Autopsy on a Case of Roberts Syndrome Reported in 1672: The Earliest Description? (English)
- New search for: Bates, A. W.
- New search for: Bates, A. W.
In:
AMERICAN JOURNAL OF MEDICAL GENETICS
;
117
;
92-96
;
2003
-
ISSN:
- Article (Journal) / Print
-
Title:Autopsy on a Case of Roberts Syndrome Reported in 1672: The Earliest Description?
-
Contributors:Bates, A. W. ( author )
-
Published in:AMERICAN JOURNAL OF MEDICAL GENETICS ; 117 ; 92-96
-
Publisher:
- New search for: JOHN WILEY & SONS LTD
-
Publication date:2003-01-01
-
Size:5 pages
-
ISSN:
-
Type of media:Article (Journal)
-
Type of material:Print
-
Language:English
- New search for: 616.042
- Further information on Dewey Decimal Classification
-
Classification:
DDC: 616.042 -
Source:
© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 117
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 1
-
DiGeorge/Velocardiofacial Syndrome: FISH Studies of Chromosomes 22q11 and 10p14, and Clinical Reports on the Proximal 22q11 DeletionBartsch, O. / Nemeckova, M. / Kocarek, E. / Wagner, A. / Puchmajerova, A. / Poppe, M. / Ounap, K. / Goetz, P. et al. | 2003
- 1
-
Association of a MAOA Gene Variant With Generalized Anxiety Disorder, but not With Panic Disorder or Major DepressionTadic, A. / Rujescu, D. / Szegedi, A. / Giegling, I. / Singer, P. / Moller, H.-J. / Dahmen, N. et al. | 2002
- 6
-
Female Carriers of Fragile X Premutations Have No Increased Risk for Additional Diseases Other Than Premature Ovarian FailureHundscheid, R. D. L. / Smits, A. P. T. / Thomas, C. M. G. / Kiemeney, L. A. L. M. / Braat, D. D. M. et al. | 2003
- 7
-
Role of Elastin Polymorphisms in Panic DisorderPhilibert, R. A. / Nelson, J. J. / Bedell, B. / Goedken, R. / Sandhu, H. K. / Noyes, R. / Crowe, R. R. et al. | 2002
- 10
-
Extended Phenotype of Pontocerebellar Hypoplasia With Infantile Spinal Muscular AtrophyRudnik-Schoneborn, S. / Sztriha, L. / Aithala, G. R. / Houge, G. / Laegreid, L. M. / Seeger, J. / Huppke, M. / Wirth, B. / Zerres, K. et al. | 2003
- 11
-
Association of an Exonic LDHA Polymorphism With Altered Respiratory Response in Probands at High Risk for Panic DisorderPhilibert, R. A. / Nelson, J. J. / Sandhu, H. K. / Crowe, R. R. / Coryell, W. H. et al. | 2002
- 18
-
Possible Parent-of-Origin Effect of Dopa Decarboxylase in Susceptibility to Bipolar Affective DisorderBorglum, A. D. / Kirov, G. / Craddock, N. / Mors, O. / Muir, W. / Murray, V. / McKee, I. / Collier, D. A. / Ewald, H. / Owen, M. J. et al. | 2002
- 18
-
Exclusion of RNX As a Major Gene in Congenital Central Hypoventilation Syndrome (CCHS, Ondine's Curse)Amiel, J. / Pelet, A. / Trang, H. / de Pontual, L. / Simonneau, M. / Munnich, A. / Gaultier, C. / Lyonnet, S. et al. | 2003
- 21
-
Biological and Environmental Contributions to Adaptive Behavior in Fragile X SyndromeGlaser, B. / Hessl, D. / Dyer-Friedman, J. / Johnston, C. / Wisbeck, J. / Taylor, A. / Reiss, A. et al. | 2003
- 23
-
Genetic Refinement and Physical Mapping of a 2.3 Mb Probable Disease Region Associated With a Bipolar Affective Disorder Susceptibility Locus on Chromosome 4q35Badenhop, R. F. / Moses, M. J. / Scimone, A. / Adams, L. J. / Kwok, J. B. J. / Jones, A.-M. / Davison, G. / Evans, M. R. / Kirkby, K. C. / Hewitt, J. E. et al. | 2002
