Inactivation of Cdc42 in neural crest cells causes craniofacial and cardiovascular morphogenesis defects
Liu, Yang, Jin, Yixin, Li, Jieli, Seto, Edward, Kuo, Enoch, Yu, Wei, Schwartz, Robert J., Blazo, Maria, Zhang, Shenyuan L., Peng, Xu
Published in Developmental biology (15.11.2013)
Published in Developmental biology (15.11.2013)
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Journal Article
Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation
Shapiro, Jay R, Lietman, Caressa, Grover, Monica, Lu, James T, Nagamani, Sandesh CS, Dawson, Brian C, Baldridge, Dustin M, Bainbridge, Matthew N, Cohn, Dan H, Blazo, Maria, Roberts, Timothy T, Brennen, Feng‐Shu, Wu, Yimei, Gibbs, Richard A, Melvin, Pamela, Campeau, Philippe M, Lee, Brendan H
Published in Journal of bone and mineral research (01.07.2013)
Published in Journal of bone and mineral research (01.07.2013)
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Journal Article
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region
Berg, Jonathan S, Brunetti-Pierri, Nicola, Peters, Sarika U, Kang, Sung-Hae L, Fong, Chin-to, Salamone, Jessica, Freedenberg, Debra, Hannig, Vickie L, Prock, Lisa Albers, Miller, David T, Raffalli, Peter, Harris, David J, Erickson, Robert P, Cunniff, Christopher, Clark, Gary D, Blazo, Maria A, Peiffer, Daniel A, Gunderson, Kevin L, Sahoo, Trilochan, Patel, Ankita, Lupski, James R, Beaudet, Arthur L, Cheung, Sau Wai
Published in Genetics in medicine (01.07.2007)
Published in Genetics in medicine (01.07.2007)
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Journal Article
Congenital Lingual Hemihyperplasia, Horner's Syndrome, and Agenesis of the Internal Carotid Artery
Aceves, Jose L., MD, Kirmani, Batool, MD, Blazo, Maria, MD
Published in Pediatric neurology (01.07.2014)
Published in Pediatric neurology (01.07.2014)
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Journal Article
A Homozygous Mutation in MSH6 Causes Turcot Syndrome
HEGDE, Madhuri R, CHONG, Belinda, BLAZO, Maria E, CHIN, Lip Hon E, WARD, Patricia A, CHINTAGUMPALA, Murali M, KIM, John Y, PLAN, Sharon E, RICHARDS, C. Sue
Published in Clinical cancer research (01.07.2005)
Published in Clinical cancer research (01.07.2005)
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Journal Article
Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q
Breman, Amy M., Probst, Frank J., Blazo, Maria A., Schaaf, Christian P., Roney, Erin K., Craigen, William J., Bacino, Carlos A., Cheung, Sau Wai
Published in American journal of medical genetics. Part A (01.06.2011)
Published in American journal of medical genetics. Part A (01.06.2011)
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Journal Article
CA3-01: Family History Relationship Data in the VDW
Godwin, D., Kjar, D., Mahajan, B., Ponder, T., Robertson, A., McNeal, C., Blazo, M.
Published in Clinical medicine & research (01.08.2012)
Published in Clinical medicine & research (01.08.2012)
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Journal Article
Long QT Manifested as Giant and Inverted T Waves With a SCN5A Mutation
SUAREZ, KEITH, BLAZO, MARIA, BANCHS, JAVIER E.
