Results 101 to 110 of about 142,560 (388)
Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison +3 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
Experimental and Molecular Medicine, 2013 The cytogenetic analysis of mesenchymal stromal cells (MSCs) is essential for verifying the safety and stability of MSCs. An in situ technique, which uses cells grown on coverslips for karyotyping and minimizes cell manipulation, is the standard protocol
S. M. Hwang +10 more
semanticscholar +1 more source
BIO-PROTOCOL, 2014 A chromosome is the structure that organizes DNA and protein in cells. It is a single piece of coiled DNA containing coding and non-coding sequences. Human cells have 23 pairs of chromosomes including 22 pairs of autosomes and one pair of sex chromosome, giving a total of 46 per cell.
Chun-Hung Chou, Muh-Hwa Yang
openaire +2 more sources
Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim +2 more
wiley +1 more source
Bihdād, 2020 Background and Objectives: Several studies have been carried out on the use of cell lines in researches, production and processing of drugs and biological products, and on the identification of toxicity and efficacy.The present study was conducted to ...
Fereshteh Ziaiifar +2 more
doaj
Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes +4 more
wiley +1 more source
Medical Journal of Dr. D.Y. Patil VidyapeethA rare pigmentation disorder called linear and whorled nevoid hypermelanosis (LWNH) is characterized by macular hyperpigmentation that follows the Blaschko lines.
Banyameen Iqbal +3 more
doaj +1 more source
Primary amenorrhea in North Kerala: A cytogenetic study
National Journal of Clinical Anatomy, 2020 Background and Objectives: Primary amenorrhea (PA) is a major cause of female infertility. PA with the absence of secondary sexual characters is usually due to endocrine or chromosome abnormalities.
K S Lekha, N Seena, Lola Das, V Bhagyam
doaj +1 more source
Genome Sequence of the Chestnut Blight Fungus Cryphonectria parasitica EP155: A Fundamental Resource for an Archetypical Invasive Plant Pathogen. [PDF]
, 2020 Cryphonectria parasitica is the causal agent of chestnut blight, a fungal disease that almost entirely eliminated mature American chestnut from North America over a 50-year period. Here, we formally report the genome of C. parasitica EP155 using a Sanger
Aerts, Andrea +14 more
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