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]

open access: yesJ Psychosoc Oncol
Wu HV   +15 more
europepmc   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

open access: yesAmerican 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   +10 more
wiley   +1 more source

Mitigating Teclistamab Toxicity: Prophylactic Tocilizumab and Timing of Immunoglobulin Replacement Therapy in a Nationwide Cohort

open access: yes
American Journal of Hematology, EarlyView.
Astrid Hundebøll Torpe   +14 more
wiley   +1 more source

Long‐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

open access: yesAmerican 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   +10 more
wiley   +1 more source

Swiss Childhood Cancer Registry: Annual Report 2009/2010 [PDF]

open access: yes, 2011
Michel, Gisela   +12 more
core  

Distribution of Gastrointestinal and Dietary Risk Factors Among U.S. Adults Classified as Having Iron Deficiency Anemia Across Diagnostic Thresholds

open access: yes
American Journal of Hematology, EarlyView.
Omar Al Ta’ani   +6 more
wiley   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

open access: yesAmerican 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   +11 more
wiley   +1 more source

Hypothalamic-Pituitary Deficiency after Radiation in Childhood Cancer Survivors is Associated with Rare Variants in TNS2. [PDF]

open access: yesJ Clin Endocrinol Metab
Yoshida T   +17 more
europepmc   +1 more source

Sickle Cell Disease and Kidney Injury: Circulating Uromodulin Allows Early Tissue Specific Diagnosis and Monitoring of Treatment

open access: yes
American Journal of Hematology, EarlyView.
Ferras Alashkar   +10 more
wiley   +1 more source

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