Results 71 to 80 of about 49,281 (297)
A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother
Balkan Journal of Medical Genetics, 2015 Emanuel syndrome (ES) is a rare chromosomal disorder that is characterized by multiple congenital anomalies and developmental disabilities. Affected children are usually identified in the newborn period as the offspring of balanced (11;22) translocation ...
İkbal Atli E +4 more
doaj +1 more source
A method for isolating and culturing placental cells from failed early equine pregnancies [PDF]
, 2016 Early pregnancy loss occurs in 6–10% of equine pregnancies making it the main cause of reproductive wastage. Despite this, reasons for the losses are known in only 16% of cases.
A.J. McGladdery +31 more
core +2 more sources
Karyotype evolution in Fusarium [PDF]
IMA Fungus, 2018 The germ tube burst method (GTBM) was employed to examine karyotypes of 33 Fusarium species representative of 11 species complexes that span the phylogenetic breadth of the genus. The karyotypes revealed that the nucleolar organizing region (NOR), which includes the ribosomal rDNA region, was telomeric in the species where it was discernible.
Waalwijk, C. +5 more
openaire +3 more sources
American Journal of Hematology, EarlyView.Key findings of therapeutic outcomes from a multi‐center cohort of VEXAS patients. ABSTRACT Hypomethylating agents (HMA) and allogeneic hematopoietic stem cell transplantation (alloHSCT) have both demonstrated remissions in VEXAS; however, comparative data is lacking.
Saubia Fathima +48 more
wiley +1 more source
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle +10 more
wiley +1 more source
Generation of New Genotypic and Phenotypic Features in Artificial and Natural Yeast Hybrids
Food Technology and Biotechnology, 2014 Evolution and genome stabilization have mostly been studied on the Saccharomyces hybrids isolated from natural and alcoholic fermentation environments. Genetic and phenotypic properties have usually been compared to the laboratory and reference strains ...
Walter P. Pfliegler +7 more
doaj
BioTechniques, 2018 Metaphase spread preparation in adult abalone has not been successful, which has restricted the applications of karyotyping-based technologies. Here, we present a non-lethal method to enable preparation of metaphase spreads from live adult abalone using ...
Jun Hyung Ryu +3 more
doaj +1 more source
Karyotyping and localization of genes on the chromosomes of the sea urchins, Strongylocentrotus drobachiensis and Strongylocentrotus purpuratus [PDF]
, 2009 The purple sea urchin, Strongylocentrotus purpuratus , is an important model for probing gene interactions during animal development and is the only non-chordate deuterostome for which a complete genome sequence is available.
Eno, Celeste Chloe
core +2 more sources
American 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