Results 61 to 70 of about 6,213,342 (156)

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   +1 more source

Zufallsbefund einer progressiven diaphysären Dysplasie (Camurati-Engelmann-Syndrom)

, 1993
ZusammenfassungWir berichten über eine 35jährige Patientin, bei der als Zufallsbefund während einer Phlebographie vor Varizenoperation hyperostotische Veränderungen in Femur- und Tibiadiaphysen im Sinne eines Camurati-Engelmann-Syndroms aufgefallen waren.
R. Bares, U. Büll, C. Altehoefer, Büll, Udalrich, Altehoefer, C., Grün, B., Bares, R., B. Grün   +7 more
core   +1 more source

Camurati-Engelmann disease in a family from Croatian Island: an old bone scan confirmed pattern of inheritance [Camurati-Englemannova bolest u obitelji s Hrvatskog otoka: stara snimka kostiju potvrdila je obrazac nasljeđivanja] [PDF]

, 2014
34-year old patient had history of muscular wasting, easy fatigability, pain in extremities and waddling gait since age of four. During the time, neuromuscular disease was suspected, but not confirmed.
Baretić, Maja, Potočki, Kristina, Herceg Horvatić, Gordana, Crnčević Orlić, Željka, Koršić, Mirko   +4 more
core   +1 more source

A rare combination of endocrinopathies associated with Camurati-Engelmann disease.

, 2013
A case report of a patient with the rare autosomal dominant Camurati-Engelmann Disease (CED) associated with primary hypothyroidism, hypogonadotrophic hypogonadism and central diabetes insipidus is discussed.
Kamaruddin, Nor Azmi, Mustafa, Norlaila, Ooi, Cheow Peng, Zainudin, Suehazlyn, Abd Wahab, Norasyikin   +4 more
core   +1 more source

Transforming Growth Factor-β1 Mutations in Camurati-Engelmann Disease Lead to Increased Signaling by Altering either Activation or Secretion of the Mutant Protein

, 2003
: Transforming growth factor-beta1 (TGF-beta1) is secreted as a latent precursor, consisting of a homodimer of the latency-associated peptide and the mature peptide.
Janssens, Katrien, Ralston, Stuart H., Bergmann, Carsten, ten Dijke, Peter, van Hul, Wim   +4 more
core   +1 more source

A case of sclerosing bone dysplasia from 16th century Sardinia: Camurati-Engelmann disease? [PDF]

, 2019
The skeletal remains of a male aged 45-55 years displaying several bone anomalies were unearthed from the Alghero plague cemetery “lo Quarter”, a burial site dating back to the 1582-1583 AD outbreak.
CARAMELLA D, MILANESE M., GIUFFRA V
core  

DataSheet_1_Aberrant activation of TGF-β1 induces high bone turnover via Rho GTPases-mediated cytoskeletal remodeling in Camurati-Engelmann disease.docx

, 2022
In the adult skeleton, the bone remodeling process involves a dynamic coordination between osteoblasts and osteoclasts, which is disrupted in diseases with high bone turnover rates and dysregulated transforming growth factor beta 1 (TGF-β1).
Lidangzhi Mo (13966740), Zhen Wang (72451), Fangfang Liu (185161), Rui Li (4631), Bowen Li (200859), Yuanming Wu (307017), Weihong Hu (2087356), Xihui Chen (6477335), Qi Chen (144168), Mengjie Zhang (4479322), Yan Yao (229656), Yaoping Wu (104312), Kun Chen (131048)   +12 more
core   +1 more source

Camurati-Engelmann hastaliǧi ve osteoporoz: Olgu sunumu Case report: Camurati-Engelmann disease and osteoporosis

, 2011
Progressive diaphyseal dysplasia, also known as Camurati-Engelmann disease (CED), is a rare autosomal dominant bone disorder caused by mutations in the transforming growth factor beta 1 (TGF-β1) gene and characterized by cortical thickening of the ...
Zamberlan, Silvia, Akarirmak, Ülkü, Misirlioǧlu, Tuğçe, Sari, Hidayet, Irem Örnek, Nurettin, Gün, Kerem, Uludaǧ, Murat   +6 more
core  

Camurati-Engelmann disease (progressive diaphyseal dysplasia) : reports of an Indian kindred

, 2014
: Camurati-Engelmann disease (CED, OMIM 131300), or progressive diaphyseal dysplasia, is a rare autosomal dominant skeletal dysplasia, caused by mutations in the transforming growth factor-beta 1 (TGF beta 1) gene. We describe the first Indian CED family
Bhadada, Sanjay Kumar, Van Hul, Wim, Steenackers, Ellen, Dhiman, Vandana, Sridhar, Subbiah, Mortier, Geert, Bhansali, Anil   +6 more
core   +1 more source

Diagnosing Camurati-Engelmann disease-the age of whole-exome sequencing. [PDF]

Rheumatology (Oxford), 2023
Nagra D, Russell MD, Alveyn E, Birring SS, Elias D, Balachandran S, Galloway JB.   +6 more
europepmc   +1 more source