D W Stockton

Summary

Affiliation: Texas Medical Center
Country: USA

Publications

  1. ncbi request reprint Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome
    D W Stockton
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Arch Neurol 58:1635-7. 2001
  2. ncbi request reprint Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2
    Katerina Jedlickova
    MS 525D Texas Medical Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Blood Cells Mol Dis 31:327-31. 2003
  3. ncbi request reprint A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A
    Yong hui Jiang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 131:1-10. 2004
  4. ncbi request reprint Expanding the phenotype of alveolar capillary dysplasia (ACD)
    Partha Sen
    Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA
    J Pediatr 145:646-51. 2004
  5. pmc Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS
    Roberto Mendoza-Londono
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 77:161-8. 2005
  6. ncbi request reprint Recurrent biparental hydatidiform mole: additional evidence for a 1.1-Mb locus in 19q13.4 and candidate gene analysis
    Prisana C Panichkul
    Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA
    J Soc Gynecol Investig 12:376-83. 2005
  7. ncbi request reprint Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle
    Debra A Thompson
    Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor 48105, USA, and Unidad de Genética Médica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocio, Seville, Spain
    Hum Mol Genet 14:3865-75. 2005
  8. ncbi request reprint Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities
    Carla Bidinost
    Health Research and Education Center, Washington State University Spokane, Spokane, Washington, USA
    Invest Ophthalmol Vis Sci 47:1274-80. 2006
  9. ncbi request reprint Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans
    Carla Bidinost
    Health Research and Education Center, Washington State University Spokane, Spokane, Washington 99210 1495, USA
    Invest Ophthalmol Vis Sci 47:1486-90. 2006
  10. ncbi request reprint The worldwide distribution of the VHL 598C>T mutation indicates a single founding event
    Enli Liu
    Baylor College of Medicine and Veterans Affairs Medical Center, Houston, TX, USA
    Blood 103:1937-40. 2004

