Group: G4ID - with tag jouberts-syndrome [12 articles] Export

Recent papers posted by members of the G4ID group with tag jouberts-syndrome

	Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. [My Copy] Hum Mutat (17 August 2007) by Valeska Frank, Anneke I I. den Hollander, Nadina Ortiz O. Brüchle, et al.Marijke N N. Zonneveld, Gudrun Nürnberg, Christian Becker, Gabriele Du D. Bois, Heide Kendziorra, Susanne Roosing, Jan Senderek, Peter Nürnberg, Frans P M P. Cremers, Klaus Zerres, Carsten Bergmann posted to mir jouberts-syndrome cep290 by dchughes to the group G4ID on 2007-09-04 13:39:07 as along with 1 group Genetics-of-Gambling
	Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome [My Copy] American Journal of Medical Genetics Part A, Vol. 143A, No. 15. (2007), pp. 1715-1725. by Kym M. Boycott, Jillian S. Parboosingh, James N. Scott, et al.Ross D. Mcleod, Cheryl R. Greenberg, Mary T. Fujiwara, Jean K. Mah, Julian Midgley, Andrew Wade, Francois P. Bernier, Bernard N. Chodirker, Martin Bunge, Micheil A. Innes posted to jouberts-syndrome by dchughes to the group G4ID on 2007-07-25 16:11:41 as along with 1 group Genetics-of-Gambling
	Joubert syndrome (and related disorders) (OMIM 213300) [My Copy] European Journal of Human Genetics, Vol. aop, No. current. by Melissa A. Parisi, Dan Doherty, Phillip F. Chance, Ian A. Glass posted to mir jouberts-syndrome by dchughes to the group G4ID on 2007-04-26 14:59:01 as along with 1 person and 1 group N0131826 Genetics-of-Gambling
	AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia [My Copy] European Journal of Human Genetics, Vol. aop, No. current. by Daniela Amann-Zalcenstein, Nili Avidan, Kyra Kanyas, et al.Richard P. Ebstein, Yoav Kohn, Adnan Hamdan, Edna Ben-Asher, Osnat Karni, Muhammed Mujaheed, Ronnen H. Segman, Wolfgang Maier, Fabio Macciardi, Jacques S. Beckmann, Doron Lancet, Bernard Lerer, posted to mir jouberts-syndrome ahi1 by dchughes to the group G4ID on 2007-04-11 16:46:15 as along with 2 people and 1 group n0122897 N0131826 Genetics-of-Gambling
	AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. [My Copy] Ann Neurol, Vol. 59, No. 3. (March 2006), pp. 527-534. by E. M. Valente, F. Brancati, J. L. Silhavy, et al.M. Castori, S. E. Marsh, G. Barrano, E. Bertini, E. Boltshauser, M. S. Zaki, A. Abdel-Aleem, G. M. Abdel-Salam, E. Bellacchio, R. Battini, R. P. Cruse, W. B. Dobyns, K. S. Krishnamoorthy, C. Lagier-Tourenne, A. Magee, I. Pascual-Castroviejo, C. D. Salpietro, D. Sarco, B. Dallapiccola, J. G. Gleeson, posted to ahi1 jouberts-syndrome mir by dchughes to the group G4ID on 2006-12-13 10:43:13 as along with 1 person and 1 group N0131826 Genetics-of-Gambling
	AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. [My Copy] J Med Genet, Vol. 43, No. 4. (April 2006), pp. 334-339. by M. A. Parisi, D. Doherty, M. L. Eckert, et al.D. W. Shaw, H. Ozyurek, S. Aysun, O. Giray, A. Al Swaid, S. Al Shahwan, N. Dohayan, E. Bakhsh, O. S. Indridason, W. B. Dobyns, C. L. Bennett, P. F. Chance, I. A. Glass posted to ahi1 jouberts-syndrome mir by dchughes to the group G4ID on 2006-12-13 10:32:24 as along with 1 group Genetics-of-Gambling
	Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. [My Copy] Pediatr Nephrol, Vol. 21, No. 1. (January 2006), pp. 32-35. by B. Utsch, J. A. Sayer, M. Attanasio, et al.R. R. Pereira, M. Eccles, H. C. Hennies, E. A. Otto, F. Hildebrandt posted to ahi1 jouberts-syndrome mir by dchughes to the group G4ID on 2006-12-13 10:29:44 as along with 1 group Genetics-of-Gambling
	Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome [My Copy] J Med Genet, Vol. 42 (2005), pp. 299-306. by Kleefstra posted to 9q43 ehmt1 jouberts-syndrome by dchughes to the group G4ID on 2006-11-29 10:48:48 as along with 1 group Genetics-of-Gambling
	Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. [My Copy] Am J Hum Genet, Vol. 79, No. 2. (August 2006), pp. 370-377. by T. Kleefstra, H. G. Brunner, J. Amiel, et al.A. R. Oudakker, W. M. Nillesen, A. Magee, D. Geneviève, V. Cormier-Daire, H. van Esch, J. P. Fryns, B. C. Hamel, E. A. Sistermans, B. B. de Vries, H. van Bokhoven posted to 9q43 ehmt1 jouberts-syndrome mir by dchughes to the group G4ID on 2006-11-29 10:38:44 as along with 1 group Genetics-of-Gambling
	Distinguishing the four genetic causes of Jouberts syndrome-related disorders. [My Copy] Ann Neurol, Vol. 57, No. 4. (April 2005), pp. 513-519. by E. M. Valente, S. E. Marsh, M. Castori, et al.T. Dixon-Salazar, E. Bertini, L. Al-Gazali, J. Messer, C. Barbot, C. G. Woods, E. Boltshauser, A. A. Al-Tawari, C. D. Salpietro, H. Kayserili, L. Sztriha, M. Gribaa, M. Koenig, B. Dallapiccola, J. G. Gleeson posted to cors jouberts-syndrome by dchughes to the group G4ID on 2006-11-29 10:37:30 as along with 1 group Genetics-of-Gambling
	Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. [My Copy] Am J Hum Genet, Vol. 65, No. 6. (December 1999), pp. 1666-1671. by K. Saar, L. Al-Gazali, L. Sztriha, et al.F. Rueschendorf, M. Nur-E-Kamal, A. Reis, R. Bayoumi posted to jouberts-syndrome by dchughes to the group G4ID on 2006-11-29 10:30:59 as along with 1 group Genetics-of-Gambling
	Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. [My Copy] Am J Hum Genet, Vol. 73, No. 3. (September 2003), pp. 663-670. by E. M. Valente, D. C. Salpietro, F. Brancati, et al.E. Bertini, T. Galluccio, G. Tortorella, S. Briuglia, B. Dallapiccola posted to cors jouberts-syndrome by dchughes to the group G4ID on 2006-11-29 10:20:03 as along with 1 group Genetics-of-Gambling

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