Management of genetic syndromes:
Saved in:
| Format: | Book |
|---|---|
| Language: | English |
| Published: |
Hoboken, N. J.
Wiley-Lyss
2005
|
| Edition: | 2. ed. |
| Subjects: | |
| Online Access: | Inhaltsverzeichnis |
| Physical Description: | XVII, 695 S. Ill. |
| ISBN: | 0471308706 |
Staff View
MARC
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| 245 | 1 | 0 | |a Management of genetic syndromes |c ed. by Suzanne B. Cassidy ... |
| 250 | |a 2. ed. | ||
| 264 | 1 | |a Hoboken, N. J. |b Wiley-Lyss |c 2005 | |
| 300 | |a XVII, 695 S. |b Ill. | ||
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| 650 | 7 | |a Genética |2 larpcal | |
| 650 | 4 | |a Maladies héréditaires | |
| 650 | 7 | |a Síndromes orofaciodigitais |2 larpcal | |
| 650 | 4 | |a Abnormalities, Multiple |x diagnosis | |
| 650 | 4 | |a Abnormalities, Multiple |x therapy | |
| 650 | 4 | |a Genetic Diseases, Inborn |x diagnosis | |
| 650 | 4 | |a Genetic Diseases, Inborn |x therapy | |
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Record in the Search Index
| _version_ | 1804133598859624448 |
|---|---|
| adam_text | CONTENTS
FOREWORD TO THE SECOND EDITION ix
FOREWORD TO THE FIRST EDITION xi
PREFACE xiii
CONTRIBUTORS xv
1 Introduction 1
Suzanne B. Cassidy and Judith E. Allanson
2 Aarskog Syndrome 7
Roger E. Stevenson
3 Achondroplasia 13
Richard M. Pauli
4 Alagille Syndrome 31
Binita M. Kamath and Ian D. Krantz
5 Albinism and Hermansky Pudlak Syndrome 41
Richard A. King and C. Gail Summers
6 Angelman Syndrome 53
Charles A. Williams
7 Arthrogryposis 63
Judith G. Hall
8 ATR X 77
Richard J. Gibbons
9 Bardet Biedl Syndrome 87
Anne M. Slavotinek
10 Beckwith Wiedemann Syndrome and Hemihyperplasia 101
Rosanna Weksberg and Cheryl Shuman
11 CHARGE Association 117
Christine A. Oley
v
vi CONTENTS
12 Coffin Lowry Syndrome I27
Alasdair G. W. Hunter
13 Cornelia de Lange Syndrome 139
David R. Fitzpatrick and Antonie D. Kline
14 Costello Syndrome 151
Angela E. Lin, Karen W. Gripp, and Bronwyn Kerr
15 Cranlosynostosis Syndromes 163
Karen W. Gripp and Elaine H. Zackai
16 Deletion 22ql3 Syndrome (Phelan McDermid Syndrome) 171
Mary C. Phelan, Gail A. Stapleton and R. Curtis Rogers
17 Denys Drash and Frasier Syndromes 183
Carol L. Clericuiio
18 Down Syndrome 191
Alasdair G.W. Hunter
19 Ehlers Danlos Syndromes 211
Richard J. Wenstrup and Leah B. Hoechstetter
20 Fetal Alcohol Syndrome and Fetal Alcohol Spectrum Disorder 225
Albert E. Chudley and Sally E. Longstaffe
21 Fetal Anticonvulsant Syndrome 239
Renata C. Gallagher, Kerry Kingham and H. Eugene Hoyme
22 Fragile X Syndrome 251
Randi J. Hagerman
23 Gorlin Syndrome (Nevoid Basal Cell Carcinoma Syndrome) 265
Peter Farndon
24 Hereditary Hemorrhagic Telangiectasia 279
Mary E. M. Porteous and Jonathan N. Berg
25 Holoprosencephaly 291
Andrea L. Gropman and Maximilian Muenke
26 Incontinentia Pigmenti 309
Dian Donnai
27 Kabuki Syndrome 315
Louanne Hudgins
28 Klinefelter Syndrome 323
Joe Leigh Simpson, John M, Graham, Jr., Carole Samango Sprouse, and Ronald Swerdloff
29 Marfan Syndrome 335
Iris Schrijver, Deborah M. Alcorn, and Uta Francke
30 Myotonic Dystrophy Type 1 351
Christine E. M. De Die Smulders, Frans G. I. Jennekens, and Chris J. Hb weler
31 Neurofibromatosis Type 1 369
David Viskochil
32 Noonan Syndrome 385
Judith E. A Hanson
33 Oculo Auriculo Vertebral Spectrum 399
Robert J. Gorlin
34 Osteogenesis Imperfecta 407
Joan C. Marini, Anne D. Letocha, and Edith J. Chernoff
CONTENTS vii
35 Pallister Hall and Greig Cephalopolysyndactyly Syndromes 421
Leslie G. Biesecker
36 Prader Willi Syndrome 429
Suzanne B. Cassidy and Shawn E. McCandless
37 Proteus Syndrome 449
Leslie G. Biesecker
38 Rett Syndrome 457
