Results 71 to 80 of about 3,806 (220)

Craniofacial manifestations of Loeys Dietz syndrome : A case report and a review of the literature : Case report [PDF]

, 2015
症例報
Hosokawa, Ko, Kurosaka, Hiroshi, Morita, Chisato, Tome, Wakako, Yamashiro, Takashi   +4 more
core  

De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features [PDF]

, 2013
BACKGROUND: Triplication is a rare chromosomal anomaly. We identified a de novo triplication of 11q12.3 in a patient with developmental delay, distinctive facial features, and others.
Kayoko Saito, Keiko Shimojima, Mari Matsuo, Noriko Sangu, Seijiro Aso, Shino Shimada, Toshiyuki Yamamoto   +6 more
core   +1 more source

MyomiRs Expression in Limb Girdle Muscular Dystrophy

IUBMB Life, Volume 77, Issue 10, October 2025.
ABSTRACT This manuscript is a comprehensive review focused on the role of microRNAs (miRs)—short RNA molecules—in Limb Girdle Muscular Dystrophy (LGMD). LGMD encompasses various and heterogeneous rare genetic neuromuscular diseases, characterized by the progressive wasting and deterioration of muscle fibers, predominantly affecting the pelvic and ...
G. Breveglieri, M. T. Altieri, M. T. Rodia, R. Costa, F. Frabetti, G. Cenacchi, G. Sabbioni, M. Borgatti   +7 more
wiley   +1 more source

Predictors of rapid aortic root dilation and referral for aortic surgery in Marfan syndrome [PDF]

, 2018
Few data exist regarding predictors of rapid aortic root dilation and referral for aortic surgery in Marfan syndrome (MFS). To identify independent predictors of the rate of aortic root (AoR) dilation and referral for aortic surgery, we investigated the ...
Bradley, Timothy J, Burns, Kristin M, De Backer, Julie, Gelb, Bruce D, Gleason, Marie, Hoskoppal, Arvind, James, Jeanne, Lacro, Ronald V, Lai, Wyman W, Levine, Jami C, Liou, Aimee, Mahony, Lynn, Menon, Shaji, Olson, Aaron K, Pediatric Heart Network Investigators, Pyeritz, Reed E, Sharkey, Angela M, Stylianou, Mario, Tierney, Elif Seda Selamet, Trachtenberg, Felicia, Wechsler, Stephanie Burns, Young, Luciana   +21 more
core   +2 more sources

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology

Clinical Genetics, Volume 108, Issue 4, Page 379-392, October 2025.
The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Fiona Leduc, Clémence Vanlerberghe, Fabienne Escande, Perrine Brunelle, Florence Petit, Anne Dieux   +5 more
wiley   +1 more source

Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report

BMC Medical Genetics, 2018
Background Van Den Ende-Gupta Syndrome (VDEGS) is an extremely rare autosomal recessive syndrome with less than 20 reported families (approximately 40 patients) in the worldwide literature.
Mohammad M. Al-Qattan, Doaa F. Andejani, Nadia A. Sakati, Khushnooda Ramzan, Faiqa Imtiaz   +4 more
doaj   +1 more source

Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype

Scientific Reports, 2022
MASS phenotype is a connective tissue disorder clinically overlapping with Marfan syndrome and caused by pathogenic variants in FBN1. We report four patients from three families presenting with a MASS-like phenotype consisting of tall stature ...
Till Joscha Demal, Tasja Scholz, Helke Schüler, Jakob Olfe, Anja Fröhlich, Fabian Speth, Yskert von Kodolitsch, Thomas S. Mir, Hermann Reichenspurner, Christian Kubisch, Maja Hempel, Georg Rosenberger   +11 more
doaj   +1 more source

Онтологія вроджених вад скелету кисті [PDF]

, 2014
На підставі проведеного аналізу джерел літератури зроблена спроба узагальнити існуючі відомості про вроджені вади скелету кисті та запропоновано їх класифікацію і тлумачення згідно ...
Бірюк, Ігор Григорович, Васильчишин, Ярослав Миколайович, Гресько, А.С., Хмара, Тетяна Володимирівна   +3 more
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Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

Clinical Genetics, Volume 108, Issue 3, Page 266-278, September 2025.
Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl, Suchika Garg, Marie Monaghan, Amy Preston, Marcus Likeman, Julianne Dare, Julie Evans, Lucie S. Taylor, Ian Berry, Kathryn Urankar, Paul G. D. Spry, Cathy Williams, Robert W. Taylor, Charlotte L. Alston, James J. L. Hodge, Anirban Majumdar   +15 more
wiley   +1 more source

Neonatal mucolipidosis 2. The spontaneous evolution of early bone lesions and the effect of vitamin D treatment. Report of two cases. [PDF]

, 1989
Evolution of the early bone lesions in two children with mucolipidosis 2 was followed from birth. The progression of the bone changes did not differ from healing of rickets.
Beluffi G, Danesino C, Frediani PV, Pagani G, Pazzaglia UE, Zatti G.   +5 more
core   +1 more source