History of Joubert syndrome and a 30-year follow-up of the original proband.

Andermann F, Andermann E, Ptito A, Fontaine S, Joubert M

J Child Neurol, (9):565-569 1999

MED: 10488900

Late onset of renal disease in nephronophthisis with features of Joubert syndrome type B.

Apostolou T, Nikolopoulou N, Theodoridis M, Koumoustiotis V, Pavlopoulou E, Chondros D, Billis A

Nephrol Dial Transplant, (12):2412-2415 2001

MED: 11733635

Revised classification of posterior fossa cysts and cystlike malformations based on the results of multiplanar MR imaging.

Barkovich AJ, Kjos BO, Norman D, Edwards MS

AJR Am J Roentgenol, (6):1289-1300 1989

MED: 2816648

Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis.

Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, Hildebrandt F

J Pediatr, (6):828-831 2000

MED: 10839884

Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1.

Blair IP, Gibson RR, Bennett CL, Chance PF

Am J Med Genet, (3):190-196 2002

MED: 11807898

Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis.

Boltshauser E, Isler W

Neuropadiatrie, (1):57-66 1977

MED: 576733

A new syndrome with features of the Smith-Lemli-Opitz and Meckel-Gruber syndromes in a sibship with cerebellar defects.

Casamassima AC, Mamunes P, Gladstone IM Jr, Solomon S, Moncure C

Am J Med Genet, (2):321-336 1987

MED: 3812585

Clinical nosologic and genetic aspects of Joubert and related syndromes.

Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB

J Child Neurol, (10):660-6; discussion 669-72 1999

MED: 10511339

Subtorcular occipital encephaloceles. Anatomical considerations relevant to operative management.

Chapman PH, Swearingen B, Caviness VS

J Neurosurg, (3):375-381 1989

MED: 2769389

Title not supplied

Dahlstrom

Pathology (Phila) 2000