Results 61 to 70 of about 7,785,903 (293)
Deciphering mechanisms leading to preterm birth through post-GWAS integration of multi-omics data
iScienceSummary: Preterm birth (birth before 37 weeks) is a major cause of neonatal mortality and is linked to various health adversities in childhood and adult life. This study investigates the genetic factors contributing to spontaneous preterm birth (sPTB) in Esha Bhattacharjee, Ramachandran Thiruvengadam, Divyank Varshney, Jagyashila Das, Ayushi, Rishika Maji, Piyali Mondal, Supratim Ghosh, Pragya Tailor, Uma Chandra Mouli Natchu, Nitya Wadhwa, Pallavi Kshetrapal, Shinjini Bhatnagar, Arindam Maitra +13 moredoaj +1 more sourceGenetics and genomic medicine in Sri Lanka
Molecular Genetics & Genomic Medicine, 2019 The completion of the Human Genome Project in 2003 heralded in a new era marked by remarkable advances in biomedical research leading to the establishment of genomics‐based translational medicine mainly in the developed world. However, the development of Nirmala D. Sirisena, Vajira H. W. Dissanayake +1 moredoaj +1 more sourceBiphasic Clinical Course of Pediatric Cytomegalovirus‐Associated Immune Thrombocytopenia: Early Poor Treatment Response but Favorable Long‐Term Outcomes
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background
Cytomegalovirus (CMV) is a recognized trigger of immune thrombocytopenia (ITP); however, its incidence and impact on disease course in children remain controversial. Therefore, we aimed to characterize the clinical course of pediatric patients with CMV‐associated ITP.Oded Gilad, Ohad Atia, Osama Tanous, Dafna Brik Simon, Michal Dvori, Miriam Cohen, Tracie A. Goldberg, Efraim Bilavsky, Joanne Yacobovich, Orna Steinberg‐Shemer +9 morewiley +1 more sourceClinical Genetics In Developing Countries: The Case Of Brazil.
, 2015 There are many impediments to the progress of clinical and medical genetics in developing countries. Higher priorities concerning basic health care usually take precedence over genetic diseases and birth defects among medical professionals and public ...Brunoni, Décio, Acosta, Angelina Xavier, Ferraz, Victor E Faria, Marques-de-Faria, Antonia Paula +3 morecore +1 more sourceBone Mineral Density After Contemporary Treatment for Acute Lymphoblastic Leukaemia: A Matched Cross‐Sectional Study
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background
Reduced bone mineral density (BMD) has been reported in survivors of childhood and young adult acute lymphoblastic leukaemia (ALL); however, data from cohorts treated with contemporary protocols and including matched controls remain limited.Karen Schow Jensen, Mette Tiedemann Skipper, Niels Holtum Birkebæk, Kjeld Schmiegelow, Thomas Leth Frandsen, Bente Langdahl, Rikke Beck Jensen, Asger Roer Pedersen, Christian Mølgaard, Liv Andrés‐Jensen, Birgitte Klug Albertsen +10 morewiley +1 more sourceThe 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 morecore +1 more sourceParents of Youth With Cancer Report on Their Psychosocial Care: iSTEPPP Survey Finds Alignment and Gaps With Standards
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background
The Standards for Psychosocial Care for Children with Cancer and Their Families guide the provision of comprehensive psychosocial care. Parallel to research characterizing implementation of the Standards from the perspective of providers, this study examines implementation of the Standards from the perspective of parents of youth ...Emily M. Pariseau, Kimberly Buff, Michele A. Scialla, Kimberly S. Canter, Lori Wiener, Victoria Sardi‐Brown, Julia B. Tager, Kamyar Arasteh, Anne E. Kazak +8 morewiley +1 more sourceCase report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant
Frontiers in GeneticsNonketotic hyperglycinemia (NKH) is a rare, autosomal recessive metabolic disorder usually associated with mutations in genes AMT, GLDC or GCSH involved in the glycine cleavage complex.Victor Marin, Louis Lebreton, Claire Guibet, Claire Guibet, Samir Mesli, Isabelle Redonnet-Vernhet, Mathurin Dexant, Delphine Lamireau, Sandrine Roche, Margaux Gaschignard, Jean Delmas, Henri Margot, Claire Bar +12 moredoaj +1 more source
