Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders

 
9780128125328: Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders
Vedi tutte le copie di questo ISBN:
 
 

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. This comprehensive, yet practical, resource emphasizes theory and research fundamentals relating to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine. Updated sections in this release cover the genetics of cardiovascular, respiratory and gastrointestinal disorders, with an emphasis on genetic determinants and new pathways for diagnosis, prevention and disease management.

In addition, genetic researchers, students and health professionals will find new and fully revised chapters on the molecular genetics of congenital heart defects, inherited cardiomyopathies, hypertension, cystic fibrosis, asthma, hereditary pulmonary emphysema, inflammatory bowel disease, and bile pigment metabolism disorders among other conditions.

  • Offers pathways for diagnosis, prevention and disease management
  • Includes color images supporting identification, concept illustration and method processing
  • Features contributions by leading international researchers and practitioners of medical genetics

Le informazioni nella sezione "Riassunto" possono far riferimento a edizioni diverse di questo titolo.

L'autore:

Dr. Reed Pyeritz is a medical genetics doctor in Philadelphia, Pennsylvania and is affiliated with Hospitals of the University of Pennsylvania-Penn Presbyterian. Dr. Pyeritz focuses his research in two areas - Mendelian disorders of the cardiovascular system (especially those involving defects of connective tissue) and ethical, legal and social implications of human genetics. He is continuing his studies, begun over 20 years ago, of Marfan syndrome and related conditions - diseases in which the aorta and occasionally major arterial branches gradually enlarge and dissect, leading to early demise if untreated. Current efforts include a multicenter trial of angiotensin receptor blockade in Marfan syndrome, the identification of additional genes that predispose to arteriopathy, and improving methods for diagnosing and treating arterio-venous malformations, especially in hereditary hemorrhagic telangiectasia (HHT). Dr. Pyeritz directs Penn CIGHT (Center for the Integration of Genetic Healthcare Technologies). Supported by the ELSI Branch of the National Human Genome Research Institute, Penn CIGHT conducts research in the broad area of ‘uncertainty’ as related to the introduction of evolving approaches to assaying a patient’s genotype.

Bruce R. Korf is the director of the Heflin Center for Human Genetics and chairman of the Department of Genetics at the University of Alabama at Birmingham. In April 2009, he began a two-year term as president of the American College of Medical Genetics (ACMG). Korf received his M.D. from Cornell University Medical College and his Ph.D. in genetics and cell biology from Rockefeller University. He completed a residency in pediatrics, pediatric neurology, and genetics at Children's Hospital, Boston. Prior to his appointment at the University of Alabama, he served as clinical director in the Division of Genetics at Children's Hospital from 1986 to 1999, and as the medical director of the Harvard-Partners Center for Genetics and Genomics from 1999 to 2002. He was associate professor of neurology at Harvard Medical School and directed postdoctoral training in medical and laboratory genetics at hospitals affiliated with Harvard. Korf's principal area of research is neurofibromatosis. Korf is the author of Human Genetics: A Problem-Based Approach, an introductory graduate textbook used by medical students and genetic counselors. He is co-author, with Dorian Pritchard, of Medical Genetics at a Glance, and an editor of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics.

Wayne W. Grody, M.D., Ph.D. is a Professor in the Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics at the UCLA School of Medicine. He is the director of the Diagnostic Molecular Pathology Laboratory within the UCLA Medical Center, and is also an attending physician in the Department of Pediatrics, specializing in the care of patients with or at risk for genetic disorders. He has been one of the primary developers of quality assurance and ethical guidelines for DNA-based genetic testing for a number of governmental and professional agencies including the FDA, AMA, CAP, ACMG, ASHG, NCCLS, CDC, NIH-DOE Human Genome Project (ELSI program), and PSRGN. He served as a member of the NIH-DOE Task Force on Genetic Testing, and was the working group chair for development of national guidelines for cystic fibrosis and factor V-Leiden mutation screening. Most recently, he was appointed chair of an Advisory Committee on Genomic Medicine for the entire VA healthcare system. He did his undergraduate work at Johns Hopkins University, received his M.D. and Ph.D. at Baylor College of Medicine, and completed residency and fellowship training at UCLA. He is double board-certified by the American Board of Pathology (Anatomic and Clinical Pathology, Molecular Genetic Pathology) and the American Board of Medical Genetics (Clinical Genetics, Molecular Genetics, and Biochemical Genetics).