Eric E. Smeets and Connie T. R. M. Schrander Stumpel
39 Robin Sequence 469
Robert J. Shprintzen
40 Rubinstein Taybi Syndrome 479
Raoul C. M. Hennekam
41 Russell Silver Syndrome 489
Howard M. Saal
42 Smith Lemli Opitz Syndrome 497
Christopher Cunniff and Theresa A. Grebe
43 Smith Magenis Syndrome 507
Ann C. M. Smith and Andrea Gropman
44 Sotos Syndrome 527
Trevor R. P. Cole
45 Stickler Syndrome 539
Clair Francomano, Douglas J. Wilkin, and Ruth M. Liberfarb
46 Treacher Collins Syndrome 547
Marilyn C. Jones
47 TVisomy 18 and TWsomy 13 Syndromes 555
John C. Carey
48 Tuberous Sclerosis 569
John R. W. Yates
49 Turner Syndrome 589
Virginia P. Sybert
50 VATER Association 607
Bryan D. Hall
51 Velo Cardio Facial Syndrome 615
Robert J. Shprintzen
52 Von Hippel Lindau Syndrome 633
R. Neil Schimke and Debra L. Collins
53 WAGR Syndrome 645
Carol L. Clericuzio
54 Williams Syndrome 655
Colleen A. Morris
55 Wolf Hirschhorn (4p ) Syndrome 667
Agatino Battaglia
INDEX 677
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| indexdate | 2024-07-09T20:11:16Z |
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| isbn | 0471308706 |
| language | English |
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| physical | XVII, 695 S. Ill. |
| publishDate | 2005 |
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| publisher | Wiley-Lyss |
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| spelling | Management of genetic syndromes ed. by Suzanne B. Cassidy ... 2. ed. Hoboken, N. J. Wiley-Lyss 2005 XVII, 695 S. Ill. txt rdacontent n rdamedia nc rdacarrier Aanleg gtt Anomalia crâniofacial larpcal Erfelijke ziekten gtt Genética larpcal Maladies héréditaires Síndromes orofaciodigitais larpcal Abnormalities, Multiple diagnosis Abnormalities, Multiple therapy Genetic Diseases, Inborn diagnosis Genetic Diseases, Inborn therapy Genetic disorders Erbkrankheit (DE-588)4015106-2 gnd rswk-swf Erbkrankheit (DE-588)4015106-2 s DE-604 Cassidy, Suzanne B. Sonstige oth HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=013352576&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Management of genetic syndromes Aanleg gtt Anomalia crâniofacial larpcal Erfelijke ziekten gtt Genética larpcal Maladies héréditaires Síndromes orofaciodigitais larpcal Abnormalities, Multiple diagnosis Abnormalities, Multiple therapy Genetic Diseases, Inborn diagnosis Genetic Diseases, Inborn therapy Genetic disorders Erbkrankheit (DE-588)4015106-2 gnd |
| subject_GND | (DE-588)4015106-2 |
| title | Management of genetic syndromes |
| title_auth | Management of genetic syndromes |
| title_exact_search | Management of genetic syndromes |
| title_full | Management of genetic syndromes ed. by Suzanne B. Cassidy ... |
| title_fullStr | Management of genetic syndromes ed. by Suzanne B. Cassidy ... |
| title_full_unstemmed | Management of genetic syndromes ed. by Suzanne B. Cassidy ... |
| title_short | Management of genetic syndromes |
| title_sort | management of genetic syndromes |
| topic | Aanleg gtt Anomalia crâniofacial larpcal Erfelijke ziekten gtt Genética larpcal Maladies héréditaires Síndromes orofaciodigitais larpcal Abnormalities, Multiple diagnosis Abnormalities, Multiple therapy Genetic Diseases, Inborn diagnosis Genetic Diseases, Inborn therapy Genetic disorders Erbkrankheit (DE-588)4015106-2 gnd |
| topic_facet | Aanleg Anomalia crâniofacial Erfelijke ziekten Genética Maladies héréditaires Síndromes orofaciodigitais Abnormalities, Multiple diagnosis Abnormalities, Multiple therapy Genetic Diseases, Inborn diagnosis Genetic Diseases, Inborn therapy Genetic disorders Erbkrankheit |
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