Genetic advances in craniosynostosis

Por Lattanz, Wanda, Barba, Marta, Di Pietro, Lorena, Boyadjiev, Simeon A.
Publicado no Am J Med Genet A (2017)

Differential Growth Factor Adsorption to Calvarial Osteoblast-Secreted Extracellular Matrices Instructs Osteoblastic Behavior

Por Bhat, Archana, Boyadjiev, Simeon A., Senders, Craig W., Leach, J. Kent
Publicado em 2011

Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis

Por Greenwood, Jaclyn, Flodman, Pamela, Osann, Kathryn, Boyadjiev, Simeon A., Kimonis, Virginia
Publicado em 2013

MAPK/ERK Signaling Pathway Analysis in Primary Osteoblasts from Patients with Non-Syndromic Sagittal Craniosynostosis

Por Kim, Sun-Don, Yagnik, Garima, Cunningham, Michael L., Kim, Jinoh, Boyadjiev, Simeon A.
Publicado em 2013

Precision and Error of Three-dimensional Phenotypic Measures Acquired from 3dMD Photogrammetric Images

Por Aldridge, Kristina, Boyadjiev, Simeon A., Capone, George T., DeLeon, Valerie B., Richtsmeier, Joan T.
Publicado no Am J Med Genet A (2005)

New insights into the relationship between suture closure and craniofacial dysmorphology in sagittal nonsyndromic craniosynostosis

Por Heuzé, Yann, Boyadjiev, Simeon A, Marsh, Jeffrey L, Kane, Alex A, Cherkez, Elijah, Boggan, James E, Richtsmeier, Joan T
Publicado em 2010

Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1

Por Kim, Sun-Don, Liu, Jia Lie, Roscioli, Tony, Buckley, Michael F., Yagnik, Garima, Boyadjiev, Simeon A., Kim, Jinoh
Publicado em 2012

Unilateral and Bilateral Expression of a Quantitative Trait: Asymmetry and Symmetry in Coronal Craniosynostosis

Por HEUZÉ, YANN, MARTÍNEZ-ABADÍAS, NEUS, STELLA, JENNIFER M., SENDERS, CRAIG W., BOYADJIEV, SIMEON A., LO, LUN-JOU, RICHTSMEIER, JOAN T.
Publicado em 2012

The genetic basis of a craniofacial disease provides insight into COPII coat assembly

Por Fromme, J. Christopher, Ravazzola, Mariella, Hamamoto, Susan, Al-Balwi, Mohammed, Eyaid, Wafaa, Boyadjiev, Simeon A., Cosson, Pierre, Schekman, Randy, Orci, Lelio
Publicado em 2007

SEC23-SEC31 the Interface Plays Critical Role for Export of Procollagen from the Endoplasmic Reticulum

Por Kim, Sun-Don, Pahuja, Kanika Bajaj, Ravazzola, Mariella, Yoon, Joonsik, Boyadjiev, Simeon A., Hammamoto, Susan, Schekman, Randy, Orci, Lelio, Kim, Jinoh
Publicado em 2012

The SEC23-SEC31 interface plays critical role for export of procollagen from the endoplasmic reticulum.

Por Kim, Sun-Don, Bajaj Pahuja, Kanika, Ravazzola, Mariella, Yoon, Joonsik, Boyadjiev, Simeon A., Hamamoto, Susan, Schekman, Randy, Orci, Lelio, Kim, Jinoh
Publicado em 2012

Cranio-Lenticulo-Sutural Dysplasia associated with defects in collagen secretion

Por Boyadjiev, Simeon A., Kim, Sun-Don, Hata, Abigail, Haldeman-Englert, Chad, Zackai, Elaine H., Naydenov, Cyrill, Hamamoto, Susan, Schekman, Randy W., Kim, Jinoh
Publicado em 2010

Quantification of Facial Skeletal Shape Variation in Fibroblast Growth Factor Receptor-Related Craniosynostosis Syndromes

Por Heuzé, Yann, Martínez-Abadías, Neus, Stella, Jennifer M., Arnaud, Eric, Collet, Corinne, Fructuoso, Gemma García, Alamar, Mariana, Lo, Lun-Jou, Boyadjiev, Simeon A., Di Rocco, Federico, Richtsmeier, Joan T.
Publicado em 2014

Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

Por Paznekas, William A., Boyadjiev, Simeon A., Shapiro, Robert E., Daniels, Otto, Wollnik, Bernd, Keegan, Catherine E., Innis, Jeffrey W., Dinulos, Mary Beth, Christian, Cathy, Hannibal, Mark C., Jabs, Ethylin Wang
Publicado em 2003

ALX4 gain-of-function mutations in non-syndromic craniosynostosis

Por Yagnik, Garima, Ghuman, Apar, Kim, Sundon, Stevens, Cristina G., Kimonis, Virginia, Stoler, Joan, Sanchez-Lara, Pedro, Bernstein, Jonathan, Naydenov, Cyril, Drissi, Hicham, Cunningham, Michael L., Kim, Jinoh, Boyadjiev, Simeon A.
Publicado em 2012

Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome

Por Glaser, Rivka L., Jiang, Wen, Boyadjiev, Simeon A., Tran, Alissa K., Zachary, Andrea A., Van Maldergem, Lionel, Johnson, David, Walsh, Sinead, Oldridge, Michael, Wall, Steven A., Wilkie, Andrew O. M., Jabs, Ethylin Wang
Publicado em 2000

Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

Por Garbes, Lutz, Kim, Kyungho, Rieß, Angelika, Hoyer-Kuhn, Heike, Beleggia, Filippo, Bevot, Andrea, Kim, Mi Jeong, Huh, Yang Hoon, Kweon, Hee-Seok, Savarirayan, Ravi, Amor, David, Kakadia, Purvi M., Lindig, Tobias, Kagan, Karl Oliver, Becker, Jutta, Boyadjiev, Simeon A., Wollnik, Bernd, Semler, Oliver, Bohlander, Stefan K., Kim, Jinoh, Netzer, Christian
Publicado no Am J Hum Genet (2015)

Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency

Por Valayannopoulos, Vassili, Malinova, Vera, Honzík, Tomas, Balwani, Manisha, Breen, Catherine, Deegan, Patrick B., Enns, Gregory M., Jones, Simon A., Kane, John P., Stock, Eveline O., Tripuraneni, Radhika, Eckert, Stephen, Schneider, Eugene, Hamilton, Gavin, Middleton, Michael S., Sirlin, Claude, Kessler, Bruce, Bourdon, Christopher, Boyadjiev, Simeon A., Sharma, Reena, Twelves, Chris, Whitley, Chester B., Quinn, Anthony G.
Publicado em 2014

Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

Por Vissers, Lisenka E. L. M., Cox, Timothy C., Maga, A. Murat, Short, Kieran M., Wiradjaja, Fenny, Janssen, Irene M., Jehee, Fernanda, Bertola, Debora, Liu, Jia, Yagnik, Garima, Sekiguchi, Kiyotoshi, Kiyozumi, Daiji, van Bokhoven, Hans, Marcelis, Carlo, Cunningham, Michael L., Anderson, Peter J., Boyadjiev, Simeon A., Passos-Bueno, Maria Rita, Veltman, Joris A., Smyth, Ian, Buckley, Michael F., Roscioli, Tony
Publicado em 2011

Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic- and non-genetic contributing factors in 441 families from North America and Europe

Por Reutter, Heiko, Boyadjiev, Simeon A., Gambhir, Lisa, Ebert, Anne-Karoline, Rösch, Wolfgang H., Stein, Raimund, Schröder, Annette, Boemers, Thomas M., Bartels, Enrika, Vogt, Hannes, Utsch, Boris, Müller, Martin, Detlefsen, Birte, Zwink, Nadine, Rogenhofer, Sebastian, Gobet, Rita, Beckers, Goedele M.A, Bökenkamp, Arend, Kajbafzadeh, Abdol-Mohammad, Jaureguizar, Enrique, Draaken, Markus, Lakshmanan, Yegappan, Gearhart, John P., Ludwig, Michael, Nöthen, Markus M., Jenetzky, Ekkehart
Publicado em 2011