Joubert Syndrome and related disorders
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Enza Maria Valente | Bruno Dallapiccola | F. Brancati | E. Valente | B. Dallapiccola | Francesco Brancati
[1] K. Tory,et al. 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. , 2007, Journal of the American Society of Nephrology : JASN.
[2] H. Toma,et al. The Retinal Ciliopathies , 2007, Ophthalmic genetics.
[3] I. Glass,et al. PRACTICAL GENETICS In association with Joubert syndrome ( and related disorders , 2007 .
[4] N. Katsanis. The oligogenic properties of Bardet-Biedl syndrome. , 2004, Human molecular genetics.
[5] Seneca L. Bessling,et al. Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease , 2009, Proceedings of the National Academy of Sciences.
[6] Matthew J. Brauer,et al. Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways , 2011, Cell.
[7] J. García-Verdugo,et al. A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition , 2011, Nature Genetics.
[8] E. Bertini,et al. NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders , 2005, Journal of Medical Genetics.
[9] I. Glass,et al. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome , 2007, Nature Genetics.
[10] Z. Papp,et al. Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies. , 1980, Journal of medical genetics.
[11] A. Jana,et al. Joubert syndrome. , 2020, Indian pediatrics.
[12] D. Lindhout,et al. The Joubert syndrome associated with bilateral chorioretinal coloboma , 1981, European Journal of Pediatrics.
[13] Colin A. Johnson,et al. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes , 2010, Nature Genetics.
[14] Madeline A. Lancaster,et al. AHI1 is required for outer segment development and is a modifier for retinal degeneration in nephronophthisis , 2010, Nature Genetics.
[15] H. Zentgraf,et al. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. , 2011, The Journal of clinical investigation.
[16] E. Jamroz,et al. [Joubert syndrome and related disorders]. , 2012, Neurologia i neurochirurgia polska.
[17] R. Tusa,et al. "Joubert Syndrome" Revisited: Key Ocular Motor Signs With Magnetic Resonance Imaging Correlation , 1997, Journal of child neurology.
[18] I. Glass,et al. Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome , 2007, Journal of Medical Genetics.
[19] T. Roskams,et al. Lack of cilia and differentiation defects in the liver of human foetuses with the Meckel syndrome , 2007, Liver international : official journal of the International Association for the Study of the Liver.
[20] I. Glass,et al. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome , 2005, Journal of Medical Genetics.
[21] Dorothy A. Thompson,et al. Joubert syndrome: long-term follow-up. , 2004, Developmental medicine and child neurology.
[22] M. Muenke,et al. Clinical and molecular analysis in Joubert syndrome. , 1997, American journal of medical genetics.
[23] Elysa Widjaja,et al. Diffusion tensor imaging of midline posterior fossa malformations , 2006, Pediatric Radiology.
[24] M. Klinger,et al. Über eine seltene Form von Opticus-, Choroidea- und Retina-Dysplasie in Kombination mit einer occipitalen Encephalocele , 2005, Graefe's Archive for Clinical and Experimental Ophthalmology.
[25] R. Tenconi,et al. Chorioretinal coloboma and Joubert syndrome: a nonrandom association. , 1984, The Journal of pediatrics.
[26] W. Marshall. The cell biological basis of ciliary disease , 2008, The Journal of cell biology.
[27] T. Meitinger,et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. , 2006, American journal of human genetics.
[28] B. Maria,et al. Molar Tooth Sign in Joubert Syndrome: Clinical, Radiologic, and Pathologic Significance , 1999, Journal of child neurology.
[29] I. Glass,et al. Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI , 2005, Prenatal diagnosis.
[30] J. Egger,et al. Joubert–Boltshauser syndrome with polydactyly in siblings , 1982, Journal of neurology, neurosurgery, and psychiatry.
[31] B. Chodirker,et al. Another case of Varadi–Papp Syndrome with a molar tooth sign , 2005, American Journal of Medical Genetics. Part A.
