Fetal magnetic resonance imaging demonstration of central nervous system abnormalities and polydactyly associated with Joubert syndrome.

[1]  M. Zaki,et al.  Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders , 2010, American Journal of Neuroradiology.

[2]  M. Parisi.  Clinical and molecular features of Joubert syndrome and related disorders , 2009, American journal of medical genetics. Part C, Seminars in medical genetics.

[3]  Kate Baker,et al.  Making sense of cilia in disease: The human ciliopathies , 2009, American journal of medical genetics. Part C, Seminars in medical genetics.

[4]  J. Badano,et al.  Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies , 2009, American journal of medical genetics. Part C, Seminars in medical genetics.

[5]  J. Veltman,et al.  OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. , 2009, American journal of human genetics.

[6]  K. Gungorduk,et al.  Prenatal ultrasonographic features of Joubert syndrome , 2008, Journal of clinical ultrasound : JCU.

[7]  Chih-ping Chen.  Syndromes, disorders and maternal risk factors associated with neural tube defects (IV). , 2008, Taiwanese journal of obstetrics & gynecology.

[8]  M. Adams,et al.  Recent advances in the molecular pathology, cell biology and genetics of ciliopathies , 2008, Journal of Medical Genetics.

[9]  Chih-ping Chen.  Syndromes, disorders and maternal risk factors associated with neural tube defects (III). , 2008, Taiwanese journal of obstetrics & gynecology.

[10]  Chih-ping Chen.  Meckel syndrome: genetics, perinatal findings, and differential diagnosis. , 2007, Taiwanese journal of obstetrics & gynecology.

[11]  D. Chitayat,et al.  Molar Tooth Sign in Fetal Brain Magnetic Resonance Imaging Leading to the Prenatal Diagnosis of Joubert Syndrome and Related Disorders , 2006, Journal of child neurology.

[12]  I. Glass,et al.  Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI , 2005, Prenatal diagnosis.

[13]  A. Gul,et al.  Prenatal diagnosis of Joubert syndrome: a case report , 2002, Prenatal diagnosis.

[14]  F. Chang,et al.  Prenatal diagnosis of Joubert syndrome complicated with encephalocele using two-dimensional and three-dimensional ultrasound. , 1999, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[15]  M. Koenig,et al.  Clinical Nosologic and Genetic Aspects of Joubert and Related Syndromes , 1999, Journal of child neurology.

[16]  B. Maria,et al.  Clinical Features and Revised Diagnostic Criteria in Joubert Syndrome , 1999, Journal of child neurology.

[17]  B. Maria,et al.  Molar Tooth Sign in Joubert Syndrome: Clinical, Radiologic, and Pathologic Significance , 1999, Journal of child neurology.

[18]  Jeffrey S. Anderson,et al.  Joubert's syndrome and prenatal hydrocephalus. , 1999, Pediatric neurology.

[19]  P. Crowley,et al.  Abnormal prenatal sonographic findings in the posterior cranial fossa: a case of Joubert's syndrome , 1999, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[20]  R. Snijders,et al.  Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10–14 weeks of gestation , 1998, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[21]  R. Tusa,et al.  "Joubert Syndrome" Revisited: Key Ocular Motor Signs With Magnetic Resonance Imaging Correlation , 1997, Journal of child neurology.

[22]  B. Benacerraf,et al.  First trimester isolated fetal nuchal lucency: significance and outcome , 1997, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

[23]  H. Geijn,et al.  First-trimester sonographic detection of neurodevelopmental abnormalities in some single-gene disorders , 1996 .

[24]  O. Ljungberg,et al.  Joubert syndrome associated with Leber amaurosis and multicystic kidneys. , 1993, American journal of medical genetics.

[25]  M. Baraitser,et al.  Joubert syndrome: a review. , 1992, American journal of medical genetics.

[26]  P. Barth,et al.  Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship. , 1991, American journal of medical genetics.

[27]  J. Pearce,et al.  The prenatal diagnosis of joubert's syndrome of familial agenesis of the cerebellar vermis , 1984, Prenatal diagnosis.