Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity
about
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeThe ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndromeLinkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.Description, 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.Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34NephronophthisisCC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlationMutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathiesAHI1 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 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.Nephronophthisis: disease mechanisms of a ciliopathy.The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.Joubert syndrome: review and report of seven new cases.Genetic basis of Joubert syndrome and related disorders of cerebellar development.Mutation spectrum of Joubert syndrome and related disorders among Arabs.A developmental and genetic classification for midbrain-hindbrain malformations.Joubert syndrome: Report of a neonatal case.Orocraniofacial findings of a Pediatric Patient with Joubert Syndrome.Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.Gillespie syndrome: two further cases.Diffusion tensor imaging in Joubert syndrome.Joubert syndrome: large clinical variability and a unique neuroimaging aspect.Molecular characterization of Joubert syndrome in Saudi Arabia.Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.
P2860
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P2860
Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Homozygosity mapping in famili ...... ence for genetic heterogeneity
@ast
Homozygosity mapping in famili ...... ence for genetic heterogeneity
@en
Homozygosity mapping in famili ...... ence for genetic heterogeneity
@nl
type
label
Homozygosity mapping in famili ...... ence for genetic heterogeneity
@ast
Homozygosity mapping in famili ...... ence for genetic heterogeneity
@en
Homozygosity mapping in famili ...... ence for genetic heterogeneity
@nl
prefLabel
Homozygosity mapping in famili ...... ence for genetic heterogeneity
@ast
Homozygosity mapping in famili ...... ence for genetic heterogeneity
@en
Homozygosity mapping in famili ...... ence for genetic heterogeneity
@nl
P2093
P2860
P356
P1476
Homozygosity mapping in famili ...... ence for genetic heterogeneity
@en
P2093
Al-Gazali L
Nur-E-Kamal M
Rueschendorf F
P2860
P304
P356
10.1086/302655
P407
P50
P577
1999-12-01T00:00:00Z