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E-grāmata: Cassidy and Allanson's Management of Genetic Syndromes

Edited by (University of Utah), Edited by (University of Utah), Edited by (University of California at Irvine, Orange, CA), Edited by (University of Pisa)
  • Formāts: PDF+DRM
  • Izdošanas datums: 07-Oct-2020
  • Izdevniecība: Wiley-Blackwell
  • Valoda: eng
  • ISBN-13: 9781119432647
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  • Formāts: PDF+DRM
  • Izdošanas datums: 07-Oct-2020
  • Izdevniecība: Wiley-Blackwell
  • Valoda: eng
  • ISBN-13: 9781119432647
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"This fourth edition of the book Cassidy's and Allanson's Management of Genetic Syndromes will be unchanged in character but will be current in its content. It will include updated information on identification (including newly-developed diagnostic criteria), genetic basis and diagnostic testing, and management for each of the 59 included disorders. The aims of this book have not changed: to provide a resource on diagnosis, genetic counseling and management for medical professionals (medical geneticists,genetic counselors, and primary care providers) caring for individuals of all ages affected by relatively common genetic syndromes. It will continue to exclude traditional metabolic disorders, which are well-covered in other resources. The format will remain essentially unchanged, though the editors will once again examine the feasibility of a brief tabular summary of recommended evaluations at the end of each chapter. (Ideally these concise summaries could be available and freely accessible online). Again, each chapter will be organized in the same manner and cover the same general topics. In addition, there will be an increase in the number of disorders slightly to approximately 60 as a result of new expertise, newly recognized conditions, and conditions whose frequency has recently been recognized to be higher than previously realized"--

The most recent update to one of the most essential references on medical genetics 

Cassidy and Allanson's Management of Genetic Syndromes, 4th Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes for students, clinicians, and researchers in the field of medical genetics. The 4th edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. 

Each, ”expert authored”, chapter includes sections on: 

·         Incidence 

·         Diagnostic criteria 

·         Etiology, pathogenesis and genetics 

·         Diagnostic testing 

·         Differential diagnosis 

·         Manifestations and Management (by system) 

The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management   represents the centerpiece of each entry and is unmatched by other genetic syndrome references. 

Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all health care professionals seeking to stay current on the routine care and management of individuals with genetic disorders. 

 

