Human Genetics | GMR | Genetics and Molecular Research

Human Genetics Perspective

Chromosome incandescence Sample in human metaphase

Authors: Latt Sahar

Genet. Mol. Res. 23(4):

Human Genetics Case Reports

Noonan syndrome: Discovering new mutations?

Authors: Marta Guzmán Pérez*, Joaquin Gomez Garrido, Gema Giner Merino, Pablo López Sanz

We present the case of a 50-year-old white male that was brought to the emergency services due to the presence of speech disturbances and drowsiness in the past four or five days. He did not have any other symptoms apart from those but in the physical examination, some clinical characteristics were identified and could suggest the existence of a geneti.. Read More»

Genet. Mol. Res. 23(4):

Human Genetics Research Article

Detection of HER2 gene amplification in formalin-fixed and paraffin-embedded breast cancer tissues by quantitative real time polymerase chain reaction in ER and PR-positive HER2 immunohistochemistry 0 or ≥ 2+ breast cancer

Authors: Maisaa Al-Wohhaib*, Salah K Alwaheeb, Ghaneema Enad Al-shammari

Amplification of the human epidermal growth factor receptor 2 (HER2) genes and overexpression of its gene product, the HER2 protein was found in 20% of breast cancers. Genetic instability and hence aberrant HER2 amplification may be associated with breast cancer progression. HER2 status determination plays an important .. Read More»

Genet. Mol. Res. 23(4):

Human Genetics Review Article

The ramifications of Darwin's "On the origin of species": From eugenics to modern genomics

Authors: Richard Murdoch Montgomery

This article delves into the historical development and ramifications of divergent theories that have emerged since the publication of Darwin's seminal work, "On the Origin of Species" in 1856. It traces the evolution of thought from Darwin's revolutionary ideas through the controversial era of eugenics, the groundbreaking discovery of D.. Read More»