absent Testis [PDF]
Journal of Clinical and Diagnostic Research, 2018 Fibrous dysplasias are developmental bone disorders in which the medullary cavity is replaced by fibrous tissue. It can be monostotic involving a single bone or polyostotic involving multiple bones.
Anand Ramakrishnan +3 more
doaj +1 more source
Optimal Single-Shot Decoding of Quantum Codes [PDF]
arXiv, 2023 We discuss single-shot decoding of quantum Calderbank-Shor-Steane codes with faulty syndrome measurements. We state the problem as a joint source-channel coding problem. By adding redundant rows to the code's parity-check matrix we obtain an additional syndrome error correcting code which addresses faulty syndrome measurements.
arxiv
Secondary amenorrhea in a case of gonadotropin independent precocious puberty: McCune-Albright syndrome [PDF]
, 2021 Precocious puberty may be gonadotropin dependent or gonadotropin independent and due to a myriad of causes including syndromic association. McCune-Albright syndrome (MAS) is a rare disorder, characterized by the triad of precocious puberty, polyostotic ...
Jayaraman, Sangumani +4 more
core +2 more sources
A rare pediatric case of McCune–Albright syndrome with acute visual disturbance
Medicine, 2022 Rationale: McCune–Albright syndrome (MAS) is a rare disorder characterized by clinical findings, which includes fibrous dysplasia (FD). FD is a benign tumor that leads to increased rates of bone fracture.
H. Ninomiya +14 more
semanticscholar +1 more source