Results 101 to 110 of about 58,780 (225)

A variant of uncertain significance in HMGA2 gene, in a child with Silver-Russell syndrome like phenotype: A case report

Journal of Clinical Images and Medical Case Reports, 2023
Silver-Russell Syndrome 5 (SRS5) is characterized by asymmetric Intrauterine Growth Restriction (IUGR), poor postnatal ...
Maria Xatzipsalti
semanticscholar   +1 more source

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

Journal of Intellectual Disability Research, Volume 70, Issue 6, Page 608-652, June 2026.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source

Seminoma in a Man with Russell-Silver Syndrome Presenting with Testicular Torsion

Case Reports in Urology, 2016
Russell-Silver syndrome (RSS) is a type of primordial dwarfism. Only one case of testicular cancer in RSS has been reported, the pathology of which was nonseminoma.
Satoshi Funada, Ryosuke Ikeuchi, Toru Yoshida, Takehiko Segawa   +3 more
doaj   +1 more source

Recent Advances in Imprinting Disorders. [PDF]

, 2016
Imprinting disorders (ImpDis) are a group of currently 12 congenital diseases with common underlying (epi)genetic etiologies and overlapping clinical features affecting growth, development and metabolism.
Begemann, M, Eggermann, T, Grønskov, K, Linglart, A, Mackay, DJG, Maher, ER, Monk, D, Netchine, I, Riccio, A, Soellner, L, Temple, IK, Tümer, Z   +11 more
core   +1 more source

Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome

Genes, 2021
Molecular defects altering the expression of the imprinted genes of the 11p15.5 cluster are responsible for the etiology of two congenital disorders characterized by opposite growth disturbances, Silver–Russell syndrome (SRS), associated with growth ...
Laura Pignata, A. Sparago, O. Palumbo, E. Andreucci, E. Lapi, R. Tenconi, M. Carella, A. Riccio, F. Cerrato   +8 more
semanticscholar   +1 more source

Canine chronic idiopathic rhinitis: management and outcome – a single‐centre retrospective observational study

Journal of Small Animal Practice, Volume 67, Issue 5, Page 460-470, May 2026.
Objectives Canine chronic idiopathic rhinitis is a common cause of nasal disease in dogs but data reporting outcomes following treatment is lacking. The aim was to describe pre‐ and post‐referral management and outcomes of dogs diagnosed with canine chronic idiopathic rhinitis at a single referral centre.
P. M. N. Henry, R. Rizzo, Y. Tan, A. M. Boag, J. Del‐Pozo, G. A. Woods   +5 more
wiley   +1 more source

Risk factors underlying brain structure change rate in cognitive decline: Results from genomewide and phenomewide investigations

Alzheimer's &Dementia, Volume 22, Issue 4, April 2026.
Abstract INTRODUCTION The genetic and clinical factors influencing the rate of brain structure change in cognitive decline remain poorly understood. This study aimed to identify genetic variants and risk factors contributing to these changes and explore potential causal relationships.
Yin Jin, Apostolia Topaloudi, Petros Drineas, Peristera Paschou   +3 more
wiley   +1 more source

Toward Harmonizing Quantification of Dopamine Neuron Imaging Biomarkers in Parkinson's Disease: The Centamine Scale

