PITX2 deficiency and associated human disease: insights from the zebrafish model von Hendee, Kathryn E, Sorokina, Elena A, Muheisen, Sanaa S, Reis, Linda M, Tyler, Rebecca C, Markovic, Vujica, Cuturilo, Goran, Link, Brian A, Semina, Elena V

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KIF11 Variants Associated With Novel Renal System Involvement-Two Cases That Expand the Phenotypic Spectrum of Microcephaly With or Without Chorioretinopathy, Lymphedema, or Impair... von Gonzalez, Tessa, Tyler, Rebecca C, Schilter, Kala F, McCarrier, Julie, Muriello, Michael, Basel, Donald, Reddi, Honey V

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Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes von Reis, Linda M., Tyler, Rebecca C., Muheisen, Sanaa, Raggio, Victor, Salviati, Leonardo, Han, Dennis P., Costakos, Deborah, Yonath, Hagith, Hall, Sarah, Power, Patricia, Semina, Elena V.

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VX-680 Inhibits Aurora A and Aurora B Kinase Activity in Human Cells von Tyler, Rebecca K., Shpiro, Natalia, Marquez, Rodolfo, Eyers, Patrick A.

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BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome von Reis, Linda M., Tyler, Rebecca C., Schilter, Kala F., Abdul-Rahman, Omar, Innis, Jeffrey W., Kozel, Beth A., Schneider, Adele S., Bardakjian, Tanya M., Lose, Edward J., Martin, Donna M., Broeckel, Ulrich, Semina, Elena V.

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A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism von Udani, Rupa, Schilter, Kala F., Tyler, Rebecca C., Smith, Brandon A., Wendt-Andrae, Jaime L., Kappes, Ulrike P., Scharer, Gunter, Lehman, Anna, Steinraths, Michelle, Reddi, Honey V.

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PITX2 and FOXC1 spectrum of mutations in ocular syndromes von REIS, Linda M, TYLER, Rebecca C, SEMINA, Elena V, KLOSS, Bethany A.volkmann, SCHILTER, Kala F, LEVIN, Alex V, LOWRY, R. Brian, ZWIJNENBURG, Petra Jg, STROH, Eliza, BROECKEL, Ulrich, MURRAY, Jeffrey C

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Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia von Schneider, Adele, Bardakjian, Tanya, Reis, Linda M., Tyler, Rebecca C., Semina, Elena V.

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P411: Customization and implementation of a tertiary analysis platform for interpretation and reporting of germline variants von Tyler, Rebecca, Nie, Qian, Gonzalez, Tessa, Schilter, Kala, Batchelor, Dana, Stoll, Kathryn, Reddi, Honey

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Long-term retinal imaging of a case of suspected congenital rubella infection von Langlo, Christopher S., Trotter, Alana, Reddi, Honey V., Schilter, Kala F., Tyler, Rebecca C., Udani, Rupa, Neitz, Maureen, Carroll, Joseph, Connor, Thomas B.

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Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract von Reis, Linda M, Tyler, Rebecca C, Semina, Elena V

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Phosphoregulation of human Mps1 kinase von Tyler, Rebecca K, Chu, Matthew L H, Johnson, Hannah, McKenzie, Edward A, Gaskell, Simon J, Eyers, Patrick A

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FOXE3 plays a significant role in autosomal recessive microphthalmia von Reis, Linda M., Tyler, Rebecca C., Schneider, Adele, Bardakjian, Tanya, Stoler, Joan M., Melancon, Serge B., Semina, Elena V.

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Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes von Reis, Linda M, Tyler, Rebecca C, Weh, Eric, Hendee, Kathryn E, Kariminejad, Ariana, Abdul-Rahman, Omar, Ben-Omran, Tawfeg, Manning, Melanie A, Yesilyurt, Ahmet, McCarty, Catherine A, Kitchner, Terrie E, Costakos, Deborah, Semina, Elena V

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VSX2 mutations in autosomal recessive microphthalmia von Reis, Linda M, Khan, Ayesha, Kariminejad, Ariana, Ebadi, Farhad, Tyler, Rebecca C, Semina, Elena V

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A genetic and molecular toolbox for analyzing histone ubiquitylation and sumoylation in yeast von Trujillo, Kelly M., Tyler, Rebecca K., Ye, Chaoyang, Berger, Shelley L., Osley, Mary Ann

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Mutation analysis of B3GALTL in Peters Plus syndrome von Reis, Linda M., Tyler, Rebecca C., Abdul-Rahman, Omar, Trapane, Pamela, Wallerstein, Robert, Broome, Diane, Hoffman, Jodi, Khan, Aneal, Paradiso, Christina, Ron, Nitin, Bergner, Amanda, Semina, Elena V.

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Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes von Reis, Linda M, Tyler, Rebecca C, Schneider, Adele, Bardakjian, Tanya, Semina, Elena V

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Describing Faces for Identification: Getting the Message, But Not The Picture von Tyler, Rebecca

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Erratam to novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia von Schneider, Adele, Bardakjian, Tanya, Reis, Linda M., Tyler, Rebecca C., Semina, Elena V.

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