Malformations of cortical development and epilepsy

por Leventer, Richard J., Guerrini, Renzo, Dobyns, William B.
Publicado 200

Reply to Hsueh YP et al.

por Nambot, Sophie, Hevner, Robert F., Dobyns, William B.
Publicado 2020

Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals

por Oegema, Renske, Barkovich, A. James, Mancini, Grazia M.S., Guerrini, Renzo, Dobyns, William B.
Publicado 2019

A developmental and genetic classification for malformations of cortical development: update 2012

por Barkovich, A. James, Guerrini, Renzo, Kuzniecky, Ruben I., Jackson, Graeme D., Dobyns, William B.
Publicado 2012

Neuropathology of brain and spinal malformations in a case of monosomy 1p36

por Shiba, Naoko, Daza, Ray AM, Shaffer, Lisa G, Barkovich, A James, Dobyns, William B, Hevner, Robert F
Publicado 2013

Semiquantitative analysis of hypothalamic damage on MRI predicts risk for hypothalamic obesity

por Roth, Christian L., Eslamy, Hedieh, Werny, David, Elfers, Clinton, Shaffer, Michele L., Pihoker, Catherine, Ojemann, Jeffrey, Dobyns, William B.
Publicado 2015

New Recessive Syndrome of Microcephaly, Cerebellar Hypoplasia, and Congenital Heart Conduction Defect

por Zaki, Maha S, Salam, Ghada M H Abdel, Saleem, Sahar N, Dobyns, William B, Issa, Mahmoud Y, Sattar, Shifteh, Gleeson, Joseph G
Publicado 2011

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1

por Brock, Stefanie, Stouffs, Katrien, Scalais, Emmanuel, D’Hooghe, Marc, Keymolen, Kathelijn, Guerrini, Renzo, Dobyns, William B., Di Donato, Nataliya, Jansen, Anna C.
Publicado 2018

PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia

por Liu, Wenying Angela, Chen, She, Li, Zhizhong, Lee, Choong Heon, Mirzaa, Ghayda, Dobyns, William B., Ross, M. Elizabeth, Zhang, Jiangyang, Shi, Song-Hai
Publicado 2018

Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations

por Zenner, Kaitlyn, Jensen, Dana M., Cook, Tori T., Dmyterko, Victoria, Bly, Randall A., Ganti, Sheila, Mirzaa, Ghayda M., Dobyns, William B., Perkins, Jonathan A., Bennett, James T.
Publicado 2020

Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms

por Haldipur, Parthiv, Dang, Derek, Aldinger, Kimberly A, Janson, Olivia K, Guimiot, Fabien, Adle-Biasette, Homa, Dobyns, William B, Siebert, Joseph R, Russo, Rosa, Millen, Kathleen J
Publicado 2017

A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism

por Kumar, Ravinesh A, Sudi, Jyotsna, Babatz, Timothy D, Brune, Camille W, Oswald, Donald, Yen, Mayon, Nowak, Norma J, Cook, Edwin H, Christian, Susan L, Dobyns, William B
Publicado 2009

Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy

por Roy, Achira, Skibo, Jonathan, Kalume, Franck, Ni, Jing, Rankin, Sherri, Lu, Yiling, Dobyns, William B, Mills, Gordon B, Zhao, Jean J, Baker, Suzanne J, Millen, Kathleen J
Publicado 2015

Microcephaly, sensorineural deafness and Currarino triad with duplication–deletion of distal 7q

por Pavone, Piero, Ruggieri, Martino, Lombardo, Ilaria, Sudi, Jyotsna, Biancheri, Roberta, Castellano-Chiodo, Danilo, Rossi, Andrea, Incorpora, Gemma, Nowak, Norma J., Christian, Susan L., Pavone, Lorenzo, Dobyns, William B.
Publicado 2009

Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia

por Smits, Daphne J., Schot, Rachel, Wilke, Martina, van Slegtenhorst, Marjon, de Wit, Marie Claire Y., Dremmen, Marjolein H.G., Dobyns, William B., Barkovich, A. James, Mancini, Grazia M.S.
Publicado 2021

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

por Paciorkowski, Alex R, Keppler-Noreuil, Kim, Robinson, Luther, Sullivan, Christopher, Sajan, Samin, Christian, Susan L, Bukshpun, Polina, Gabriel, Stacy B, Gleeson, Joseph G, Sherr, Elliott H, Dobyns, William B
Publicado 2013

Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A)

por Jayakody, Himali, Zarei, Sanam, Nguyen, Huy, Dalton, Joline, Chen, Kelly, Hudgins, Louanne, Day, John, Withrow, Kara, Pandya, Arti, Teasley, Jean, Dobyns, William B, Mathews, Katherine D, Moore, Steven A
Publicado 2020

COL4A1 Mutations Cause Ocular Dysgenesis, Neuronal Localization Defects, and Myopathy in Mice and Walker-Warburg Syndrome in Humans

por Labelle-Dumais, Cassandre, Dilworth, David J., Harrington, Emily P., de Leau, Michelle, Lyons, David, Kabaeva, Zhyldyz, Manzini, M. Chiara, Dobyns, William B., Walsh, Christopher A., Michele, Daniel E., Gould, Douglas B.
Publicado 2011

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

por Kumar, Ravinesh A., Pilz, Daniela T., Babatz, Timothy D., Cushion, Thomas D., Harvey, Kirsten, Topf, Maya, Yates, Laura, Robb, Stephanie, Uyanik, Gökhan, Mancini, Gracia M.S., Rees, Mark I., Harvey, Robert J., Dobyns, William B.
Publicado 2010

Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription

por El-Saafin, Farrah, Curry, Cynthia, Ye, Tao, Garnier, Jean-Marie, Kolb-Cheynel, Isabelle, Stierle, Matthieu, Downer, Natalie L, Dixon, Mathew P, Negroni, Luc, Berger, Imre, Thomas, Tim, Voss, Anne K, Dobyns, William, Devys, Didier, Tora, Laszlo
Publicado 2018