Clinical utility gene card for: Meckel syndrome

[1] Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (01) : 170 - 179

[2] Loss of nephrocystin-3 function can cause embryonic lethality, meckel-gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (04) : 959 - 970

[3] Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3 [J]. HUMAN GENETICS, 2007, 121 (05) : 591 - 599

[4] The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation [J]. HUMAN MOLECULAR GENETICS, 2007, 16 (02) : 173 - 186

[5] The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome [J]. NATURE GENETICS, 2007, 39 (07) : 875 - 881

[6] Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome [J]. HUMAN MUTATION, 2008, 29 (01) : 45 - 52

[7] Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber Syndrome [J]. HUMAN MUTATION, 2007, 28 (06) : 638 - 647

[8] Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies [J]. HUMAN MUTATION, 2010, 31 (05) : E1319 - E1331

[9] Khaddour Rana, 2007, Hum Mutat, V28, P523, DOI 10.1002/humu.9489

[10] MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome [J]. NATURE GENETICS, 2006, 38 (02) : 155 - 157

[1] Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (01) : 170 - 179

[2] Loss of nephrocystin-3 function can cause embryonic lethality, meckel-gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (04) : 959 - 970

[3] Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3 [J]. HUMAN GENETICS, 2007, 121 (05) : 591 - 599

[4] The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation [J]. HUMAN MOLECULAR GENETICS, 2007, 16 (02) : 173 - 186

[5] The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome [J]. NATURE GENETICS, 2007, 39 (07) : 875 - 881

[6] Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome [J]. HUMAN MUTATION, 2008, 29 (01) : 45 - 52

[7] Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber Syndrome [J]. HUMAN MUTATION, 2007, 28 (06) : 638 - 647

[8] Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies [J]. HUMAN MUTATION, 2010, 31 (05) : E1319 - E1331

[9] Khaddour Rana, 2007, Hum Mutat, V28, P523, DOI 10.1002/humu.9489

[10] MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome [J]. NATURE GENETICS, 2006, 38 (02) : 155 - 157