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Vivere con la sindrome di Joubert
  Articoli scientifici
 

 

Pubblicazioni scientifiche selezionate

 

2007  

  • Valente EM, Brancati F, Dallapiccola B. Genotypes and phenotypes of Joubert Syndrome and Related Disorders. Eur J Med Genet 2007; 51(1): 1-23.

  • Wolf MT, Saunier S, O'Toole JF, Wanner N, Groshong T, Attanasio M, Salomon R, Stallmach T, Sayer JA, Waldherr R, Griebel M, Oh J, Neuhaus TJ, Josefiak U, Antignac C, Otto EA, Hildebrandt F. Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis. Kidney Int 2007; 72(12): 1520-1526.

  • Harris PC. Genetic complexity in Joubert syndrome and related disorders. Kidney Int 2007; 72(12): 1421-1423.

  • Poretti A, Boltshauser E, Loenneker T, Valente EM, Brancati F, Il'yasov K, Huisman TA. Diffusion tensor imaging in Joubert syndrome. AJNR Am J Neuroradiol 2007; 28(10): 1929-33. 

  • Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Marker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet. 2007; 39 (7): 882-888.

  • Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B, Valente EM, Gleeson JG. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet. 2007; 81 (1): 104-113.

  • Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Bertheleme JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Ruther U, Schneider-Maunoury S, ttie-Bitach T, Saunier S. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 2007; 39 (7): 875-881.

  • Gunzler SA, Stoessl AJ, Egan RA, Weleber RG, Wang P, Nutt JG. Joubert syndrome surviving to adulthood associated with a progressive movement disorder. Mov Disord. 2007; 22 (2): 262-265.

  • Helou J, Otto EA, Attanasio M, Allen SJ, Parisi M, Glass I, Utsch B, Hashmi S, Fazzi E, Omran H, O' TJ, Sayer J, Hildebrandt F. Mutation analysis of NPHP6/CEP290 in patients with Joubert-Syndrome and Senior-Loken-Syndrome. J Med Genet. 2007;

  • Tory K, Lacoste T, Burglen L, Moriniere V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S. High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. J Am Soc Nephrol. 2007; 18 (5): 1566-1575.

 

2006

  • Farmer JE, Deidrick KM, Gitten JC, Fennell EB, Maria BL. Parenting stress and its relationship to the behavior of children with Joubert syndrome. J Child Neurol. 2006; 21 (2): 163-167.

  • Fluss J, Blaser S, Chitayat D, Akoury H, Glanc P, Skidmore M, Raybaud C. Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders. J Child Neurol. 2006; 21 (4): 320-324.

  • Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, Giray O, Al SA, Al SS, Dohayan N, Bakhsh E, Indridason OS, Dobyns WB, Bennett CL, Chance PF, Glass IA. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J Med Genet. 2006; 43 (4): 334-339.

  • Platis CM, Kachko L, Trabikin E, Simhi E, Bahar M, Katz J. Postoperative respiratory complications in Joubert syndrome. Paediatr Anaesth. 2006; 16 (7): 799-800.

  • Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet. 2006; 38 (6): 674-681.

  • Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, Otto EA, Hildebrandt F. Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatr Nephrol. 2006; 21 (1): 32-35.

  • Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E, Bertini E, Dallapiccola B, Gleeson JG. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet. 2006; 38 (6): 623-625.

  • Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, bdel-Aleem A, bdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, Gleeson JG. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol. 2006; 59 (3): 527-534.

 

2005

  • Castori M, Valente EM, Donati MA, Salvi S, Fazzi E, Procopio E, Galluccio T, Emma F, Dallapiccola B, Bertini E. NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet. 2005; 42 (2): e9-

  • Doherty D, Glass IA, Siebert JR, Strouse PJ, Parisi MA, Shaw DW, Chance PF, Barr M, Jr., Nyberg D. Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI. Prenat Diagn. 2005; 25 (6): 442-447.

  • Takahashi TN, Farmer JE, Deidrick KK, Hsu BS, Miles JH, Maria BL. Joubert syndrome is not a cause of classical autism. Am J Med Genet A. 2005; 132 (4): 347-351.

  • Valente EM, Marsh SE, Castori M, xon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, Koenig M, Dallapiccola B, Gleeson JG. Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol. 2005; 57 (4): 513-519.

 

2004

  • Dixon-Salazar T, Silhavy JL, Marsh SE, Louie CM, Scott LC, Gururaj A, Al-Gazali L, Al-Tawari AA, Kayserili H, Sztriha L, Gleeson JG. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet. 2004; 75 (6): 979-987.

  • Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, Al-Rumayyan A, Topcu M, Gascon G, Bodell A, Shugart YY, Ruvolo M, Walsh CA. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet. 2004; 36 (9): 1008-1013.

  • Foubister V. Prenatal diagnosis for Joubert syndrome? Drug Discov Today. 2004; 9 (24): 1036-1037.

  • Hodgkins PR, Harris CM, Shawkat FS, Thompson DA, Chong K, Timms C, Russell-Eggitt I, Taylor DS, Kriss A. Joubert syndrome: long-term follow-up. Dev Med Child Neurol. 2004; 46 (10): 694-699.