Dalla quarta di copertina:

For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics, Seventh Edition has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly.

In this Volume, Cardiovascular, Respiratory, and Gastrointestinal Disorders, leading international contributors examine the genetics of cardiovascular, respiratory, and gastrointestinal disorders in-depth, with emphasis on understanding the genetic determinants of these disorders and identifying pathways for diagnosis, prevention, and disease management that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the molecular genetics of congenital heart defects, inherited cardiomyopathies, hypertension, cystic fibrosis, asthma, hereditary pulmonary emphysema, inflammatory bowel disease, and bile pigment metabolism disorders among other conditions.

With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers.

Le informazioni nella sezione "Su questo libro" possono far riferimento a edizioni diverse di questo titolo.

I migliori risultati di ricerca su AbeBooks

Foto dell'editore

1.

Editore: Elsevier Science Publishing Co Inc, United States (2019)
ISBN 10: 0128125322 ISBN 13: 9780128125328
Nuovo Rilegato Quantità: 10
Da
The Book Depository
(London, Regno Unito)
Valutazione libreria

Descrizione libro Elsevier Science Publishing Co Inc, United States, 2019. Hardback. Condizione: New. 7th edition. Language: English. Brand new Book. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. This comprehensive, yet practical, resource emphasizes theory and research fundamentals relating to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine. Updated sections in this release cover the genetics of cardiovascular, respiratory and gastrointestinal disorders, with an emphasis on genetic determinants and new pathways for diagnosis, prevention and disease management. In addition, genetic researchers, students and health professionals will find new and fully revised chapters on the molecular genetics of congenital heart defects, inherited cardiomyopathies, hypertension, cystic fibrosis, asthma, hereditary pulmonary emphysema, inflammatory bowel disease, and bile pigment metabolism disorders among other conditions. Codice articolo AA59780128125328

Informazioni sul venditore | Contattare il venditore

Compra nuovo
EUR 87,02
Convertire valuta

Aggiungere al carrello

Spese di spedizione: GRATIS
Da: Regno Unito a: U.S.A.
Destinazione, tempi e costi
Foto dell'editore

2.

Reed Pyeritz
ISBN 10: 0128125322 ISBN 13: 9780128125328
Nuovo Quantità: 1
Da
Basi6 International
(Irving, TX, U.S.A.)
Valutazione libreria

Descrizione libro Condizione: Brand New. New. US edition. Expediting shipping for all USA and Europe orders excluding PO Box. Excellent Customer Service. Codice articolo ABEUSADEC19-147671

Informazioni sul venditore | Contattare il venditore

Compra nuovo
EUR 87,14
Convertire valuta

Aggiungere al carrello

Spese di spedizione: GRATIS
In U.S.A.
Destinazione, tempi e costi
Foto dell'editore

3.

Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody
Editore: Academic Press 2019-09-03 (2019)
ISBN 10: 0128125322 ISBN 13: 9780128125328
Nuovo Rilegato Quantità: 1
Da
Chiron Media
(Wallingford, Regno Unito)
Valutazione libreria

Descrizione libro Academic Press 2019-09-03, 2019. Hardcover. Condizione: New. Codice articolo 6666-GRD-9780128125328

Informazioni sul venditore | Contattare il venditore

Compra nuovo
EUR 99,64
Convertire valuta

Aggiungere al carrello

Spese di spedizione: EUR 11,06
Da: Regno Unito a: U.S.A.
Destinazione, tempi e costi
Foto dell'editore

4.

ISBN 10: 0128125322 ISBN 13: 9780128125328
Nuovo Quantità: 1
Da
Speedy Hen LLC
(Sunrise, FL, U.S.A.)
Valutazione libreria

Descrizione libro Condizione: New. Bookseller Inventory # ST9780128125328. Codice articolo ST9780128125328

Informazioni sul venditore | Contattare il venditore

Compra nuovo
EUR 118,99
Convertire valuta

Aggiungere al carrello

Spese di spedizione: GRATIS
In U.S.A.
Destinazione, tempi e costi
Foto dell'editore

5.

