Results 31 to 40 of about 1,609,120 (298)

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss

Genome Medicine, 2023
Background The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) guidelines recommend using variant enrichment among cases as "strong" evidence for pathogenicity per the PS4 criterion.
Sihan Liu, Mingjun Zhong, Yu Huang, Qian Zhang, Ting Chen, Xiaofei Xu, Wan Peng, Xiaolu Wang, Xiaoshu Feng, Lu Kang, Yu Lu, Jing Cheng, Fengxiao Bu, Huijun Yuan   +13 more
doaj   +1 more source

Rare ophthalmology diseases

romanian journal of ophthalmology, 2019
Rare ocular pathology has an important impact on the quality of life of patients because often the damage is bilateral and, although asymmetric, causes a significant decrease in visual acuity. Because it may be asymptomatic until a relatively late stage, diagnosis is frequently delayed. A general understanding of the disease pathophysiology, diagnosis,
Elena Angelica, Sburlan, Liliana-Mary, Voinea, Cristina, Alexandrescu, Sanziana, Istrate, Raluca, Iancu, Ruxandra, Pirvulescu, Aida, Geamanu, Mihai, Ghita, Emil, Ungureanu, Ciuluvica, Radu   +9 more
openaire   +2 more sources

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders [PDF]

, 2016
INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases ...
Cortès-Saladelafont, Elisenda, Fernández-Ramos, Joaquín A, Friedman, Jennifer, Garcia-Cazorla, Àngels, Honzik, Tomas, Horvath, Gabriella, International Working Group on Neurotransmitter related disorders (iNTD), Jeltsch, Kathrin, Jung-Klawitter, Sabine, Kurian, Manju A, Kuseyri, Oya, Lopez-Laso, Eduardo, Mastrangelo, Mario, Opladen, Thomas, Pearson, Toni, Pons, Roser, Scholl-Bürgi, Sabine, Wassenberg, Tessa   +17 more
core   +1 more source

Sex-split analysis of pathology and motor-behavioral outcomes in a mouse model of CLN8-Batten disease reveals an increased disease burden and trajectory in female Cln8 mnd mice

Orphanet Journal of Rare Diseases, 2022
Background CLN8-Batten disease (CLN8 disease) is a rare neurodegenerative disorder characterized phenotypically by progressive deterioration of motor and cognitive abilities, visual symptoms, epileptic seizures, and premature death.
Andrew D. Holmes, Katherine A. White, Melissa A. Pratt, Tyler B. Johnson, Shibi Likhite, Kathrin Meyer, Jill M. Weimer   +6 more
doaj   +1 more source

Rare Diseases

Journal of Prescribing Practice
Abstract The definition of rare disease is covered. The challenges in the clinical development programme are highlighted, including in the design, conduct, analysis, and interpretation of clinical studies. Regulatory flexibilities and support are highlighted.
Phil Ambery, Adrian Kilcoyne, Daniel O’Connor   +2 more
  +7 more sources

Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]

, 2014
Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs
Gkoutos, Georgios V, Hoehndorf, Robert, Schofield, Paul N   +2 more
core   +2 more sources

Fibrodysplasia ossificans progressiva in Brazil: challenges and strategies to create assistance and educational networks

Orphanet Journal of Rare Diseases, 2022
Fibrodysplasia ossificans progressiva (FOP) is an ultrarare condition and one of the most impactful disorders associated with progressive heterotopic ossification events.
Alessandro Rozim Zorzi, Patricia R. Delai, Henrique L. C. Rosa, Wander E. Brito, Victor A. M. Montalli, Juliana C. Napimoga, Marcelo H. Napimoga, Francisco H. Nociti   +7 more
doaj   +1 more source

Population Genetics of Rare Variants and Complex Diseases [PDF]

, 2012
Identifying drivers of complex traits from the noisy signals of genetic variation obtained from high throughput genome sequencing technologies is a central challenge faced by human geneticists today.
Hernandez, Ryan D., Maher, M. Cyrus, Torgerson, Dara G., Uricchio, Lawrence H.   +3 more
core   +2 more sources

Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing

Journal of Biochemical and Clinical Genetics, 2019
Background: Primary Hyperoxaluria Type 1 (PH1) is an inborn error of metabolism caused by mutations in the AGXT gene, which encodes for the hepatocyte-specific enzyme alanine: glyoxylate aminotransferase (AGT).
Kimberly A Coughlan, Rajanikanth J Maganti, Andrea Frassetto, Christine M DeAntonis, meredith Wolfrom, Anne-Renee Graham, Shawn M Hillier, Steven Fortucci, Hoor Al Jandal, Sue-Jean Hong, Paloma H Giangrande, Paolo GV Martini   +11 more
doaj   +1 more source

Biomarkers in Rare Diseases

Public Health Genomics, 2013
<b><i>Background:</i></b> Nowadays 7,000 rare diseases (RDs) have been identified with a prevalence less than 5/10,000. Despite of the enormous effort the European Union (EU) has already invested in this field, still 4,000 RDs remain orphan of genetic diagnosis and causative gene identification.
FERLINI, Alessandra, SCOTTON, Chiara, G. Novelli   +2 more
openaire   +3 more sources