Eye Development Genes and Known Syndromes

بواسطة Slavotinek, Anne M.
منشور في 2011

A much needed new journal in the field of Pediatric Genetics

بواسطة Slavotinek, Anne M.
الحاوية / القاعدة J Pediatr Genet (2012)

The Family of Crumbs Genes and Human Disease

بواسطة Slavotinek, Anne M.
الحاوية / القاعدة 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?

بواسطة Parisi, Melissa A., Zayed, Hatem, Slavotinek, Anne M., Rutledge, Joe C.
منشور في 2009

Private Payer Coverage Policies for Whole Exome Sequencing (WES) in Pediatric Patients: Trends Over Time and Analysis of Evidence Cited

بواسطة Douglas, Michael P., Parker, Stephanie L., Trosman, Julia R., Slavotinek, Anne M., Phillips, Kathryn A.
الحاوية / القاعدة Genet Med (2018)

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...

بواسطة Zayed, Hatem, Chao, Ryan, Moshrefi, Ali, LopezJimenez, Nelson, Delaney, Allen, Chen, Justin, Shaw, Gary M., Slavotinek, Anne M.
منشور في 2010

Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract

بواسطة Kuo, Debbie S., Sokol, Jared T., Minogue, Peter J., Berthoud, Viviana M., Slavotinek, Anne M., Beyer, Eric C., Gould, Douglas B.
الحاوية / القاعدة PLoS One (2017)

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

بواسطة Lopez Jimenez, Nelson, Flannick, Jason, Yahyavi, Mani, Li, Jiang, Bardakjian, Tanya, Tonkin, Leath, Schneider, Adele, Sherr, Elliott H, Slavotinek, Anne M
منشور في 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...

بواسطة LopezJimenez, Nelson, Gerber, Simon D., Popovici, Vlad, Mirza, Sonia, Copren, Kirsten, Ta, Linda, Shaw, Gary M., Trueb, Beat, Slavotinek, Anne M.
منشور في 2009

Pregnancy and Birth Outcomes among Women with Idiopathic Thrombocytopenic Purpura

بواسطة Wyszynski, Diego F., Carman, Wendy J., Cantor, Alan B., Graham, John M., Kunz, Liza H., Slavotinek, Anne M., Kirby, Russell S., Seeger, John
الحاوية / القاعدة J Pregnancy (2016)

Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population

بواسطة Islam, Farrah, Htun, Stephanie, Lai, Li-Wen, Krall, Max, Poranki, Menitha, Martin, Pierre-Marie, Sobreira, Nara, Wohler, Elizabeth S., Yu, Jingwei, Moore, Anthony T., Slavotinek, Anne M.
الحاوية / القاعدة Clin Genet (2020)

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

بواسطة 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.
منشور في 2011

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

بواسطة 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.
منشور في 2013

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

بواسطة 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
الحاوية / القاعدة Eur J Hum Genet (2015)

Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies

بواسطة Krall, Max, Htun, Stephanie, Schnur, Rhonda E., Brooks, Alice S., Baker, Laura, de Alba Campomanes, Alejandra, Lamont, Ryan E., Gripp, Karen W., Schneidman-Duhovny, Dina, Innes, A. Micheil, Mancini, Grazia M. S., Slavotinek, Anne M.
الحاوية / القاعدة Eur J Hum Genet (2019)

DLX4 is associated with orofacial clefting and abnormal jaw development

بواسطة 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.
الحاوية / القاعدة Hum Mol Genet (2015)

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

بواسطة 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.
منشور في 2013

Expansion of phenotype and genotypic data in CRB2-related syndrome

بواسطة 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
الحاوية / القاعدة Eur J Hum Genet (2016)

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

بواسطة 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
الحاوية / القاعدة J Med Genet (2011)

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis

بواسطة Sparks, Teresa N., Lianoglou, Billie R., Adami, Rebecca R., Pluym, Ilina D., Holliman, Kerry, Duffy, Jennifer, Downum, Sarah L., Patel, Sachi, Faubel, Amanda, Boe, Nina M., Field, Nancy T., Murphy, Aisling, Laurent, Louise C., Jolley, Jennifer, Uy, Cherry, Slavotinek, Anne M., Devine, Patrick, Hodoglugil, Ugur, Van Ziffle, Jessica, Sanders, Stephan J., MacKenzie, Tippi C., Norton, Mary E.
الحاوية / القاعدة N Engl J Med (2020)