Genomes and Genes
S A Boyadjiev
Affiliation: University of California
- Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi traffickingSimeon A Boyadjiev
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Nat Genet 38:1192-7. 2006..Our observations suggest that disrupted endoplasmic reticulum export of the secretory proteins required for normal morphogenesis accounts for CLSD...
- Genetic analysis of non-syndromic craniosynostosisS A Boyadjiev
Department of Pediatrics, University of California, Davis, Sacramento, CA 95817, USA
Orthod Craniofac Res 10:129-37. 2007..This review summarizes the available knowledge on NSC and presents a systematic approach aimed at the identification of genetic and non-genetic factors contributing to the risk of this common craniofacial defect...
- Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretionSimeon A Boyadjiev
Section of Genetics, Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA, USA
Clin Genet 80:169-76. 2011..Our data suggest that defective ER export is the cause of CLSD and genetic element(s) besides SEC23A may influence its presentation...
- Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphismsS A Boyadjiev
McKusick Nathans Institute of Genetic Medicine, Center for Craniofacial Development and Disorders, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
Cytogenet Genome Res 98:29-37. 2002..These clones and polymorphisms will assist in the further characterization of this region and identification of disease genes...
- Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populationsT H Beaty
Johns Hopkins University, Baltimore, MD, USA
Hum Genet 120:501-18. 2006....
- Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23S A Boyadjiev
Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland 21287 3914, USA
Genomics 58:34-40. 1999..01 (male) to 2.87 (female) cM. The strongest linkage was to DNA marker D6S433 (Zmax = 8.96, thetamax = 0.001). Families show significant linkage to chromosome 6q22-q23 and no evidence for genetic heterogeneity...
- Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndromeR L Glaser
Department of Pediatrics, Center for Craniofacial Development and Disorders, McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
Am J Hum Genet 66:768-77. 2000..Our results suggest that older men either have accumulated or are more susceptible to a variety of germline mutations...
- GENETIC EPIDEMIOLOGY OF CRANIOSYNOSTOSISSIMEON BOYADJIEV BOYD; Fiscal Year: 2004..abstract_text> ..
- NONSYNDROMIC CRANIOSYNOSTOSIS: PHENOTYPE/GENOTYPE STUDYSIMEON A BOYADJIEV BOYD; Fiscal Year: 2010..In addition, we will also identify genes associated with sagittal NSC. The resources that we have amassed and the collaborative and integrated approaches that we will utilize put us in a unique position to accomplish these aims. ..