ISBN 10: 0128125322 ISBN 13: 9780128125328
Nuovo Quantità: 1
Da
Speedy Hen
(London, Regno Unito)
Valutazione libreria

Descrizione libro Condizione: New. Bookseller Inventory # ST0128125322. Codice articolo ST0128125322

Informazioni sul venditore | Contattare il venditore

Compra nuovo
EUR 87,03
Convertire valuta

Aggiungere al carrello

Spese di spedizione: EUR 33,21
Da: Regno Unito a: U.S.A.
Destinazione, tempi e costi
Foto dell'editore

6.

Editore: Academic Press (2019)
ISBN 10: 0128125322 ISBN 13: 9780128125328
Nuovo Rilegato Quantità: 1
Da
The Monster Bookshop
(Fleckney, Regno Unito)
Valutazione libreria

Descrizione libro Academic Press, 2019. Hardcover. Condizione: New. BRAND NEW ** SUPER FAST SHIPPING FROM UK WAREHOUSE ** 30 DAY MONEY BACK GUARANTEE. Codice articolo mon0004973202

Informazioni sul venditore | Contattare il venditore

Compra nuovo
EUR 116,25
Convertire valuta

Aggiungere al carrello

Spese di spedizione: EUR 8,84
Da: Regno Unito a: U.S.A.
Destinazione, tempi e costi
Foto dell'editore

7.

Edited by Reed E Pyeritz , Edited by Bruce R Korf , Edited by Wayne W Grody
ISBN 10: 0128125322 ISBN 13: 9780128125328
Nuovo Quantità: 1
Da
Ria Christie Collections
(Uxbridge, Regno Unito)
Valutazione libreria

Descrizione libro Condizione: New. book. Codice articolo ria9780128125328_new

Informazioni sul venditore | Contattare il venditore

Compra nuovo
EUR 116,29
Convertire valuta

Aggiungere al carrello

Spese di spedizione: EUR 8,84
Da: Regno Unito a: U.S.A.
Destinazione, tempi e costi
Foto dell'editore

8.

Editore: Academic Press (2019)
ISBN 10: 0128125322 ISBN 13: 9780128125328
Nuovo Rilegato Quantità: 1
Valutazione libreria

Descrizione libro Academic Press, 2019. Condizione: New. 2019. 7th Edition. Hardcover. . . . . . Codice articolo V9780128125328

Informazioni sul venditore | Contattare il venditore

Compra nuovo
EUR 122,32
Convertire valuta

Aggiungere al carrello

Spese di spedizione: EUR 9,50
Da: Irlanda a: U.S.A.
Destinazione, tempi e costi
Foto dell'editore

9.

Editore: Academic Press (2019)
ISBN 10: 0128125322 ISBN 13: 9780128125328
Nuovo Rilegato Quantità: 2
Da
Revaluation Books
(Exeter, Regno Unito)
Valutazione libreria

Descrizione libro Academic Press, 2019. Hardcover. Condizione: Brand New. 7th edition. 500 pages. 9.25x7.50 inches. In Stock. Codice articolo __0128125322

Informazioni sul venditore | Contattare il venditore

Compra nuovo
EUR 108,45
Convertire valuta

Aggiungere al carrello

Spese di spedizione: EUR 38,74
Da: Regno Unito a: U.S.A.
Destinazione, tempi e costi
Foto dell'editore

10.

Editore: Academic Press
ISBN 10: 0128125322 ISBN 13: 9780128125328
Nuovo Rilegato Quantità: 1
Da
Kennys Bookstore
(Olney, MD, U.S.A.)
Valutazione libreria

Descrizione libro Academic Press. Condizione: New. 2019. 7th Edition. Hardcover. . . . . . Books ship from the US and Ireland. Codice articolo V9780128125328

Informazioni sul venditore | Contattare il venditore

Compra nuovo
EUR 151,53
Convertire valuta

Aggiungere al carrello

Spese di spedizione: EUR 8,89
In U.S.A.
Destinazione, tempi e costi

Vedi altre copie di questo libro

Vedi tutti i risultati per questo libro