Eye Development Genes and Known Syndromes

Por Slavotinek, Anne M.
Publicado em 2011

A much needed new journal in the field of Pediatric Genetics

Por Slavotinek, Anne M.
Publicado no J Pediatr Genet (2012)

The Family of Crumbs Genes and Human Disease

Por Slavotinek, Anne M.
Publicado no Mol Syndromol (2016)

Congenital Diaphragmatic Hernia and Microtia in a Newborn with Mycophenolate Mofetil (MMF) Exposure: Phenocopy for Fryns Syndrome or Broad Spectrum of Teratogenic Effects?

Por Parisi, Melissa A., Zayed, Hatem, Slavotinek, Anne M., Rutledge, Joe C.
Publicado em 2009

A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia – evaluation of DSEL as a candidate gene for the diaphragm...

Por Zayed, Hatem, Chao, Ryan, Moshrefi, Ali, LopezJimenez, Nelson, Delaney, Allen, Chen, Justin, Shaw, Gary M., Slavotinek, Anne M.
Publicado em 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 em 2011

Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in t...

Por LopezJimenez, Nelson, Gerber, Simon D., Popovici, Vlad, Mirza, Sonia, Copren, Kirsten, Ta, Linda, Shaw, Gary M., Trueb, Beat, Slavotinek, Anne M.
Publicado em 2009

Pregnancy and Birth Outcomes among Women with Idiopathic Thrombocytopenic Purpura

Por Wyszynski, Diego F., Carman, Wendy J., Cantor, Alan B., Graham, John M., Kunz, Liza H., Slavotinek, Anne M., Kirby, Russell S., Seeger, John
Publicado no J Pregnancy (2016)

Brief Report: VAX1 mutation associated with microphthalmia, corpus callosum agenesis and orofacial clefting – the first description of a VAX1 phenotype in humans

Por Slavotinek, Anne M., Chao, Ryan, Vacik, Tomas, Yahyavi, Mani, Abouzeid, Hana, Bardakjian, Tanya, Schneider, Adele, Shaw, Gary, Sherr, Elliott H., Lemke, Greg, Youssef, Mohammed, Schorderet, Daniel F.
Publicado em 2011

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

Por Yahyavi, Mani, Abouzeid, Hana, Gawdat, Ghada, de Preux, Anne-Sophie, Xiao, Tong, Bardakjian, Tanya, Schneider, Adele, Choi, Alex, Jorgenson, Eric, Baier, Herwig, El Sada, Mohamad, Schorderet, Daniel F., Slavotinek, Anne M.
Publicado em 2013

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

Por Cafiero, Concetta, Marangi, Giuseppe, Orteschi, Daniela, Ali, Marwan, Asaro, Alessia, Ponzi, Emanuela, Moncada, Alice, Ricciardi, Stefania, Murdolo, Marina, Mancano, Giorgia, Contaldo, Ilaria, Leuzzi, Vincenzo, Battaglia, Domenica, Mercuri, Eugenio, Slavotinek, Anne M, Zollino, Marcella
Publicado no Eur J Hum Genet (2015)

DLX4 is associated with orofacial clefting and abnormal jaw development

Por Wu, Di, Mandal, Shyamali, Choi, Alex, Anderson, August, Prochazkova, Michaela, Perry, Hazel, Gil-Da-Silva-Lopes, Vera L., Lao, Richard, Wan, Eunice, Tang, Paul Ling-Fung, Kwok, Pui-yan, Klein, Ophir, Zhuan, Bian, Slavotinek, Anne M.
Publicado no Hum Mol Genet (2015)

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1

Por Slavotinek, Anne M., Mehrotra, Pavni, Nazarenko, Irina, Tang, Paul Ling-Fung, Lao, Richard, Cameron, Don, Li, Ben, Chu, Catherine, Chou, Chris, Marqueling, Ann L., Yahyavi, Mani, Cordoro, Kelly, Frieden, Ilona, Glaser, Tom, Prescott, Trine, Morren, Marie-Anne, Devriendt, Koen, Kwok, Pui-yan, Petkovich, Martin, Desnick, Robert J.
Publicado em 2013

Expansion of phenotype and genotypic data in CRB2-related syndrome

Por Lamont, Ryan E, Tan, Wen-Hann, Innes, A Micheil, Parboosingh, Jillian S, Schneidman-Duhovny, Dina, Rajkovic, Aleksandar, Pappas, John, Altschwager, Pablo, DeWard, Stephanie, Fulton, Anne, Gray, Kathryn J, Krall, Max, Mehta, Lakshmi, Rodan, Lance H, Saller, Devereux N, Steele, Deanna, Stein, Deborah, Yatsenko, Svetlana A, Bernier, François P, Slavotinek, Anne M
Publicado no Eur J Hum Genet (2016)

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

Por Slavotinek, Anne M, Baranzini, Sergio E, Schanze, Denny, Labelle-Dumais, Cassandre, Short, Kieran M, Chao, Ryan, Yahyavi, Mani, Bijlsma, Emilia K, Chu, Catherine, Musone, Stacey, Wheatley, Ashleigh, Kwok, Pui-Yan, Marles, Sandra, Fryns, Jean-Pierre, Maga, A Murat, Hassan, Mohamed G, Gould, Douglas B, Madireddy, Lohith, Li, Chumei, Cox, Timothy C, Smyth, Ian, Chudley, Albert E, Zenker, Martin
Publicado no J Med Genet (2011)

Exome Sequencing in 32 Patients with Anophthalmia/Microphthalmia and Developmental Eye Defects

Por Slavotinek, Anne M., Garcia, Sarah T., Chandratillake, Gemma, Bardakjian, Tanya, Ullah, Ehsan, Wu, Di, Umeda, Kyle, Lao, Richard, Tang, Paul Ling-Fung, Wan, Eunice, Madireddy, Lohith, Lyalina, Svetlana, Mendelsohn, Bryce A., Dugan, Sarah, Tirch, Jean, Tischler, Reana, Harris, Jason, Clark, Michael J., Chervitz, Stephen, Patwardhan, Anil, West, John M., Ursell, Phillip, de Alba Campomanes, Alejandra, Schneider, Adele, Kwok, Pui-yan, Baranzini, Sergio, Chen, Richard O.
Publicado no Clin Genet (2015)

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

Por Mefford, Heather C, Rosenfeld, Jill A, Shur, Natasha, Slavotinek, Anne M, Cox, Victoria A, Hennekam, Raoul C, Firth, Helen V, Willatt, Lionel, Wheeler, Patricia, Morrow, Eric M, Cook, Joseph, Sullivan, Rachel, Oh, Albert, McDonald, Marie T, Zonana, Jonathan, Keller, Kory, Hannibal, Mark C, Ball, Susie, Kussmann, Jennifer, Gorski, Jerome, Zelewski, Susan, Banks, Valerie, Smith, Wendy, Smith, Rosemarie, Paull, Lindsay, Rosenbaum, Kenneth N, Amor, David J, Silva, Joao, Lamb, Allen, Eichler, Evan E
Publicado em 2011