Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

Mutation Medicine & Life Sciences
Joubert syndrome 1 Medicine & Life Sciences
Genes Medicine & Life Sciences
Ciliopathies Medicine & Life Sciences
Autosomal Recessive Polycystic Kidney Medicine & Life Sciences
Blood Platelets Medicine & Life Sciences
Kidney Medicine & Life Sciences
Phenotype Medicine & Life Sciences

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Research Output 1992 2017

Abnormal glycosylation in Joubert syndrome type 10

Kane, M. S., Davids, M., Bond, M. R., Adams, C. J., Grout, M. E., Phelps, I. G., O'Day, D. R., Dempsey, J. C., Li, X., Golas, G., Vezina, G., Gunay-Aygun, M., Hanover, J. A., Doherty, D., He, M., Malicdan, M. C. V., Gahl, W. A. & Boerkoel, C. F. Mar 23 2017 In : Cilia. 6, 1, 2

Research output: Research - peer-reviewArticle

Glycosylation
Fibroblasts
Joubert Syndrome 10
Skin
Mutation

Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients

Lindsey, S., Brewer, C., Stakhovskaya, O., Kim, H. J., Zalewski, C., Bryant, J., King, K. A., Naggert, J. K., Gahl, W. A., Marshall, J. D. & Gunay-Aygun, M. Aug 1 2017 In : American Journal of Medical Genetics, Part A. 173, 8, p. 2210-2218 9 p.

Research output: Research - peer-reviewArticle

Alstrom Syndrome
Hearing Loss
Ear
Outer Auditory Hair Cells
Retinal Dystrophies

CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency

Vilboux, T., Malicdan, M. C. V., Roney, J. C., Cullinane, A. R., Stephen, J., Yildirimli, D., Bryant, J., Fischer, R., Vemulapalli, M., Mullikin, J. C., Steinbach, P. J., Gahl, W. A., Gunay-Aygun, M. & NISC Comparative Sequencing Program Mar 1 2017 In : American Journal of Medical Genetics, Part A. 173, 3, p. 661-666 6 p.

Research output: Research - peer-reviewArticle

Cell Polarity
Growth Hormone
Mutation
Genes
Proteins

Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients

Brofferio, A., Sachdev, V., Hannoush, H., Marshall, J. D., Naggert, J. K., Sidenko, S., Noreuil, A., Sirajuddin, A., Bryant, J., Han, J. C., Arai, A. E., Gahl, W. A. & Gunay-Aygun, M. Aug 1 2017 In : Molecular Genetics and Metabolism. 121, 4, p. 336-343 8 p.

Research output: Research - peer-reviewArticle

Alstrom Syndrome
Cardiomyopathies
Imaging techniques
Magnetic resonance
Medical problems

Defective ciliogenesis in INPP5E-related Joubert syndrome

Hardee, I., Soldatos, A., Davids, M., Vilboux, T., Toro, C., David, K. L., Ferreira, C. R., Nehrebecky, M., Snow, J., Thurm, A., Heller, T., Macnamara, E. F., Gunay-Aygun, M., Zein, W. M., Gahl, W. A. & Malicdan, M. C. V. 2017 (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Research - peer-reviewArticle

Cilia
Joubert syndrome 1
Fibroblasts
Phenotype
Genes