Results 1 to 10 of about 491 (123)

Identification of a novel TGFB1 variant in a patient with Camurati-Engelmann disease responsive to alendronate. [PDF]

Rheumatology (Oxford)
Whole genome sequencing and alendronate may be of value in diagnosing and managing CED ...
Hassan N, Gregson CL, Oldridge M, Lester T, Duncan EL, Tobias JH.   +5 more
europepmc   +4 more sources

Progressive diaphysiary dysplasia or Camurati-Engelmann syndrome: First case with molecular analysis in Mexico

Journal of Clinical and Translational Endocrinology Case Reports
This is a report of the first case of Progressive Diaphyseal Dysplasia (PDD) with molecular diagnosis in Mexico. Is a 35-year-old woman with a medical history of stabilization of the dorsal spine for correcting scoliosis at eight years.
De la Torre-Saldaña Viridiana Abigahy, Durán-Pérez Edgar Gerardo, Hidalgo-Bravo Alberto, Reza-Albarrán Alfredo Adolfo   +3 more
doaj   +2 more sources

The Genetic Architecture of High Bone Mass. [PDF]

Front Endocrinol (Lausanne), 2020
The phenotypic trait of high bone mass (HBM) is an excellent example of the nexus between common and rare disease genetics. HBM may arise from carriage of many 'high bone mineral density [BMD]'-associated alleles, and certainly the genetic architecture ...
Gregson CL, Duncan EL.
europepmc   +4 more sources

Case Report: The role of bone scans in detecting Ribbing disease. [PDF]

Front Nucl Med
In this case, we report the usefulness of bone scintigraphy in evaluating osteoarticular pain when the diagnosis is unclear after standard morphological imaging. A 24-year-old male patient exhibited mild left tibial pain that had been intensifying over a
Dambrain A, Bouron C, Lacoeuille F.
europepmc   +3 more sources

Skeletal Dysplasia Presenting as a Neuromuscular Disorder - Report of a Family with Camurati-Engelmann Syndrome. [PDF]

Maedica (Bucur), 2015
We report the case of a 28-year-old female with progressive diaphyseal dysplasia, who presented with history of a similar neuromuscular condition. Clinical, radiological and molecular data confirmed Camurati-Engelmann Disease (CED). This is the first Romanian family who was diagnosed with CED.
Plaiasu V, Costin A.
europepmc   +2 more sources

Leveraging generative AI to assist biocuration of medical actions for rare disease. [PDF]

Bioinform Adv
Motivation Structured representations of clinical data can support computational analysis of individuals and cohorts, and ontologies representing disease entities and phenotypic abnormalities are now commonly used for translational research.
Niyonkuru E, Caufield JH, Carmody LC, Gargano MA, Toro S, Whetzel PL, Blau H, Soto Gomez M, Casiraghi E, Chimirri L, Reese JT, Valentini G, Haendel MA, Mungall CJ, Robinson PN.   +14 more
europepmc   +3 more sources

Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients [PDF]

, 2020
BACKGROUND: Neuromuscular disorders (NMDs) comprise a group of heterogeneous genetic diseases with a broad spectrum of overlapping the clinical presentations that makes diagnosis challenging.
Chan, SHS, Chiu, ATG, Chung, BHY, Fung, JLF, Ho, WHL, Kwong, BMH, Leung, GKC, Liang, R, Mak, CCY, Muntoni, F, Pei, SLC, Tsang, MHY, Wong, VCN, Yeung, K-S, Yu, MHC   +14 more
core   +4 more sources

Modeling-based bone formation transforms trabeculae to cortical bone in the sclerotic areas in Buschke-Ollendorff syndrome. A case study of two females with LEMD3 variants [PDF]

, 2020
Buschke-Ollendorff syndrome is a rare autosomal dominant condition caused by pathogenic variants in LEMD3 and characterized by connective tissue nevi and sclerotic bone abnormalities known as osteopoikilosis.
Andersen, T L, Andreasen, C M, Bygum, A, Ejersted, C, Frederiksen, A L, Frost, M, Høilund-Carlsen, P F, Rahbek, E T, Thomsen, J S   +8 more
core   +1 more source

Tissue-specific calibration of extracellular matrix material properties by transforming growth factor-beta and Runx2 in bone is required for hearing [PDF]

, 2010
Publisher version: http://www.nature.com/embor/journal/v11/n10/full/embor2010135.htmlDA - 20100917 IS - 1469-3178 (Electronic) IS - 1469-221X (Linking) LA - ENG PT - JOURNAL ARTICLEDA - 20100917 IS - 1469-3178 (Electronic) IS - 1469-221X (Linking) LA ...
Alexandra E Porter, Anil Lalwani, Carol G Chen, Currey JD, Delia S Brauer, Emily N Chin, Filvaroff E, Grayson W Marshall, Guive Balooch, Higashi K, Jacob Johnson, Jolie L Chang, Kristin Butcher, Lawrence Lustig, Mary Beth Humphrey, Omar Akil, Richard A Schneider, Rik Derynck, Robert O Ritchie, Sally J Marshall, Sorensen MS, Tamara Alliston   +21 more
core   +1 more source

Kuulmislangus osteogenesis imperfecta haigetel. Haigusjuht. Kirjanduse ülevaade [PDF]

, 2017
29 aasta vanune naispatsient pöördus erakorralisena TÜ Kliinikumi kõrvakliinikusse seoses mõlemapoolse äkk-kuulmisnõrkusega. Patsiendi ülevaatuse järel oli esmaseks diagnoosiks idiopaatiline äkk-kuulmislangus, mida iseloomustab teadmata põhjusega ägeda ...
Chetverikova, Evgenia, Kasenõmm, Priit, Lepplaan, Maret   +2 more
core   +2 more sources