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

Autosomal Recessive Polycystic Kidney Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Cilia Medicine & Life Sciences
Gray Platelet Syndrome Medicine & Life Sciences
Alstrom Syndrome Medicine & Life Sciences
Blood Platelets Medicine & Life Sciences
Genes Medicine & Life Sciences

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Research Output 1992 2018

Characteristics of Liver Disease in 100 Individuals with Joubert Syndrome Prospectively Evaluated at a Single Center

NISC Comparative Sequencing Program Mar 1 2018 In : Journal of Pediatric Gastroenterology and Nutrition. 66, 3, p. 428-435 8 p.

Research output: Contribution to journalArticle

Portal Hypertension
Liver Diseases
Liver
Coloboma
Splenomegaly

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: Contribution to journalArticle

Glycosylation
Fibroblasts
Cytidine Monophosphate N-Acetylneuraminic Acid
Exome
Skin

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: Contribution to journalArticle

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: Contribution to journalArticle

Cell Polarity
Growth Hormone
Nervous System Malformations
Mutation
Cilia

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: Contribution to journalArticle

Alstrom Syndrome
Cardiomyopathies
Imaging techniques
Magnetic resonance
Medical problems