Meral Gunay-Aygun

Associate Professor

1992 …2018
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Research Output 1992 2018

Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center

Waldman, M., Han, J. C., Reyes-Capo, D. P., Bryant, J., Carson, K. A., Turkbey, B., Choyke, P., Naggert, J. K., Gahl, W. A., Marshall, J. D. & Gunay-Aygun, M., Jan 1 2018, (Accepted/In press) In : Molecular Genetics and Metabolism.

Research output: Contribution to journalArticle

Alstrom Syndrome
Dyslipidemias
Cardiomyopathies
Insulin Resistance
Kidney Diseases

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

Comprehensive Endocrine-Metabolic Evaluation of Patients with Alström Syndrome Compared with BMI-Matched Controls

Han, J. C., Reyes-Capo, D. P., Liu, C. Y., Reynolds, J. C., Turkbey, E., Turkbey, I. B., Bryant, J., Marshall, J. D., Naggert, J. K., Gahl, W. A., Yanovski, J. A. & Gunay-Aygun, M., Jul 1 2018, In : Journal of Clinical Endocrinology and Metabolism. 103, 7, p. 2707-2719 13 p.

Research output: Contribution to journalArticle

Alstrom Syndrome
Body Mass Index
Pollution detection
Magnetometers
Flow fields

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center

Brooks, B. P., Zein, W. M., Thompson, A. H., Mokhtarzadeh, M., Doherty, D. A., Parisi, M., Glass, I. A., Malicdan, M. C., Vilboux, T., Vemulapalli, M., Mullikin, J. C., Gahl, W. A. & Gunay-Aygun, M., Jan 1 2018, (Accepted/In press) In : Ophthalmology.

Research output: Contribution to journalArticle

Genotype
Retinal Degeneration
Coloboma
Visual Acuity
Electroretinography

Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells

May-Simera, H. L. , Wan, Q. , Jha, B. S. , Hartford, J. , Khristov, V. , Dejene, R. , Chang, J. , Patnaik, S. , Lu, Q. , Banerjee, P. , Silver, J. , Insinna-Kettenhofen, C. , Patel, D. , Lotfi, M. , Malicdan, M. , Hotaling, N. , Maminishkis, A. , Sridharan, R. , Brooks, B. , Miyagishima, K. & 6 others Gunay-Aygun, M., Pal, R., Westlake, C., Miller, S., Sharma, R. & Bharti, K., Jan 2 2018, In : Cell Reports. 22, 1, p. 189-205 17 p.

Research output: Contribution to journalArticle

Retinal Pigment Epithelium
Cilia
Induced Pluripotent Stem Cells
Retinal Degeneration
Epithelium