Genetic advances in craniosynostosis

Tekijä Lattanz, Wanda, Barba, Marta, Di Pietro, Lorena, Boyadjiev, Simeon A.
Julkaisussa Am J Med Genet A (2017)

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

Tekijä Bhat, Archana, Boyadjiev, Simeon A., Senders, Craig W., Leach, J. Kent
Julkaistu 2011

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

Tekijä Greenwood, Jaclyn, Flodman, Pamela, Osann, Kathryn, Boyadjiev, Simeon A., Kimonis, Virginia
Julkaistu 2013

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

Tekijä Kim, Sun-Don, Yagnik, Garima, Cunningham, Michael L., Kim, Jinoh, Boyadjiev, Simeon A.
Julkaistu 2013

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

Tekijä Aldridge, Kristina, Boyadjiev, Simeon A., Capone, George T., DeLeon, Valerie B., Richtsmeier, Joan T.
Julkaisussa Am J Med Genet A (2005)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

A Variant Associated with Sagittal Nonsyndromic Craniosynostosis Alters the Regulatory Function of a Non-Coding Element

Tekijä Justice, Cristina M., Kim, Jinoh, Kim, Sun-Don, Kim, Kyunhgho, Yagnik, Garima, Cuellar, Araceli, Carrington, Blake, Lu, Chung-Ling, Sood, Raman, Boyadjiev, Simeon A., Wilson, Alexander F.
Julkaisussa Am J Med Genet A (2017)

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

Tekijä 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.
Julkaistu 2014

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

Tekijä 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
Julkaistu 2003

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

Tekijä 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.
Julkaistu 2012

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

Tekijä 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
Julkaistu 2000

Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis

Tekijä Cuellar, Araceli, Bala, Krithi, Di Pietro, Lorena, Barba, Marta, Yagnik, Garima, Liu, Jia Lie, Stevens, Christina, Hur, David J., Ingersoll, Roxann G., Justice, Cristina M., Drissi, Hicham, Kim, Jinoh, Lattanzi, Wanda, Boyadjiev, Simeon A.
Julkaisussa Bone (2020)

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

Tekijä 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
Julkaisussa 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

Tekijä 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.
Julkaistu 2014