Ritscher-Schinzel (3C) Syndrome: Documentation of the Phenotype (English)
- New search for: Kosaki, K.
- New search for: Curry, C. J.
- New search for: Roeder, E.
- New search for: Lyons Jones, K.
- New search for: Kosaki, K.
- New search for: Curry, C. J.
- New search for: Roeder, E.
- New search for: Lyons Jones, K.
In:
AMERICAN JOURNAL OF MEDICAL GENETICS
;
68
, 4
;
421-427
;
1997
-
ISSN:
- Article (Journal) / Print
-
Title:Ritscher-Schinzel (3C) Syndrome: Documentation of the Phenotype
-
Contributors:Kosaki, K. ( author ) / Curry, C. J. ( author ) / Roeder, E. ( author ) / Lyons Jones, K. ( author )
-
Published in:AMERICAN JOURNAL OF MEDICAL GENETICS ; 68, 4 ; 421-427
-
Publisher:
- New search for: JOHN WILEY & SONS LTD
-
Publication date:1997-01-01
-
Size:7 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 68, Issue 4
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.
- 381
-
Are Blastogenetic Anomalies Sporadic?Martinez-Frias, M. L. / Frias, J. L. et al. | 1997
- 386
-
Brain Anomalies, Retardation of Mentality and Growth, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear Deformity and Deafness, Eye Hypoplasia, Cleft Palate, Cryptorchidism, and Kidney Dysplasia/Hypoplasia (BRESEK/BRESHECK): New X-Linked Syndrome?Reish, O. / Gorlin, R. J. / Hordinsky, M. / Rest, E. B. / Burke, B. / Berry, S. A. et al. | 1997
- 391
-
Tricho-Hepato-Enteric Syndrome: Further Delineation of a Distinct Syndrome With Neonatal Hemochromatosis Phenotype, Intractable Diarrhea, and Hair AnomaliesVerloes, A. / Lombet, J. / Lambert, Y. / Hubert, A.-F. / Deprez, M. / Fridman, V. / Gosseye, S. / Rigo, J. / Sokal, E. et al. | 1997
- 396
-
Multiple Epiphyseal Dysplasia, Ribbing Type: A Novel Point Mutation in the COMP Gene in a South African FamilyBallo, R. / Briggs, M. D. / Cohn, D. H. / Knowlton, R. G. / Beighton, P. H. / Ramesar, R. S. et al. | 1997
- 401
-
Autosomal Recessive Lateralization and Midline Defects: Blastogenesis Recessive 1Debrus, S. / Sauer, U. / Gilgenkrantz, S. / Jost, W. / Jesberger, H.-J. / Bouvagnet, P. et al. | 1997
- 405
-
Blastogenesis Dominant 1: A Sequence With Midline Anomalies and HeterotaxyDe Meeus, A. / Sarda, P. / Tenconi, R. / Ferrire, M. / Bouvagnet, P. et al. | 1997
- 409
-
Paracentric Inversion Involving the Long Arm of Chromosome 9 Resulting in Deletion of abl GeneKleyman, S. M. / Parekh, A. J. / Rodriguez, A. R. / Conte, R. A. / Verma, R. S. et al. | 1997
- 412
-
Dominance and HomozygosityZlotogora, J. et al. | 1997
- 417
-
A Complex Chromosome Rearrangement With At Least Five Breakpoints Studied by Fluorescence In Situ HybridizationGibson, L. H. / McGrath, J. / Yang-Feng, T. L. et al. | 1997
- 421
-
Ritscher-Schinzel (3C) Syndrome: Documentation of the PhenotypeKosaki, K. / Curry, C. J. / Roeder, E. / Lyons Jones, K. et al. | 1997
- 428
-
Delineation of a Duplication Map of Chromosome 3q: A New Case Confirms the Exclusion of 3q25-q26.2 From the Duplication 3q Syndrome Critical RegionRizzu, P. / Haddad, B. R. / Vallcorba, I. / Alonso, A. / Ferro, M. T. / Garcia-Sagredo, J. M. / Baldini, A. et al. | 1997
- 433
-