Published in Journal of cardiovascular electrophysiology (01.12.2016)
Published in Journal of cardiovascular electrophysiology (01.12.2016)
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Journal Article
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Palmer, Elizabeth E, Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew H, Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S, Chedrawi, Aziza, Hashem, Mais O, Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance S, Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias B, Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda J, Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer M, Sands, Tristan T, Wilson, Golder N, Silvertooth, Erin J, Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein H, Ockeloen, Charlotte W, Pfundt, Rolph, Kroft, Sanne D, Field, Michael, Laranjeira, Francisco E R, Fortuna, Ana M, Soares, Ana R, Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David D, Bird, Lynne M, Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe M, Blazo, Maria, Bijlsma, Emilia K, Rosenfeld, Jill A, Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb S, Armstrong, Ruth, Kalscheuer, Vera M
Published in Molecular psychiatry (01.02.2023)
Published in Molecular psychiatry (01.02.2023)
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Journal Article
Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations
Schaaf, Christian P., Blazo, Maria, Lewis, Richard Alan, Tonini, Ross E., Takei, Hidehiro, Wang, Jing, Wong, Lee-Jun, Scaglia, Fernando
Published in Molecular genetics and metabolism (01.08.2011)
Published in Molecular genetics and metabolism (01.08.2011)
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Journal Article
Chronic Liver Failure and Progressive Neurologic Decline due to Mitochondrial Depletion: 765
Miller, Timothy, Sears, Dawn, Blazo, Maria
Published in The American journal of gastroenterology (01.10.2010)
Published in The American journal of gastroenterology (01.10.2010)
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Journal Article
Severe aortic root dilatation in infantile Marfan syndrome
Thomas, Renita A., Anyanwu, Chikamuche T., Blazo, Maria, Subramanian, Saradha
Published in Proceedings - Baylor University. Medical Center (02.10.2019)
Published in Proceedings - Baylor University. Medical Center (02.10.2019)
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Journal Article
Generalized metabolic bone disease in Neurofibromatosis type I
Brunetti-Pierri, Nicola, Doty, Stephen B., Hicks, John, Phan, Kelly, Mendoza-Londono, Roberto, Blazo, Maria, Tran, Alyssa, Carter, Susan, Lewis, Richard Alan, Plon, Sharon E., Phillips, William A., O’Brian Smith, E., Ellis, Kenneth J., Lee, Brendan
Published in Molecular genetics and metabolism (01.05.2008)
Published in Molecular genetics and metabolism (01.05.2008)
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Journal Article
Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM 5 Mutation
Shapiro, Jay R, Lietman, Caressa, Grover, Monica, Lu, James T, Nagamani, Sandesh CS, Dawson, Brian C, Baldridge, Dustin M, Bainbridge, Matthew N, Cohn, Dan H, Blazo, Maria, Roberts, Timothy T, Brennen, Feng-Shu, Wu, Yimei, Gibbs, Richard A, Melvin, Pamela, Campeau, Philippe M, Lee, Brendan H
Published in Journal of bone and mineral research (01.07.2013)
Published in Journal of bone and mineral research (01.07.2013)
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Journal Article
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association
Hernández-García, Andrés, Brosens, Erwin, Zaveri, Hitisha P., de Jong, Elisabeth M., Yu, Zhiyin, Namwanje, Maria, Mayle, Allison, Fernandes, Caraciolo J., Lee, Brendan, Blazo, Maria, Lalani, Seema R., Tibboel, Dick, de Klein, Annelies, Scott, Daryl A.
Published in American journal of medical genetics. Part A (01.07.2012)
Published in American journal of medical genetics. Part A (01.07.2012)
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Journal Article
Assay Validation for Identification of Hereditary Nonpolyposis Colon Cancer-Causing Mutations in Mismatch Repair Genes MLH1, MSH2, and MSH6
Hegde, Madhuri, Blazo, Maria, Chong, Belinda, Prior, Tom, Richards, Carolyn
Published in The Journal of molecular diagnostics : JMD (01.10.2005)
Published in The Journal of molecular diagnostics : JMD (01.10.2005)
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Journal Article
Pheochromocytoma and Von Hippel-Lindau in pregnancy
Kolomeyevskaya, Nonna, Blazo, Maria, Van den Veyver, Ignatia, Strehlow, Stacy, Aagaard-Tillery, Kjersti M
Published in American journal of perinatology (01.03.2010)
Published in American journal of perinatology (01.03.2010)
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Journal Article
Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy
Moretti, Paolo, Blazo, Maria, Garcia, Leonardo, Armstrong, Dawna, Lewis, Richard Alan, Roa, Benjamin, Scaglia, Fernando
Published in American journal of medical genetics. Part A (01.02.2004)
Published in American journal of medical genetics. Part A (01.02.2004)
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Journal Article