Results 91 to 100 of about 38,238 (296)
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
The genetics and genomics of Trypanosoma cruzi [PDF]
, 2007 Trypanosoma cruzi is a kinetoplastid parasite that causes Chagas disease. Trypanosomes are unusual organisms in many aspects of its genetics and molecular and cellular biology and considered a paradigm of the exception of the rule in the eukaryotic ...
Vazquez, Martin Pablo
core
Interspersed repetitive sequence (IRS)-PCR for typing of whole genome radiation hybrid panels
Nucleic Acids Research, 2000 The typing of a radiation hybrid (RH) panel is generally achieved using a unique primer pair for each marker. We here describe a complementing approach utilizing IRS-PCR. Advantages of this technology include the use of a single universal primer to specify any locus, the rapid typing of RH lines by hybridization, and the conservative use of hybrid DNA.
Himmelbauer, H, Schalkwyk, L, Lehrach, H
openaire +3 more sources
Asia-Pacific Journal of Chemical Engineering, EarlyView.ABSTRACT This study investigates the rheological behavior of industrial phosphoric acids (H3PO4) produced at the JORF–LASFAR phosphoric plant in Morocco, with P2O5 concentrations of 18%, 29%, 42%, and 54%. Rheological measurements were performed using a rotary cylinder rheometer over a shear rate range of 1–1000 s−1.
Hamza Belbsir +6 more
wiley +1 more source
Homologies in human and Macasa fuscata chromosomes revealed by in situ suppression hybridization with human chromosome specific DNA libraries [PDF]
, 1992 We established chromosomal homologies between all chromosomes of the human karyotype and that of an old world monkey (Macaca fuscata) by chromosomal in situ suppression (CISS) hybridization with human chromosome specific DNA libraries.
Cremer, Thomas +3 more
core +1 more source
The Anatomical Record, EarlyView.Abstract An ultrastructural morphometric analysis of the postnatal development of the lung in the gray short‐tailed opossum (Monodelphis domestica) has been conducted to evaluate the morphofunctional status of this poorly developed marsupial lung immediately following parturition.
Kirsten Ferner
wiley +1 more source
Droplet digital PCR for the quantification of Alu methylation status in hematological malignancies
Diagnostic Pathology, 2018 Background Alu repeats, belonging to the Short Interspersed Repetitive Elements (SINEs) class, contain about 25% of CpG sites in the human genome. Alu sequences lie in gene-rich regions, so their methylation is an important transcriptional regulation ...
Paola Orsini +15 more
doaj +1 more source
The Anatomical Record, EarlyView.Abstract Studies investigating paleopathologies in sauropods remain scarce despite their relative abundance in the fossil record. In this study we report new occurrence of paleopathological features, corresponding to a neoplasm found in a middle caudal vertebra (MCT.R.2120) of an advanced titanosaur from the Presidente Prudente Formation (Bauru Basin ...
Maria Luiza Peres Bertolossi +5 more
wiley +1 more source
Telomere to telomere level genome assembly of the Yarkand hare (Lepus yarkandensis)
Scientific DataThe Yarkand hare (Lepus yarkandensis) is endemic to the Tarim Basin in Xinjiang, China. It is a key species and a critical component of the Tarim Basin ecosystems.
Mengqi Xu +4 more
doaj +1 more source
Molecular Cytogenetics, 2012 Background Members of the Anostomidae family provide an interesting model system for the study of the influence of repetitive elements on genome composition, mainly because they possess numerous heterochromatic segments and a peculiar system of female ...
da Silva Edson Lourenço +2 more
doaj +1 more source