Atlas of X-linked intellectual disability syndromes:
Gespeichert in:
| Vorheriger Titel: | Stevenson, Roger E. X-linked mental retardation |
|---|---|
| Hauptverfasser: | , , |
| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
Oxford [u.a.]
Oxford Univ. Press
2012
|
| Ausgabe: | 2. ed. |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | Includes bibliographical references and index |
| Beschreibung: | XVII, 344 S. zahlr. Ill. |
| ISBN: | 9780199811793 0199811792 |
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| 245 | 1 | 0 | |a Atlas of X-linked intellectual disability syndromes |c Roger E. Stevenson ; Charles E. Schwartz ; R. Curtis Rogers |
| 246 | 1 | 3 | |a X-linked mental retardation |
| 250 | |a 2. ed. | ||
| 264 | 1 | |a Oxford [u.a.] |b Oxford Univ. Press |c 2012 | |
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Datensatz im Suchindex
| _version_ | 1804149364426276864 |
|---|---|
| adam_text | Titel: Atlas of X-linked intellectual disability syndromes
Autor: Stevenson, Roger E
Jahr: 2012
TABLE OF CONTENTS
FOREWORD XI CEREBRO-PALATO-CARDiAC SYNDROME (SEE ALSO RENPENNING
SYNDROME) 53
PREFACE XIII
CHARCOT-MARIE-TOOTH NEUROPATHY, COWCHOCK VARIANT 55
AARSKOG SYNDROME 1
CHARCOT-MARIE-TOOTH NEUROPATHY, IONASESCU VARIANT 56
ABIDI SYNDROME 4
CHASSAING-LACOMBE CHONDRODYSPLASIA 57
ADRENOLEUKODYSTROPHY 6
CHRISTIAN SYNDROME 59
AGENESIS OF THE CORPUS CALLOSUM, X-LINKED 9
CHRISTIANSON SYNDROME 61
AHMAD SYNDROME 11
CHUDLEY-LOWRY SYNDROME (SEE ALSO /»TAX-ASSOCIATED XLID) 64
AICARDI SYNDROME 12
CK SYNDROME 66
ALLAN-HERNDON-DUDLEY SYNDROME 14
CLARK-BARAITSER SYNDROME 68
ALPHA-THALASSEMIA INTELLECTUAL DISABILITY
(SEE ALSO ATRX-ASSOCIATED XLID) 17 COFFIN-LOWRY SYNDROME 70
4P1S2-ASS0CIATED XLID 20 CORNELIA DE LANGE SYNDROME, X-LINKED 73
APAK ATAXIA-SPASTIC DIPLEGIA SYNDROME 22 CRANIOFACIOSKELETAL SYNDROME 76
ARMFIELD SYNDROME 24 CREATINE TRANSPORTER DEFICIENCY 78
ARTS SYNDROME 26 DUCHENNE MUSCULAR DYSTROPHY 80
/»RX-ASSOCIATED XLID 28 DYSKERATOSIS CONGENITA 82
ATAXIA-DEAFNESS-DEMENTIA, X-LINKED 30 EPILEPSY-INTELLECTUAL DISABILITY IN FEMALES (EIDF) 84
ATKIN-FLAITZ SYNDROME 32 FITZSIMMONS SYNDROME 85
^TAX-ASSOCIATED XLID 34 FLAM-ASSOCIATED XLID 87
BERGIA CARDIOMYOPATHY 37 FRAGILE X SYNDROME 89
BERTINI SYNDROME 39 GIUFFRÈ-TSUKAHARA SYNDROME 91
BÖRJESON-FORSSMAN-LEHMANN SYNDROME 41 GLYCEROL KINASE DEFICIENCY 92
BRANCHIAL ARCH SYNDROME, X-LINKED 44 GOLABI-ITO-HALL SYNDROME: (SEE ALSO RENPENNING SYNDROME) 94
CANTU SYNDROME 46 GOLDBLATT SPASTIC PARAPLEGIA SYNDROME 96
CARPENTER-WAZIRI SYNDROME (SEE ALSO ATRX-ASSOCIATED XLID) 47 GOLTZ SYNDROME 97
CEREBRO-CEREBELLO-COLOBOMA SYNDROME 49 GRAHAM ANOPHTHALMIA SYNDROME 99
CEREBRO-OCULO-GENITAL SYNDROME 51 GUSTAVSON SYNDROME 101
HALL OROFACIAL SYNDROME 103 ORAL-FACIAL-DIGITAL SYNDROME I 166
