Results 41 to 50 of about 308,307 (292)

Restoring Retinal Function in a Mouse Model of Hereditary Blindness [PDF]

, 2005
Moore discusses a new study showing rescue of photoreceptor function using gene and drug therapies in a mouse model of Leber congenital ...
Moore, Tony
core   +4 more sources

The utility of flow cytometric platelet forward scatter as an alternative to mean platelet volume

Platelets, 2022
The use of mean platelet diameter (MPD) to classify inherited thrombocytopenia (IT) has been demonstrated in several studies. Alternatively, the mean platelet volume (MPV) may be used, but in macrothrombocytopenia this may not be available.
David Connor, David Rabbolini, Marie-Christine Morel-Kopp, Kate Fixter, Dea Donikian, Mayuku Kondo, Onki Chan, Susan Jarvis, Walter Chen, Timothy Brighton, Vivien Chen, Christopher Ward, Joanne Joseph   +12 more
doaj   +1 more source

Equine degenerative myeloencephalopathy: prevalence, impact, and management. [PDF]

, 2018
Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy is an inherited neurodegenerative disorder affecting many horse breeds. Clinical signs include a symmetric ataxia and an abnormal stance at rest, similar to cervical vertebral ...
Burns, Erin N, Finno, Carrie J
core  

Providing a Realist Perspective on the eyeGENE Database System [PDF]

, 2009
One of the achievements of the eyeGENE Network is a repository of DNA samples of patients with inherited eye diseases and an associated database that tracks key elements of phenotype and genotype information for each patient.
Werner Ceusters
core   +2 more sources

Cerebrospinal Fluid Liquid Biopsy Enables Targeted Therapy Without Tissue Diagnosis in Pediatric Low‐Grade Gliomas With BRAF V600E Mutation

Pediatric Blood &Cancer, EarlyView.
ABSTRACT We present two pediatric cases of pediatric low‐grade gliomas (PLGG) with BRAF V600E mutations diagnosed and monitored using cerebrospinal fluid (CSF) liquid biopsy analyzed via digital droplet PCR (ddPCR), without tissue biopsy. Both patients were treated with dabrafenib and trametinib and monitored through clinical assessments, magnetic ...
Hannah Sultan, Damien Faury, Alexander G. Weil, Harrison J. Westwick, Nada Jabado, Sébastien Perreault   +5 more
wiley   +1 more source

Bleeding risk of surgery and its prevention in patients with inherited platelet disorders

Haematologica, 2017
Excessive bleeding at surgery is a feared complication in patients with inherited platelet disorders. However, very few studies have evaluated the frequency of surgical bleeding in these hemorrhagic disorders.
Sara Orsini, Patrizia Noris, Loredana Bury, Paula G. Heller, Cristina Santoro, Rezan A. Kadir, Nora C. Butta, Emanuela Falcinelli, Ana Rosa Cid, Fabrizio Fabris, Marc Fouassier, Koji Miyazaki, Maria Luisa Lozano, Pamela Zúñiga, Claire Flaujac, Gian Marco Podda, Nuria Bermejo, Remi Favier, Yvonne Henskens, Emmanuel De Maistre, Erica De Candia, Andrew D. Mumford, Gul Nihal Ozdemir, Ibrahim Eker, Paquita Nurden, Sophie Bayart, Michele P. Lambert, James Bussel, Barbara Zieger, Alberto Tosetto, Federica Melazzini, Ana C. Glembotsky, Alessandro Pecci, Marco Cattaneo, Nicole Schlegel, Paolo Gresele   +35 more
doaj   +1 more source

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy [PDF]

, 2013
Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...
A Buj-Bello, A Lujan Feliu-Pascual, A Razzaq, A Tjondrokoesoemo, A Toussaint, AC Durieux, AH Beggs, AJ Muller, Anne Toussaint, AS Nicot, AY Mejaddam, B Qualmann, B Sinha, Belinda Cowling, BJ Peter, BS Cowling, C Fugier, C Kojima, C Spiegelhalter, CJ McMillan, CR Pierson, D Bansal, D Grabs, D Sakamuro, DJ Owen, E Lee, G Di Paolo, G Ren, G. Diane Shelton, Gregory A. Cox, H Jungbluth, Ivana Prokic, J Bohm, J Laporte, J Weis, JJ Dowling, Joachim Weis, Jocelyn Laporte, Johann Böhm, KC Chang, KG Claeys, L Klinge, Laurent Tiret, M Bitoun, M Maurer, M Pele, Marie Maurer, MH Butler, Nasim Vasli, NB Romero, NC Mao, R Wechsler-Reya, RJ Wechsler-Reya, S Pant, SE Davies, T Itoh, Thomas James Anderson, Ulrike Schara, Wolfram Kress   +58 more
core   +7 more sources

Predicting Chronicity in Children and Adolescents With Newly Diagnosed Immune Thrombocytopenia at the Timepoint of Diagnosis Using Machine Learning‐Based Approaches

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objectives To identify predictors of chronic ITP (cITP) and to develop a model based on several machine learning (ML) methods to estimate the individual risk of chronicity at the timepoint of diagnosis. Methods We analyzed a longitudinal cohort of 944 children enrolled in the Intercontinental Cooperative immune thrombocytopenia (ITP) Study ...
Severin Kasser, Alice Bizeul, Meera Chitlur, Hugo Donato, Jelena Roganovic, Julia E. Vogt, Thomas Kühne   +6 more
wiley   +1 more source

Microcephaly and macrocephaly. A study on anthropometric and clinical data from 308 subjects [PDF]

, 2019
Head circumference is the auxological parameter that most correlates with developmental anomalies in childhood. Head circumference (HC) two standard deviations (SD) below or above the mean defines microcephaly and macrocephaly, respectively.
Corsello G., Mancuso G., Martorana C., Montante C., Notarbartolo V., Piro E., Schierz I. A. M., Vanella V.   +7 more
core   +1 more source

Improved Outcomes for Older Children, Adolescents, and Young Adults With Neuroblastoma in the Post‐Immunotherapy Era: An Updated Report From the International Neuroblastoma Risk Group

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background We describe clinical and biologic characteristics of neuroblastoma in older children, adolescents, and young adults (OCAYA); describe survival outcomes in the post‐immunotherapy era; and identify if there is an age cut‐off that best discriminates outcomes.
Rebecca J. Deyell, Kavitha Srivatsa, Paola Angelini, Pei‐Chi Kao, Brady Payne, Arlene Naranjo, Sveva Castelli, Miho Kato, Miki Ohira, Ulriche Pöetschger, Yaël Mossé, Lucas Moreno, Meredith S. Irwin, Ramya Ramanujachar, Wendy B. London   +14 more
wiley   +1 more source