P F Giampietro

Summary

Affiliation: Marshfield Clinic
Country: USA

Publications

  1. doi request reprint Molecular diagnosis of vertebral segmentation disorders in humans
    Philip F Giampietro
    Marshfield Clinic, Department of Genetic Services, 1000 N Oak Avenue, Marshfield, WI 54449, USA 1 715 221 7410 1 715 389 4399
    Expert Opin Med Diagn 2:1107-21. 2008
  2. pmc Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations
    Nader Ghebranious
    University of Wisconsin Medical School, Madison, Wisconsin, USA and Geriatrics Research, Education, and Clinical Center, William S, Middleton Veterans Administration Medical Center, Madison, Wisconsin, USA
    Scoliosis 2:13. 2007
  3. ncbi request reprint An analysis of PAX1 in the development of vertebral malformations
    P F Giampietro
    Medical Genetic Services, Marshfield Clinic, Marshfield, WI 54449, USA
    Clin Genet 68:448-53. 2005
  4. pmc Congenital and idiopathic scoliosis: clinical and genetic aspects
    Philip F Giampietro
    Medical Genetics Services, Marshfield Clinic, Marshfield, Wisconsin 54449, USA
    Clin Med Res 1:125-36. 2003
  5. ncbi request reprint New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria
    Philip F Giampietro
    Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin, USA
    Am J Med Genet A 124:202-8. 2004
  6. ncbi request reprint Assessment of bone mineral density in adults and children with Marfan syndrome
    Philip F Giampietro
    Division of Genetics, Department of Pediatrics, Weill Medical College of Cornell University, New York, N Y, USA
    Osteoporos Int 14:559-63. 2003
  7. ncbi request reprint Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome
    P F Giampietro
    Department of Medical Genetic Services, Marshfield Clinic, Marshfield, WI, USA
    Childs Nerv Syst 22:320-4. 2006
  8. ncbi request reprint DLL3 as a candidate gene for vertebral malformations
    Philip F Giampietro
    Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin 54449, USA
    Am J Med Genet A 140:2447-53. 2006
  9. doi request reprint Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans
    Philip F Giampietro
    Department of Medical Genetic Services, Marshfield Clinic, 1000 North Oak Avenue, Marshfield, WI 54449, USA
    Ann N Y Acad Sci 1151:38-67. 2009
  10. pmc Clinical, genetic and environmental factors associated with congenital vertebral malformations
    P F Giampietro
    Department of Pediatrics, University of Wisconsin Madison, Madison, Wisc, USA
    Mol Syndromol 4:94-105. 2013

