Sibel Kantarci

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. ncbi Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy
    Sibel Kantarci
    Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, Massachusetts, USA
    Am J Med Genet A 146:1842-7. 2008
  2. ncbi Reporting of diagnostic cytogenetic results
    Azra H Ligon
    Brigham and Women s Hospital, Boston, Massachusetts, USA
    Curr Protoc Hum Genet . 2011
  3. ncbi Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
    Sibel Kantarci
    Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Simches Research Building, 185 Cambridge St, Boston, Massachusetts 02114 USA
    Nat Genet 39:957-9. 2007
  4. ncbi Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH
    Sibel Kantarci
    Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
    Am J Med Genet A 152:2493-504. 2010
  5. ncbi Human endometrial cells express elevated levels of pluripotent factors and are more amenable to reprogramming into induced pluripotent stem cells
    Joo Hyun Park
    Vincent Center of Reproductive Biology Their 931, Department of Obstetrics and Gynecology, Massachusetts General Hospital and Harvard Medical School, 55 Fruit Street, Boston, Massachusetts 02114, USA
    Endocrinology 152:1080-9. 2011
  6. ncbi Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics
    Sibel Kantarci
    Peadiatric Surgical Research Laboratories at Massachusetts General Hospital, Boston, MA 02114, USA
    Am J Med Genet C Semin Med Genet 145:217-26. 2007
  7. ncbi Reporting of diagnostic cytogenetic results
    Azra H Ligon
    Brigham and Women s Hospital, Boston, Massachusetts, USA
    Curr Protoc Hum Genet . 2010

Detail Information

Publications7

  1. ncbi Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy
    Sibel Kantarci
    Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, Massachusetts, USA
    Am J Med Genet A 146:1842-7. 2008
    ..This report highlights the importance of parental genotyping in order to give accurate genetic counseling for autosomal recessive disorders...
  2. ncbi Reporting of diagnostic cytogenetic results
    Azra H Ligon
    Brigham and Women s Hospital, Boston, Massachusetts, USA
    Curr Protoc Hum Genet . 2011
    ..Multi-specimen usage macros are included that can be applied to two or more specimen types...
  3. ncbi Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
    Sibel Kantarci
    Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Simches Research Building, 185 Cambridge St, Boston, Massachusetts 02114 USA
    Nat Genet 39:957-9. 2007
    ..LRP2 encodes megalin, a multiligand uptake receptor that regulates levels of diverse circulating compounds. This work implicates a pathway with potential pharmacological therapeutic targets...
  4. ncbi Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH
    Sibel Kantarci
    Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
    Am J Med Genet A 152:2493-504. 2010
    ....
  5. ncbi Human endometrial cells express elevated levels of pluripotent factors and are more amenable to reprogramming into induced pluripotent stem cells
    Joo Hyun Park
    Vincent Center of Reproductive Biology Their 931, Department of Obstetrics and Gynecology, Massachusetts General Hospital and Harvard Medical School, 55 Fruit Street, Boston, Massachusetts 02114, USA
    Endocrinology 152:1080-9. 2011
    ....
  6. ncbi Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics
    Sibel Kantarci
    Peadiatric Surgical Research Laboratories at Massachusetts General Hospital, Boston, MA 02114, USA
    Am J Med Genet C Semin Med Genet 145:217-26. 2007
    ..More important, the elucidation of pathways may ultimately provide clues to treatment strategies...
  7. ncbi Reporting of diagnostic cytogenetic results
    Azra H Ligon
    Brigham and Women s Hospital, Boston, Massachusetts, USA
    Curr Protoc Hum Genet . 2010
    ..Multi-specimen usage macros are included that can be applied to two or more specimen types...