Collaborators

Detail Information

Publications23

  1. ncbi request reprint Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome
    D W Stockton
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Arch Neurol 58:1635-7. 2001
    ..Carpal tunnel syndrome is a debilitating neuropathy affecting millions of individuals. Although there are published reports of familial associations of carpal tunnel syndrome, the molecular mechanisms are unknown...
  2. ncbi request reprint Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2
    Katerina Jedlickova
    MS 525D Texas Medical Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Blood Cells Mol Dis 31:327-31. 2003
    ..We identified a region in 7q22.1-7q22.2 with a suggestive LOD score of 1.84, from our data this is the most likely location of a candidate region responsible for PFCP in this family...
  3. ncbi request reprint A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A
    Yong hui Jiang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 131:1-10. 2004
    ..A mixed epigenetic and genetic and mixed de novo and inherited (MEGDI) model could be relevant to other "complex disease traits"...
  4. ncbi request reprint Expanding the phenotype of alveolar capillary dysplasia (ACD)
    Partha Sen
    Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA
    J Pediatr 145:646-51. 2004
    ..To define the phenotype of congenital alveolar capillary dysplasia (ACD) as a first step toward mapping the responsible gene(s)...
  5. pmc Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS
    Roberto Mendoza-Londono
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 77:161-8. 2005
    ..We hypothesize that the gene defect in this condition causes novel context-dependent dysregulation of multiple signaling pathways, including RUNX2, during osteoblast differentiation and craniofacial morphogenesis...
  6. ncbi request reprint Recurrent biparental hydatidiform mole: additional evidence for a 1.1-Mb locus in 19q13.4 and candidate gene analysis
    Prisana C Panichkul
    Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA
    J Soc Gynecol Investig 12:376-83. 2005
    ..To confirm and possibly narrow the critical interval we studied additional rare familial and recurrent cases...
  7. ncbi request reprint Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle
    Debra A Thompson
    Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor 48105, USA, and Unidad de Genética Médica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocio, Seville, Spain
    Hum Mol Genet 14:3865-75. 2005
    ..Haplotype analysis in the family in which LCA3 was mapped excluded RDH12 as the LCA3 gene and thus suggests the presence of a novel arRD gene in this region...
  8. ncbi request reprint Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities
    Carla Bidinost
    Health Research and Education Center, Washington State University Spokane, Spokane, Washington, USA
    Invest Ophthalmol Vis Sci 47:1274-80. 2006
    ..Also studied were two siblings who were homozygous for the PITX3 mutation who had microphthalmia and significant neurologic impairment...
  9. ncbi request reprint Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans
    Carla Bidinost
    Health Research and Education Center, Washington State University Spokane, Spokane, Washington 99210 1495, USA
    Invest Ophthalmol Vis Sci 47:1486-90. 2006
    ..In the current study, tyrosinase (TYR) was investigated in human PCG...
  10. ncbi request reprint The worldwide distribution of the VHL 598C>T mutation indicates a single founding event
    Enli Liu
    Baylor College of Medicine and Veterans Affairs Medical Center, Houston, TX, USA
    Blood 103:1937-40. 2004
    ..Haplotype analysis indicated a founder effect. We conclude that the VHL 598C>T mutation, the most common defect of congenital polycythemia yet found, was spread from a single founder 1,000 to 62,000 years ago...
  11. ncbi request reprint Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions
    Seema R Lalani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 118:260-6. 2003
    ..This screen sets upper limits on the length of a CHARGE-related microdeletion, should that be the genetic mechanism underlying the phenotype...
  12. ncbi request reprint Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia
    Cornelius F Boerkoel
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 30:215-20. 2002
    ..These observations indicate that some missense mutations allow retention of partial SMARCAL1 function and thus cause milder disease...
  13. ncbi request reprint Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia
    Sonny O Ang
    Department of Medicine, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 32:614-21. 2002
    ....
  14. pmc Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1
    Erica R Eichers
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Am J Hum Genet 70:955-64. 2002
    ..This difference may account for the severe phenotype in these families and exemplifies the molecular continuum that underlies clinically distinct but genetically related entities...
  15. ncbi request reprint Functional genetic analysis of mouse chromosome 11
    Benjamin T Kile
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    Nature 425:81-6. 2003
    ..The mutations reveal new defects in haematopoiesis, craniofacial and cardiovascular development, and fertility...
  16. ncbi request reprint Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity
    Erica R Eichers
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza Room 604B, Houston, TX 77030, USA
    Hum Genet 120:211-26. 2006
    ..Evaluations of these null mice have uncovered phenotypic features with age-dependent penetrance and variable expressivity, partially recapitulating the human BBS phenotype...
  17. ncbi request reprint Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia
    Parimal Das
    Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Genet 110:371-6. 2002
    ..PAX9 is one of two genes, and the only odontogenic gene within the deletion interval, thus supporting the model of haploinsufficiency for PAX9 as the underlying basis for hypodontia...
  18. ncbi request reprint Endemic polycythemia in Russia: mutation in the VHL gene
    Sonny O Ang
    Department of Medicine, Baylor College of Medicine, Houston, Texas 77030, USA
    Blood Cells Mol Dis 28:57-62. 2002
    ..These findings strongly suggest that CP is a congenital disorder of oxygen homeostasis...
  19. ncbi request reprint Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy
    Hiroshi Takashima
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    Nat Genet 32:267-72. 2002
    ..We propose that loss-of-function mutations in TDP1 may cause SCAN1 either by interfering with DNA transcription or by inducing apoptosis in postmitotic neurons...
  20. ncbi request reprint Genetic association analysis of chronic mountain sickness in an Andean high-altitude population
    Olga M Mejía
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Haematologica 90:13-9. 2005
    ....
  21. ncbi request reprint The fibroblast growth factor receptor-4 Arg388 allele is associated with prostate cancer initiation and progression
    Jianghua Wang
    Department of Pathology, Baylor College of Medicine, USA
    Clin Cancer Res 10:6169-78. 2004
    ..We therefore sought to determine whether the FGFR-4 Arg388 allele was associated with prostate cancer incidence and/or the occurrence of aggressive disease...
  22. ncbi request reprint Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease
    Robert Kralovics
    Department of Research, Experimental Hematology, Basel University Hospital, Switzerland
    Blood 102:3793-6. 2003
    ..This finding, together with clonal hematopoiesis in the affected individuals, supports the hypothesis of multiple genetic defects involved in the early pathogenesis of PV...
  23. ncbi request reprint A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia
    Patrick Tarpey
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
    Am J Med Genet A 143:390-4. 2007