[32] P Gissen,et al. Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes , 2003, Journal of medical genetics.
[33] Madeline A Lancaster,et al. The primary cilium as a cellular signaling center: lessons from disease. , 2009, Current opinion in genetics & development.
[34] L. Peltonen,et al. Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. , 2008, American journal of human genetics.
[35] D. Theriaque,et al. Quantitative Assessment of Brainstem Development in Joubert Syndrome and Dandy-Walker Syndrome , 2001, Journal of child neurology.
[36] M. Eccles,et al. Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome , 2005, Pediatric Nephrology.
[37] A. Munnich,et al. CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype–phenotype correlation , 2009, Human mutation.
[38] E. Boltshauser,et al. Follow-up in children with Joubert syndrome. , 1997, Neuropediatrics.
[39] M. King,et al. Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation. , 1984, Archives of disease in childhood.
[40] Sophie Saunier,et al. Nephronophthisis , 2008, Pediatric Nephrology.
[41] G. Hannon,et al. Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. , 2010, American journal of human genetics.
[42] Colin A. Johnson,et al. TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. , 2011, American journal of human genetics.
[43] V. Desmet. Congenital diseases of intrahepatic bile ducts: Variations on the theme “ductal plate malformation” , 1992, Hepatology.
[44] E. Bertini,et al. Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome , 2006 .
[45] 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.
[46] M. Dorschner,et al. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) , 2009, Journal of Medical Genetics.
[47] S. Wölfl,et al. A Crucial Role for Primary Cilia in Cortical Morphogenesis , 2008, The Journal of Neuroscience.
[48] B. Maria,et al. The face of Joubert syndrome: A study of dysmorphology and anthropometry , 2007, American journal of medical genetics. Part A.
[49] K. Haug,et al. OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs. , 2000, American journal of medical genetics.
[50] William B Dobyns,et al. A developmental and genetic classification for midbrain-hindbrain malformations. , 2009, Brain : a journal of neurology.
[51] A. Verloes,et al. Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. , 1989, American journal of medical genetics.
[52] H. Kayserili,et al. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. , 2004, American journal of human genetics.
[53] C. Frassoni,et al. Joubert syndrome with bilateral polymicrogyria: Clinical and neuropathological findings in two brothers , 2009, American journal of medical genetics. Part A.
[54] T. Matsuzaka,et al. Cerebro-Oculo-Hepato-Renal Syndrome (Arima's Syndrome): A Distinct Clinocopathological Entity , 1986, Journal of child neurology.
[55] T. Loenneker,et al. Diffusion Tensor Imaging in Joubert Syndrome , 2007, American Journal of Neuroradiology.
[56] A. Weiss,et al. Eye movement abnormalities in Joubert syndrome. , 2009, Investigative ophthalmology & visual science.
[57] A. Reiss,et al. Autistic features in Joubert syndrome: A genetic disorder with agenesis of the cerebellar vermis , 1991, Biological Psychiatry.
[58] I. Rapin,et al. Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis , 1997, Pediatric Nephrology.
[59] F. Hildebrandt,et al. Nephronophthisis: disease mechanisms of a ciliopathy. , 2009, Journal of the American Society of Nephrology : JASN.
[60] I. Glass,et al. Molar tooth sign of the midbrain–hindbrain junction: Occurrence in multiple distinct syndromes , 2004, American journal of medical genetics. Part A.
[61] Yan Liu,et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 , 2006, Nature Genetics.
[62] A. Munnich,et al. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes , 2011, Nature Genetics.
[63] 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.
[64] 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.
[65] M. Koenig,et al. Clinical Nosologic and Genetic Aspects of Joubert and Related Syndromes , 1999, Journal of child neurology.
[66] C. Goho,et al. Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Váradi syndrome). , 1994, American journal of medical genetics.
[67] Carolyn M Hutter,et al. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. , 2008, American journal of human genetics.
[68] J. Veltman,et al. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. , 2009, American journal of human genetics.
