16 results for author:"Glass I.A." in Literature citations
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| CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Lee J.E., Silhavy J.L., Zaki M.S., Schroth J., Bielas S.L., Marsh S.E., Olvera J., Brancati F., Iannicelli M., Ikegami K. et al. |
| Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). Doherty D., Parisi M.A., Finn L.S., Gunay-Aygun M., Al-Mateen M., Bates D., Clericuzio C., Demir H., Dorschner M., van Essen A.J. et al. |
| Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients. Bennett C.L., Chen Y., Hahn S., Glass I.A., Gospe S.M. Jr. Epilepsia 50:1167-1175(2009) · Mapped (1) |
| CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Gorden N.T., Arts H.H., Parisi M.A., Coene K.L.M., Letteboer S.J.F., van Beersum S.E.C., Mans D.A., Hikida A., Eckert M., Knutzen D. et al. Am. J. Hum. Genet. 83:559-571(2008) · UniProtKB (2) · Mapped (4) |
| Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. The international Joubert syndrome related disorders (JSRD) study group Am. J. Hum. Genet. 83:170-179(2008) · UniProtKB (1) · Mapped (6) |
| Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Arts H.H., Doherty D., van Beersum S.E.C., Parisi M.A., Letteboer S.J.F., Gorden N.T., Peters T.A., Maerker T., Voesenek K., Kartono A. et al. |
| The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Sayer J.A., Otto E.A., O'toole J.F., Nurnberg G., Kennedy M.A., Becker C., Hennies H.C., Helou J., Attanasio M., Fausett B.V. et al. |
| Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease. Chen Y.-Z., Hashemi S.H., Anderson S.K., Huang Y., Moreira M.-C., Lynch D.R., Glass I.A., Chance P.F., Bennett C.L. Neurobiol. Dis. 23:97-108(2006) · UniProtKB (2) · Mapped (1) |
| AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. Parisi M.A., Doherty D., Eckert M.L., Shaw D.W., Ozyurek H., Aysun S., Giray O., Al Swaid A., Al Shahwan S., Dohayan N. et al. J. Med. Genet. 43:334-339(2006) · Mapped (12) |
| Expression of SHOX in human fetal and childhood growth plate. Munns C.J., Haase H.R., Crowther L.M., Hayes M.T., Blaschke R., Rappold G., Glass I.A., Batch J.A. J. Clin. Endocrinol. Metab. 89:4130-4135(2004) · Mapped (2) |
| The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Parisi M.A., Bennett C.L., Eckert M.L., Dobyns W.B., Gleeson J.G., Shaw D.W.W., McDonald R., Eddy A., Chance P.F., Glass I.A. Am. J. Hum. Genet. 75:82-91(2004) · UniProtKB (1) · Mapped (3) |
| Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene. Bennett C.L., Parisi M.A., Eckert M.L., Huynh H.M., Chance P.F., Glass I.A. Am. J. Med. Genet. A 125A:117-124(2004) · Mapped (1) |
| Familial growth and skeletal features associated with SHOX haploinsufficiency. Munns C.F., Glass I.A., Flanagan S., Hayes M., Williams B., Berry M., Vickers D., O'Rourke P., Rao E., Rappold G.A. et al. J. Pediatr. Endocrinol. Metab. 16:987-996(2003) · Mapped (2) |
| Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. Hyland V.J., Robertson S.P., Flanagan S., Savarirayan R., Roscioli T., Masel J., Hayes M., Glass I.A. Am. J. Med. Genet. A 120A:157-168(2003) · Mapped (10) |
| The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Gedeon A.K., Tiller G.E., Le Merrer M., Heuertz S., Tranebjaerg L., Chitayat D., Robertson S., Glass I.A., Savarirayan R., Cole W.G. et al. Am. J. Hum. Genet. 68:1386-1397(2001) · UniProtKB (1) |
| Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation. De Siervi A., Rossetti M.V., Parera V.E., Astrin K.H., Aizencang G.I., Glass I.A., Batlle A.M.C., Desnick R.J. Am. J. Med. Genet. 86:366-375(1999) · UniProtKB (1) |