Verfügbarkeit: Atlas of X-linked intellectual disability syndromes

Atlas of X-linked intellectual disability syndromes:

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Bibliographische Detailangaben
Vorheriger Titel:	Stevenson, Roger E. X-linked mental retardation
Beteiligte Personen:	Stevenson, Roger E. 1940- (VerfasserIn), Schwartz, Charles E. (VerfasserIn), Rogers, Richard Curtis 1953- (VerfasserIn)
Format:	Buch
Sprache:	Englisch
Veröffentlicht:	Oxford [u.a.] Oxford Univ. Press 2012
Ausgabe:	2. ed.
Schlagwörter:	Mental Retardation, X-Linked X-Chromosom Erbkrankheit Geistige Behinderung Atlases
Links:	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
Beschreibung:	Includes bibliographical references and index
Umfang:	XVII, 344 S. zahlr. Ill.
ISBN:	9780199811793 0199811792

Internformat

MARC


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780	0	0	\|i 1. Auflage \|a Stevenson, Roger E. \|t X-linked mental retardation
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Datensatz im Suchindex

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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
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author	Stevenson, Roger E. 1940- Schwartz, Charles E. Rogers, Richard Curtis 1953-
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author_facet	Stevenson, Roger E. 1940- Schwartz, Charles E. Rogers, Richard Curtis 1953-
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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 X-Chromosom (DE-588)4190368-7 gnd rswk-swf Erbkrankheit (DE-588)4015106-2 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 X-Chromosom (DE-588)4190368-7 gnd Erbkrankheit (DE-588)4015106-2 gnd Geistige Behinderung (DE-588)4019852-2 gnd
subject_GND	(DE-588)4190368-7 (DE-588)4015106-2 (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 X-Chromosom (DE-588)4190368-7 gnd Erbkrankheit (DE-588)4015106-2 gnd Geistige Behinderung (DE-588)4019852-2 gnd
topic_facet	Mental Retardation, X-Linked X-Chromosom Erbkrankheit 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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Inhaltsverzeichnis