Search Results - "Yildirimli, Deniz"

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center by Vilboux, Thierry, Doherty, Daniel A., Glass, Ian A., Parisi, Melissa A., Phelps, Ian G., Cullinane, Andrew R., Zein, Wadih, Brooks, Brian P., Heller, Theo, Soldatos, Ariane, Oden, Neal L., Yildirimli, Deniz, Vemulapalli, Meghana, Mullikin, James C., NISC Comparative Sequencing Program, Malicdan, May Christine V., Gahl, William A., Gunay-Aygun, Meral

“…Purpose: Joubert syndrome (JS) is a genetically and clinically heterogeneous ciliopathy characterized by distinct cerebellar and brainstem malformations…”
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Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause by Poretti, Andrea, Snow, Joseph, Summers, Angela C, Tekes, Aylin, Huisman, Thierry A G M, Aygun, Nafi, Carson, Kathryn A, Doherty, Dan, Parisi, Melissa A, Toro, Camilo, Yildirimli, Deniz, Vemulapalli, Meghana, Mullikin, Jim C, Cullinane, Andrew R, Vilboux, Thierry, Gahl, William A, Gunay-Aygun, Meral

“…Joubert syndrome is a clinically and genetically heterogeneous ciliopathy. Neuroimaging findings have not been systematically evaluated in a large cohort of…”
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Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes by Malicdan, May Christine V, Vilboux, Thierry, Stephen, Joshi, Maglic, Dino, Mian, Luhe, Konzman, Daniel, Guo, Jennifer, Yildirimli, Deniz, Bryant, Joy, Fischer, Roxanne, Zein, Wadih M, Snow, Joseph, Vemulapalli, Meghana, Mullikin, James C, Toro, Camilo, Solomon, Benjamin D, Niederhuber, John E, Gahl, William A, Gunay-Aygun, Meral

“…In chicken, loss of TALPID3 results in non-functional cilia and short-rib polydactyly syndrome. This phenotype is caused by a frameshift mutation in the…”
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Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency by Stephen, Joshi, Vilboux, Thierry, Mian, Luhe, Kuptanon, Chulaluck, Sinclair, Courtney M., Yildirimli, Deniz, Maynard, Dawn M., Bryant, Joy, Fischer, Roxanne, Vemulapalli, Meghana, Mullikin, James C., Huizing, Marjan, Gahl, William A., Malicdan, May Christine V., Gunay-Aygun, Meral

“…Joubert syndrome and related disorders (JSRD) are a heterogeneous group of ciliopathies defined based on the mid-hindbrain abnormalities that result in the…”
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Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center by Strongin, Anna, Heller, Theo, Doherty, Dan, Glass, Ian A., Parisi, Melissa A., Bryant, Joy, Choyke, Peter, Turkbey, Baris, Daryanani, Kailash, Yildirimli, Deniz, Vemulapalli, Meghana, Mullikin, Jim C., Malicdan, May C., Vilboux, Thierry, Gahl, William A., Gunay‐Aygun, Meral

“…ABSTRACT Background and Aims: Joubert Syndrome (JS) is a rare, inherited, ciliopathy defined by cerebellar and brainstem malformations and is variably…”
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CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency by Vilboux, Thierry, Malicdan, May Christine V., Roney, Joseph C., Cullinane, Andrew R., Stephen, Joshi, Yildirimli, Deniz, Bryant, Joy, Fischer, Roxanne, Vemulapalli, Meghana, Mullikin, James C., Steinbach, Peter J., Gahl, William A., Gunay‐Aygun, Meral

“…Joubert syndrome is a ciliopathy characterized by a specific constellation of central nervous system malformations that result in the pathognomonic “molar…”
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Tu1726 Characteristics of Liver Disease and Predictors of Portal Hypertension in Patients With Joubert Syndrome by Strongin, Anna, Heller, Theo, Vilboux, Thierry, Malicdan, May, Bryant, Joy, Fischer, Roxanne, Yildirimli, Deniz, Vemulapalli, Meghana, Mullikin, James, Gahl, William, Gunay-Aygun, Meral

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