[69] Colin A. Johnson,et al. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum , 2011, Nature Genetics.
[70] M. Nelen,et al. DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands. , 2008, European journal of medical genetics.
[71] B. Maria,et al. Neurobehavioral Development in Joubert Syndrome , 1998, Journal of child neurology.
[72] D. Taylor,et al. Joubert syndrome: a clinico-radiological study , 2004, Neuroradiology.
[73] E. Gaffney,et al. Fluid mechanics of nodal flow due to embryonic primary cilia , 2008, Journal of The Royal Society Interface.
[74] E. Zackai,et al. Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. , 1990, American journal of medical genetics.
[75] K. Tory,et al. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11) , 2009, Journal of Medical Genetics.
[76] W. Dobyns,et al. Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. , 1999, American journal of medical genetics.
[77] C. Walsh,et al. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome , 2004, Nature Genetics.
[78] G. Dumermuth,et al. JOUBERT SYNDROME: CLINICAL AND POLYGRAPHIC OBSERVATIONS IN A FURTHER CASE , 1981, Neuropediatrics.
[79] Colin A. Johnson,et al. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat , 2006, Nature Genetics.
[80] Carsten Bergmann,et al. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel‐Gruber syndrome , 2008, Human mutation.
[81] Chih-ping Chen. Meckel syndrome: genetics, perinatal findings, and differential diagnosis. , 2007, Taiwanese journal of obstetrics & gynecology.
[82] B. Maria,et al. Cognition, Behavior, and Development in Joubert Syndrome , 1999, Journal of child neurology.
[83] F. Brancati,et al. Genotypes and phenotypes of Joubert syndrome and related disorders. , 2008, European journal of medical genetics.
[84] E. Boltshauser,et al. Joubert Syndrome: Episodic Hyperpnea, Abnormal Eye Movements, Retardation and Ataxia, Associated with Dysplasia of the Cerebellar Vermis , 1977, Neuropadiatrie.
[85] Madeline A. Lancaster,et al. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome , 2006, Nature Genetics.
[86] T. Sanger,et al. RPGRIP1L mutations are mainly associated with the cerebello‐renal phenotype of Joubert syndrome‐related disorders , 2008, Clinical genetics.
[87] J. Iverson,et al. Oromotor and Communication Findings in Joubert Syndrome: Further Evidence of Multisystem Apraxia , 2006, Journal of child neurology.
[88] M. Baraitser,et al. Joubert syndrome: a review. , 1992, American journal of medical genetics.
[89] S. Scheinman,et al. Inherited cerebrorenal syndromes , 2009, Nature Reviews Nephrology.
[90] R. Salomon,et al. Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis. , 2007, Kidney international.
[91] E. Bertini,et al. AHI1 gene mutations cause specific forms of Joubert syndrome–related disorders , 2006, Annals of neurology.
[92] E. Bertini,et al. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement , 2009, Human mutation.
[93] A. Fischer,et al. Joubert Syndrome: Early Diagnosis by Recognition of the Behavioral Phenotype and Confirmation by Cranial Sonography , 1988, Journal of child neurology.
[94] C. Antignac,et al. Evidence of oligogenic inheritance in nephronophthisis. , 2007, Journal of the American Society of Nephrology : JASN.
[95] Colin A. Johnson,et al. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. , 2007, American journal of human genetics.
[96] E. Bertini,et al. Novel TMEM67 mutations and genotype‐phenotype correlates in meckelin‐related ciliopathies , 2010, Human mutation.
[97] J. Reiter,et al. The Primary Cilium as the Cell's Antenna: Signaling at a Sensory Organelle , 2006, Science.
[98] B. Maria,et al. Clinical Features and Revised Diagnostic Criteria in Joubert Syndrome , 1999, Journal of child neurology.
[99] A. Gul,et al. Prenatal diagnosis of Joubert syndrome: a case report , 2002, Prenatal diagnosis.
