The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.
Joubert syndrome: A review
Abstract
We review 72 previously reported and 29 new patients with the possible diagnosis of Joubert syndrome. We define diagnostic criteria for this syndrome and present the data available in 94 patients that fulfill our criteria. We present the data regarding the clinical, neuroradiological, and ophthalmological manifestations and the prognosis of these 94 patients. We propose a classification of the patients with this diagnosis in 2 groups: those with retinal dystrophy and those without. Retinal dystrophy runs true in families and was never absent when renal cysts were reported. © 1992 Wiley‐Liss, Inc.
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Cites
Joubert, M., Eisenring, J.-J., Preston, J., & Andermann, F. (1969) · Neurology · doi:10.1212/wnl.19.9.813 · Cited by 650
Holder, S. E. (1991) · Archives of Disease in Childhood · doi:10.1136/adc.66.8.1005 · Cited by 424
Principles and Practice of Medical Genetics.
(1991) · Annals of Internal Medicine · doi:10.7326/0003-4819-114-9-817_2 · Cited by 290
Uncommon Syndromes of Cerebellar Vermis Aplasia. I: Joubert Syndrome
Friede, R. L., & Boltshauser, E. (1978) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1978.tb15307.x · Cited by 148
Joubert syndrome: a clinico-radiological study
Kendall, B. E., Kingsley, D. P. E., Lambert, S. R., Taylor, D., & Finn, P. (1990) · Neuroradiology · doi:10.1007/bf00340131 · Cited by 109
Follow-up and Diagnostic Reappraisal of 75 Patients with Leber's Congenital Amaurosis
Lambert, S. R., Kriss, A., Taylor, D. S. I., Coffey, R., & Pembrey, M. E. (1989) · American Journal of Ophthalmology · doi:10.1016/0002-9394(89)90259-6 · Cited by 102
Lambert, S. R. (1989) · Archives of Ophthalmology · doi:10.1001/archopht.1989.01070010727035 · Cited by 97
Váradi, V., Szabó, L., & Papp, Z. (1980) · Journal of Medical Genetics · doi:10.1136/jmg.17.2.119 · Cited by 92
Smith‐Lemli‐Opitz Syndrome: Neuropathological and Ophthalmological Observations
Fierro, M. F., Martinez, A. J., Harbison, J. W., & Hay, S. H. (1977) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1977.tb08021.x · Cited by 50
Casamassima, A. C., Mamunes, P., Gladstone, I. M., Solomon, S., Moncure, C. W., Opitz, J. M., & Reynolds, J. F. (1987) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320260211 · Cited by 40
Cited by
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
Ferland, R. J., Eyaid, W., Collura, R. V., Tully, L. D., Hill, R. S., Al-Nouri, D., Al-Rumayyan, A., Topcu, M., Gascon, G., Bodell, A., et al. (2004) · Nature Genetics · doi:10.1038/ng1419 · Cited by 408
Nephronophthisis-Associated Ciliopathies
Hildebrandt, F., & Zhou, W. (2007) · Journal of the American Society of Nephrology · doi:10.1681/asn.2006121344 · Cited by 406
Metadata
- Authors
- Saraiva, J. M., & Baraitser, M.
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1992-07
- Volume
- 43
- Issue
- 4
- Pages
- 726-731
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W2064485297
- Cited by
- 300
- References
- 11
- FWCI
- 2.96
- 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.
