Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome-Reference-Cited by-同舟云学术

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Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

Published:2005-10-21 Issue:1 Volume:21 Page:32-35
ISSN:0931-041X
Container-title:Pediatric Nephrology
language:en
Short-container-title:Pediatr Nephrol

Author:

Utsch Boris,Sayer John A.,Attanasio Massimo,Pereira Rob Rodrigues,Eccles Michael,Hennies Hans-Christian,Otto Edgar A.,Hildebrandt Friedhelm

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00467-005-2054-y.pdf

Reference19 articles.

1. Joubert M, Eisenring JJ, Robb JP, Andermann F (1969) Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 19:813–825

2. Boltshauser E (2002) Joubert syndrome: more than lower cerebellar vermis hypoplasia, less than a complex brain malformation. Am J Med Genet 109:332

3. Saraiva JM, Baraitser M (1992) Joubert syndrome: a review. Am J Med Genet 43:726–731

4. Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, Graham JM Jr, Maria BL, Barkovich AJ, Dobyns WB (2004) Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet 125A:125–134; discussion 117

5. Maria BL, Hoang KB, Tusa RJ, Mancuso AA, Hamed LM, Quisling RG, Hove MT, Fennell EB, Booth-Jones M, Ringdahl DM, Yachnis AT, Creel G, Frerking B (1997) “Joubert syndrome” revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 12:423–430

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1. Cystic Diseases of the Kidney;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2023

2. A single heterozygous nonsense mutation in the TTC21B gene causes adult‐onset nephronophthisis 12: A case report and review of literature;Molecular Genetics & Genomic Medicine;2022-10-20

3. Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology;International Journal of Molecular Sciences;2022-08-26

4. Homozygous AHI1 gene mutation (c.1213A>C; Thr405Pro) leads to Joubert syndrome in a consanguineous Iranian family: A case report;Neurology Asia;2022-06

5. Genotype–phenotype correlates in Joubert syndrome: A review;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-03

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