  • Kumandas S, Akcakus M, Coskun A, Gumus H. Joubert syndrome: review and report of seven new cases. Eur J Neurol. 2004; 11 (8): 505-510.

  • Vodopich DJ and Gordon GJ. Anesthetic management in Joubert syndrome. Paediatr Anaesth. 2004; 14 (10): 871-873.

 

2003

  • Keeler LC, Marsh SE, Leeflang EP, Woods CG, Sztriha L, Al-Gazali L, Gururaj A, Gleeson JG. Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. Am J Hum Genet. 2003; 73 (3): 656-662.

 

2002

  • Aslan H, Ulker V, Gulcan EM, Numanoglu C, Gul A, Agar M, Ark HC. Prenatal diagnosis of Joubert syndrome: a case report. Prenat Diagn. 2002; 22 (1): 13-16.

  • Boltshauser E. Joubert syndrome: more than lower cerebellar vermis hypoplasia, less than a complex brain malformation. Am J Med Genet. 2002; 109 (4): 332

 

  • precedenti al 2000

  • Cantani A, Genovese S, Tacconi ML, Benincori N, Picarazzi A, Bamonte G. Rare syndromes. II. Joubert syndrome: a review of the 43 cases published in the literature. Riv Eur Sci Med Farmacol. 1987; 9 (1): 19-22.

  • Cantani A, Lucenti P, Ronzani GA, Santoro C. Joubert syndrome. Review of the fifty-three cases so far published. Ann Genet. 1990; 33 (2): 96-98.

  • Casaer P, Vles JS, Devlieger H, Eggermont E, Boel M, Dom R. Variability of outcome in Joubert syndrome. Neuropediatrics. 1985; 16 (1): 43-45.

  • Deonna T and Ziegler AL. Cognitive development and behavior in Joubert syndrome. Biol Psychiatry. 1993; 33 (11-12): 854-855.

  • Edwards BO, Jr., Fischer AQ, Flannery DB. Joubert syndrome: early diagnosis by recognition of the behavioral phenotype and confirmation by cranial sonography. J Child Neurol. 1988; 3 (4): 247-249.

  • Fennell EB, Gitten JC, Dede DE, Maria BL. Cognition, behavior, and development in Joubert syndrome. J Child Neurol. 1999; 14 (9): 592-596.

  • Habre W, Sims C, D'Souza M. Anaesthetic management of children with Joubert syndrome. Paediatr Anaesth. 1997; 7 (3): 251-253.

  • Holroyd S, Reiss AL, Bryan RN. Autistic features in Joubert syndrome: a genetic disorder with agenesis of the cerebellar vermis. Biol Psychiatry. 1991; 29 (3): 287-294.

  • Joubert M, Eisenring JJ, Andermann F. Familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation. Neurology. 1968; 18 (3): 302-303.

  • Luescher JL, Dede DE, Gitten JC, Fennell E, Maria BL. Parental burden, coping, and family functioning in primary caregivers of children with Joubert syndrome. J Child Neurol. 1999; 14 (10): 642-648.

  • 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. "Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol. 1997; 12 (7): 423-430.

  • Maria BL. A better understanding of Joubert syndrome. J Child Neurol. 1999; 14 (9): 553.

  • Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, Fennell E. Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance. J Child Neurol. 1999; 14 (6): 368-376.

  • Maria BL, Boltshauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol. 1999; 14 (9): 583-590.

  • Ozonoff S, Williams BJ, Gale S, Miller JN. Autism and autistic behavior in Joubert syndrome. J Child Neurol. 1999; 14 (10): 636-641.

  • Saar K, Al-Gazali L, Sztriha L, Rueschendorf F, Nur-E-Kamal, Reis A, Bayoumi R. Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. Am J Hum Genet. 1999; 65 (6): 1666-1671.

  • Saraiva JM and Baraitser M. Joubert syndrome: a review. Am J Med Genet. 1992; 43 (4): 726-731.

  • Satran D, Pierpont ME, Dobyns WB. Cerebello-oculo-renal syndromes including Arima, Senior-Loken and COACH syndromes: more than just variants of Joubert syndrome. Am J Med Genet. 1999; 86 (5): 459-469.

  • Spinella GM. Research directions: follow-up of the Joubert Syndrome Workshop, October 21, 1998. J Child Neurol. 1999; 14 (10): 667-668.

  • Steinlin M, Schmid M, Landau K, Boltshauser E. Follow-up in children with Joubert syndrome. Neuropediatrics. 1997; 28 (4): 204-211.

  • Wang P, Chang FM, Chang CH, Yu CH, Jung YC, Huang CC. Prenatal diagnosis of Joubert syndrome complicated with encephalocele using two-dimensional and three-dimensional ultrasound. Ultrasound Obstet Gynecol. 1999; 14 (5): 360-362.

  • Ziegler AL, Deonna T, Calame A. Hidden intelligence of a multiply handicapped child with Joubert syndrome. Dev Med Child Neurol. 1990; 32 (3): 261-266.