The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
Hypertelorism With Turner Phenotype: A New Syndrome With Associated Congenital Heart Disease
Abstract
AT THE meeting of the Mid-Western Society for Pediatric Research in 1962, I reported on nine patients with remarkably similar facies with a previously unrecognized syndrome of valvular pulmonary stenosis and multiple extra cardiac anomalies.1Review of the literature at that time showed that several males resembling these patients had been reported under several different headings, most commonly under the designation of, "the male Turner syndrome."2-5There were no definite reports of similarly affected female patients. In that report I spoke in terms of a "new syndrome" in order to stress that this condition could affect not only males but also females, and that it was also clinically and etiologically different from the true Turner6syndrome. Since that time, a further eight patients, five males and three females, with valvular pulmonary stenosis and similar associated lesions have been studied. An additional two patients, one of each sex,
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Citations
Cites
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
Heart Disease in Infancy and Childhood.
(1958) · Annals of Internal Medicine · doi:10.7326/0003-4819-49-3-709_2 · Cited by 873
Diseases of the Heart and Circulation
(1957) · Postgraduate Medical Journal · doi:10.1136/pgmj.33.377.147 · Cited by 799
Associated noncardiac malformations in children with congenital heart disease
Noonan, J. A. (1963) · Jornal de Pediatria · Cited by 383
Self-citationCongenital anomalies associated with gonadal aplasia; review of 55 cases.
Haddad, M., & Wilkins, L. (1959) · PubMed · Cited by 204
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
CARDIOVASCULAR MALFORMATIONS IN TURNER'S SYNDROME
Cr, R.-P., Cunningham, R. D., Nadas, A. S., & Crigler, J. F. (1964) · PEDIATRICS · doi:10.1542/peds.33.6.919 · Cited by 73
STUDIES ON A BOY WITH XXYY CHROMOSOME CONSTITUTION
Schlegel, R. J., Aspillaga, M., Neu, R. L., & Gardner, L. I. (1965) · PEDIATRICS · doi:10.1542/peds.36.1.113 · Cited by 19
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Germline gain-of-function mutations in SOS1 cause Noonan syndrome
Roberts, A. E., Araki, T., Swanson, K. D., Montgomery, K. T., Schiripo, T. A., Joshi, V. A., Li, L., Yassin, Y., Tamburino, A. M., Neel, B. G., et al. (2007) · Nature Genetics · doi:10.1038/ng1926 · Cited by 605
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
Tartaglia, M., Pennacchio, L. A., Zhao, C., Yadav, K. K., Fodale, V., Sarkozy, A., Pandit, B., Oishi, K., Martinelli, S., Schackwitz, W., et al. (2007) · Nature Genetics · doi:10.1038/ng1939 · Cited by 586
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease
Tartaglia, M., Martinelli, S., Stella, L., Bocchinfuso, G., Flex, E., Cordeddu, V., Zampino, G., van der Burgt, I., Palleschi, A., Petrucci, T. C., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/499925 · Cited by 415
NOONAN SYNDROME AND RELATED DISORDERS: Genetics and Pathogenesis
Tartaglia, M., & Gelb, B. D. (2005) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.6.080604.162305 · Cited by 355
The Tyrosine Phosphatase Shp2 in Development and Cancer
(2010) · Advances in Cancer Research · doi:10.1016/s0065-230x(10)06002-1 · Cited by 277
Metadata
- Authors
- Noonan, J. A.
- Venue
- American Journal of Diseases of Children
- Publisher
- American Medical Association (AMA)
- Published
- 1968-10-01
- Volume
- 116
- Issue
- 4
- Pages
- 373
- ISSN
- 0002-922X (ISSN-L)
- OpenAlex
- W2008409383
- Cited by
- 549
- References
- 8
- FWCI
- 3.32
- Type
- journal article
- Language
- en
- Open access
- closed
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- Noonan, J. A. (1968). Hypertelorism With Turner Phenotype: A New Syndrome With Associated Congenital Heart Disease. American Journal of Diseases of Children. https://doi.org/10.1001/archpedi.1968.02100020377005
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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.