Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.
about
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeEvolutionarily assembled cis-regulatory module at a human ciliopathy locusThe Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formationDescription, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesCC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlationJoubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutationAHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndromeCEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersThe Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromeAbnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndromeIdentification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndromeHuntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in miceGenetics of the polymicrogyria syndromes.Autosomal recessive cerebellar ataxias.Clinical and molecular features of Joubert syndrome and related disorders.Disease gene characterization through large-scale co-expression analysisNephronophthisis: disease mechanisms of a ciliopathy.The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.Ocular coloboma: a reassessment in the age of molecular neuroscience.Joubert syndrome: review and report of seven new cases.Genetic basis of Joubert syndrome and related disorders of cerebellar development.A developmental and genetic classification for midbrain-hindbrain malformations.Joubert syndrome associated with severe central sleep apnea.Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.Diffusion tensor imaging in Joubert syndrome.Joubert syndrome: large clinical variability and a unique neuroimaging aspect.Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders.Molecular characterization of Joubert syndrome in Saudi Arabia.Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome.Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.
P2860
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P2860
Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.
description
2003 nî lūn-bûn
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2003 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
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2003 թվականի օգոստոսին հրատարակված գիտական հոդված
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2003年の論文
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2003年論文
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2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Linkage analysis in families w ...... ocus on chromosome 11p12-q13.3
@nl
Linkage analysis in families w ...... cus on chromosome 11p12-q13.3.
@ast
Linkage analysis in families w ...... cus on chromosome 11p12-q13.3.
@en
Linkage analysis in families w ...... cus on chromosome 11p12-q13.3.
@en-gb
type
label
Linkage analysis in families w ...... ocus on chromosome 11p12-q13.3
@nl
Linkage analysis in families w ...... cus on chromosome 11p12-q13.3.
@ast
Linkage analysis in families w ...... cus on chromosome 11p12-q13.3.
@en
Linkage analysis in families w ...... cus on chromosome 11p12-q13.3.
@en-gb
prefLabel
Linkage analysis in families w ...... ocus on chromosome 11p12-q13.3
@nl
Linkage analysis in families w ...... cus on chromosome 11p12-q13.3.
@ast
Linkage analysis in families w ...... cus on chromosome 11p12-q13.3.
@en
Linkage analysis in families w ...... cus on chromosome 11p12-q13.3.
@en-gb
P2093
P2860
P356
P1476
Linkage analysis in families w ...... cus on chromosome 11p12-q13.3.
@en
P2093
Aithala Gururaj
Christopher G Woods
Esther P Leeflang
Lesley C Keeler
László Sztriha
Sarah E Marsh
P2860
P304
P356
10.1086/378206
P407
P577
2003-08-13T00:00:00Z