Deborah Wenkert

Deborah Wenkert

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Deborah Wenkert

Deborah Wenkert

Publications by authors named "Deborah Wenkert"

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Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation.

Bone 2020 Jan 28;130:115047. Epub 2019 Aug 28.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children-St. Louis, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.115047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6945817PMC
January 2020

X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3'-UTR Mutation c.*231A>G (A Retrospective Case-Control Study).

J Bone Miner Res 2020 Jan 7. Epub 2020 Jan 7.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children - St. Louis, St. Louis, MO, 63110, USA.

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http://dx.doi.org/10.1002/jbmr.3955DOI Listing
January 2020

Hypophosphatasia: Natural history study of 101 affected children investigated at one research center.

Bone 2016 12 27;93:125-138. Epub 2016 Aug 27.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1016/j.bone.2016.08.019DOI Listing
December 2016

Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease.

Am J Med Genet A 2016 Apr 14;170A(4):978-85. Epub 2016 Jan 14.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.37536DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111855PMC
April 2016

Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9.

Bone 2016 Mar 31;84:289-298. Epub 2015 Dec 31.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO 63110, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2015.11.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755825PMC
March 2016

Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.

Bone 2015 Jun 27;75:229-39. Epub 2015 Feb 27.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO 63131, USA; Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO 63110, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S87563282150006
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http://dx.doi.org/10.1016/j.bone.2015.02.022DOI Listing
June 2015

PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic rickets.

J Bone Miner Res 2015 Jan;30(1):137-43

Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO, USA; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO, USA.

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http://dx.doi.org/10.1002/jbmr.2307DOI Listing
January 2015

Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.

Am J Med Genet A 2014 Sep 2;164A(9):2287-93. Epub 2014 Jul 2.

Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, Missouri; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.36641DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4505615PMC
September 2014

Rheumatoid arthritis disease activity and disability affect the risk of serious infection events in RADIUS 1.

J Rheumatol 2013 Aug 15;40(8):1275-81. Epub 2013 Jun 15.

University of Nebraska Medical Center, Omaha, Nebraska, USA.

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http://dx.doi.org/10.3899/jrheum.121288DOI Listing
August 2013

Dual-energy X-ray absorptiometry interpretation: a simple equation for height correction in preteenage children.

J Clin Densitom 2012 Jul-Sep;15(3):267-74. Epub 2012 Mar 16.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10946950120000
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http://dx.doi.org/10.1016/j.jocd.2012.01.004DOI Listing
September 2012

Fibrodysplasia ossificans progressiva: middle-age onset of heterotopic ossification from a unique missense mutation (c.974G>C, p.G325A) in ACVR1.

J Bone Miner Res 2012 Mar;27(3):729-37

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO 63131, USA.

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http://dx.doi.org/10.1002/jbmr.1473DOI Listing
March 2012

Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review).

J Bone Miner Res 2011 Oct;26(10):2389-98

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St Louis, MO 63131-3597, USA.

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http://dx.doi.org/10.1002/jbmr.454DOI Listing
October 2011

Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders.

J Bone Miner Res 2010 Nov;25(11):2515-26

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St Louis, MO 63131-3597, USA.

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http://doi.wiley.com/10.1002/jbmr.130
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http://dx.doi.org/10.1002/jbmr.130DOI Listing
November 2010

Bisphosphonate-induced osteopetrosis: novel bone modeling defects, metaphyseal osteopenia, and osteosclerosis fractures after drug exposure ceases.

J Bone Miner Res 2008 Oct;23(10):1698-707

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, Missouri 63131-3597, USA.

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http://www.pedrad.org/Portals/5/Events/2008/Osteopetrosis.pd
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http://doi.wiley.com/10.1359/jbmr.080511
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http://dx.doi.org/10.1359/jbmr.080511DOI Listing
October 2008

Absence of MMP2 mutation in idiopathic multicentric osteolysis with nephropathy.

Clin Orthop Relat Res 2007 Sep;462:80-6

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, MO, USA.

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https://insights.ovid.com/crossref?an=00003086-200709000-000
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http://dx.doi.org/10.1097/BLO.0b013e3180d09db8DOI Listing
September 2007

Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts.

J Clin Endocrinol Metab 2007 Aug 22;92(8):2923-30. Epub 2007 May 22.

Pediatric Research Institute, Cardinal Glennon Children's Hospitals, St. Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1210/jc.2006-2131DOI Listing
August 2007

Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis.

J Bone Miner Res 2007 Feb;22(2):243-50

Washington University School of Medicine, St Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1359/jbmr.061102DOI Listing
February 2007

Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?

Am J Med Genet A 2005 Dec;139A(2):67-77

Department of Pediatrics, Children's Craniofacial Center, University of Washington and Children's Hospital and Regional Medical Center, Seattle, Washington 98105-5371, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30915
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http://dx.doi.org/10.1002/ajmg.a.30915DOI Listing
December 2005

Bisphosphonate-induced osteopetrosis.

N Engl J Med 2003 Jul;349(5):457-63

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, MO 63131-3597, USA.

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http://www.pedrad.org/Portals/5/Events/2008/Osteopetrosis.pd
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http://www.nejm.org/doi/abs/10.1056/NEJMoa023110
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http://dx.doi.org/10.1056/NEJMoa023110DOI Listing
July 2003

Congenital blindness and osteoporosis-pseudoglioma syndrome.

J AAPOS 2003 Feb;7(1):75-7

St Louis University Eye Institute, St Louis, MO 63104, USA.

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http://dx.doi.org/10.1067/mpa.2003.S109185310300051XDOI Listing
February 2003