HEREDITARY BULLOUS DYSTROPHY, X-LINKED 104 ORNITHINE TRANSCARBAMOYLASE DEFICIENCY 168
HOLMES-GANG SYNDROME (SEE ALSO ATRX-ASSOCIATED XLID) 106 OTOPALATODIGITAL SYNDROME I (SEE ALSO FLAM-ASSOCIATED XLID) 170
HOMFRAYSEIZURES-CONTRACTURES 108 OTOPALATODIGITAL SYNDROME II (SEE ALSO FLA/A-ASSOCIATED XLID) 172
HYDE-FORSTER SYNDROME 109 PAINE SYNDROME
174
176
178
180
HYDRANENCEPHALY WITH ABNORMAL GENITALIA PALLISTER W SYNDROME
(SEE ALSO 4RX-ASS0CIATED XLID) 110
PARTINGTON SYNDROME (SEE ALSO ARX-ASSOCIATED XLID)
HYDROCEPHALY-CEREBELLAR AGENESIS SYNDROME 112
PELIZAEUS-MERZBACHER SYNDROME
HYDROCEPHALY-MASA SPECTRUM 113
PERIVENTRICULAR NODULAR HETEROTOPIA (SEE ALSO
HYPOPARATHYROIDISM, X-LINKED 115 FLAM-ASSOCIATED XLID) 182
INCONTINENTIA PIGMENTI 116 PETTIGREW SYNDROME 184
JUBERG-MARSIDI-BROOKS SYNDROME 118 PHOSPHOGLYCERATE KINASE DEFICIENCY 186
KANG SYNDROME 120 PLOTT SYNDROME 187
LENZ MICROPHTHALMIA SYNDROME 122 P0RTE0US SYNDROME (SEE ALSO RENPENNING SYNDROME) 188
LESCH-NYHAN SYNDROME 125 PPM X
LISSENCEPHALY AND ABNORMAL GENITALIA, X-LINKED PRIET0 SYNDR0ME
(SEE ALSO 4RX-ASS0CIATED XLID) 127
PROUD SYNDROME (SEE ALSO 4ÄX-ASS0CIATED XLID)
LISSENCEPHALY, X-LINKED 129
PYRUVATE DEHYDROGENASE DEFICIENCY
LOWE SYNDROME 132
RENPENNING SYNDROME
LUJAN SYNDROME 134
RETT SYNDROME
MARTIN-PROBST SYNDROME 136
RETT-LIKE SEIZURES-HYPOTONIA
MEHMO SYNDROME 138 RQ|FMAN SYNDRQME
MENKES SYNDROME 140 SAY.MEYER SYNDRQME
MIDAS SYNDROME 143 SCHIMKE SYNDR0ME
MILES-CARPENTER SYNDROME 145 SHASH| SYNDR0ME 210
MOHR-TRANEBJAERG SYNDROME 148 SHR,MPTON SYNDROME 212
MONOAMINE OXIDASE-A DEFICIENCY 150 S.MPS0N-GOLABI-BEHMEL SYNDROME 214
MUCOPOLYSACCHARIDOSIS IIA 151 SMITH-FINEMAN-MYERS SYNDROME 216
MYOTUBULAR MYOPATHY 153 SNYDER-ROBINSON SYNDROME 217
N-ALPHA-ACETYLTRANSFERASE DEFICIENCY 155 ST0CC0 D0S SANT0S SYNDR0ME 219
NANCE-HORAN SYNDROME 157 STOLL SYNDROME 221
NORRIE DISEASE 159 SUTHERLAND-HAAN SYNDROME (SEE ALSO RENPENNING SYNDROME) 223
OPITZ FG SYNDROME 161 TARP SYNDROME 225
OPTIC ATROPHY, X-LINKED 164 TELECANTHUS-HYPOSPADIAS SYNDROME 227
189
191
193
195
197
200
202
204
206
208
viii TABLE OF CONTENTS
TURNER XLID (SEE ALSO AP1S2-ASS0CIATED XLID) 229 XLID-PSORIASIS 288
URBAN SYNDROME 231 XUD-RETINITIS PIGMENTOSA 290
VACTERL-HYDROCEPHALUS SYNDROME 233 XLID-ROLANDIC SEIZURES 292
VASQUEZ SYNDROME 235 XLID-SPASTIC PARAPLEGIA, TYPE 7 293
WAISMAN-LAXOVA SYNDROME 237 XLID-SPASTIC PARAPLEGIA-ATHETOSIS 295
WARKANY SYNDROME 239 XUD-SPONDYLOEPIMETAPHYSEAL DYSPLASIA 297
WIEACKER-WOLFF SYNDROME 240 XLID-THYROID APLASIA-CUTIS VERTICIS GYRATA 299
WILSON-TURNER SYNDROME 242 XLID WITH THYROXINE-BINDING GLOBULIN DEFICIENCY 300
WITTWER SYNDROME 244 YOUNG-HUGHES SYNDROME 301
XLID-ARCH FINGERPRINTS-HYPOTONIA SYNDROME
(SEE ALSO ATRX-ASSOCIATED XLID) 246
APPENDICES
XLID-ATAXIA-APRAXIA 248