[100] R. Tusa,et al. Ocular and Oculomotor Signs in Joubert Syndrome , 1999, Journal of child neurology.
[101] Nicholas Katsanis,et al. The ciliopathies: an emerging class of human genetic disorders. , 2006, Annual review of genomics and human genetics.
[102] K. Takeshita,et al. Joubert syndrome associated with unilateral ptosis and Leber congenital amaurosis. , 1986, Pediatric neurology.
[103] J. Opitz,et al. The Meckel syndrome: clinicopathological findings in 67 patients. , 1984, American journal of medical genetics.
[104] K. Anderson,et al. Cilia and developmental signaling. , 2007, Annual review of cell and developmental biology.
[105] L. Peltonen,et al. Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? , 2009, Human mutation.
[106] L. Incesu,et al. Joubert syndrome with atrial septal defect and persistent left superior vena cava. , 2007, Diagnostic and interventional radiology.
[107] Friedhelm Hildebrandt,et al. Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? , 2005, Nature Reviews Genetics.
[108] K. Millen,et al. Cerebellar development and disease , 2008, Current Opinion in Neurobiology.
[109] J. Aicardi,et al. [Joubert's syndrome. Apropos of 5 cases]. , 1983, Archives francaises de pediatrie.
[110] J. García-Verdugo,et al. Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool. , 2008, Developmental biology.
[111] E. Bertini,et al. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. , 2007, American journal of human genetics.
[112] Colin A. Johnson,et al. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome , 2007, Nature Genetics.
[113] S. Fisher,et al. Dissection of epistasis in oligogenic Bardet–Biedl syndrome , 2006, Nature.
[114] Arif O. Khan,et al. Ophthalmic features of Joubert syndrome. , 2008, Ophthalmology.
[115] Colin A. Johnson,et al. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. , 2007, American journal of human genetics.
[116] 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.
[117] A. Dekaban. Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain. , 1969, American journal of ophthalmology.
[118] E. Valente,et al. Ophthalmological findings in Joubert syndrome , 2010, Eye.
[119] K. Arima,et al. Renal disease in Arima syndrome is nephronophthisis as in other Joubert‐related Cerebello–oculo–renal syndromes , 2004, American journal of medical genetics. Part A.
[120] M. Ross,et al. The molar tooth sign , 2008, Neurology.
[121] Colin A. Johnson,et al. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. , 2008, American journal of human genetics.
[122] I. Glass,et al. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. , 2004, American journal of human genetics.
[123] L. Al-Gazali,et al. Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome? , 1999, Journal of Medical Genetics.
[124] L. Rorke,et al. Neuropathology of Joubert Syndrome , 1999, Journal of child neurology.
[125] S. Targan,et al. Development of hydrocephalus in a patient with Joubert syndrome. , 2004, Journal of Postgraduate Medicine.
[126] E. Trinka,et al. Hypoplasia of deep cerebellar nuclei in joubert syndrome. , 2009, Pediatric neurology.
[127] A. Munnich,et al. Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype , 2007, Human mutation.
[128] P. Satir,et al. Sensory Cilia and Integration of Signal Transduction in Human Health and Disease , 2007, Traffic.
[129] S. Halford,et al. Ocular coloboma: a reassessment in the age of molecular neuroscience , 2004, Journal of Medical Genetics.
[130] F. Andermann,et al. Familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation. , 1968, Neurology.
[131] C. Ayuso,et al. Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome. , 2000, American journal of medical genetics.
[132] J. R. Buncic,et al. Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders. , 1994, American journal of medical genetics.
[133] H. T. ten Donkelaar,et al. A case of Joubert's syndrome with extensive cerebral malformations. , 2000, Clinical neuropathology.
[134] F. Brancati,et al. Normal cognitive functions in joubert syndrome. , 2009, Neuropediatrics.
[135] G. Yildirim,et al. Termination of pregnancy for fetal anomaly , 2007, International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics.