American Journal of Hematology, EarlyView.ABSTRACT The COMMANDS trial established luspatercept as a first‐line treatment for anemia in transfusion‐dependent lower‐risk (LR) myelodysplastic syndromes (MDS). Here we report red blood cell (RBC) transfusion response analysis based on somatic mutations profile and disease risk for patients treated with luspatercept or epoetin alfa in the COMMANDS ...
Rami S. Komrokji +9 more
wiley +1 more source
Growth Standards for Children With Smith–Magenis Syndrome (SMS)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene.
Julie Hoover‐Fong +10 more
wiley +1 more source
INQUIRY OVER BIOMETRIC PASSPORTS [PDF]
The biometric passport is the new type of passports, which from October 2006 are required for entry to the US by the VWP (see also later on the section Types of biometric passports).
Ionela Camelia Cioacătă
core
A Population‐Based Assessment of Cancer Risk in Children With VACTERL
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark +15 more
wiley +1 more source
The Efficacy of Fetal Sonographic Biometry in Down Syndrome Screening [PDF]
, 1990 openalex +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Automated cervix biometry, volumetry and normative models for 3D motion-corrected T2-weighted 0.55-3T fetal MRI during 2nd and 3rd trimesters. [PDF]
Sci RepUus A +8 more
europepmc +1 more source
VP34.30: Customised assessment score for learning and practice of ultrasound fetal biometry: prospective validation of OSAUS method [PDF]
, 2020 G. Ambroise‐Grandjean +5 more
openalex +1 more source
Effect and Threshold of Endoscopic Findings for CRS Control Status and Long‐Term Outcome Prediction
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background EPOS 2020 defined chronic rhinosinusitis (CRS) disease control using patient symptoms and medication usage but endoscopic findings were considered optional. The effect of adding endoscopic features, an appropriate threshold, and their association with present or future symptom control have not been studied.
Steven Chun‐Kang Liao +14 more
wiley +1 more source
Simulated ocular biometry effects on add-power demand in multifocal intraocular lenses. [PDF]
J Cataract Refract SurgSon HS +4 more
europepmc +1 more source