Pages that link to "Q24539611"

The following pages link to A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping (Q24539611):

Displaying 29 items.

• A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution (Q24305835) (← links)
• The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin (Q24307506) (← links)
• Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis (Q24310102) (← links)
• Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation (Q24532842) (← links)
• Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree (Q24540483) (← links)
• Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36 (Q24563846) (← links)
• Nephronophthisis (Q24601139) (← links)
• Nephronophthisis and related syndromes (Q28081939) (← links)
• Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination (Q28188363) (← links)
• Nephronophthisis: disease mechanisms of a ciliopathy (Q33594278) (← links)
• Molecular basis of autosomal recessive diseases among the Palestinian Arabs (Q34125582) (← links)
• Commonalities in Development of Pure Breeds and Population Isolates Revealed in the Genome of the Sardinian Fonni's Dog (Q34537225) (← links)
• Murine models of polycystic kidney disease: molecular and therapeutic insights (Q35576595) (← links)
• Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? (Q36337939) (← links)
• Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis (Q36417359) (← links)
• Mutant prenyltransferase-like mitochondrial protein (PLMP) and mitochondrial abnormalities in kd/kd mice (Q36477864) (← links)
• Genetic kidney diseases in the pediatric population of southern Israel (Q36506391) (← links)
• Inversin modulates the cortical actin network during mitosis (Q37050915) (← links)
• Inherited cerebrorenal syndromes (Q37585088) (← links)
• Ciliopathies (Q38994215) (← links)
• High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients. (Q40726154) (← links)
• SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome (Q42428355) (← links)
• Loss of inversin decreases transepithelial sodium transport in murine renal cells (Q42516314) (← links)
• Retinal function and morphology in two zebrafish models of oculo‐renal syndromes (Q44597425) (← links)
• Ocular manifestations associated with nephronophthisis and genetic study in three Tunisian families (Q46509526) (← links)
• Early presentation of cystic kidneys in a family with a homozygousINVSmutation (Q55738668) (← links)
• Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: Insights from molecular screening (Q57980406) (← links)
• Exclusion of SIX6 hemizygosity in a child with anophthalmia, panhypopituitarism and renal failure (Q77359214) (← links)
• Nephronophthisis (Q84587590) (← links)