- 30
-
Chromosomal Fragility in Patients With Triple A SyndromeReshmi-Skarja, S. / Huebner, A. / Handschug, K. / Finegold, D. N. / Clark, A. J. L. / Gollin, S. M. et al. | 2003
- 33
-
Dopamine Beta-Hydroxylase (DBH) Gene and Schizophrenia Phenotypic Variability: A Genetic Association StudyYamamoto, K. / Cubells, J. F. / Gelernter, J. / Benkelfat, C. / Lalonde, P. / Bloom, D. / Lal, S. / Labelle, A. / Turecki, G. / Rouleau, G. A. et al. | 2002
- 37
-
A New Autosomal Recessive Congenital Contractural Syndrome in an Israeli Bedouin KindredLandau, D. / Mishori-Dery, A. / Hershkovitz, R. / Narkis, G. / Elbedour, K. / Carmi, R. et al. | 2003
- 39
-
Association of GABA~A Receptors and Alcohol Dependence and the Effects of Genetic ImprintingSong, J. / Koller, D. L. / Foroud, T. / Carr, K. / Zhao, J. / Rice, J. / Nurnberger, J. I. / Begleiter, H. / Porjesz, B. / Smith, T. L. et al. | 2002
- 41
-
Disclosing the Mechanisms of Origin of De Novo Short-Arm Duplications of Chromosome 9Krepischi-Santos, A. C. V. / Vianna-Morgante, A. M. et al. | 2003
- 46
-
Functional Variation in Promoter Region of Monoamine Oxidase A and Subtypes of Alcoholism: Haplotype AnalysisParsian, A. / Cloninger, C. R. / Sinha, R. / Zhang, Z. H. et al. | 2002
- 47
-
Facial Dysgenesis: A Novel Facial Syndrome With Chromosome 7 Deletion p15.1-21.1Hoover-Fong, J. E. / Cai, J. / Cargile, C. B. / Thomas, G. H. / Patel, A. / Griffin, C. A. / Jabs, E. W. / Hamosh, A. et al. | 2003
- 51
-
Association of EEG Coherence and an Exonic GABA~BR1 Gene PolymorphismWinterer, G. / Smolka, M. / Samochowiec, J. / Ziller, M. / Mahlberg, R. / Gallinat, J. / Rommelspacher, H.-P. / Herrmann, W. M. / Sander, T. et al. | 2002
- 57
-
Recombinants of Intrachromosomal Transposition of Subtelomeres in Chromosomes 1 and 2: A Cause of Minute Terminal Chromosomal ImbalancesDaniel, A. / Baker, E. / Chia, N. / Haan, E. / Malafiej, P. / Hinton, L. / Clarke, N. / Ades, L. / Darmanian, A. / Callen, D. et al. | 2003
- 57
-
Relationship Between Functional Dopamine D2 and D3 Receptors Gene Polymorphisms and Neuroleptic Malignant SyndromeMihara, K. / Kondo, T. / Suzuki, A. / Yasui-Furukori, N. / Ono, S. / Sano, A. / Koshiro, K. / Otani, K. / Kaneko, S. et al. | 2002
- 61
-
Association Study Between Dopamine D~3 Receptor Gene Variant and Personality TraitsJonsson, E. G. / Burgert, E. / Crocq, M.-A. / Gustavsson, J. P. / Forslund, K. / Mattila-Evenden, M. / Rylander, G. / Flyckt, L. K. / Bjerkenstedt, L. / Wiesel, F.-A. et al. | 2002
- 65
-
Cryptic t(1; 12)(q44; p13.3) Translocation in a Previously Described Syndrome With Polymicrogyria, Segregating as an Apparently X-Linked TraitZollino, M. / Colosimo, C. / Zuffardi, O. / Rossi, E. / Tosolini, A. / Walsh, C. A. / Neri, G. et al. | 2003
- 66
-
Tridimensional Personality Questionnaire Trait of Harm Avoidance (Anxiety Proneness) is Linked to a Locus on Chromosome 8p21Zohar, A. H. / Dina, C. / Rosolio, N. / Osher, Y. / Gritsenko, I. / Bachner-Melman, R. / Benjamin, J. / Belmaker, R. H. / Ebstein, R. P. et al. | 2002
- 70
-
