Search Results - "Madireddy, L."

Paternal transmission of MTHFD1 G1958A variant predisposes to neural tube defects in the offspring by Prasoona, Kattekola R, Sunitha, Tella, Srinadh, Buragadda, Deepika, Madireddy L N, Kumari, Tiruvatturu M, Jyothy, Akka

“…Aim This study aimed to evaluate the role of methylenetetrahydrofolate dehydrogenase (MTHFD1) G1958A variant (rs2236225) as a ‘maternal, paternal, or…”
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Genetic associations with brain cortical thickness in multiple sclerosis by Matsushita, T., Madireddy, L., Sprenger, T., Khankhanian, P., Magon, S., Naegelin, Y., Caverzasi, E., Lindberg, R. L. P., Kappos, L., Hauser, S. L., Oksenberg, J. R., Henry, R., Pelletier, D., Baranzini, S. E.

“…Multiple sclerosis (MS) is characterized by temporal and spatial dissemination of demyelinating lesions in the central nervous system. Associated…”
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Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1 by 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

“…Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare condition defined by eyelid colobomas, cryptophthalmos and anophthalmia/microphthalmia, an aberrant…”
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Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia by Ullah, E, Wu, D, Madireddy, L, Lao, R, Ling-Fung Tang, P, Wan, E, Bardakjian, T, Kopinsky, S, Kwok, P-Y, Schneider, A, Baranzini, S, Ansar, M, Slavotinek, A

“…To investigate the genetic etiology of anophthalmia and microphthalmia, we used exome sequencing in a Caucasian female with unilateral microphthalmia and…”
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Paternal transmission of MTHFD 1 G1958A variant predisposes to neural tube defects in the offspring by Prasoona, Kattekola R, Sunitha, Tella, Srinadh, Buragadda, Deepika, Madireddy L N, Kumari, Tiruvatturu M, Jyothy, Akka

“…Aim This study aimed to evaluate the role of methylenetetrahydrofolate dehydrogenase ( MTHFD 1 ) G1958A variant (rs2236225) as a ‘maternal, paternal, or…”
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Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects by Slavotinek, A.M., Garcia, S.T., Chandratillake, G., Bardakjian, T., Ullah, E., Wu, D., Umeda, K., Lao, R., Tang, P.L.-F., Wan, E., Madireddy, L., Lyalina, S., Mendelsohn, B.A., Dugan, S., Tirch, J., Tischler, R., Harris, J., Clark, M.J., Chervitz, S., Patwardhan, A., West, J.M., Ursell, P., de Alba Campomanes, A., Schneider, A., Kwok, P.-y., Baranzini, S., Chen, R.O.

“…Anophthalmia/microphthalmia (A/M) is a genetically heterogeneous birth defect for which the etiology is unknown in more than 50% of patients. We used exome…”
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A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis (vol 10, 2236, 2019) by Madireddy, L, Patsopoulos, NA, Cotsapas, C, Bos, SD, Beecham, A, McCauley, J, Kim, K, Jia, X, Santaniello, A, Caillier, SJ

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Meta-analysis of genome-wide association studies reveals genetic overlap between Hodgkin lymphoma and multiple sclerosis by Khankhanian, Pouya, Cozen, Wendy, Himmelstein, Daniel S, Madireddy, Lohith, Din, Lennox, van den Berg, Anke, Matsushita, Takuya, Glaser, Sally L, Moré, Jayaji M, Smedby, Karin E, Baranzini, Sergio E, Mack, Thomas M, Lizée, Antoine, de Sanjosé, Silvia, Gourraud, Pierre-Antoine, Nieters, Alexandra, Hauser, Stephen L, Cocco, Pierluigi, Maynadié, Marc, Foretová, Lenka, Staines, Anthony, Delahaye-Sourdeix, Manon, Li, Dalin, Bhatia, Smita, Melbye, Mads, Onel, Kenan, Jarrett, Ruth, McKay, James D, Oksenberg, Jorge R, Hjalgrim, Henrik

“…Based on epidemiological commonalities, multiple sclerosis (MS) and Hodgkin lymphoma (HL), two clinically distinct conditions, have long been suspected to be…”
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Association of Targeted Blood Biomarkers with Interferon Beta-1a Treatment Administration, Magnetic Resonance Imaging Activity, and Treatment Response (P02.089) by Cree, B., Madireddy, L., De Stefano, N., Caillier, S., Stromillo, M. L., Battaglini, M., Monet, E., Cromer, A., D'Antonio, M., Farmer, P., Lehr, L., Beelke, M., Baranzini, S.

“…Abstract only…”
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Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia by Ullah, E., Wu, D., Madireddy, L., Lao, R., Ling-Fung Tang, P., Wan, E., Bardakjian, T., Kopinsky, S., Kwok, P.-Y., Schneider, A., Baranzini, S., Ansar, M., Slavotinek, A.

“…To investigate the genetic etiology of anophthalmia and microphthalmia, we used exome sequencing in a Caucasian female with unilateral microphthalmia and…”
Get full text