A case of familial isolated hemihyperplasia

Por Heilstedt, Heidi A, Bacino, Carlos A
Publicado em 2004

WDR35 Mutation in Siblings with Sensenbrenner Syndrome: A Ciliopathy With Variable Phenotype

Por Bacino, Carlos A., Dhar, Shweta U., Brunetti-Pierri, Nicola, Lee, Brendan, Bonnen, Penelope E.
Publicado em 2012

Terminal Osseous Dysplasia with Pigmentary Defects Maps to Human Chromosome Xq27.3-Xqter

Por Zhang, Wenzheng, Amir, Ruthie, Stockton, David W., Van den Veyver, Ignatia B., Bacino, Carlos A., Zoghbi, Huda Y.
Publicado em 2000

Terminal Osseous Dysplasia With Pigmentary Defects (TODPD): Follow-Up of the First Reported Family, Characterization of the Radiological Phenotype, and Refinement of the Linkage Re...

Por Brunetti-Pierri, Nicola, Lachman, Ralph, Lee, Kwanghyuk, Leal, Suzanne M., Piccolo, Pasquale, Van den Veyver, Ignatia B., Bacino, Carlos A.
Publicado em 2010

A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey

Por Bacino, Carlos A., Chao, Yu-Hsin, Seto, Elaine, Lotze, Tim, Xia, Fan, Jones, Richard O., Moser, Ann, Wangler, Michael F.
Publicado no Mol Genet Metab Rep (2015)

Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation

Por Brunetti-Pierri, Nicola, Torrado, Maria, Fernandez, Maria del Carmen, Tello, Ana Maria, Arberas, Claudia L, Cardinale, Antonella, Piccolo, Pasquale, Bacino, Carlos A
Publicado no Mol Genet Genomic Med (2014)

Identification of Complex Chromosome 18 Rearrangements by FISH and Array CGH in Two Patients With Apparent Isochromosome 18q

Por Breman, Amy M., Probst, Frank J., Blazo, Maria A., Schaaf, Christian P., Roney, Erin K., Craigen, William J., Bacino, Carlos A., Cheung, Sau Wai
Publicado em 2011

Early Childhood Presentation of Czech Dysplasia

Por Burrage, Lindsay C., Lu, James T., Liu, David S., Moss, Timothy J., Gibbs, Richard, Schlesinger, Alan E., Bacino, Carlos A., Campeau, Philippe M., Lee, Brendan H.
Publicado em 2013

Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila

Por Chao, Yu-Hsin, Robak, Laurie A., Xia, Fan, Koenig, Mary K., Adesina, Adekunle, Bacino, Carlos A., Scaglia, Fernando, Bellen, Hugo J., Wangler, Michael F.
Publicado no Hum Mol Genet (2016)

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia

Por Schaaf, Christian P, Goin-Kochel, Robin P, Nowell, Kerri P, Hunter, Jill V, Aleck, Kirk A, Cox, Sarah, Patel, Ankita, Bacino, Carlos A, Shinawi, Marwan
Publicado em 2011

Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome

Por Heilstedt, Heidi A., Ballif, Blake C., Howard, Leslie A., Lewis, Richard A., Stal, Samuel, Kashork, Catherine D., Bacino, Carlos A., Shapira, Stuart K., Shaffer, Lisa G.
Publicado em 2003

Alterations in white matter pathways in Angelman syndrome

Por PETERS, SARIKA U, KAUFMANN, WALTER E, BACINO, CARLOS A, ANDERSON, ADAM W, ADAPA, PAVANI, CHU, ZILI, YALLAMPALLI, RAGINI, TRAIPE, ELFRIDES, HUNTER, JILL V, WILDE, ELISABETH A
Publicado em 2010

SNP genotyping to screen for a common deletion in CHARGE Syndrome

Por Lalani, Seema R, Safiullah, Arsalan M, Fernbach, Susan D, Phillips, Michael, Bacino, Carlos A, Molinari, Laura M, Glass, Nancy L, Towbin, Jeffrey A, Craigen, William J, Belmont, John W
Publicado em 2005

Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency

Por Moretti, Paolo, Peters, Sarika U., del Gaudio, Daniela, Sahoo, Trilochan, Hyland, Keith, Bottiglieri, Teodoro, Hopkin, Robert J., Peach, Elizabeth, Min, Sang Hee, Goldman, David, Roa, Benjamin, Bacino, Carlos A., Scaglia, Fernando
Publicado em 2007

Lysinuric protein intolerance presenting with multiple fractures

Por Posey, Jennifer E., Burrage, Lindsay C., Miller, Marcus J., Liu, Pengfei, Hardison, Matthew T., Elsea, Sarah H., Sun, Qin, Yang, Yaping, Willis, Alecia S., Schlesinger, Alan E., Bacino, Carlos A., Lee, Brendan H.
Publicado no Mol Genet Metab Rep (2014)

Whole-Exome Sequencing Reveals GPIHBP1 Mutations in Infantile Colitis With Severe Hypertriglyceridemia

Por Gonzaga-Jauregui, Claudia, Mir, Sabina, Penney, Samantha, Jhangiani, Shalini, Midgen, Craig, Finegold, Milton, Muzny, Donna M., Wang, Min, Bacino, Carlos A., Gibbs, Richard A., Lupski, James R., Kellermayer, Richard, Hanchard, Neil A.
Publicado em 2014

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

Por Willemsen, Marjolein H, Fernandez, Bridget A, Bacino, Carlos A, Gerkes, Erica, de Brouwer, Arjan PM, Pfundt, Rolph, Sikkema-Raddatz, Birgit, Scherer, Stephen W, Marshall, Christian R, Potocki, Lorraine, van Bokhoven, Hans, Kleefstra, Tjitske
Publicado em 2010

Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications

Por Szafranski, Przemyslaw, Golla, Sailaja, Jin, Weihong, Fang, Ping, Hixson, Patricia, Matalon, Reuben, Kinney, Daniel, Bock, Hans-georg, Craigen, William, Smith, Janice L, Bi, Weimin, Patel, Ankita, Wai Cheung, Sau, Bacino, Carlos A, Stankiewicz, Paweł
Publicado no Eur J Hum Genet (2015)

Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

Por Roelfsema, Jeroen H., White, Stefan J., Ariyürek, Yavuz, Bartholdi, Deborah, Niedrist, Dunja, Papadia, Francesco, Bacino, Carlos A., den Dunnen, Johan T., van Ommen, Gert-Jan B., Breuning, Martijn H., Hennekam, Raoul C., Peters, Dorien J. M.
Publicado em 2005

Insertional Translocation Detected Using FISH Confirmation of Array-Comparative Genomic Hybridization (aCGH) Results

Por Kang, Sung-Hae L., Shaw, Chad, Ou, Zhishuo, Eng, Patricia A., Cooper, M. Lance, Pursley, Amber N., Sahoo, Trilochan, Bacino, Carlos A., Chinault, A. Craig, Stankiewicz, Pawel, Patel, Ankita, Lupski, James R., Cheung, Sau Wai
Publicado em 2010