Results 71 to 80 of about 687,024 (308)

Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management [PDF]

, 2012
Cerebral cavernous (or capillary-venous) malformations (CCM) have a prevalence of about 0.1-0.5% in the general population. Genes mutated in CCM encode proteins that modulate junction formation between vascular endothelial cells.
Maat-Kievit, JA, Duckers, Eric, Haasdijk, Remco, Cheng, Caroline   +3 more
core   +1 more source

Health Literacy, Self‐Efficacy and Knowledge of Sickle Cell Disease Among Caregivers

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Sickle cell disease (SCD) is a hereditary blood disorder in which abnormal haemoglobin leads to severe anaemia, painful crises and organ failure. Caregivers’ health literacy (HL) – their ability to assess, understand and apply information, and interact with healthcare professionals – is crucial for managing children with SCD, yet ...
Melanie Bruinooge, Maite E. Houwing, Rowena L. Grohssteiner, Ferdows Atiq, Sonja A. M. C. Teuben, Mirjam P. Fransen, Marjon H. Cnossen   +6 more
wiley   +1 more source

An [Imperfect] Case for Dyadic Research in Pediatric Psychosocial Oncology

Pediatric Blood &Cancer, EarlyView.
Stephanie M. Nanos, Lindsay A. Jibb, Gary Rodin   +2 more
wiley   +1 more source

Leukemia and Exposure to Potential Benzene Sources in Children From the Mexico City Metropolitan Area, 2010–2021: A Geospatial Analysis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Leukemia is the most common childhood cancer in Mexico, and acute lymphoblastic leukemia (ALL) is the most frequent subtype. Exposure to high concentrations of benzene has been associated with ALL incidence, particularly in urban areas. This study evaluated the relationship between distance to benzene emission sources and the number
Orlando Rivera Zurita, Norma Candelaria López Santiago, Claudia Maria García Cuellar, Karla Maldonado Silva, Nancy Reynoso Noverón, Leticia Hernández Cadena   +5 more
wiley   +1 more source

The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors [PDF]

Purpose: The specialty of Laboratory Genetics and Genomics (LGG) was created in 2017 in an effort to reflect the increasing convergence in technologies and approaches between clinical molecular genetics and clinical cytogenetics.
Elena A. Repnikova, Vance, Gail, Yang Cao, Del Gaudio, Daniela, Luo, Minjie, Booker, Jessica, Shao, Lina, Teresa A. Smolarek, Deignan, Joshua L., Williams, Eli, Repnikova, Elena, Jessica K. Booker, Repnikova, Elena A., Vnencak-Jones, Cindy L, Li, Shibo, Rizwan C. Naeem, Leung, Marco L., Van Ziffle, Jessica, Hufnagel, Robert B, Gail H. Vance, Vimla Aggarwal, Deak, Kristen L., Pollard, Laura M, Naeem, Rizwan C, Bellissimo, Daniel B, Williams, Eli S, Deak, Kristen, Hufnagel, Robert B., Smolarek, Teresa, Hufnagel, Robert, Shaw, Brandon, Minjie Luo, Hoppman, Nicole L, Cindy L. Vnencak-Jones, Hoppman, Nicole, Daniela Del Gaudio, Cao, Yang, Liu, Pengfei, Stephen R. Moore, Moore, Stephen R., Leung, Marco L, Funke, Birgit, Colleen Jackson-Cook, Vanessa Horner, Mason-Suares, Heather, Moore, Stephen, Shaw, Brandon M, Shibo Li, Kristy R. Crooks, Naeem, Rizwan, Mao, Minjie Luo Rong, Lina Shao, Mikhail, Fady, Vance, Gail H., Vnencak-Jones, Cindy, Pollard, Laura, Heather Mason-Suares, Bale, Allen E., Bellissimo, Daniel B., Kristen L. Deak, Laura M. Pollard, Birgit Funke, Bellissimo, Daniel, Fady M. Mikhail, Elizabeth Spiteri, Daniel B. Bellissimo, Rong Mao, Spiteri, Elizabeth, Koduru, Prasad, Deignan, Joshua, Brandon M. Shaw, Shaw, Brandon M., Eli S. Williams, Repnikova, Elena A, Bale, Allen, Vnencak-Jones, Cindy L., Allen E. Bale, Vance, Gail H, Leung, Marco, Prasad Koduru, Booker, Jessica K, Jessica Van Ziffle, Crooks, Kristy R., Pengfei Liu, Crooks, Kristy R, Marco L. Leung, Jackson-Cook, Colleen, Mikhail, Fady M., Bale, Allen E, Robert B. Hufnagel, Aggarwal, Vimla, Joshua L. Deignan, Mikhail, Fady M, Deak, Kristen L, Nicole L. Hoppman, Smolarek, Teresa A, Booker, Jessica K., Moore, Stephen R, Deignan, Joshua L, Pollard, Laura M., Williams, Eli S., Crooks, Kristy, Smolarek, Teresa A., Shashirekha Shetty, Hoppman, Nicole L., Shetty, Shashirekha, Horner, Vanessa, Naeem, Rizwan C., Mao, Rong   +108 more
core   +1 more source

