Results 141 to 150 of about 48,210 (290)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Ultra-high resolution OCT imaging reveals retinal layer degeneration in RD10 mice with comparison to commercial standard resolution OCT

Scientific Reports
Optical coherence tomography (OCT) imaging gives researchers a window into the structure-function relationships of the retina. This makes OCT a great tool for studying photoreceptor degeneration in vivo in mouse models of inherited retinal diseases like ...
Alexander Matteson, Maya Helms, Luke Fraley, Alexander Hurt, Anna Andrews, Elizabeth White, Paul Yang, Lesley A. Everett, Siyu Chen   +8 more
doaj   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Genetics of Inherited Retinal Disease [PDF]

Journal of the Royal Society of Medicine, 2006
openaire   +2 more sources

Tree shrew model of early diabetic retinopathy reveals microvascular dysfunction and identifies phosphoserine aminotransferase 1 as a novel therapeutic target

Animal Models and Experimental Medicine, EarlyView.
We developed an animal model of early diabetic retinopathy (DR) in the tree shrew by feeding a high‐fat and high‐sugar diet in combination with STZ. Physiological and biochemical index detection, hematoxylin and eosin staining, and transmission electron microscopy were performed to examine DR.
Min Qiu, Shurui Huo, Wenguang Wang, Na Li, Qingwei Zeng, Xiaomei Sun, Jiejie Dai, Pinfen Tong, Yuanyuan Han, Ling Zhao, Caixia Lu   +10 more
wiley   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Pre‐Diagnostic Plasma Carotenoids, Tocopherols and Retinol Levels, and Risk of Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Our goal was to examine whether pre‐diagnostic plasma carotenoids and tocopherols are associated with amyotrophic lateral sclerosis (ALS). Methods A nested case–control study within 4 United States cohorts, where 154 participants with pre‐diagnostic blood‐draw, were diagnosed during follow‐up with amyotrophic lateral sclerosis (ALS). Controls
Éilis J. O'Reilly, Kjetil Bjornevik, Jeremy D. Furtado, Alpa V. Patel, Ying Wang, Laurence N. Kolonel, Loïc Le Marchand, Alberto Ascherio   +7 more
wiley   +1 more source

Retinal de novo lipogenesis coordinates neurotrophic signaling to maintain vision [PDF]

, 2018
Adak, Sangeeta, Chen, Shiming, Doggett, Teresa, Enright, Jennifer, Hsu, Fong-Fu, Ling, Guoyu, Rajagopal, Rithwick, Semenkovich, Clay F, Shah, Vaishali, Wei, Xiaochao, Yoshino, Jun, Zhang, Sheng   +11 more
core   +2 more sources

Treatment of a Large Cohort of Childhood Chronic Noninfectious Uveitis in a Multicentric Large Study: Adalimumab Versus Methotrexate as First‐Line Therapy

Arthritis &Rheumatology, EarlyView.
Objective Treatment of childhood chronic idiopathic uveitis (cCIU) is predominantly based on studies in juvenile idiopathic arthritis–associated uveitis and expert opinion. Our aim was to report the treatment outcomes of our cohort of cCIU. Methods Retrospective multicenter study involving the rheumatology and ophthalmology units at Florence, Italy ...
Ilaria Maccora, Catherine Guly, Cinzia de Libero, Giulia Carreras, Athimalaipet V. Ramanan, Gabriele Simonini   +5 more
wiley   +1 more source