The Principles of Clinical Cytogenetics

Author: Steven L. Gersen
Publisher: Springer Science & Business Media
ISBN: 9781441916884
Release Date: 2013-03-26
Genre: Medical

In this thoroughly revised and expanded third edition of the highly praised classic, The Principles of Clinical Cytogenetics, a panel of hands-on experts update their descriptions of the basic concepts and interpretations involved in chromosome analysis to include the many advances that have occurred in the field. Among the highlights are a full chapter devoted to advances in chromosome microarray, soon to become a standard of care in this field, as well as an update on chromosome nomenclature as reflected in ISCN 2009. Other features include an update on automation to reflect the current state of the art, an update on hematopoietic neoplasms to reflect the new WHO guidelines, and updates on all regulatory changes that have been implemented. Cutting edge and readily accessible, The Principles of Clinical Cytogenetics, Third Edition offers physicians who depend on the cytogenetics laboratory for the diagnosis of their patients, students in cytogenetics programs, graduate and medical students studying for board examinations, cytogenetics technologists, and cytogeneticists a clear understanding of what happens in the cytogenetics laboratory to facilitate accurate and timely diagnoses.

Human Cytogenetics

Author: John L. Hamerton
Publisher: Academic Press
ISBN: 9781483266954
Release Date: 2013-10-22
Genre: Health & Fitness

Human Cytogenetics: Clinical Cytogenetics, Volume II presents the general theoretical principles and clinical aspects of cytogenetics, a branch of genetics that deals specifically with the study of the chromosomes. The volume focuses on the clinical cytogenetics of human. It discusses the sex chromosomes and their abnormalities and the abnormalities of sexual development and differentiation; mechanism of sex determination in mammals; major autosomal abnormalities found in human populations; and chromosome abnormalities in relation to human pregnancy wastage and chromosome changes in neoplasia. The book will be a great reference book for geneticists, cytogeneticists, pathologists, clinicians, and medical students.

Molekulare Humangenetik

Author: Tom Strachan
Publisher: Spektrum Akademischer Verlag
ISBN: 3827414938
Release Date: 2005-05-12
Genre: Science

Die vorliegende 3. Auflage der Molekularen Humangenetik ist völlig neu überarbeitet - unter Berücksichtigung der Entdeckungen, die im Zuge und in der Folge des Human Genome Project gemacht wurden. Die einführenden Kapitel (Teil I) beschreiben die Grundlagen wie DNA-Struktur und -Funktion, Chromosomen, Zellen und Entwicklung, Stammbaumanalysen und grundlegende Techniken im Labor. In Teil II werden die verschiedenen Genomsequenzierungsprojekte und die dadurch ermöglichten Einblicke in Organisation, Expression, Variabilität und Evolution des menschlichen Genoms gezeigt. Die Kartierung, Identifizierung und Diagnose der Ursachen von mendelnden und komplexen Krankheiten sowie Krebs ist Schwerpunkt von Teil III. Der letzte Teil gibt Ausblicke auf die funktionelle Genomik und Bioinformatik, auf Tiermodelle und Therapien. Das Buch soll eine Brücke bilden zwischen den grundlegenden Lehrbüchern und der Forschungsliteratur, sodass auch Interessierte mit relativ wenig Hintergrundwissen zum Thema die neuesten Forschungsergebnisse lesen und beurteilen können.

Clinical Cytogenetics An Issue of Clinics in Laboratory Medicine E Book

Author: Caroline Astbury
Publisher: Elsevier Health Sciences
ISBN: 9781455709359
Release Date: 2011-12-28
Genre: Medical

This issue of Clinics in Laboratory Medicine, Guest Edited by Caroline Astbury, PhD, FACMG, will focus on Cytogenetics, with topics including: Chronic lymphocytic leukemia; Acute lymphocytic leukemia; Acute myelogenous leukemia; Chronic myelogenous leukemia; Plasma cell myeloma; Lymphomas; Solid tumors; Myelodysplastic syndromes; SNP arrays in clinical practice; Prenatal arrays; FISH (including Paraffin-embedded (PET) FISH); New and old microdeletion and microduplication syndromes; Sex chromosome and sex chromosome abnormalities; Autosomal aneuploidy; Microarray-CGH interpretation and Genomic Integrity; Structural chromosome rearrangements and complex chromosome rearrangements; and UPD/imprinting.