Collaborators

Detail Information

Publications24

  1. doi request reprint Molecular diagnosis of vertebral segmentation disorders in humans
    Philip F Giampietro
    Marshfield Clinic, Department of Genetic Services, 1000 N Oak Avenue, Marshfield, WI 54449, USA 1 715 221 7410 1 715 389 4399
    Expert Opin Med Diagn 2:1107-21. 2008
    ....
  2. pmc Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations
    Nader Ghebranious
    University of Wisconsin Medical School, Madison, Wisconsin, USA and Geriatrics Research, Education, and Clinical Center, William S, Middleton Veterans Administration Medical Center, Madison, Wisconsin, USA
    Scoliosis 2:13. 2007
    ..We hypothesized that WNT3A mutations might account for a subset of congenital vertebral malformations...
  3. ncbi request reprint An analysis of PAX1 in the development of vertebral malformations
    P F Giampietro
    Medical Genetic Services, Marshfield Clinic, Marshfield, WI 54449, USA
    Clin Genet 68:448-53. 2005
    ..Although each patient's mother was clinically asymptomatic and heterozygous for the respective variant allele, the possibility that these sequence variants have clinical significance is not excluded...
  4. pmc Congenital and idiopathic scoliosis: clinical and genetic aspects
    Philip F Giampietro
    Medical Genetics Services, Marshfield Clinic, Marshfield, Wisconsin 54449, USA
    Clin Med Res 1:125-36. 2003
    ..Utilizing synteny analysis of the mouse and human genetic databases, likely candidate genes for human CS and IS were identified...
  5. ncbi request reprint New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria
    Philip F Giampietro
    Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin, USA
    Am J Med Genet A 124:202-8. 2004
    ..While significant overlap exists between all four of the syndromes discussed, we believe that the constellation of anomalies observed in this girl most likely comprises a newly recognized syndrome...
  6. ncbi request reprint Assessment of bone mineral density in adults and children with Marfan syndrome
    Philip F Giampietro
    Division of Genetics, Department of Pediatrics, Weill Medical College of Cornell University, New York, N Y, USA
    Osteoporos Int 14:559-63. 2003
    ..Any application of bone mineral replacement therapy such as bisphosphonate, selective estrogen receptor modulators, hormone replacement therapy and vitamin D in these patients may be premature based on the existing evidence...
  7. ncbi request reprint Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome
    P F Giampietro
    Department of Medical Genetic Services, Marshfield Clinic, Marshfield, WI, USA
    Childs Nerv Syst 22:320-4. 2006
    ..Implementation of a ketogenic diet resulted in decreased seizure activity and an improvement in the patient's degree of social relatedness with her family members...
  8. ncbi request reprint DLL3 as a candidate gene for vertebral malformations
    Philip F Giampietro
    Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin 54449, USA
    Am J Med Genet A 140:2447-53. 2006
    ....
  9. doi request reprint Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans
    Philip F Giampietro
    Department of Medical Genetic Services, Marshfield Clinic, 1000 North Oak Avenue, Marshfield, WI 54449, USA
    Ann N Y Acad Sci 1151:38-67. 2009
    ....
  10. pmc Clinical, genetic and environmental factors associated with congenital vertebral malformations
    P F Giampietro
    Department of Pediatrics, University of Wisconsin Madison, Madison, Wisc, USA
    Mol Syndromol 4:94-105. 2013
    ....
  11. doi request reprint The role of cigarette smoking and statins in the development of postmenopausal osteoporosis: a pilot study utilizing the Marshfield Clinic Personalized Medicine Cohort
    P F Giampietro
    Marshfield Clinic, Department of Medical Genetic Services, 1000 North Oak Avenue, Marshfield, WI 54449, USA
    Osteoporos Int 21:467-77. 2010
    ..The lipoprotein receptor-related protein 5 (LRP5) gene showed association between C135242T C/T alleles and osteoporosis only in smokers, suggesting a role for environmental interaction...
  12. ncbi request reprint The incidence of protrusio acetabuli in Marfan's syndrome and its relationship to bone mineral density
    T Do
    The Hospital for Special Surgery, New York, New York, USA
    J Pediatr Orthop 20:718-21. 2000
    ..Protrusio acetabuli in Marfan syndrome's also did not correlate with clinical symptoms. Based on our results, the presence of protrusio acetabuli alone is not an indication for early surgical intervention...
  13. ncbi request reprint Marfan syndrome: orthopedic and genetic review
    Philip F Giampietro
    Division of Genetics, Department of Pediatrics, Weill Medical College of Cornell University, USA
    Curr Opin Pediatr 14:35-41. 2002
    ..Increased practitioner awareness of the clinical features associated with Marfan syndrome may facilitate earlier diagnosis and optimize patient treatment...
  14. ncbi request reprint Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome
    Douglas R Stewart
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 128:340-51. 2004
    ..2 Mb interval containing 14 known transcripts. The majority of the proximal deletion breakpoints fall within a 400 kb interval between SNP markers C12020842 proximally and C80658 distally suggesting a common breakpoint in this interval...
  15. ncbi request reprint Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24.2)]: further evidence for phenotypic heterogeneity
    Philip F Giampietro
    Am J Med Genet A 140:385-7. 2006
  16. ncbi request reprint Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study
    Arleen D Auerbach
    Laboratory of Human Genetics and Hematology, Rockefeller University, New York, New York 10021 6399, USA
    Hum Mutat 21:158-68. 2003
    ..Our data suggest that the Portuguese-Brazilian, French-Acadian, and Korean/Japanese mutations were likely to have been present in a founding member of each of these populations...
  17. ncbi request reprint Robinow syndrome with variable neurologic features
    Elizabeth McPherson
    Genet Med 8:59-60. 2006
  18. ncbi request reprint Fetal thoracic measurements in prenatal diagnosis of Jeune syndrome
    Bibhuti B Das
    Department of Pediatrics, Lincoln Medical and Mental Health Center, IL, USA
    Indian J Pediatr 69:101-3. 2002
    ..This case highlights the utility of both TC/AC and RCP/TC in diagnosis of ATD and other skeletal dysplasias associated with a small thorax...
  19. ncbi request reprint Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections
    Hariyadarshi Pannu
    Department of Internal Medicine, Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, TX, USA
    Circulation 112:513-20. 2005
    ..Having mapped a TAAD locus to 3p24-25, we sequenced the gene for transforming growth factor-beta receptor type II (TGFBR2) to determine whether mutations in this gene resulted in familial TAAD...
  20. ncbi request reprint Bile duct anomalies in a male child with Noonan syndrome: a case for ras and notch pathway synergism
    Kristen J Rasmussen
    Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin 54449, USA
    Am J Med Genet A 146:261-3. 2008
  21. ncbi request reprint Caudal regression syndrome versus sirenomelia: a case report
    Bibhuti B Das
    Department of Pediatrics, Lincoln Medical and Mental Health Center, 234 East 149th Street, The Bronx, NY 10451, USA
    J Perinatol 22:168-70. 2002
    ..Recent literature describing the etiology of sirenomelia and relationship to caudal regression syndrome is reviewed...
  22. ncbi request reprint A 20-year perspective on the International Fanconi Anemia Registry (IFAR)
    David I Kutler
    Memorial Sloan Kettering Cancer Center, New York, NY, USA
    Blood 101:1249-56. 2003
    ..The results of this study of patients registered in the IFAR over a 20-year period provide information that will enable better prediction of outcome and aid clinicians with decisions regarding major therapeutic modalities...
  23. ncbi request reprint Evaluation of SLC35A3 as a candidate gene for human vertebral malformations
    Nader Ghebranious
    Molecular Diagnostics Genotyping Laboratory, Marshfield Clinic, Marshfield, Wisconsin, USA
    Am J Med Genet A 140:1346-8. 2006
  24. ncbi request reprint Abnormal vertebral segmentation and the notch signaling pathway in man
    Peter D Turnpenny
    Clinical Genetics, Royal Devon and Exeter Hospital, and Peninsula Medical School, Exeter, United Kingdom
    Dev Dyn 236:1456-74. 2007
    ..Here, we deal mainly with SCD and AGS, and present a new classification system for AVS phenotypes, for which, hitherto, the terminology has been inconsistent and confusing...