Carol Wise

Carol Wise

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Carol Wise

Carol Wise

Publications by authors named "Carol Wise"

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Biallelic variants in DNA2 cause microcephalic primordial dwarfism.

Hum Mutat 2019 Aug 23;40(8):1063-1070. Epub 2019 Jun 23.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23776
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http://dx.doi.org/10.1002/humu.23776DOI Listing
August 2019

A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females.

Nat Commun 2015 Mar 18;6:6452. Epub 2015 Mar 18.

1] Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Research Department, Texas Scottish Rite Hospital for Children, Dallas, Texas 75219, USA [2] Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390, USA [3] McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390, USA [4] McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390, USA.

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http://dx.doi.org/10.1038/ncomms7452DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4365504PMC
March 2015

Epistasis amongst PTPN2 and genes of the vitamin D pathway contributes to risk of juvenile idiopathic arthritis.

J Steroid Biochem Mol Biol 2015 Jan 18;145:113-20. Epub 2014 Oct 18.

Paediatric Rheumatology Unit, Royal Children's Hospital, Parkville, Victoria 3052, Australia; Arthritis and Rheumatology Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia.

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http://dx.doi.org/10.1016/j.jsbmb.2014.10.012DOI Listing
January 2015

Genomic Analyses of Patients With Unexplained Early-Onset Scoliosis.

Spine Deform 2014 Sep 27;2(5):324-332. Epub 2014 Aug 27.

Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, 2222 Welborn St., Dallas, TX 75219, USA; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA; Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75390, USA; McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jspd.2014.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228381PMC
September 2014

ptk7 mutant zebrafish models of congenital and idiopathic scoliosis implicate dysregulated Wnt signalling in disease.

Nat Commun 2014 Sep 3;5:4777. Epub 2014 Sep 3.

1] Program in Developmental &Stem Cell Biology, The Hospital for Sick Children, 686 Bay Street, PGCRL 15-9712, Toronto, Ontario, Canada M5G 0A4 [2] Department of Molecular Genetics, The University of Toronto, Toronto, Ontario, Canada M5S 1A8.

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http://dx.doi.org/10.1038/ncomms5777DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4155517PMC
September 2014

A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups.

J Med Genet 2014 Jun 10;51(6):401-6. Epub 2014 Apr 10.

Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, USA Department of Orthopaedics, University of Texas Southwestern Medical Center at Dallas, Dallas, USA Department of Pediatrics, University of Texas Southwestern Medical Center at Dallas, Dallas, USA McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center at Dallas, Dallas, USA.

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http://dx.doi.org/10.1136/jmedgenet-2013-102067DOI Listing
June 2014

The impact of large-scale genomic methods in orthopaedic disorders: insights from genome-wide association studies.

J Bone Joint Surg Am 2014 Mar;96(5):e38

Sarah M. and Charles E. Seay Center for Musculoskeletal Research (N.P., H.K.W.K., J.J.R., and C.A.W.) and Department of Orthopaedics (L.A.C., J.A.H., B.S.R., and D.J.S.), Texas Scottish Rite Hospital for Children, 2222 Welborn Street, Dallas, TX 75219. E-

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http://jbjs.org/content/jbjsam/96/5/e38.full.pdf
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http://jbjs.org/cgi/doi/10.2106/JBJS.M.00398
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http://dx.doi.org/10.2106/JBJS.M.00398DOI Listing
March 2014

Whole-exome sequencing: discovering genetic causes of orthopaedic disorders.

J Bone Joint Surg Am 2013 Dec;95(23):e1851-8

Sarah M. and Charles E. Seay Center for Musculoskeletal Research (N.P., H.K.W.K., C.A.W., and J.J.R.), Department of Orthopaedics (L.A.C., J.A.H, B.S.R., and D.J.S.), Texas Scottish Rite Hospital for Children, 2222 Welborn Street, Dallas, TX 75219. E-mail address for J.J. Rios:

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http://dx.doi.org/10.2106/JBJS.L.01620DOI Listing
December 2013

A novel method for analyzing genetic association with longitudinal phenotypes.

Stat Appl Genet Mol Biol 2013 Mar 13;12(2):241-61. Epub 2013 Mar 13.

Department of Genetics, Rutgers, The State University of New Jersey, 145 Bevier Road, Piscataway, NJ 08854, USA.

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http://dx.doi.org/10.1515/sagmb-2012-0070DOI Listing
March 2013

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.

Hum Mol Genet 2013 Feb 24;22(3):444-51. Epub 2012 Oct 24.

Sarah M and Charles E Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX 75219, USA.

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http://dx.doi.org/10.1093/hmg/dds440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542862PMC
February 2013

Identification of a homozygous PSTPIP1 mutation in a patient with a PAPA-like syndrome responding to canakinumab treatment.

JAMA Dermatol 2013 Feb;149(2):209-15

Division of Immunology, Allergy, and Infectious Diseases, Department of Dermatology, Medical University of Vienna, Waehringer Guertel 18-20, 1090 Vienna, Austria.