I. GENES INVOLVED IN X-LINKED INTELLECTUAL DISABILITY
XÜD-ATAX.A-DEMENTIA 250 (BYORDER OF D.SCOVERY) 303
XLID-BLINDNESS-SEIZURES-SPASTICITY 252
XLID-CHOREOATHETOSIS 254
II. XLID SYNDROMES WITH MICROCEPHALY 309
III. XLID SYNDROMES WITH MACROCEPHALY 310
XLID-CHORO.DEREMIA-ECTODERMAL DYSPLASIA 255 IV XLID SYNDROMES WITH OCULAR ANOMALIES AND/OR
VISUAL IMPAIRMENT 311
XLID-CLEFT LIP/CLEFT PALATE 256
XLID-EPILEPSY (XIDE) 258
XUD-HYDROCEPHALY-BASAL GANGLIA CALCIFICATIONS
(SEE ALSO APÏS2-ASS0CIATED XLID) 259
XLID-HYPOGAMMAGLOBULINEMIA 261
XLID-HYPOGONADISM-TREMOR 263
XLID-HYPOSPADIAS 266
XLID-HYPOTONIA-RECURRENT INFECTIONS 267
XLID-ICHTHYOSIS-HYPOGONADISM 270
XLID-INFANTILE SPASMS (SEE ALSO ARX-ASSOCIATED XLID) 271
XLID-ISOLATED GROWTH HORMONE DEFICIENCY 273
XLID-MACROCEPHALY 275
V. XLID SYNDROME WITH HEARING LOSS 314
VI. XLID SYNDROMES WITH FACIAL CLEFTING 315
VII. XLID SYNDROMES WITH CARDIAC MALFORMATIONS OR OTHER
CARDIOVASCULAR ABNORMALITIES 316
VIII. XLID SYNDROMES WITH UROGENITAL ANOMALIES 317
IX. XLID SYNDROMES WITH NEURONAL MIGRATION DISTURBANCE 318
X. XLID SYNDROMES WITH SPASTIC PARAPLEGIA 319
XI. XLID SYNDROMES WITH SEIZURES 320
XII. XLID SYNDROMES WITH HYPOTONIA 322
XIII. XLID SYNDROMES PREDOMINANTLY AFFECTING FEMALES 323
XIV. DUPLICATION OF XLID GENES AND REGIONS OF THE
X-CHROMOSOME GENOME 324
XLID-MACROCEPHALY-MACROORCHIDISM 277 XV X-|NACTIVATI0N 327
XL.D-M.CROCEPHALY-TEST.CULAR FAILURE 279 XVL SYNDROMAL XLID GENES 331
XLID-NAIL DYSTROPHY-SEIZURES 281 XV»- SYNDROMAL XLID (L.NKAGE UMITS) 332
XUD-NYSTAGMUS-SE.ZURES 283 XVI - NONSYNDROMALXUD FAM.UES 333
XL.D-PANHYPOP.TU.TAR.SM 285 X X- NONSYNDROMALXL.D FAM.UES 334
XLID-PRECOCIOUS PUBERTY 287 INDEX 339
TABLE OF CONTENTS
|
| any_adam_object | 1 |
| author | Stevenson, Roger E. 1940- Schwartz, Charles E. Rogers, Richard Curtis 1953- |
| author_GND | (DE-588)172408598 (DE-588)1024481654 |
| author_facet | Stevenson, Roger E. 1940- Schwartz, Charles E. Rogers, Richard Curtis 1953- |
| author_role | aut aut aut |
| author_sort | Stevenson, Roger E. 1940- |
| author_variant | r e s re res c e s ce ces r c r rc rcr |
| building | Verbundindex |
| bvnumber | BV040332086 |
| classification_rvk | YH 6419 |
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| dewey-sort | 3616.8588042 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| edition | 2. ed. |
| format | Book |
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| genre | Atlases |
| genre_facet | Atlases |
| id | DE-604.BV040332086 |
| illustrated | Illustrated |
| indexdate | 2024-07-10T00:21:51Z |
| institution | BVB |
| isbn | 9780199811793 0199811792 |
| language | English |
| lccn | 2011024318 |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-025186485 |
| oclc_num | 802755084 |
