NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.
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Joubert Syndrome and related disordersMutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeNephronophthisisMutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegansAHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndromeCerebellar development and diseaseCEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersThe Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromeWdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeletonIdentification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndromeAutosomal recessive cerebellar ataxias.Clinical and molecular features of Joubert syndrome and related disorders.Novel approaches to studying the genetic basis of cerebellar developmentJoubert syndrome: insights into brain development, cilium biology, and complex disease.Nephronophthisis: disease mechanisms of a ciliopathy.Juvenile nephronophthisis and dysthyroidism: a rare associationVisualization of fine-scale genomic structure by oligonucleotide-based high-resolution FISH.Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking.Genetic basis of Joubert syndrome and related disorders of cerebellar development.Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders.Current insights into renal ciliopathies: what can genetics teach us?Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disordersJoubert syndrome: congenital cerebellar ataxia with the molar toothRPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.Motile and non-motile cilia in human pathology: from function to phenotypes.Joubert syndrome: the molar tooth sign of the mid-brain.Joubert syndrome in three children in a family: a case series.Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion.Diffusion tensor imaging in Joubert syndrome.Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders.NGAL as an early biomarker of kidney disease in Joubert syndrome: three brothers compared.The Expanding Joubert SpectrumWhen is biopsy-proven TIN not simply TIN? Answers
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P2860
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.
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2005 nî lūn-bûn
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2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
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2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
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2005年学术文章
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2005年學術文章
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NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.
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NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.
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label
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.
@en
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.
@nl
prefLabel
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.
@en
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.
@nl
P2093
P356
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NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders
@en
P2093
B Dallapiccola
E M Valente
E Procopio
Italian MTS Study Group
M A Donati
T Galluccio
P356
10.1136/JMG.2004.027375
P407
P577
2005-02-01T00:00:00Z