Results 21 to 30 of about 62,388 (273)

FGF4 retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs. [PDF]

, 2017
Chondrodystrophy in dogs is defined by dysplastic, shortened long bones and premature degeneration and calcification of intervertebral discs. Independent genome-wide association analyses for skeletal dysplasia (short limbs) within a single breed ...
Aguilar, Miriam, Bannasch, Danika L, Brown, C Titus, Brown, Emily A, Dickinson, Peter J, Ettinger, Cassandra L, Korff, Courtney, Lind, Jenna, Mansour, Tamer, Pollard, Rachel, Raudsepp, Terje, Sturges, Beverly K, Varon, Samuel, Young, Amy E   +13 more
core   +2 more sources

Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings [PDF]

, 2016
Proximal focal femoral deficiency (PFFD) is a rare musculoskeletal malformation that occurs in 0.11-0.2 per 10,000 live births. This congenital anomaly involves the pelvis and proximal femur with widely variable manifestations, from mild femoral ...
Aikten, Alanay, Amstutz, Anton, Ashkenazy, Bevan-Thomas, Bronstein, Camera, Cuillier, Dillon, Doğer, Filly, Filly, Geipel, Gonçalves, Gupta, Hadi, Hamanishi, Jeanty, Keret, Lessoway, Lin, Macé, Mailath-Pokorny, Maldjian, Merz, Nemec, Oh, Otera, Parakh, Salomon, Silvas, Torre, Westberry   +33 more
core   +1 more source

Prenatal diagnosis of a novel pathogenic variation in the ACAN gene presenting with isolated shortening of fetal long bones in the second trimester of gestation: a case report

BMC Pregnancy and Childbirth, 2021
Background Heterozygous mutations of the ACAN gene are a major cause of different evolutive growth defects in the pediatric population, but were never described as a cause of fetal skeletal dysplasia.
Paolo Toscano, Lavinia Di Meglio, Fortunato Lonardo, Letizia Di Meglio, Laura Letizia Mazzarelli, Carmine Sica, Aniello Di Meglio   +6 more
doaj   +1 more source

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

Orphanet Journal of Rare Diseases, 2021
Background Skeletal dysplasia is typically diagnosed using a combination of radiographic imaging, clinical examinations, and molecular testing. Identifying a molecular diagnosis for an individual with a skeletal dysplasia can lead to improved clinical ...
Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, Matti Hero, Inka Saarinen, Liisa Pelttari, Kimberly Gall, Satu Valo, Johanna M. Huusko, Jonna Tallila, Johanna Sistonen, Juha Koskenvuo, Tero-Pekka Alastalo   +12 more
doaj   +1 more source

The natural history of acetabular dysplasia and later total hip arthroplasty in late-detected DDH: 48 patients with closed reduction followed to a mean age of 62 years

Acta Orthopaedica, 2023
Background and purpose: The long-term prognosis of acetabular dysplasia without subluxation in developmental dislocation of the hip (DDH) is uncertain.
Terje Terjesen
doaj   +1 more source

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. [PDF]

, 2015
The short rib polydactyly syndromes (SRPSs) are a heterogeneous group of autosomal recessive, perinatal lethal skeletal disorders characterized primarily by short, horizontal ribs, short limbs and polydactyly.
Daniel H. Cohn, Deborah A. Nickerson, Deborah Krakow, Ivan Duran, Jay Shendure, Michael J. Bamshad, null null, Ralph S. Lachman, Richard B. Vallee, S. Paige Taylor, Stanley F. Nelson, Sulin Wu, Tiago J. Dantas   +12 more
core   +2 more sources

Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases

Diagnostic Pathology, 2019
Background This study aims to provide genetic diagnoses for 30 cases of fetal skeletal dysplasia, and a molecular basis for the future prenatal diagnosis of fetal skeletal dysplasia.
Yan Liu, Li Wang, Yi-Ke Yang, Ying Liang, Tie-Juan Zhang, Na Liang, Li-Man Yang, Si-Jing Li, Dan Shan, Qing-Qing Wu   +9 more
doaj   +1 more source

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. [PDF]

, 2014
Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation.
Bai, Shaochun, Das, Soma, Dempsey, Melissa, Dietz, Harry C, Jones, Marilyn C, Lozada, Anthony   +5 more
core   +3 more sources

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

Smad4 regulates growth plate matrix production and chondrocyte polarity. [PDF]

, 2017
Smad4 is an intracellular effector of the TGFβ family that has been implicated in Myhre syndrome, a skeletal dysplasia characterized by short stature, brachydactyly and stiff joints.
Alliston, Tamara, Berthet, Ellora, Cantu, Andrea, Laird, Diana J, Whitaker, Amanda T   +4 more
core   +3 more sources