Results 231 to 240 of about 9,385,080 (408)

Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is an ultra‐rare condition belonging to the RASopathies, a group of disorders characterized by aberrant RAS/MAPK pathway signaling, which is involved in ocular development and in some eye pathologies. However, only a few studies assessing the ophthalmic features of individuals with CS are available.
Sofia Peschiaroli, Germana Viscogliosi, Annabella Salerni, Emanuele Crincoli, Roberta Mattei, Tommaso Verdolotti, Serafina Antonella Loprete, Valentina Trevisan, Giovanni Antonio Marrocco, Alessia Cherubino, Lucrezia Perri, Roberta Onesimo, Giuseppe Zampino, Chiara Leoni   +13 more
wiley   +1 more source

Allocation of rehabilitation measures provided by the Social Insurance Institution in Finland: A register linkage study [PDF]

, 2007
Hinkka, K, Kivimaki, M, Klaukka, T, Pentti, J, Suoyrjo, H, Vahtera, J   +5 more
core   +1 more source

Extended Growth Curves for the Wolf‐Hirschhorn Syndrome (4p‐)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wolf‐Hirschhorn syndrome (WHS) is a rare, highly variable contiguous gene deletion syndrome caused by deletions of the distal portion of the short arm of chromosome 4. Individuals with this disorder have prenatal onset of poor growth of all dimensions, along with neurological manifestations, developmental disability, and distinctive facial ...
Amy R. U. L. Calhoun, Amanda Lortz, T. Charles Casper, John C. Carey   +3 more
wiley   +1 more source

CD146+ T lymphocytes are increased in both the peripheral circulation and in the synovial effusions of patients with various musculoskeletal diseases and display pro‐inflammatory gene profiles [PDF]

, 2009
Pradeep K. Dagur, Gulnaz Tatlici, Mark F. Gourley, Leigh Samsel, Nalini Raghavachari, Poching Liu, Delong Liu, J. Philip McCoy   +7 more
openalex   +1 more source

CRISPR-based epigenome editing of cytokine receptors for the promotion of cell survival and tissue deposition in inflammatory environments [PDF]

, 2017
Bowles, Robby D, Brunger, Jonathan M, Farhang, Niloofar, Gersbach, Charles A, Guilak, Farshid, Lawrence, Brandon, Setton, Lori A, Stover, Joshua D, Thakore, Pratiksha I   +8 more
core   +2 more sources

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Musculoskeletal Disorders and Skin Disease Among Workers in a Japanese CD Manufacturing Plant

, 2002
Derek Smith, Yasuhisa Takeda, Takashi Mizutani, Zentaro Yamagata   +3 more
openalex   +2 more sources

Inflammatory Musculoskeletal Disease: Identification and Assessment [PDF]

, 2011
Philip J. Mease
openalex   +1 more source

A mouse coccygeal intervertebral disc degeneration model with tail‐looping constructed using a suturing method

Animal Models and Experimental Medicine, EarlyView.
A novel, simple coccygeal intervertebral disc degeneration model, using a suturing method for tail‐looping, without the need for external fixation and complex surgery. The model has high reproducibility and stability and overcomes the disadvantages of the existing animal models of disc degeneration.
Wei Xie, Zemao Huang, Ziyang Huang, Deqing Luo, Zhangxin Chen, Li Xie, Lingqi Zhu, Hui Liu, Kejian Lian, Paolo Alberton, Denitsa Docheva, Dasheng Lin   +11 more
wiley   +1 more source

Diagnostic Imaging. Musculoskeletal: Non-Traumatic Disease [PDF]

, 2011
Joel Rubenstein
openalex   +1 more source