Human Nuclear Transcription Factor Gene CREM: Genomic Organization, Mutation Screening, and Association Analysis in Panic DisorderDomschke, K. / Kuhlenbaumer, G. / Schirmacher, A. / Lorenzi, C. / Armengol, L. / Dibella, D. / Gratacos, M. / Garritsen, H. S. / Nothen, M. M. / Franke, P. et al. | 2002
- 72
-
Bilateral Microphthalmia With Cyst, Facial Clefts, and Limb Anomalies: A New Syndrome With Features of Waardenburg Syndrome, Cerebro-Oculo-Nasal Syndrome, and Craniotelencephalic DysplasiaGupta, P. C. / Peralta, D. / Parker, M. / Crowe, C. / Clark, B. / Traboulsi, E. I. et al. | 2003
- 76
-
De Novo Interstitial Tandem Duplication of Chromosome 20p12.1p13de Ravel, T. J. L. / Vermeesch, J. R. / Fryns, J.-P. et al. | 2003
- 79
-
Testing the Test-Why Pursue a Better Test for Huntington Disease?Timman, R. / Maat-Kievit, A. / Brouwer-DudokdeWit, C. / Zoeteweij, M. / Breuning, M. H. / Tibben, A. et al. | 2002
- 80
-
Pachygyria and Polymicrogyria in 22q11 Deletion SyndromeEhara, H. / Maegaki, Y. / Takeshita, K. et al. | 2003
- 83
-
Aural Atresia, Microtia, Complex Heart Defect, and Hearing Loss Syndrome: Additional CaseGuion-Almeida, M. L. / Kokitsu-Nakata, N. M. et al. | 2003
- 85
-
Prenatal Diagnosis of a Rare Chromosomal Instability Syndrome: Variegated Aneuploidy Related to Premature Centromere Division (PCD)Plaja, A. / Mediano, C. / Cano, L. / Vendrell, T. / Sarret, E. / Farran, I. / Sanchez, M. A. et al. | 2003
- 86
-
An Investigation of the 5-HT~2~C Receptor Gene as a Migraine Candidate GeneJohnson, M. P. / Lea, R. A. / Curtain, R. P. / MacMillan, J. C. / Griffiths, L. R. et al. | 2002
- 87
-
Is Sonic Hedgehog (SHH) a Candidate Gene for Spina Bifida? A Pilot StudyZhu, H. / Barber, R. / Shaw, G. M. / Lammer, E. J. / Finnell, R. H. et al. | 2003
- 89
-
De Novo Mutation in the Gene Encoding Connexin-26 (GJB2) in a Sporadic Case of Keratitis-Ichthyosis-Deafness (KID) SyndromeAlvarez, A. / del Castillo, I. / Pera, A. / Villamar, M. / Moreno-Pelayo, M. A. / Moreno, F. / Moreno, R. / Tapia, M. C. et al. | 2003
- 90
-
Defining the Autism Minimum Candidate Gene Region on Chromosome 7Hutcheson, H. B. / Bradford, Y. / Folstein, S. E. / Gardiner, M. B. / Santangelo, S. L. / Sutcliffe, J. S. / Haines, J. L. et al. | 2002
- 92
-
Autopsy on a Case of Roberts Syndrome Reported in 1672: The Earliest Description?Bates, A. W. et al. | 2003
- 97
-
Fetology: Diagnosis and Management of the Fetal PatientOpitz, J. M. et al. | 2003
- 97
-
Brief Research Communication: Absence of MeCP2 Mutations in Patients From The South Carolina Autism ProjectLobo-Menendez, F. / Sossey-Alaoui, K. / Bell, J. M. / Copeland-Yates, S. A. / Plank, S. M. / Sanford, S. O. / Skinner, C. / Simensen, R. J. / Schroer, R. J. / Michaelis, R. C. et al. | 2002
- 98
-
Overgrowth Syndromes. Oxford Monographs on Medical Genetics No. 43Opitz, J. M. et al. | 2003
- 102
-
Heritability of Attention Problems in Children: I. Cross-Sectional Results From a Study of Twins, Age 3-12 YearsRietveld, M. J. H. / Hudziak, J. J. / Bartels, M. / van Beijsterveldt, C. E. M. / Boomsma, D. I. et al. | 2002
- 114
-
Association of the 3' UTR Transcription Factor LBP-1c/CP2/LSF Polymorphism With Late-Onset Alzheimer's DiseaseLuedecking-Zimmer, E. / DeKosky, S. T. / Nebes, R. / Kamboh, M. I. et al. | 2002