Pr natale Medizin

Author: Wolfgang Holzgreve
Publisher: Springer-Verlag
ISBN: 9783642710483
Release Date: 2013-03-07
Genre: Medical


Humangenetische Diagnostik

Author: C.R. Bartram
Publisher: Springer-Verlag
ISBN: 9783642573255
Release Date: 2013-03-08
Genre: Science

Durch die Human-Genomforschung bieten sich faszinierende Möglichkeiten für die Prävention, Diagnose und Therapie von Krankheiten. Allerdings sind mit dieser Forschung - insbesondere mit der Anwendung der gewonnenen Ergebnisse in der medizinischen Praxis - auch Risiken verbunden. Vielfach gibt es für den Umgang mit diesen Risiken und den damit verbundenen Entscheidungsunsicherheiten noch keine gesellschaftlich akzeptierten Prozeduren. Besonders die Anwendung genetischer Tests im Gesundheitsbereich wird zunehmend von einer breiten Öffentlichkeit und in Fachkreisen diskutiert. Neben ungeklärten naturwissenschaftlich-medizinischen Problemen stehen dabei moralische Fragen im Vordergrund. Die vorliegende Studie untersucht die wissenschaftlichen Grundlagen und gesellschaftlichen Konsequenzen der humangenetischen Diagnostik. Die Studie schließt mit einem Empfehlungsteil der sich an Wissenschaft, Politik und Öffentlichkeit richtet.

Manual of Cytogenetics in Reproductive Biology

Author: Pankaj Talwar
Publisher: JP Medical Ltd
ISBN: 9789350909928
Release Date: 2014-02-28
Genre: Medical

Examines the diagnostic role of cytogenetics in improving the outcome of assisted reproductive technologies (ART). Covers basics of genetics, followed by investigative cytogenetics, applied cytogenetics, recent advances, preimplantation and prenatal cytogenetics.

Die Gene

Author: Siddhartha Mukherjee
Publisher:
ISBN: 3100022718
Release Date: 2017-05-24
Genre:


Cytogenetic Laboratory Management

Author: Susan Mahler Zneimer
Publisher: John Wiley & Sons
ISBN: 9781119069744
Release Date: 2016-11-21
Genre: Science

Cytogenetic Laboratory Management: Chromosomal, FISH and Microarray-Based Best Practices and Procedures is a practical guide that describes how to develop and implement best practice processes and procedures in the genetic laboratory setting. The text first describes good laboratory practices, including quality management, design control of tests and FDA guidelines for laboratory developed tests, and pre-clinical validation study designs. The second focus of the book describes best practices for staffing and training, including cost of testing, staffing requirements, process improvement using Six Sigma techniques, training and competency guidelines and complete training programs for cytogenetic and molecular genetic technologists. The third part of the text provides step-wise standard operating procedures for chromosomal, FISH and microarray-based tests, including pre-analytic, analytic and post-analytic steps in testing, and divided into categories by specimen type, and test-type. All three sections of the book include example worksheets, procedures, and other illustrative examples that can be downloaded from the Wiley website to be used directly without having to develop prototypes in your laboratory. Providing both a wealth of information on laboratory management and molecular and cytogenetic testing, Cytogenetic Laboratory Management will be an essential tool for laboratorians world-wide in the field of laboratory testing and genetics testing in particular. This book gives the essentials of: Developing and implementing good quality management programs in laboratories Understanding design control of tests and pre-clinical validations studies and reports FDA guidelines for laboratory developed tests Use of reagents, instruments and equipment Cost of testing assessment and process improvement using Six Sigma methodology Staffing training and competency objectives Complete training programs for molecular and cytogenetic technologists Standard operating procedures for all components of chromosomal analysis, FISH and microarray testing of different specimen types This volume is a companion to Cytogenetic Abnormalities: Chromosomal, FISH and Microarray-Based Clinical Reporting. The combined volumes give an expansive approach to performing, reporting and interpreting cytogenetic laboratory testing and the necessary management practices, staff and testing requirements.