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http://dx.doi.org/10.1001/2013.jamadermatol.717DOI Listing
February 2013

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.

Am J Med Genet A 2012 Nov 20;158A(11):2719-25. Epub 2012 Jul 20.

Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, Delaware 19083, USA.

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http://dx.doi.org/10.1002/ajmg.a.35447DOI Listing
November 2012

TDT-HET: a new transmission disequilibrium test that incorporates locus heterogeneity into the analysis of family-based association data.

BMC Bioinformatics 2012 Jan 20;13:13. Epub 2012 Jan 20.

Department of Genetics and Human Genetics Institute, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, USA.

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http://dx.doi.org/10.1186/1471-2105-13-13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3292499PMC
January 2012

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.

Nat Genet 2011 Feb 27;43(4):350-5. Epub 2011 Feb 27.

Medical Research Council (MRC) Human Genetics Unit (HGU), Institute for Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK.

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http://dx.doi.org/10.1038/ng.776DOI Listing
February 2011

Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review.

Curr Genomics 2010 Nov;11(7):519-27

Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Scottish Rite Hospital for Children, Dallas, Texas 75219.

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http://dx.doi.org/10.2174/138920210793175921DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3048314PMC
November 2010

Evaluation of GPR50, hMel-1B, and ROR-alpha melatonin-related receptors and the etiology of adolescent idiopathic scoliosis.

J Pediatr Orthop 2010 Sep;30(6):539-43

Departments of Orthopaedic Surgery and Rehabilitation, Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1097/BPO.0b013e3181e7902cDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2928583PMC
September 2010

Improving patient admissions with dedicated admission nurses.

J Nurs Adm 2009 Jan;39(1):11-3

Clinical Education, Central DuPage Hospital, 25 N Winfield Road, Winfield, IL 60190, USA.

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http://dx.doi.org/10.1097/NNA.0b013e31818fe75cDOI Listing
January 2009

Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation.

Am J Hum Genet 2008 Nov 23;83(5):616-22. Epub 2008 Oct 23.

Department of Orthopedic Surgery, Washington University School of Medicine, St Louis, MO 63119, USA.

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http://dx.doi.org/10.1016/j.ajhg.2008.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668044PMC
November 2008

A family-based likelihood ratio test for general pedigree structures that allows for genotyping error and missing data.

Hum Hered 2008 31;66(2):99-110. Epub 2008 Mar 31.

Department of Applied Mathematics and Statistics, Stony Brook University, Stony Brook, NY, USA.

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http://dx.doi.org/10.1159/000119109DOI Listing
April 2008

Understanding genetic factors in idiopathic scoliosis, a complex disease of childhood.

Curr Genomics 2008 Mar;9(1):51-9

Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX.

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http://www.eurekaselect.com/openurl/content.php?genre=articl
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http://dx.doi.org/10.2174/138920208783884874DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2674301PMC
March 2008

NAT2 variation and idiopathic talipes equinovarus (clubfoot).

Am J Med Genet A 2007 Oct;143A(19):2285-91

Department of Pediatrics, University of Texas Medical School, Houston, Texas 77225, USA.

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http://dx.doi.org/10.1002/ajmg.a.31927DOI Listing
October 2007

Apoptotic gene analysis in idiopathic talipes equinovarus (clubfoot).

Clin Orthop Relat Res 2007 Sep;462:32-7

University of Texas Health Science Center, Houston Graduate School of Biomedical Sciences, Houston, TX, USA.

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http://dx.doi.org/10.1097/BLO.0b013e318073c2d9DOI Listing
September 2007

Familial osteofibrous dysplasia. A case series.

J Bone Joint Surg Am 2005 Oct;87(10):2297-307

Department of Orthopaedic Surgery, Texas Scottish Rite Hospital for Children, 2222 Welborn, Dallas, TX 75219, USA.

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http://dx.doi.org/10.2106/JBJS.D.02575DOI Listing
October 2005

Positional cloning strategies for idiopathic scoliosis.

Stud Health Technol Inform 2002 ;91:86-9

Department of Genetics, Washington University School of-Iedicine, St. Louis, AIO, USA.

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January 2005

SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosis.

Hum Genet 2004 Jun 16;115(1):81-9. Epub 2004 Apr 16.

Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1007/s00439-004-1121-yDOI Listing
June 2004

Is your document control out of control? Complying with document control regulations.

Clin Leadersh Manag Rev 2003 Sep-Oct;17(5):255-62

Southern Arizona VA Health Care System (SAVAHCS), Diagnostic Services (6-113), Department of Pathology and Laboratory Medicine, Tucson, Arizona, USA.

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November 2003

Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway.

Proc Natl Acad Sci U S A 2003 Nov 31;100(23):13501-6. Epub 2003 Oct 31.

Genetics and Genomics Branch and Office of the Clinical Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1073/pnas.2135380100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC263843PMC
November 2003

Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder.

Hum Mol Genet 2002 Apr;11(8):961-9

Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX, USA.

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http://dx.doi.org/10.1093/hmg/11.8.961DOI Listing
April 2002