S A Boyadjiev

Summary

Affiliation: University of California
Country: USA

Publications

  1. ncbi request reprint Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking
    Simeon A Boyadjiev
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Nat Genet 38:1192-7. 2006
  2. ncbi request reprint Genetic analysis of non-syndromic craniosynostosis
    S A Boyadjiev
    Department of Pediatrics, University of California, Davis, Sacramento, CA 95817, USA
    Orthod Craniofac Res 10:129-37. 2007
  3. ncbi request reprint Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion
    Simeon A Boyadjiev
    Section of Genetics, Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA, USA
    Clin Genet 80:169-76. 2011
  4. ncbi request reprint Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms
    S 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
  5. ncbi request reprint Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations
    T H Beaty
    Johns Hopkins University, Baltimore, MD, USA
    Hum Genet 120:501-18. 2006
  6. ncbi request reprint Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23
    S A Boyadjiev
    Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland 21287 3914, USA
    Genomics 58:34-40. 1999
  7. pmc Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome
    R 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

Research Grants

  1. GENETIC EPIDEMIOLOGY OF CRANIOSYNOSTOSIS
    SIMEON BOYADJIEV BOYD; Fiscal Year: 2004
  2. NONSYNDROMIC CRANIOSYNOSTOSIS: PHENOTYPE/GENOTYPE STUDY
    SIMEON BOYADJIEV BOYD; Fiscal Year: 2006
  3. NONSYNDROMIC CRANIOSYNOSTOSIS: PHENOTYPE/GENOTYPE STUDY
    SIMEON BOYADJIEV BOYD; Fiscal Year: 2007
  4. Candidate Gene Analysis/Nonsyndromic Craniosynostosis
    SIMEON BOYADJIEV BOYD; Fiscal Year: 2006
  5. NONSYNDROMIC CRANIOSYNOSTOSIS: PHENOTYPE/GENOTYPE STUDY
    SIMEON BOYADJIEV BOYD; Fiscal Year: 2009
  6. NONSYNDROMIC CRANIOSYNOSTOSIS: PHENOTYPE/GENOTYPE STUDY
    SIMEON A BOYADJIEV BOYD; Fiscal Year: 2010

Detail Information

Publications7

  1. ncbi request reprint Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking
    Simeon 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...
  2. ncbi request reprint Genetic analysis of non-syndromic craniosynostosis
    S 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...
  3. ncbi request reprint Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion
    Simeon 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...
  4. ncbi request reprint Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms
    S 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...
  5. ncbi request reprint Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations
    T H Beaty
    Johns Hopkins University, Baltimore, MD, USA
    Hum Genet 120:501-18. 2006
    ....
  6. ncbi request reprint Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23
    S 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...
  7. pmc Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome
    R 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...

Research Grants7

  1. GENETIC EPIDEMIOLOGY OF CRANIOSYNOSTOSIS
    SIMEON BOYADJIEV BOYD; Fiscal Year: 2004
    ..abstract_text> ..
  2. NONSYNDROMIC CRANIOSYNOSTOSIS: PHENOTYPE/GENOTYPE STUDY
    SIMEON BOYADJIEV BOYD; Fiscal Year: 2006
    ..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. ..
  3. NONSYNDROMIC CRANIOSYNOSTOSIS: PHENOTYPE/GENOTYPE STUDY
    SIMEON BOYADJIEV BOYD; Fiscal Year: 2007
    ..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. ..
  4. Candidate Gene Analysis/Nonsyndromic Craniosynostosis
    SIMEON BOYADJIEV BOYD; Fiscal Year: 2006
    ..This new information will lead to better strategies for diagnosis and management of nonsyndromic craniosynostosis. ..
  5. NONSYNDROMIC CRANIOSYNOSTOSIS: PHENOTYPE/GENOTYPE STUDY
    SIMEON BOYADJIEV BOYD; Fiscal Year: 2009
    ..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. ..
  6. NONSYNDROMIC CRANIOSYNOSTOSIS: PHENOTYPE/GENOTYPE STUDY
    SIMEON 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. ..