Foreword To The Fourth Edition xi
Foreword To The Third Edition xiii
Foreword To The Second Edition xv
Foreword To The First Edition xvii
Preface xix
List Of Contributors xxi
Introduction xxvii
1 Aarskog Syndrome 1(8)
Roger E. Stevenson
2 Achondroplasia 9(22)
Richard M. Pauli
Lorenzo Botto
3 Alagille Syndrome 31(14)
Henry C. Lin
an D. Krantz
4 Albinism: Ocular and Oculocutaneous Albinism and Hermansky-Pudlak Syndrome 45(16)
C. Gail Summers
David R. Adams
5 Angelman Syndrome 61(14)
Charles A. Williams
Jennifer M. Mueller-Mathews
6 Arthrogryposis 75(18)
Judith G. Hall
7 ATR-X: α Thalassemia/Mental Retardation-X-Linked 93(14)
Richard J. Gibbons
8 Bardet-Biedl Syndrome 107(18)
Anne M. Slavotinek
9 Beckwith-Wiedemann Syndrome and Hemihyperplasia 125(22)
Cheryl Shuman
Rosanna Weksberg
10 Cardio-Facio-Cutaneous Syndrome 147(10)
Maria Ines Kavamura
Giovanni Neri
11 CHARGE Syndrome 157(14)
Donna M. Martin
Christine A. Oley
Conny M. van Ravenswaaij-Arts
12 Coffin-Lowry Syndrome 171(14)
R. Curtis Rogers
13 Coffin-Siris Syndrome 185(10)
Tomoki Kosho
Noriko Miyake
14 Cohen Syndrome 195(12)
Kate E. Chandler
15 Cornelia de Lange Syndrome 207(18)
Antonie D. Kline
Matthew Deardorff
16 Costello Syndrome 225(16)
Bronwyn Kerr
Karen W. Gripp
Emma M.M. Burkitt Wright
17 Craniosynostosis Syndromes 241(12)
Elizabeth J. Bhoj
Elaine H. Zackai
18 Deletion 1p36 Syndrome 253(12)
Agatino Battaglia
19 Deletion 4p: Wolf-Hirschhorn Syndrome 265(16)
Agatino Battaglia
20 Deletion 5p Syndrome 281(10)
Antonie D. Kline
Joanne M. Nguyen
Dennis J. Campbell
21 Deletion 22q11.2 (Velo-Cardio-Facial Syndrome/DiGeorge Syndrome) 291(26)
Donna M. McDonald-McGinn
Stephanie Jeong
Michael-John McGinn II
Elaine H. Zackai
Marta Unolt
22 Deletion 22q13 Syndrome: Phelan-McDermid Syndrome 317(18)
Katy Phelan
R. Curtis Rogers
Luigi Boccuto
23 Denys-Drash Syndrome, Frasier Syndrome, and WAGR Syndrome (WT/-related Disorders) 335(20)
Joyce T. Turner
Jeffrey S. Dome
24 Down Syndrome 355(34)
Aditi Korlimarla
Sarah J. Hart
Gail A. Spiridigliozzi
Priya S. Kishnani
25 Ehlers-Danlos Syndromes 389(16)
Brad T. Tinkle
26 Fetal Alcohol Spectrum Disorders 405(20)
H. Eugene Hoyme
Prachi E. Shah
27 Fetal Anticonvulsant Syndrome 425(18)
Elizabeth A. Conover
Omar Abdul-Rahman
H. Eugene Hoyme
28 Fragile x Syndrome and Premutation-Associated Disorders 443(16)
Randi J. Hagerman
29 Gorlin Syndrome: Nevoid Basal Cell Carcinoma Syndrome 459(16)
Peter A. Farndon
D. Gareth Evans
30 Hereditary Hemorrhagic Telangiectasia 475(12)
Jonathan N. Berg
Anette D. Kjeldsen
31 Holoprosencephaly 487(18)
Paul Kruszka
Andrea L. Gropman
Maximilian Muenke
32 Incontinentia Pigmenti 505(10)
Dian Donnai
Elizabeth A. Jones
33 Inverted Duplicated Chromosome 15 Syndrome (Isodicentric 15) 515(14)
Agatino Battaglia
34 Kabuki Syndrome 529(10)
Sarah Dugan
35 47,XXY (Klinefelter Syndrome) and Related X and Y Chromosomal Conditions 539(24)
Carole Samango-Sprouse
John M. Graham Jr
Debra R. Counts
Jeannie Visootsak
36 Loeys-Dietz Syndrome 563(14)
Aline Verstraeten
Harry C. Dietz
Bart L. Loeys
37 Marfan Syndrome 577(20)
Uta Francke
38 Mowat-Wilson Syndrome 597(14)
David Mowat
Meredith Wilson
39 Myotonic Dystrophy Type 1 611(18)
Isis B.T. Joosten
Kees Okkersen
Baziel G.M. van Engelen
Catharina G. Faber
40 Neurofibromatosis Type 1 629(22)
David Viskochil
41 Noonan Syndrome 651(20)
Judith E. Allanson
Amy E. Roberts
42 Oculo-Auriculo-Vertebral Spectrum 671(12)
Koenraad Devriendt
Luc De Smet
lngele Casteels
43 Osteogenesis Imperfecta 683(24)
An N. Dang Do
Joan C. Marini
44 Pallister-Hall Syndrome and Greig Cephalopolysyndactyly Syndrome 707(10)
Leslie G. Biesecker
45 Pallister-Killian Syndrome 717(18)
Emanuela Salzano
Sarah E. Raible
Ian D. Krantz
46 Prader-Willi Syndrome 735(28)
Shawn E. McCandless
Suzanne B. Cassidy
47 Proteus Syndrome 763(12)
Leslie G. Biesecker
48 PTEN Hamartoma Tumor Syndrome 775(16)
Joanne Ngeow
Charis Eng
49 Rett Syndrome 791(16)
Eric E. Smeets
50 Robin Sequence 807(16)
Howard M. Saal
51 Rubinstein-Taybi Syndrome 823(14)
Leonie A. Menke
Raoul C.M. Hennekam
52 Silver-Russell Syndrome 837(14)
Emma L. Wakeling
53 Smith-Lemli-Opitz Syndrome 851(12)
Alicia Latham
Christopher Cunniff
54 Smith-Magenis Syndrome 863(32)
Ann C.M. Smith
Andrea L Gropman
55 Sotos Syndrome 895(20)
Trevor R.P. Cole
Alison C. Foster
56 Stickler Syndrome 915(12)
Mary B. Sheppard
Clair A. Francomano
57 Treacher Collins Syndrome and Related Disorders 927(10)
Marilyn C. Jones
58 Trisomy 18 and Trisomy 13 Syndromes 937(20)
John C. Carey
59 Tuberous Sclerosis Complex 957(20)
Laura S. Farach
Kit Sing Au
Hope Northrup
60 Turner Syndrome 977(18)
Angela E. Lin
Melissa L. Crenshaw
61 VATER/VACTERL Association 995(10)
Benjamin D. Solomon
Bryan D. Hall
62 Von Hippel-Lindau Syndrome 1005(16)
Samantha E. Greenberg
Luke D. Maese
Benjamin L. Maughan
63 Williams Syndrome 1021(18)
Colleen A. Morris
Carolyn B. Mervis
Index 1039
JOHN C. CAREY, Professor of Pediatrics, Department of Pediatrics, Division of Medical Genetics, University of Utah.

AGATINO BATTAGLIA, Head of Research in Neuropsychiatric Genetics, IRCCS Stella Maris Foundation, Pisa, Italy.

DAVID VISKOCHIL, Professor of Pediatrics, Department of Pediatrics, Division of Medical Genetics, University of Utah.

SUZANNE B. CASSIDY, Clinical Professor of Pediatrics Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco.