Results 151 to 160 of about 10,204 (285)

Síndrome de McCune-Albrigth: Evaluación del Compromiso Craneofacial y de Columna por Imágenes de Resonancia Magnética McCune-Albright syndrome: Evaluation of craniofacial and spinal alterations on MRI

Revista Argentina de Radiología, 2011
Se presenta a un paciente de sexo femenino de 27 años de edad con el cuadro clásico de Síndrome de Mc Cune- Albright, caracterizado por: pubertad precoz, manchas color café con leche, displasia fibrosa poliostótica y gigantismo.
Javier Garcés, Martín Munduteguy, Carlos Romero, Juan Mazzucco   +3 more
doaj  

Improved Molecular Diagnosis of McCune-Albright Syndrome and Bone Fibrous Dysplasia by Digital PCR [PDF]

, 2019
McCune-Albright syndrome (MAS) is a rare congenital disorder characterized by the association of endocrine and nonendocrine anomalies caused by somatic activating variants of GNAS.
A. Pirelli, F.M. Elli, G. Mantovani, I. Galliano, L. de Sanctis, M. Arosio, M. Bergallo, M.A. Maffini, P. Bordogna   +8 more
core   +1 more source

McCune Albright syndrome: an endocrine medley

BMJ Case Reports, 2019
McCune Albright syndromeis a rare disorder that presents with multiple endocrine abnormalities. We report the case of a 24-year-old woman who presented with right lower limb pain, with no preceding trauma or fracture. On examination she was noted to have coarsened facial features, acral enlargement, bitemporal hemianopia, galactorrhoea and multiple ...
Thomas V Paul, H S Asha, Remya Rajan, Kripa Elizabeth Cherian   +3 more
openaire   +4 more sources

Digital clubbing in a patient with McCune Albright syndrome [PDF]

, 1994
F. Kelestimur, Cengiz Utaş, Nur Sinem Özcan, F Balkar, Ekrem Karakaş   +4 more
openalex   +1 more source

Estimating detector error models from syndrome data [PDF]

arXiv
Protecting quantum information using quantum error correction (QEC) requires repeatedly measuring stabilizers to extract error syndromes that are used to identify and correct errors. Syndrome extraction data provides information about the processes that cause errors.
arxiv  

Fibrous dysplasia of bone: a clinicopathologic review

Pathology and Laboratory Medicine International, 2011
Harsh Mohan1, Preeti Mittal1, Irneet Mundi1, Sudhir Kumar21Department of Pathology, 2Department of Orthopedics, Government Medical College, Sector 32, Chandigarh, IndiaAbstract: Fibrous dysplasia of the bones is an uncommon congenital skeletal disorder ...
Mohan H, Mittal P, Mundi I, Kumar S
doaj  

Severe Neonatal Cholestasis as an Early Presentation of McCune- Albright Syndrome

JCRPE, 2019
McCune-Albright syndrome (MAS) is a rare genetic disorder characterized by café-au-lait macules, polyostotic fibrous dysplasia and multiple endocrinopathies. Liver involvement, although described, is a rare complication.
Nicole Coles, Ian Comeau, Tatiana Munoz, Jennifer Harrington, Roberto Mendoza-Londono, Andreas Schulze, Sari Kives, Binita M. Kamath, Jill Hamilton   +8 more
doaj   +1 more source

Resistência ao hormônio tireoidiano detectada por meio da triagem neonatal [PDF]

We report the clinical and laboratory findings, and molecular analysis of a Brazilian patient with resistance to thyroid hormone syndrome (RTH) detected by neonatal screening. The index case was born at term by normal delivery with 2,920 g and 45 cm. TSH
MACIEL, Léa Maria Zanini, MAGALHÃES, Patrícia Künzle Ribeiro   +1 more
core   +1 more source

McCune-Albright Syndrome: Growth Hormone Dynamics in Pregnancy [PDF]

, 2001
K. Obuobie
openalex   +1 more source

Characterization ofgsp-Mediated Growth Hormone Excess in the Context of McCune-Albright Syndrome [PDF]

, 2002
Sunday O. Akintoye, Caroline Chebli, Susan Booher, Penelope Feuillan, Harvey Kushner, Derek LeRoith, Natasha Cherman, Paolo Bianco, Shlomo Wientroub, Pamela Gehron Robey, Michael T. Collins   +10 more
openalex   +1 more source