Comparison of Phenotype Between Patients With Prader-Willi Syndrome Due to Deletion 15q and Uniparental Disomy 15Cassidy, S. B. / Forsythe, M. / Heeger, S. / Nicholls, R. D. / Schork, N. / Benn, P. / Schwartz, S. et al. | 1997
- 441
-
Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome: A New Case and Further Evidence of Autosomal Recessive InheritanceGripp, K. W. / Donnai, D. / Clericuzio, C. L. / McDonald-Mcginn, D. M. / Guttenberg, M. / Zackai, E. H. et al. | 1997
- 445
-
Transmission Electron Microscopy of Chromosomes by Longitudinal Section Preparation: Application to Fragile X Chromosome AnalysisWen, G. Y. / Jenkins, E. C. / Yao, X.-L. / Yoon, D. / Brown, W. T. / Wisniewski, H. M. et al. | 1997
- 450
-
Mild "Duplication 6q Syndrome": A Case With Partial Trisomy (6)(q23.3q25.3)Henegariu, O. / Heerema, N. A. / Vance, G. H. et al. | 1997
- 455
-
Microcephaly, Muscular Build, Rhizomelia, and Cataracts: Description of a Possible Recessive Syndrome and Some Comments on the Use of Electronic Databases in SyndromologyVerloes, A. / Lesenfants, S. / Misson, J.-P. / Galand, A. / Koulischer, L. et al. | 1997
- 461
-
Microcephaly, Muscular Build, Rhizomelia, and Cataracts: A Possible Recessive SyndromeWinter, R. et al. | 1997
- 462
-
The Neuroimaging Findings in Sotos SyndromeSchaefer, G. B. / Bodensteiner, J. B. / Buehler, B. A. / Lin, A. / Cole, T. R. P. et al. | 1997
- 466
-
Pattern of Malformations in the Axial Skeleton in Human Trisomy 21 FetusesKeeling, J. W. / Fischer Hansen, B. / Kjaer, I. et al. | 1997
- 472
-
Genetic Disorders Among Palestinian Arabs: 1. Effects of ConsanguinityZlotogora, J. et al. | 1997
- 476
-
Proximal Partial 5p Trisomy Resulting From a Maternal (19;5) InsertionLorda-Sanchez, I. / Urioste, M. / Villa, A. / Cabrascosa, M. D. C. / Vazquez, M. S. / Martinez, A. / Martinez-Frias, M. L. et al. | 1997
- 481
-
Tetrasomy 5p Mosaicism Due to an Extra i(5p) in a Severely Affected GirlLorda-Sanchez, I. / Villa, A. / Urioste, M. / Bernal, E. / Jaso, E. / Garcia, A. / Martinez-Frias, M. L. et al. | 1997
- 485
-
Problem of Offering Unsolicited Clinical Genetic Advice and Diagnoses to Nonmedical Friends and StrangersHook, E. B. et al. | 1997
- 486
-
Problem of Offering Unsolicited Clinical Genetic Advice and Diagnoses to Nonmedical Friends and Strangers: ResponseMarion, R. W. et al. | 1997
- 487
-
Photographic Documentation of Syndrome DiagnosisAllanson, J. / Hunter, A. / Cassidy, S. / Curry, C. / Donnai, D. / Fraser, C. / Gorlin, R. / Graham, J. / Hall, B. / Hall, J. et al. | 1997
- 488
-
Photographic Documentation of Syndrome Diagnosis: ReplyOpitz, J. M. et al. | 1997
- 489
-
Inherited Disorders of the Thyroid SystemPetty, E. M. et al. | 1997
- 490
-
Medical GeneticsPetty, E. M. et al. | 1997
- 492
-
Cellular Cancer MarkersPetty, E. M. et al. | 1997
- 494
-
Rapid Publication: Association of a Polymorphic Variant of the Werner Helicase Gene With Myocardial Infarction in a Japanese PopulationYe, L. / Miki, T. / Nakura, J. / Oshima, J. / Kamino, K. / Rakugi, H. / Ikegami, H. / Higaki, J. / Edland, S. D. / Martin, G. M. et al. | 1997