Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers (Q57206951)

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

The Ciliopathies: An Emerging Class of Human Genetic Disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

Ciliary biology: understanding the cellular and genetic basis of human ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

The vertebrate primary cilium in development, homeostasis, and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

A highly informative SNP linkage panel for human genetic studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

Establishing a connection between cilia and Bardet-Biedl Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173

Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34173