Results 151 to 160 of about 672,953 (296)
American Journal of Hematology, EarlyView.ABSTRACT Breakthrough hemolysis (BTH) is defined as a hemolytic exacerbation in a patient with paroxysmal nocturnal hemoglobinuria (PNH) treated with complement inhibitors (CIs). In the current era of several terminal and proximal inhibitors, there are no guidelines for defining BTH and its severity, and clinical management is not standardized.
Bruno Fattizzo +23 more
wiley +1 more source
Arterial dilation and reduced wave reflection. Benefit of dilevalol in hypertension. [PDF]
, 1989 Raymond P. Kelly +3 more
openalex +1 more source
Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier +7 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The TBX4 gene has a critical importance in the development of the lower limbs and lungs. Pathogenic variants in this gene are associated with a variable spectrum of skeletal anomalies of the lower limb and pneumological manifestations, with dominant or recessive inheritance.
Simone Carbonera +12 more
wiley +1 more source
Effects of duration and severity of arterial hypertension and cardiac hypertrophy on coronary vasodilator reserve. [PDF]
, 1982 R. D. Wangler +3 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff +8 more
wiley +1 more source
Exonic Variation and Its Clinical Impact in 7221 Old Order Amish
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell +21 more
wiley +1 more source