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| owner_facet | DE-355 DE-BY-UBR |
| physical | XVII, 344 S. zahlr. Ill. |
| publishDate | 2012 |
| publishDateSearch | 2012 |
| publishDateSort | 2012 |
| publisher | Oxford Univ. Press |
| record_format | marc |
| spelling | Stevenson, Roger E. 1940- Verfasser (DE-588)172408598 aut Atlas of X-linked intellectual disability syndromes Roger E. Stevenson ; Charles E. Schwartz ; R. Curtis Rogers X-linked mental retardation 2. ed. Oxford [u.a.] Oxford Univ. Press 2012 XVII, 344 S. zahlr. Ill. txt rdacontent n rdamedia nc rdacarrier Includes bibliographical references and index Mental Retardation, X-Linked Erbkrankheit (DE-588)4015106-2 gnd rswk-swf X-Chromosom (DE-588)4190368-7 gnd rswk-swf Geistige Behinderung (DE-588)4019852-2 gnd rswk-swf Atlases X-Chromosom (DE-588)4190368-7 s Erbkrankheit (DE-588)4015106-2 s Geistige Behinderung (DE-588)4019852-2 s DE-604 Schwartz, Charles E. Verfasser aut Rogers, Richard Curtis 1953- Verfasser (DE-588)1024481654 aut 1. Auflage Stevenson, Roger E. X-linked mental retardation HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=025186485&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Stevenson, Roger E. 1940- Schwartz, Charles E. Rogers, Richard Curtis 1953- Atlas of X-linked intellectual disability syndromes Mental Retardation, X-Linked Erbkrankheit (DE-588)4015106-2 gnd X-Chromosom (DE-588)4190368-7 gnd Geistige Behinderung (DE-588)4019852-2 gnd |
| subject_GND | (DE-588)4015106-2 (DE-588)4190368-7 (DE-588)4019852-2 |
| title | Atlas of X-linked intellectual disability syndromes |
| title_alt | X-linked mental retardation |
| title_auth | Atlas of X-linked intellectual disability syndromes |
| title_exact_search | Atlas of X-linked intellectual disability syndromes |
| title_full | Atlas of X-linked intellectual disability syndromes Roger E. Stevenson ; Charles E. Schwartz ; R. Curtis Rogers |
| title_fullStr | Atlas of X-linked intellectual disability syndromes Roger E. Stevenson ; Charles E. Schwartz ; R. Curtis Rogers |
| title_full_unstemmed | Atlas of X-linked intellectual disability syndromes Roger E. Stevenson ; Charles E. Schwartz ; R. Curtis Rogers |
| title_old | Stevenson, Roger E. X-linked mental retardation |
| title_short | Atlas of X-linked intellectual disability syndromes |
| title_sort | atlas of x linked intellectual disability syndromes |
| topic | Mental Retardation, X-Linked Erbkrankheit (DE-588)4015106-2 gnd X-Chromosom (DE-588)4190368-7 gnd Geistige Behinderung (DE-588)4019852-2 gnd |
| topic_facet | Mental Retardation, X-Linked Erbkrankheit X-Chromosom Geistige Behinderung Atlases |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=025186485&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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