R M Pauli

Summary

Affiliation: University of Wisconsin
Country: USA

Publications

  1. 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
  2. ncbi request reprint Jugular bulb dehiscence in achondroplasia
    R M Pauli
    Department of Medical Genetics and Pediatrics, University of Wisconsin Madison, 53705, USA
    Int J Pediatr Otorhinolaryngol 48:169-74. 1999
  3. ncbi request reprint The natural histories of bone dysplasias in adults--vignettes, fables and just-so stories
    Richard M Pauli
    University of Wisconsin Madison, Madison, WI 53705, USA
    Am J Med Genet C Semin Med Genet 145:309-21. 2007
  4. doi request reprint Stillbirth: fetal disorders
    Richard M Pauli
    Department of Pediatrics, University of Wisconsin, Madison, Wisconsin 53705, USA
    Clin Obstet Gynecol 53:646-55. 2010
  5. ncbi request reprint Ventricular noncompaction and distal chromosome 5q deletion
    R M Pauli
    Department of Pediatrics, University of Wisconsin Madison, Madison, Wisconsin 53705, USA
    Am J Med Genet 85:419-23. 1999
  6. doi request reprint A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST
    K M Panzer
    Department of Medical Genetics, University of Wisconsin Madison, Madison, WI 53705, USA
    Am J Med Genet A 146:2920-4. 2008
  7. ncbi request reprint Friedreich's ataxia associated with mitochondrial myopathy: clinicopathologic report
    Catherine L Gallagher
    Department of Neurology, University of Wisconsin, Madison, USA
    J Child Neurol 17:453-6. 2002
  8. doi request reprint Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth
    Gordana Raca
    UW Cytogenetic Services, Wisconsin State Laboratory of Hygiene, Madison, Wisconsin 53706, USA
    Am J Med Genet A 149:2437-43. 2009
  9. ncbi request reprint Microdissection-based high-resolution genomic array analysis of two patients with cytogenetically identical interstitial deletions of chromosome 1q but distinct clinical phenotypes
    G M Rice
    Departments of Pediatrics and Medical Genetics, University of Wisconsin Madison, Madison, Wisconsin, USA
    Am J Med Genet A 140:1637-43. 2006
  10. ncbi request reprint Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia
    K K Reynolds
    Department of Medical Genetics, University of Wisconsin, 1500 Highland Avenue, Madison, WI 53705, USA
    Am J Med Genet 101:40-5. 2001

Collaborators

  • Catherine L Gallagher
  • Gordana Raca
  • J Yu
  • Massimo Pandolfo
  • A J Waclawik
  • Robert Blank
  • P F Giampietro
  • Elizabeth McPherson
  • James K Burmester
  • L Faivre
  • Yanick Crow
  • A Jennifer Morton
  • Kimberly J Greer
  • Ann De Jong
  • K M Panzer
  • Nader Ghebranious
  • G M Rice
  • P Modaff
  • Cynthia F Bartels
  • Judith G Hall
  • Peter G Pryde
  • Maureen A Flynn
  • Amy L White
  • Susan Hancock
  • Scott T Michalski
  • K K Reynolds
  • Sunita Chandra
  • Rosanna Weksberg
  • R Lachman
  • Don B Singer
  • Melissa Baraboo
  • Michael K Fritsch
  • Susan J Kirkpatrick
  • Josephine Harter
  • Miranda Warren
  • William Rehrauer
  • Kristen Rasmussen
  • Jennifer Kislow
  • F Stig Jacobsen
  • Cathleen L Raggio
  • Ingrid Glurich
  • Thomas Faciszewski
  • Lynn Ivacic
  • Oheneba Boachie-Adjei
  • Z Qi
  • K Thompson
  • T Richmond
  • R Selzer
  • Sarina Kant
  • David Chitayat
  • Lihadh I Al-Gazali
  • Nancy E Braverman
  • Melissa Lees
  • Charles I Scott
  • Bernhard Zabel
  • Focco van den Akker
  • Conny van Ravenswaaij-Arts
  • Jules Leroy
  • Matthew L Warman
  • Christina Flora
  • Pius Padayatti
  • Ling Yu Shih
  • Chong Ae Kim
  • Kimi I Tanaka
  • David K Rhee
  • Trevor Cole
  • Jeremy Kirk
  • Stefan Mundlos
  • Geert R Mortier
  • Valerie Cormier-Daire
  • Hulya Bukulmez
  • Jenny Morton
  • Francesca Holland-Morris
  • Peggy Modaff
  • C Zelop
  • Peter Pryde
  • Christine Fong
  • Katharina Stewart
  • Jason Porter
  • Amy Favour
  • Jane E Brazy

