Chromosome 15q24 microdeletion syndrome

Por Magoulas Pilar L, El-Hattab Ayman W
Publicado em 2012-01-01

Chromosome 15q24 microdeletion syndrome

Por Magoulas, Pilar L, El-Hattab, Ayman W
Publicado em 2012

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management

Por Magoulas, Pilar L, El-Hattab, Ayman W
Publicado em 2012

Whole-Exome Sequencing as a diagnostic tool in a child with Atypical Episodic Muscle Weakness

Por Hanchard, Neil A., Murdock, David R., Magoulas, Pilar L., Bainbridge, Matthew, Muzny, Donna, Wu, YuanQing, Wang, Min, Lupski, James R., Gibbs, Richard A., Brown, Chester W.
Publicado em 2012

Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

Por Pierpont, Mary Ella M., Magoulas, Pilar L., Adi, Saleh, Kavamura, Maria Ines, Neri, Giovanni, Noonan, Jacqueline, Pierpont, Elizabeth I., Reinker, Kent, Roberts, Amy E., Shankar, Suma, Sullivan, Joseph, Wolford, Melinda, Conger, Brenda, Santa Cruz, Molly, Rauen, Katherine A.
Publicado em 2014

Deletion of MAP2K2/MEK2: A novel mechanism for a RASopathy?

Por Nowaczyk, Małgorzata J.M., Thompson, Brandi A., Zeesman, Susan, Moog, Ute, Sanchez-Lara, Pedro A., Magoulas, Pilar L., Falk, Rena E., Fong, Julie Hoover, Batista, Denise A.S., Amudhavalli, Shivarajan M., White, Sue M., Graham, Gail E., Rauen, Katherine A.
Publicado no Clin Genet (2013)

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome

Por Yuan, Bo, Harel, Tamar, Gu, Shen, Liu, Pengfei, Burglen, Lydie, Chantot-Bastaraud, Sandra, Gelowani, Violet, Beck, Christine R., Carvalho, Claudia M.B., Cheung, Sau Wai, Coe, Andrew, Malan, Valérie, Munnich, Arnold, Magoulas, Pilar L., Potocki, Lorraine, Lupski, James R.
Publicado no Am J Hum Genet (2015)

Adults with genetic syndromes and cardiovascular abnormalities: Clinical history and management

Por Lin, Angela E., Basson, Craig T., Goldmuntz, Elizabeth, Magoulas, Pilar L., McDermott, Deborah A., McDonald-McGinn, Donna M., McPherson, Elspeth, Morris, Colleen A., Noonan, Jacqueline, Nowak, Catherine, Pierpont, Mary Ella, Pyeritz, Reed E., Rope, Alan F., Zackai, Elaine, Pober, Barbara R.
Publicado em 2008

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

Por Ehmke, Nadja, Graul-Neumann, Luitgard, Smorag, Lukasz, Koenig, Rainer, Segebrecht, Lara, Magoulas, Pilar, Scaglia, Fernando, Kilic, Esra, Hennig, Anna F., Adolphs, Nicolai, Saha, Namrata, Fauler, Beatrix, Kalscheuer, Vera M., Hennig, Friederike, Altmüller, Janine, Netzer, Christian, Thiele, Holger, Nürnberg, Peter, Yigit, Gökhan, Jäger, Marten, Hecht, Jochen, Krüger, Ulrike, Mielke, Thorsten, Krawitz, Peter M., Horn, Denise, Schuelke, Markus, Mundlos, Stefan, Bacino, Carlos A., Bonnen, Penelope E., Wollnik, Bernd, Fischer-Zirnsak, Björn, Kornak, Uwe
Publicado no Am J Hum Genet (2017)

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Por Reijnders, Margot R.F., Zachariadis, Vasilios, Latour, Brooke, Jolly, Lachlan, Mancini, Grazia M., Pfundt, Rolph, Wu, Ka Man, van Ravenswaaij-Arts, Conny M.A., Veenstra-Knol, Hermine E., Anderlid, Britt-Marie M., Wood, Stephen A., Cheung, Sau Wai, Barnicoat, Angela, Probst, Frank, Magoulas, Pilar, Brooks, Alice S., Malmgren, Helena, Harila-Saari, Arja, Marcelis, Carlo M., Vreeburg, Maaike, Hobson, Emma, Sutton, V. Reid, Stark, Zornitza, Vogt, Julie, Cooper, Nicola, Lim, Jiin Ying, Price, Sue, Lai, Angeline Hwei Meeng, Domingo, Deepti, Reversade, Bruno, Gecz, Jozef, Gilissen, Christian, Brunner, Han G., Kini, Usha, Roepman, Ronald, Nordgren, Ann, Kleefstra, Tjitske
Publicado no Am J Hum Genet (2016)

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Por Zhang, Jing, Gambin, Tomasz, Yuan, Bo, Szafranski, Przemyslaw, Rosenfeld, Jill A., Al Balwi, Mohammed, Alswaid, Abdulrahman, Al-Gazali, Lihadh, Al Shamsi, Aisha, Komara, Makanko, Ali, Bassam R., Roeder, Elizabeth, McAuley, Laura, Roy, Daniel S., Manchester, David K., Magoulas, Pilar, King, Lauren E., Hannig, Vickie, Bonneau, Dominique, Denommé-Pichon, Anne-Sophie, Charif, Majida, Besnard, Thomas, Bézieau, Stéphane, Cogné, Benjamin, Andrieux, Joris, Zhu, Wenmiao, He, Weimin, Vetrini, Francesco, Ward, Patricia A., Cheung, Sau Wai, Bi, Weimin, Eng, Christine M., Lupski, James R., Yang, Yaping, Patel, Ankita, Lalani, Seema R., Xia, Fan, Stankiewicz, Pawel
Publicado no Hum Genet (2017)

Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

Por Lalani, Seema R., Zhang, Jing, Schaaf, Christian P., Brown, Chester W., Magoulas, Pilar, Tsai, Anne Chun-Hui, El-Gharbawy, Areeg, Wierenga, Klaas J., Bartholomew, Dennis, Fong, Chin-To, Barbaro-Dieber, Tina, Kukolich, Mary K., Burrage, Lindsay C., Austin, Elise, Keller, Kory, Pastore, Matthew, Fernandez, Fabio, Lotze, Timothy, Wilfong, Angus, Purcarin, Gabriela, Zhu, Wenmiao, Craigen, William J., McGuire, Marianne, Jain, Mahim, Cooney, Erin, Azamian, Mahshid, Bainbridge, Matthew N., Muzny, Donna M., Boerwinkle, Eric, Person, Richard E., Niu, Zhiyv, Eng, Christine M., Lupski, James R., Gibbs, Richard A., Beaudet, Arthur L., Yang, Yaping, Wang, Meng C., Xia, Fan
Publicado no Am J Hum Genet (2014)