Results 221 to 230 of about 5,996,346 (272)

Infantile Epileptic Spasms Syndrome Complicating Mosaic Down‐Turner Syndrome: A Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Severe baseline developmental delays in complex genetic syndromes like Down‐Turner mosaicism can completely mask the psychomotor regression of Infantile Epileptic Spasms Syndrome (IESS). Clinicians must maintain a high index of suspicion and prioritize early video‐EEG screening for any abnormal paroxysmal movements.
Mohammad Shahrori, Khadeeja Nofal, Hasan H. Alkhawaja, Waed Mohsen, Ainaa A. Alzamari   +4 more
wiley   +1 more source

Unanswered questions when human karyotyping shows a supernumerary chromosome. [PDF]

Heredity (Edinb)
Liehr T, Fuchs S.
europepmc   +1 more source

Impact of increased population size and three reference genomes on the development of linkage maps in alfalfa

Crop Science, Volume 66, Issue 5, September/October 2026.
Abstract Alfalfa (Medicago sativa L.) is an important perennial forage crop and a highly heterozygous autotetraploid species (2n = 4x = 32), making high‐density linkage mapping challenging. This study evaluated the effects of reference genome choice and population size on the development of genetic linkage maps using genotyping‐by‐sequencing‐derived ...
Harpreet Kaur, Melinda Dornbusch, Laura M. Shannon, Deborah A. Samac   +3 more
wiley   +1 more source

Tryptophan metabolism in colorectal cancer: From mechanistic insights to novel therapeutic strategies

Clinical and Translational Medicine, Volume 16, Issue 9, September 2026.
Tryptophan metabolism modulates CRC via three microbiota‐regulated pathways with distinct dual‐mode effects. The kynurenine pathway provides biomarkers, serotonin pathway supports SSRI‐combined immunotherapy, indole pathway yields immunostimulatory metabolites, collectively offering translational prospects.
Ran Wang, Wenke Shen, Ping Yang, Dongxue Yang, Yuepeng Cao, Yuping Zhou   +5 more
wiley   +1 more source

Emanuel Syndrome: A Case Report With Isolated Nuchal Translucency Thickening. [PDF]

Case Rep Genet
Maya B, Marharyta N, Anastasiia D, Iryna K, Irina I, Svitlana A.   +5 more
europepmc   +1 more source

Benign mosaic chromosomal structural variants across generations: evidence for a developmental correction mechanism from clinical and computational models. [PDF]

Front Genet
Ruan J, Song Q, Hu Y, Liu X, Li S, Zhu J, Yang L.   +6 more
europepmc   +1 more source

The genome sequence of the Neglected Rustic moth, <i>Xestia castanea</i> (Esper, 1798) (Lepidoptera: Noctuidae). [PDF]

Wellcome Open Res
Broad GR, Natural History Museum Genome Acquisition Lab, Darwin Tree of Life Barcoding Collective, Wellcome Sanger Institute Tree of Life Management, Samples and Laboratory team, Wellcome Sanger Institute Scientific Operations: Sequencing Operations, Wellcome Sanger Institute Tree of Life Core Informatics team, Tree of Life Core Informatics collective, Darwin Tree of Life Consortium.   +8 more
europepmc   +1 more source

<i>CBFB::MYH11</i> Fusion Located on a Supernumerary Ring Chromosome 16 in Pediatric Acute Myeloid Leukemia: Diagnostic Challenges and Prognostic Implications. [PDF]

Genes (Basel)
Xia C, Acquazzino M, Althof PA, Nelson M, Harris RA, Spaulding JR, Khoury JD, Tang Z.   +7 more
europepmc   +1 more source

Paternal UPD (15) With Disease-Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case Report. [PDF]

Case Rep Genet
Lee Curtis D, Bekheirnia N, Potocki L, Matyakhina L, Bekheirnia MR.   +4 more
europepmc   +1 more source

Molecular evolution of mosaic chromosome 18 copy-number alterations from gametes to hepatoblastoma. [PDF]

JHEP Rep
Cendres E, Cornet M, Gautier Z, Pire A, Urvoy N, Morcrette G, Simaga F, Guimier A, Chardot C, Capito C, Schleiermacher G, Masliah-Planchon J, Pierron G, Taddei I, Stoppa-Lyonnet D, Zucman-Rossi J, Romana S, Aerts I, Hirsch TZ.   +18 more
europepmc   +1 more source