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, Gahl, W A, Gentile, M, Gorden, N T, Hikida, A, Knutzen, D, Özyurek, H, Phelps, I, Rosenthal, P, Verloes, A, Weigand, H, Chance, P F, Dobyns, W B, Glass, I A
Published in Journal of medical genetics (01.01.2010)
Published in Journal of medical genetics (01.01.2010)
Get full text
Journal Article
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
Parisi, M A, Doherty, D, Eckert, M L, Shaw, D W W, Ozyurek, H, Aysun, S, Giray, O, Al Swaid, A, Al Shahwan, S, Dohayan, N, Bakhsh, E, Indridason, O S, Dobyns, W B, Bennett, C L, Chance, P F, Glass, I A
Published in Journal of medical genetics (01.04.2006)
Published in Journal of medical genetics (01.04.2006)
Get full text
Journal Article
Expression of SHOX in Human Fetal and Childhood Growth Plate
Munns, C. J. F., Haase, H. R., Crowther, L. M., Hayes, M. T., Blaschke, R., Rappold, G., Glass, I. A., Batch, J. A.
Published in The journal of clinical endocrinology and metabolism (01.08.2004)
Published in The journal of clinical endocrinology and metabolism (01.08.2004)
Get full text
Journal Article
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy
Lehman, A.M., Eydoux, P., Doherty, D., Glass, I.A., Chitayat, D., Chung, B.Y.H., Langlois, S., Yong, S.L., Lowry, R.B., Hildebrandt, F., Trnka, P.
Published in American journal of medical genetics. Part A (01.06.2010)
Published in American journal of medical genetics. Part A (01.06.2010)
Get full text
Journal Article
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., Rimoin, D.L., Kousseff, B.G., Ohashi, H., Zabel, B., Munnich, A., Gecz, J., Mulley, J.C.
Published in American journal of human genetics (01.06.2001)
Published in American journal of human genetics (01.06.2001)
Get full text
Journal Article
Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis
Moloney, DM, Wall, SA, Ashworth, GJ, Oldridge, M, Glass, IA, Francomano, CA, Muenke, M, Wilkie, AOM
Published in The Lancet (British edition) (12.04.1997)
Published in The Lancet (British edition) (12.04.1997)
Get full text
Journal Article
Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures
BENNETT, C. L, HUYNH, H. M, CHANCE, P. F, GLASS, I. A, GOSPE, S. M
Published in Neurogenetics (01.09.2005)
Published in Neurogenetics (01.09.2005)
Get full text
Journal Article
Familial Growth and Skeletal Features Associated with SHOX Haploinsufficiency
Munns, C.F.J., Glass, I.A., Flanagan, S., Hayes, M., Williams, B., Berry, M., Vickers, D., O'Rourke, P., Rao, E., Rappold, G.A., Hyland, V.J., Batch, J.A.
Published in Journal of Pediatric Endocrinology and Metabolism (01.09.2003)
Published in Journal of Pediatric Endocrinology and Metabolism (01.09.2003)
Get full text
Journal Article
Effect of 24 Months of Recombinant Growth Hormone on Height and Body Proportions in SHOX Haploinsufficiency
Munns, C.F.J., Berry, M., Vickers, D., Rappold, G.A., Hyland, V.J., Glass, I.A., Batch, J.A.
Published in Journal of Pediatric Endocrinology and Metabolism (01.09.2003)
Published in Journal of Pediatric Endocrinology and Metabolism (01.09.2003)
Get full text
Journal Article
Prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1 molecular analysis
Klingberg, S., Mortimore, R., Parkes, J., Chick, J. E. D., Clague, A. E., Murrell, D., Weedon, D., Glass, I. A.
Published in Prenatal diagnosis (01.08.2000)
Published in Prenatal diagnosis (01.08.2000)
Get full text
Journal Article
Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome
Glass, I A, Good, P, Coleman, M P, Fullwood, P, Giles, M G, Lindsay, S, Nemeth, A H, Davies, K E, Willshaw, H A, Fielder, A
Published in Journal of medical genetics (01.12.1993)
Published in Journal of medical genetics (01.12.1993)
Get full text
Journal Article
Congenital Erythropoietic Porphyria: Prolonged High-Level Expression and Correction of the Heme Biosynthetic Defect by Retroviral-Mediated Gene Transfer into Porphyric and Erythroid Cells
Kauppinen, R., Glass, I.A., Aizencang, G., Astrin, K.H., Atweh, G.F., Desnick, R.J.
Published in Molecular genetics and metabolism (01.09.1998)
Published in Molecular genetics and metabolism (01.09.1998)
Get full text
Journal Article
Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood
Flanagan, S F, Munns, C F J, Hayes, M, Williams, B, Berry, M, Vickers, D, Rao, E, Rappold, G A, Batch, J A, Hyland, V J, Glass, I A
Published in Journal of medical genetics (01.10.2002)
Published in Journal of medical genetics (01.10.2002)
Get full text
Journal Article
Low Maternal Serum Oestriol at Mid-Trimester May Indicate a Fetal Disorder of Cholesterol Biosynthesis
Craig MBBS, J.E., Savage MSc, V., Cowley FRCPA, D., Clague FRCPA, A., Glass MD, LA
Published in Australian & New Zealand journal of obstetrics & gynaecology (01.05.1999)
Published in Australian & New Zealand journal of obstetrics & gynaecology (01.05.1999)
Get full text
Journal Article
Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome
SUTHERS, G. K, MULLEY, J. C, HAITES, N. E, OOSTRA, B. A, GINE, R, CARBALLO, M, MORRIS, C. P, HOPWOOD, J. J, SUTHERLAND, G. R, VOELCKEL, M. A, DAHL, N, VÄISÄNEN, M. L, STEINBACH, P, GLASS, I. A, SCHWARTZ, C. E, VAN OOST, B. A, THIBODEAU, S. N
Published in American journal of human genetics (01.03.1991)
Get full text
Published in American journal of human genetics (01.03.1991)
Journal Article
Generation of sequence-tagged sites from Xp22.3 by isolating common Alu-PCR products of radiation hybrids retaining overlapping human X chromosome fragments
Glass, I A, Passage, M, Bernatowicz, L, Salido, E C, Mohandas, T, Yen, P H, Shapiro, L J
Published in Human genetics (01.05.1996)
Published in Human genetics (01.05.1996)
Get more information
Journal Article
Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase
Glass, I A, Swindlehurst, C A, Aitken, D A, McCrea, W, Boyd, E
Published in Journal of medical genetics (01.02.1989)
Published in Journal of medical genetics (01.02.1989)
Get full text
Journal Article