ISCN 2013

ISCN 2013
Author: International Standing Committee on Human Cytogenetic Nomenclature
Publisher: Karger Medical and Scientific Publishers
Total Pages: 148
Release: 2013
Genre: Medical
ISBN: 3318022535

This publication extends the now classic system of human cytogenetic nomenclature prepared by an expert committee and published in collaboration with Cytogenetic and Genome Research' since 1963. Revised and finalized by the ISCN Committee and its advisors at a meeting in Seattle, Wash., in April 2012, the ISCN 2013 updates, revises and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication that supersedes all previous ISCN recommendations. There are several new features in ISCN 2013: an update of the microarray nomenclature, many more illustrative examples of uses of nomenclature in all sections some definitions including chromothripsis and duplication a new chapter for nomenclature that can be used for any region-specific assay. The ISCN 2013 is an indispensable reference volume for human cytogeneticists, technicians and students for the interpretation and communication of human cytogenetic nomenclature.

The Molecular Biology of Down Syndrome

The Molecular Biology of Down Syndrome
Author: G. Lubec
Publisher: Springer Science & Business Media
Total Pages: 380
Release: 1999-12-02
Genre: Medical
ISBN: 9783211833773

This book contains updated reviews and original research work on Down Syndrome focussing on brandnew results in neurobiology, in particular results on gene hunting (subtractive hybridization, differential display) and neurochemistry. The book provides new data such as a subtractive library of Down Syndrome brain showing cDNAs that are overexpressed or downregulated and can be regarded as a source for further research on the preliminary transcriptional data given. A 2D-electrophoretic map of human brain proteins including Down Syndrome brain protein expression established by in-gel-digestion of spots with subsequent MALDI-identification provides the scientific basis for protein work to the neuroscientist. Altogether, the book provides a series of new candidate genes possibly involved in Down Syndrome neurobiology, tools for neuroscience studies on Down Syndrome brain thus serving as a manual and updated views and aspects on Down Syndrome pathobiology.

Childhood Acute Lymphoblastic Leukemia

Childhood Acute Lymphoblastic Leukemia
Author: Ajay Vora
Publisher: Springer
Total Pages: 345
Release: 2017-04-21
Genre: Medical
ISBN: 3319397087

This book provides a comprehensive and up-to-date review of all aspects of childhood Acute Lymphoblastic Leukemia, from basic biology to supportive care. It offers new insights into the genetic pre-disposition to the condition and discusses how response to early therapy and its basic biology are utilized to develop new prognostic stratification systems and target therapy. Readers will learn about current treatment and outcomes, such as immunotherapy and targeted therapy approaches. Supportive care and management of the condition in resource poor countries are also discussed in detail. This is an indispensable guide for research and laboratory scientists, pediatric hematologists as well as specialist nurses involved in the care of childhood leukemia.

Chromosome Abnormalities and Genetic Counseling

Chromosome Abnormalities and Genetic Counseling
Author: R.J. MKinlay Gardner
Publisher: OUP USA
Total Pages: 650
Release: 2012
Genre: Medical
ISBN: 0195375335

Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.

Genes, Brain Function, and Behavior

Genes, Brain Function, and Behavior
Author: Douglas Wahlsten
Publisher: Academic Press
Total Pages: 300
Release: 2019-03-19
Genre: Medical
ISBN: 0128128321

Genes, Brain Function, and Behavior offers a concise description of the nervous system that processes sensory input and initiates motor movements. It reviews how behaviors are defined and measured, and how experts decide when a behavior is perturbed and in need of treatment. Behavioral disorders that are clearly related to a defect in a specific gene are reviewed, and the challenges of understanding complex traits such as intelligence, autism and schizophrenia that involve numerous genes and environmental factors are explored. New methods of altering genes offer hope for treating or even preventing difficulties that arise in our genes. This book explains what genes are, what they do in the nervous system, and how this impacts both brain function and behavior.

Concepts of Biology

Concepts of Biology
Author: Samantha Fowler
Publisher:
Total Pages: 0
Release: 2023-05-12
Genre:
ISBN: 9781739015503

Black & white print. Concepts of Biology is designed for the typical introductory biology course for nonmajors, covering standard scope and sequence requirements. The text includes interesting applications and conveys the major themes of biology, with content that is meaningful and easy to understand. The book is designed to demonstrate biology concepts and to promote scientific literacy.

Small Supernumerary Marker Chromosomes (sSMC)

Small Supernumerary Marker Chromosomes (sSMC)
Author: Thomas Liehr
Publisher: Springer Science & Business Media
Total Pages: 233
Release: 2011-11-03
Genre: Medical
ISBN: 3642207669

Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects. This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.

OBSTETRICS

OBSTETRICS
Author:
Publisher:
Total Pages: 0
Release: 2016
Genre:
ISBN: 9788131247051

The Philadelphia Chromosome: A Genetic Mystery, a Lethal Cancer, and the Improbable Invention of a Lifesaving Treatment

The Philadelphia Chromosome: A Genetic Mystery, a Lethal Cancer, and the Improbable Invention of a Lifesaving Treatment
Author: Jessica Wapner
Publisher: The Experiment, LLC
Total Pages: 345
Release: 2014-04-08
Genre: Health & Fitness
ISBN: 1615191658

One of The Wall Street Journal’s 10 Best Nonfiction Books of the Year Philadelphia, 1959: A scientist scrutinizing a single human cell under a microscope detects a missing piece of DNA. That scientist, David Hungerford, had no way of knowing that he had stumbled upon the starting point of modern cancer research— the Philadelphia chromosome. It would take doctors and researchers around the world more than three decades to unravel the implications of this landmark discovery. In 1990, the Philadelphia chromosome was recognized as the sole cause of a deadly blood cancer, chronic myeloid leukemia, or CML. Cancer research would never be the same. Science journalist Jessica Wapner reconstructs more than forty years of crucial breakthroughs, clearly explains the science behind them, and pays tribute—with extensive original reporting, including more than thirty-five interviews—to the dozens of researchers, doctors, and patients with a direct role in this inspirational story. Their curiosity and determination would ultimately lead to a lifesaving treatment unlike anything before it. The Philadelphia Chromosome chronicles the remarkable change of fortune for the more than 70,000 people worldwide who are diagnosed with CML each year. It is a celebration of a rare triumph in the battle against cancer and a blueprint for future research, as doctors and scientists race to uncover and treat the genetic roots of a wide range of cancers.