Anatomical Asplenia in Cat Eye Syndrome: An Expansion of the Disease Spectrum

por Chellapandian, DeepakBabu, Schneider, Adele
Publicado 2013

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

por Bardakjian, Tanya M, Schneider, Adele S, Ng, David, Johnston, Jennifer J, Biesecker, Leslie G
Publicado 2009

Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes

por Reis, Linda M., Tyler, Rebecca C., Schneider, Adele, Bardakjian, Tanya, Semina, Elena V.
Publicado 2010

ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes

por Reis, Linda M., Chassaing, Nicolas, Bardakjian, Tanya, Thompson, Samuel, Schneider, Adele, Semina, Elena V.
Publicado 2022

Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease

por Reis, Linda M., Atilla, Huban, Kannu, Peter, Schneider, Adele, Thompson, Samuel, Bardakjian, Tanya, Semina, Elena V.
Publicado 2023

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia

por Zhou, Jie, Kherani, Femida, Bardakjian, Tanya M., Katowitz, James, Hughes, Nkecha, Schimmenti, Lisa A., Schneider, Adele, Young, Terri L.
Publicado 2008

Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies

por den Hollander, Anneke I, Biyanwila, Janisha, Kovach, Peter, Bardakjian, Tanya, Traboulsi, Elias I, Ragge, Nicola K, Schneider, Adele, Malicki, Jarema
Publicado 2010

Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations

por Lopez Jimenez, Nelson, Flannick, Jason, Yahyavi, Mani, Li, Jiang, Bardakjian, Tanya, Tonkin, Leath, Schneider, Adele, Sherr, Elliott H, Slavotinek, Anne M
Publicado 2011

A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies

por Bardakjian, Tanya, Krall, Max, Wu, Di, Lao, Richard, Tang, Paul Ling-Fung, Wan, Eunice, Kopinsky, Sarina, Schneider, Adele, Kwok, Pui-yan, Slavotinek, Anne
Publicado 2017

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

por 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.
Publicado 2011

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders

por Reis, Linda M, Sorokina, Elena A, Dudakova, Lubica, Moravikova, Jana, Skalicka, Pavlina, Malinka, Frantisek, Seese, Sarah E, Thompson, Samuel, Bardakjian, Tanya, Capasso, Jenina, Allen, William, Glaser, Tom, Levin, Alex V, Schneider, Adele, Khan, Ayesha, Liskova, Petra, Semina, Elena V
Publicado 2021

A Male with Unilateral Microphthalmia Reveals a Role for TMX3 in Eye Development

por Chao, Ryan, Nevin, Linda, Agarwal, Pooja, Riemer, Jan, Bai, Xiaoyang, Delaney, Allen, Akana, Matthew, JimenezLopez, Nelson, Bardakjian, Tanya, Schneider, Adele, Chassaing, Nicolas, Schorderet, Daniel F., FitzPatrick, David, Kwok, Pui-yan, Ellgaard, Lars, Gould, Douglas B., Zhang, Yan, Malicki, Jarema, Baier, Herwig, Slavotinek, Anne
Publicado 2010

Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

por Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K., McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M., Schneider, Adele S., Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C. Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sérgio B., Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J., Gillessen-Kaesbach, Gabriele, Brunner, Han G., Wieczorek, Dagmar, van Bokhoven, Hans, FitzPatrick, David R.
Publicado 2011

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

por Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K., McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M., Schneider, Adele S., Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C. Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sérgio B., Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J., Gillessen-Kaesbach, Gabriele, Brunner, Han G., Wieczorek, Dagmar, van Bokhoven, Hans, FitzPatrick, David R.
Publicado 2018