Detail Information

Publications19

  1. 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...
  2. ncbi request reprint Jugular bulb dehiscence in achondroplasia
    R M Pauli
    Department of Medical Genetics and Pediatrics, University of Wisconsin Madison, 53705, USA
    Int J Pediatr Otorhinolaryngol 48:169-74. 1999
    ..It may also present as otherwise unexplained hearing loss, tinnitus and self audible bruits in these children...
  3. ncbi request reprint The natural histories of bone dysplasias in adults--vignettes, fables and just-so stories
    Richard M Pauli
    University of Wisconsin Madison, Madison, WI 53705, USA
    Am J Med Genet C Semin Med Genet 145:309-21. 2007
    ..Emphasis is placed on the difficulties intrinsic to trying to learn about needs and expectations in generally rare genetic processes...
  4. doi request reprint Stillbirth: fetal disorders
    Richard M Pauli
    Department of Pediatrics, University of Wisconsin, Madison, Wisconsin 53705, USA
    Clin Obstet Gynecol 53:646-55. 2010
    ....
  5. ncbi request reprint Ventricular noncompaction and distal chromosome 5q deletion
    R M Pauli
    Department of Pediatrics, University of Wisconsin Madison, Madison, Wisconsin 53705, USA
    Am J Med Genet 85:419-23. 1999
    ..This suggests that some instances of ventricular myocardial noncompaction may be caused by haploinsufficiency of CSX...
  6. doi request reprint A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST
    K M Panzer
    Department of Medical Genetics, University of Wisconsin Madison, Madison, WI 53705, USA
    Am J Med Genet A 146:2920-4. 2008
    ..This finding confirms that there is locus heterogeneity in apparent Desbuquois dysplasia. It also expands the phenotypic spectrum of disorders caused by mutations in DTDST...
  7. ncbi request reprint Friedreich's ataxia associated with mitochondrial myopathy: clinicopathologic report
    Catherine L Gallagher
    Department of Neurology, University of Wisconsin, Madison, USA
    J Child Neurol 17:453-6. 2002
    ..The patient also responded clinically to carnitine supplementation, suggesting a potential palliative therapy for the disease...
  8. doi request reprint Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth
    Gordana Raca
    UW Cytogenetic Services, Wisconsin State Laboratory of Hygiene, Madison, Wisconsin 53706, USA
    Am J Med Genet A 149:2437-43. 2009
    ..This preliminary study supports the clinical value of aCGH testing in diagnostic evaluation of stillborns with congenital anomalies...
  9. ncbi request reprint Microdissection-based high-resolution genomic array analysis of two patients with cytogenetically identical interstitial deletions of chromosome 1q but distinct clinical phenotypes
    G M Rice
    Departments of Pediatrics and Medical Genetics, University of Wisconsin Madison, Madison, Wisconsin, USA
    Am J Med Genet A 140:1637-43. 2006
    ..MHGA can quickly give precise and detailed information about any rearrangement in the genome using as little material as a single cell. This novel strategy provides unique advantages for both clinical diagnosis and genomic research...
  10. ncbi request reprint Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia
    K K Reynolds
    Department of Medical Genetics, University of Wisconsin, 1500 Highland Avenue, Madison, WI 53705, USA
    Am J Med Genet 101:40-5. 2001
    ..We found no correlation. These results suggest that there is no direct relationship and foraminal size does not affect severity of hypotonia. Other potential explanations for this infantile hypotonia are considered...
  11. ncbi request reprint Double heterozygosity in bone growth disorders: four new observations and review
    Maureen A Flynn
    Department of Medical Genetics, University of Wisconsin Madison, Madison, Wisconsin, USA
    Am J Med Genet A 121:193-208. 2003
    ..We document the natural history of each. The genetic processes underlying these disorders also are examined to assess whether knowledge of molecular mechanisms can be used to predict clinical severity...
  12. ncbi request reprint Prenatal diagnosis of isolated femoral bent bone skeletal dysplasia: problems in differential diagnosis and genetic counseling
    Peter G Pryde
    Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, University of Wisconsin, Meriter Hospital, 202 S Park Street, Madison, WI 53715, USA
    Am J Med Genet A 117:203-6. 2003
    ....
  13. doi request reprint Beckwith-Wiedemann syndrome in adults: observations from one family and recommendations for care
    Kimberly J Greer
    Department of Medical Genetics, University of Wisconsin Madison, Madison, Wisconsin, USA
    Am J Med Genet A 146:1707-12. 2008
    ....
  14. ncbi request reprint Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution
    Susan Hancock
    Department of Medical Genetics, University of Wisconsin Madison, Madison, Wisconsin 53705, USA
    Am J Med Genet 110:370-9. 2002
    ..Based on the evolution of clinical features in this infant, we suggest that our case, as well as that reported by Van Allen and Myhre, is an example of unusually severe Goltz syndrome...
  15. ncbi request reprint Costs and consequences of comprehensive stillbirth assessment
    Scott T Michalski
    Department of Medical Genetics, University of Wisconsin Madison, 53705, USA
    Am J Obstet Gynecol 186:1027-34. 2002
    ..The purpose of this study was to determine the consequences and costs of comprehensive stillbirth assessment...
  16. ncbi request reprint Natural history of rhizomelic chondrodysplasia punctata
    Amy L White
    Department of Medical Genetics, University of Wisconsin Madison, 53705, USA
    Am J Med Genet A 118:332-42. 2003
    ..All infants with RCP have joint contractures, bilateral cataracts, and severe growth and psychomotor delays. Recommendations for health supervision of children with RCP and for parental counseling are presented...
  17. ncbi request reprint Fraser syndrome: affected siblings born to nonconsanguineous parents and diagnosed at autopsy
    Ann De Jong
    Department of Family Medicine, University of North Dakota Minot, 1201 11th Avenue SW, Minot, ND 58701, USA
    Pediatr Dev Pathol 11:220-5. 2008
    ..This raises the possibility that other genes or undetected mutations in the FRAS1/FREM2 genes may cause Fraser syndrome...
  18. ncbi request reprint Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings
    Judith G Hall
    Department of Medical Genetics, UBC and Children s and Women s Health Centre of British Columbia Vancouver, British Columbia, Canada
    Am J Med Genet A 130:55-72. 2004
    ..These vascular changes can be life threatening, even in early years because of rupture, CNS hemorrhage, and strokes. There is variability between affected individuals even within the same family...
  19. pmc Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
    Cynthia F Bartels
    Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA
    Am J Hum Genet 75:27-34. 2004
    ..We conclude that, although NPR-B is expressed in a number of tissues, its major role is in the regulation of skeletal growth...