Results 231 to 240 of about 210,137 (310)
Assessing delivery of and attitudes toward a randomized intervention to increase mammography uptake among childhood cancer survivors: A report from the Childhood Cancer Survivor Study. [PDF]
J Psychosoc OncolWu HV, Oeffinger KC, Chou JF, Henderson TO, Hudson MM, Diller LR, McDonald AJ, Ford J, Mubdi NZ, Rinehart D, Vukadinovich C, Elkin EB, Leisenring WM, Armstrong GT, Ford JS, Moskowitz CS. +15 moreeuropepmc +1 more sourcePhenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish +10 morewiley +1 more sourceMitigating Teclistamab Toxicity: Prophylactic Tocilizumab and Timing of Immunoglobulin Replacement Therapy in a Nationwide Cohort
American Journal of Hematology, EarlyView.Astrid Hundebøll Torpe, Jonathan Thorsen, Gustav Mathiasen, Katrine Fladeland Iversen, Sarah Farmer, Thomas Lund, Charlotte Toftmann Hansen, Lene Kongsgaard Nielsen, Nicolai Grønne Dahlager Jørgensen, Maja Ølholm Vase, Elena Manuela Teodorescu, Morten Salomo, Christina Wennerström, Tobias S. Slørdahl, Agoston Gyula Szabo +14 morewiley +1 more sourceLong‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata +10 morewiley +1 more sourceSwiss Childhood Cancer Registry: Annual Report 2009/2010 [PDF]
, 2011 Michel, Gisela, Rüegg, Corina Silvia, Beck-Popovic, Maja, Adam, Martin, Kuehni, Claudia, Hau, Eva, Von der Weid, Nicolas, Hengartner, Heinz, Mitter, Vera, Feller, Martin, Reck, Marianne, Niggli, Felix, Rebholz, Cornelia +12 morecore High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish +11 morewiley +1 more sourceHypothalamic-Pituitary Deficiency after Radiation in Childhood Cancer Survivors is Associated with Rare Variants in TNS2. [PDF]
J Clin Endocrinol MetabYoshida T, Wang F, Moon W, Mostoufi-Moab S, Wang H, Neupane A, Wang J, Sapkota Y, Wilson CL, Mirzaei S, Wang Z, Zhang J, Merchant TE, Armstrong GT, Ness KK, Hudson MM, Yasui Y, Delaney A. +17 moreeuropepmc +1 more sourceSickle Cell Disease and Kidney Injury: Circulating Uromodulin Allows Early Tissue Specific Diagnosis and Monitoring of Treatment
American Journal of Hematology, EarlyView.Ferras Alashkar, Robert Hable, Denise Zwanziger, Friederike Poppenborg, Raina Yamamoto, Hans Christian Reinhardt, Alexander Röth, Victor Herbst, Yara Bestmann, Marco Kai, Jürgen E. Scherberich +10 morewiley +1 more source