Genetics, Insurance and Professional Practice: Survey of the Australasian Clinical Genetics Workforce

Frontiers in Public Health, 2018
In Australia and New Zealand, by contrast with much of the developed world, insurance companies can use genetic test results to refuse cover or increase premiums for mutually-rated insurance products, including life, income protection and disability ...
Jane Tiller, Jane Tiller, Louise Keogh, Samantha Wake, Martin Delatycki, Martin Delatycki, Martin Delatycki, Margaret Otlowski, Paul Lacaze   +8 more
doaj   +1 more source

Early Impact of Childhood Opportunity on Neurocognitive Outcomes in Sickle Cell Disease

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Neurocognitive impairment is a well‐recognized complication of sickle cell disease (SCD) that begins early in childhood and persists across development. While cerebrovascular injury contributes substantially to risk, neurocognitive deficits are also observed in children without overt or silent cerebral infarctions, suggesting ...
Julia E. LaMotte, Hannah Koch, Olivia A. Coughlin, Jillian R. Bouck, Allie Carter, Seethal A. Jacob   +5 more
wiley   +1 more source

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. [PDF]

, 2001
BACKGROUND: Submicroscopic subtelomeric chromosome defects have been found in 7.4% of children with moderate to severe mental retardation and in 0.5% of children with mild retardation. Effective clinical preselection is essential because of the technical
Malcolm, S, Super, M, Knight, S.J., White, S.M., Splitt, M, Flint, J, McKeown, C., Malcolm, S., de Vries, BB, Hurst, JA, Niermeijer, MF, Trainer, A, Quarrell, O.W., White, SM, Knight, Samantha, Super, M., Quarrell, O, de Vries, B B A, Winter, R, Trainer, AH, Winter, RM, Young, ID, Young, I, Regan, R, Trainer, A.H., Knight, SJ, Vries, L.B.A. de, Young, I.D., Flint, Jonathan, Niermeijer, Martinus, Flint, J., Winter, R.M., Niermeijer, M, Homfray, T, Hurst, J, Quarrell, OW, Vries, LBA, Homfray, T., Splitt, M., White, S, Hurst, J.A., Knight, SJL, Quarrell, OWJ, Knight, S, McKeown, C, Regan, R., Niermeijer, M.F.   +46 more
core   +1 more source

Unveiling differential gene co-expression networks and its effects on levodopa-induced dyskinesia

iScience
Summary: Levodopa-induced dyskinesia (LID) refers to involuntary motor movements of chronic use of levodopa in Parkinson’s disease (PD) that negatively impact the overall well-being of people with this disease.
Tatiane Piedade de Souza, Gilderlanio Santana de Araújo, Leandro Magalhães, Giovanna C. Cavalcante, Arthur Ribeiro-dos-Santos, Camille Sena-dos-Santos, Caio Santos Silva, Gracivane Lopes Eufraseo, Alana de Freitas Escudeiro, Giordano Bruno Soares-Souza, Bruno Lopes Santos-Lobato, Ândrea Ribeiro-dos-Santos   +11 more
doaj   +1 more source

Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

Genome Medicine, 2017
Clinical genetics laboratories have recently adopted guidelines for the interpretation of sequence variants set by the American College of Medical Genetics (ACMG) and Association for Molecular Pathology (AMP).
Lora J. H. Bean, Madhuri R. Hegde
doaj   +1 more source