The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.
The Ullrich-Noonan Syndrome (Turner Phenotype)
Abstract
Recent genetic, cytogenetic, and clinical findings of the Ullrich-Noonan syndrome have been reviewed in the context of a personal series of 81 patients, the majority of whom were found in 23 families. Direct transmission of all familial cases strongly supports the proposed autosomal dominant mode of inheritance. Cytogenetic evaluation, including utilization of Q and G banding techniques, has failed to disclose a chromosomal anomaly. Diagnostic criteria, frequency of anomalies, and disabilities are presented together with cardiovascular abnormalities and recurrence risks.
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Citations
Cites
A SEX-CHROMOSOME ANOMALY IN A CASE OF GONADAL DYSGENESIS (TURNER'S SYNDROME)
FORD, C. (1959) · The Lancet · doi:10.1016/s0140-6736(59)91893-8 · Cited by 1,354
A SYNDROME OF INFANTILISM, CONGENITAL WEBBED NECK, AND CUBITUS VALGUS1
TURNER, H. H. (1938) · Endocrinology · doi:10.1210/endo-23-5-566 · Cited by 1,127
BARR, M. L., & BERTRAM, E. G. (1949) · Nature · doi:10.1038/163676a0 · Cited by 1,030
Hypertelorism With Turner Phenotype: A New Syndrome With Associated Congenital Heart Disease
Noonan, J. A. (1968) · American Journal of Diseases of Children · doi:10.1001/archpedi.1968.02100020377005 · Cited by 549
Associated noncardiac malformations in children with congenital heart disease
Noonan, J. A. (1963) · Jornal de Pediatria · Cited by 383
Gorlin, R. J. (1969) · American Journal of Diseases of Children · doi:10.1001/archpedi.1969.02100030654006 · Cited by 323
Über typische Kombinationsbilder multipler Abartungen
Ullrich, O. (1930) · Zeitschrift für Kinderheilkunde · doi:10.1007/bf02248090 · Cited by 240
The XO syndrome: A study of the differentiated phenotype in 25 patients
Lemli, L., & Smith, D. W. (1963) · The Journal of Pediatrics · doi:10.1016/s0022-3476(63)80368-6 · Cited by 183
Ullrich, O. (1949) · PubMed · Cited by 84
Nora, J. J., Torres, F. G., Sinha, A. K., et al. (1970) · The American Journal of Cardiology · doi:10.1016/0002-9149(70)90612-0 · Cited by 82
Self-citation
Cited by
Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. L., van der Burgt, I., Brunner, H. G., Bertola, D. R., Crosby, A., Ion, A., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/340847 · Cited by 802
Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines
Romano, A. A., Allanson, J. E., Dahlgren, J., Gelb, B. D., Hall, B., Pierpont, M. E., Roberts, A. E., Robinson, W., Takemoto, C. M., & Noonan, J. A. (2010) · Pediatrics · doi:10.1542/peds.2009-3207 · Cited by 628
Mendez, H. M. M., Opitz, J. M., & Reynolds, J. F. (1985) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320210312 · Cited by 477
Noonan syndrome and clinically related disorders
Tartaglia, M., Gelb, B. D., & Zenker, M. (2011) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2010.09.002 · Cited by 414
Allanson, J. E. (1987) · Journal of Medical Genetics · doi:10.1136/jmg.24.1.9 · Cited by 319
Metadata
- Authors
- Nora, J. J.
- Venue
- Archives of Pediatrics & Adolescent Medicine
- Publisher
- American Medical Association (AMA)
- Published
- 1974-01-01
- Volume
- 127
- Issue
- 1
- Pages
- 48
- ISSN
- 1072-4710 (ISSN-L)
- OpenAlex
- W2023663427
- Cited by
- 301
- References
- 11
- FWCI
- 3.19
- Type
- journal article
- Language
- en
- Open access
- closed
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
