Results 41 to 50 of about 1,216,010 (296)

Prevalence of disorders recorded in Cavalier King Charles Spaniels attending primary-care veterinary practices in England [PDF]

, 2015
Concerns have been raised over breed-related health issues in purebred dogs, but reliable prevalence estimates for disorders within specific breeds are sparse.
Brodbelt, D C, Church, D B, McGreevy, P D, O'Neill, D G, Summers, J F, Thomson, P C   +5 more
core   +3 more sources

Real‐World Pediatric Blinatumomab Administration: Access to Outpatient Care Delivery and Impact of a Hospital‐Dispensed Model

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Blinatumomab has been shown to be highly effective for patients with pediatric B‐ALL and has recently become standard of care therapy. Due to its past use in the clinical trial setting, there is limited information available about real‐world administration.
Katelyn Oranges, Kelly A. Duffy, Sara McDonough, Evelyn Kurpiewski, R. Jennifer Randall, Allison Barz Leahy, Haley M. Newman, Joyce P. Lee, Stephen P. Hunger, Anne F. Reilly, David T. Teachey, Susan R. Rheingold, Daniel J. Zheng   +12 more
wiley   +1 more source

Case Report: Rothmund-Thomson syndrome type 2 in Ecuador: clinical and molecular insights into a recurrent RECQL4 variant

Frontiers in Pediatrics
This case report presents two Ecuadorian patients with Rothmund-Thomson syndrome type 2 (RTS2), an autosomal recessive disorder, who share a RECQL4 variant previously identified in another Ecuadorian patient, supporting the recurrent presence of this ...
Martina Isabella Armas Samaniego, Mateo Briones Vasquez, Mel Mariño Zambrano, Vanessa I. Romero, Vanessa I. Romero, Karen Melo, Juan Carlos Pozo-Palacios   +6 more
doaj   +1 more source

Clinical Insights Into Hypercalcemia of Malignancy in Childhood

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Hypercalcemia of malignancy (HCM) is a rare but life‐threatening metabolic emergency in children that occurs in less than 1% of pediatric cancer cases, with a reported incidence ranging from 0.4% to 1.0% across different studies. While it is observed in 10%–20% of adult malignancies, pediatric HCM remains relatively uncommon.
Hüseyin Anıl Korkmaz
wiley   +1 more source

Clinical molecular genetics in the UK c.1975-c.2000 [PDF]

, 2014
seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
core  

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]

, 2010
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F, Crompton, Danielle, De Gressi, Susanna, Foster, Kathleen, Hardy, Carol, Hughes, Imelda, Kurian, Manju A, Lunt, Peter, MacPherson, Lesley, Maher, Eamonn R, McDonald, Fiona, Morgan, Neil V, Pike, Michael G, Rehal, Pauline K, Smith, Matthew   +14 more
core   +1 more source

Survival Outcomes and Complications Among Canadian Children With Retinoblastoma: A Population‐Based Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Retinoblastoma (RB) is the most common pediatric ocular cancer, yet population‐based data on survival and risk factors remain limited. This study aimed to describe survival in a large national RB cohort and identify predictors of death and complications.
Samuel Sassine, Ofélie Trudeau‐Ferrin, Caroline Laverdière, Patrick Hamel, Rosanne Superstein, Bénédicte Koukoui, Carole Provost, Paul C. Nathan, Vijay Ramaswamy, Furqan Shaikh, Brenda Gallie, Ashwin Mallipatna, Stephanie Kletke, Helen Dimaras, Hallie Coltin   +14 more
wiley   +1 more source

Genetic counselling and family practice

South African Family Practice, 1980
No abstract available.
Johan Op't Hof
doaj   +1 more source

Alzheimer\u27s Disease and Down\u27s Syndrome: An Overview [PDF]

, 2011
The association between Alzheimer\u27s Disease and Down\u27s Syndrome is well recognized through clinical observations and genetic studies. However, the exact nature and the implications of this link is far from clear as yet.
Desai, M.B.B.S., Dr.Devanshu
core   +1 more source

Personalized Selumetinib Dosing in Pediatric Neurofibromatosis Type 1: Insights From a Pilot Therapeutic Drug Monitoring Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate selumetinib exposure using therapeutic drug monitoring (TDM) in pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN), assess interpatient pharmacokinetic variability, and explore the relationship between drug exposure, clinical response, and adverse effects.
Janka Kovács, Zoltán Köllő, Balázs Gellért Karvaly, Mahmoud Obeidat, Rita Nagy, Péter Hegyi, Brigitta Teutsch, Eszter Tuboly, Miklós Garami   +8 more
wiley   +1 more source