Loss of minichromosome maintenance 4 leads to early renal dysplasia and cystogenesis outcomes. [PDF]
Genes DisHuang J +4 more
europepmc +1 more source
Impact of Heat Block Drying on Morphologic Preservation and Staining of Peripheral Blood Smears
International Journal of Laboratory Hematology, Volume 48, Issue 6, Page 1341-1347, December 2026.ABSTRACT Introduction Morphologic evaluation of the peripheral blood smear is critical for diagnosis and ruling out certain hematologic disorders. While air‐drying is standard, some laboratories may use heat blocks to expedite drying. Excessive heat may induce morphologic artifacts, but there is a lack of systematic literature on this practice ...
Ryan C. Shean +4 more
wiley +1 more source
Adult Diagnosis of Solitary Kidney and Renal Dysplasia in a Male Born Prematurely as a Twin: A Case Report. [PDF]
Int J Nephrol Renovasc DisMugisha AI.
europepmc +1 more source
PANoptosis in the pathogenesis of myelodysplastic syndromes
Molecular Oncology, Volume 20, Issue 11, Page 2584-2610, November 2026.PANoptosis, a combination of three types of programmed cell death, is mediated by a large protein complex called a PANoptosome. In healthy bone marrow hematopoietic cells, PANoptosis is restricted by inhibitory signaling. In MDS, bone marrow cells become sensitive to the PANoptotic stimuli due to the aberrant inactivation of inhibitory signaling or ...
Rohit Thalla +4 more
wiley +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2519-2524, November 2026.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Delayed Diagnosis of HDR (Hypoparathyroidism, Deafness, and Renal Dysplasia) Syndrome Presenting With Life-Threatening Hypercalcemic Crisis: A Case Report. [PDF]
CureusÇordan İ.
europepmc +1 more source
Fibromuscular dysplasia of renal arteries [PDF]
Wiener klinische Wochenschrift, 2009 Daniel, Schoepf, Philipp, Eller
openaire +2 more sources
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2409-2419, November 2026.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome. [PDF]
Am J Med Genet AMeiss LN +8 more
europepmc +1 more source
Clinical Case Reports, Volume 14, Issue 11, November 2026.ABSTRACT Klippel‐Trenaunay syndrome (KTS) is a rare congenital vascular overgrowth disorder characterized by capillary and venous or lymphatic malformations with limb hypertrophy. Deep intramuscular involvement in children is uncommon and may resemble other vascular‐overgrowth syndromes.
Syeda Simrah Shah +9 more
wiley +1 more source