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Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiologyREUTTER, Heiko; LIHONG QI; GEARHART, John P et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 22, pp 2751-2756, issn 1552-4825, 6 p.Article

Nafion^®-Separated Electrode Solutions in Isoelectric FocusingNAYDENOV, Cyrill L; KIRAZOV, Evgeni P; BOYADJIEV, Simeon A et al.Chromatographia (Wiesbaden). 2012, Vol 75, Num 1-2, pp 33-40, issn 0009-5893, 8 p.Article

A novel MGP mutation in a consanguineous family : Review of the clinical and molecular characteristics of keutel syndromeHUR, David J; RAYMOND, Gerald V; KAHLER, Stephen G et al.American journal of medical genetics. 2005, Vol 135A, Num 1, pp 36-40, issn 0148-7299, 5 p.Article

A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21BOYADJIEV, Simeon A; JUSTICE, Cristina M; EYAID, Wafaa et al.Human genetics. 2003, Vol 113, Num 1, pp 1-9, issn 0340-6717, 9 p.Article

OTX2 mutations contribute to the otocephaly-dysgnathia complexCHASSAING, Nicolas; SORRENTINO, Susanna; VIGOUROUX, Adeline et al.Journal of medical genetics. 2012, Vol 49, Num 6, pp 373-379, issn 0022-2593, 7 p.Article

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9JUSTICE, Cristina M; YAGNIK, Garima; KIMONIS, Virginia et al.Nature genetics. 2012, Vol 44, Num 12, pp 1360-1364, issn 1061-4036, 5 p.Article

Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patientsSARQUIS JEHEE, Fernanda; ALONSO, Luis G; PASSOS-BUENO, Maria Rita et al.The Cleft palate-craniofacial journal. 2006, Vol 43, Num 2, pp 148-151, issn 1055-6656, 4 p.Article

Candidate Gene Association Study Implicates p63 in the Etiology of Nonsyndromic Bladder-Exstrophy-Epispadias ComplexLIHONG QI; MEI WANG; REUTTER, Heiko et al.Birth defects research. Clinical and molecular teratology. 2013, Vol 97, Num 12, pp 759-763, issn 1542-0752, 5 p.Article

Clinical and molecular characterization of the bladder exstrophy-epispadias complex: analysis of 232 familiesBOYADJIEV, Simeon A; DODSON, Jennifer L; RADFORD, Cristi L et al.BJU international (Papier). 2004, Vol 94, Num 9, pp 1337-1343, issn 1464-4096, 7 p.Article

Phenotype Severity in the Bladder Exstrophy-Epispadias Complex: Analysis of Genetic and Nongenetic Contributing Factors in 441 Families from North America and EuropeREUTTER, Heiko; BOYADJIEV, Simeon A; UTSCH, Boris et al.The Journal of pediatrics. 2011, Vol 159, Num 5, pp 825-831, issn 0022-3476, 7 p.Article

Genetic Predisposition to Natural Rubber Latex Allergy Differs Between Health Care Workers and High-Risk PatientsMONITTO, Constance L; HAMILTON, Robert G; LEVEY, Eric et al.Anesthesia and analgesia. 2010, Vol 110, Num 5, pp 1310-1317, issn 0003-2999, 8 p.Article

The genetic basis of a craniofacial disease provides insight into COPII coat assemblyFROMME, J. Christopher; RAVAZZOLA, Mariella; HAMAMOTO, Susan et al.Developmental cell. 2007, Vol 13, Num 5, pp 623-636, issn 1534-5807, 14 p.Article

Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi traffickingBOYADJIEV, Simeon A; FROMME, J. Christopher; ORCI, Lelio et al.Nature genetics. 2006, Vol 38, Num 10, pp 1192-1197, issn 1061-4036, 6 p.Article

A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9BOYADJIEV, Simeon A; SOUTH, Sarah T; RADFORD, Cristi L et al.Genomics (San Diego, Calif.). 2005, Vol 85, Num 5, pp 622-629, issn 0888-7543, 8 p.Article

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasiaPAZNEKAS, William A; BOYADJIEV, Simeon A; ETHYLIN WANG JABS et al.American journal of human genetics. 2003, Vol 72, Num 2, pp 408-418, issn 0002-9297, 11 p.Article