Annals of Neurology, Volume 99, Issue 4, Page 949-963, April 2026.
Objective Dopaminergic imaging is a key biomarker for both the investigation of the biology of Parkinson's disease and related synucleinopathies and the evaluation of potential therapies in clinical trials. This work presents a harmonized approach for quantifying dopaminergic molecular imaging tracers, such as [123I]ioflupane (dopamine transporter scan
Zhen Fan, Graham Searle, Gaia Rizzo, Justin Albani, Patrick Cella, Robert Comley, Gregory Klein, Luca Passamonti, Cristian Salinas, Adam J. Schwarz, Leonardo Iaccarino, Gilles Tamagnan, Jamie Eberling, Ken Marek, John Seibyl, Roger N. Gunn, The Parkinson's Progression Markers Initiative, Kenneth Marek, Caroline Tanner, Tanya Simuni, Andrew Siderowf, Douglas Galasko, Lana Chahine, Christopher Coffey, Kalpana Merchant, Kathleen Poston, Roseanne Dobkin, Tatiana Foroud, Brit Mollenhauer, Dan Weintraub, Ethan Brown, Karl Kieburtz, Mark Frasier, Todd Sherer, Sohini Chowdhury, Roy Alcalay, Aleksandar Videnovic, Duygu Tosun‐Turgut, Werner Poewe, Susan Bressman, Jan Hammer, Raymond James, Ekemini Riley, John Seibyl, Leslie Shaw, David Standaert, Sneha Mantri, Nabila Dahodwala, Michael Schwarzschild, Connie Marras, Hubert Fernandez, Ira Shoulson, Helen Rowbotham, Paola Casalin, Claudia Trenkwalder, Todd Sherer, Sohini Chowdhury, Mark Frasier, Jamie Eberling, Katie Kopil, Alyssa O'Grady, Maggie McGuire Kuhl, Leslie Kirsch, Tawny Willson, Charles Adler, Roy Alcalay, Amy Amara, Paolo Barone, Bastiaan Bloem, Susan Bressman, Kathrin Brockmann, Norbert Brüggemann, Lana Chahine, Kelvin Chou, Nabila Dahodwala, Alberto Espay, Stewart Factor, Hubert Fernandez, Michelle Fullard, Douglas Galasko, Robert Hauser, Penelope Hogarth, Shu‐Ching Hu, Michele Hu, Stuart Isaacson, Christine Klein, Rejko Krueger, Mark Lew, Zoltan Mari, Connie Marras, Maria Jose Martí, Nikolaus McFarland, Tiago Mestre, Brit Mollenhauer, Emile Moukheiber, Alastair Noyce, Njideka Okubadejo, Sarah O'Shea, Rajesh Pahwa, Nicola Pavese, Werner Poewe, Ron Postuma, Giulietta Riboldi, Lauren Ruffrage, Javier Ruiz Martinez, David Russell, Marie H Saint‐Hilaire, Neil Santos, Wesley Schlett47, Ruth Schneider, Holly Shill, David Shprecher, Tanya Simuni, David Standaert, Leonidas Stefanis, Yen Tai, Caroline Tanner, Arjun Tarakad, Eduardo Tolosa PhD34, Aleksandar Videnovic, Susan Ainscough, Courtney Blair, Erica Botting, Isabella Chung, Kelly Clark, Ioana Croitoru, Kelly DeLano, Iris Egner, Fahrial Esha, May Eshel, Frank Ferrari, Victoria Kate Foster, Alicia Garrido, Madita Grümmer, Bethzaida Herrera, Ella Hilt, Chloe Huntzinger, Raymond James, Farah Kausar, Christos Koros, Yara Krasowski60, Dustin Le, Ying Liu, Taina M. Marques, Helen Mejia Santana, Sherri Mosovsky, Jennifer Mule, Philip Ng, Lauren O'Brien, Abiola Ogunleye, Oluwadamilola Ojo, Obi Onyinanya, Lisbeth Pennente, Romina Perrotti, Michael Pileggi, Ashwini Ramachandran, Deborah Raymond, Jamil Razzaque, Shawna Reddie, Kori Ribb, Kyle Rizer, Janelle Rodriguez, Stephanie Roman, Clarissa Sanchez, Cristina Simonet, Anisha Singh, Elisabeth Sittig, Barbara Sommerfeld, Angela Stovall, Bobbie Stubbeman, Alejandra Valenzuela, Catherine Wandell, Diana Willeke, Karen Williams, Dilinuer Wubuli   +174 more
wiley   +1 more source

ADAM10‐Mediated Proteolytic Remodelling of Signalling and Adhesion Proteins on Brain Cell‐Derived Small Extracellular Vesicles

Journal of Extracellular Biology, Volume 5, Issue 4, April 2026.
ABSTRACT Proteases are common components of extracellular vesicles (EVs), yet the extent and functional relevance of ongoing proteolytic activity on EV surfaces remain largely unexplored. Such activity could significantly influence EV function and identity, with likely implications for EV‐mediated signalling, recipient cell targeting, cargo delivery ...
Christopher C. Reimann, Hermann C. Altmeppen, Tomas Koudelka, Michaela Schweizer, Andreas Tholey, Behnam Mohammadi, Julia Bär, Lesley Cheng, Markus Glatzel, Marina Mikhaylova, Andrew F. Hill   +10 more
wiley   +1 more source

Persistence of pain induced by startle and forehead cooling after sympathetic blockade in patients with complex regional pain syndrome [PDF]

, 2004
Background: Stimuli arousing sympathetic activity can increase ratings of clinical pain in patients with complex regional pain syndrome (CRPS). Objective: To determine whether the increase in pain is mediated by peripheral sympathetic activity.
Drummond, P.D., Finch, P.M.
core   +1 more source