William H McAlister

William H McAlister

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William H McAlister

William H McAlister

Publications by authors named "William H McAlister"

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Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?

Bone 2020 Mar 13;132:115190. Epub 2019 Dec 13.

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 at Barnes-Jewish Hospital, St. Louis, MO 63110, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.115190DOI Listing
March 2020

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

New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6.

Bone 2019 Oct 11;127:228-243. Epub 2019 May 11.

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 at Barnes-Jewish Hospital, St. Louis, MO 63110, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.05.003DOI Listing
October 2019

No vascular calcification on cardiac computed tomography spanning asfotase alfa treatment for an elderly woman with hypophosphatasia.

Bone 2019 05 28;122:231-236. Epub 2019 Feb 28.

Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.02.025DOI Listing
May 2019

Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: A case-control study.

Bone 2019 04 16;121:243-254. Epub 2019 Jan 16.

Department of Clinical Research, Faculty of Health, University of Southern Denmark (SDU), Winsløwparken 19. 3, DK-5000 Odense C, Denmark; Department of Clinical Genetics, Odense University Hospital, J.B. Winsløws Vej 4, DK-5000 Odense C, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.01.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6457251PMC
April 2019

Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review.

Bone 2018 11 2;116:321-332. Epub 2018 Aug 2.

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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https://linkinghub.elsevier.com/retrieve/pii/S87563282183029
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http://dx.doi.org/10.1016/j.bone.2018.07.022DOI Listing
November 2018

Validation of a Novel Scoring System for Changes in Skeletal Manifestations of Hypophosphatasia in Newborns, Infants, and Children: The Radiographic Global Impression of Change Scale.

J Bone Miner Res 2018 05 14;33(5):868-874. Epub 2018 Feb 14.

Mallinckrodt Institute of Radiology, Washington University School of Medicine at St. Louis Children's Hospital, St. Louis, MO, USA.

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http://dx.doi.org/10.1002/jbmr.3377DOI Listing
May 2018

Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.

Bone 2017 Aug 21;101:145-155. Epub 2017 Apr 21.

McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110, USA; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA; Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO 63110, USA; Division of Genomics and Bioinformatics, 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.2017.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518630PMC
August 2017

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).

J Bone Miner Res 2017 04 14;32(4):757-769. Epub 2016 Dec 14.

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.3034DOI Listing
April 2017

Skeletal Fluorosis Due To Inhalation Abuse of a Difluoroethane-Containing Computer Cleaner.

J Bone Miner Res 2017 01 14;32(1):188-195. Epub 2016 Oct 14.

Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO, USA.

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http://dx.doi.org/10.1002/jbmr.2923DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5977397PMC
January 2017

Asfotase alfa therapy for children with hypophosphatasia.

JCI Insight 2016 06 16;1(9):e85971. Epub 2016 Jun 16.

The University of Manitoba, Faculty of Health Sciences, Department of Pediatrics and Child Health, Winnipeg, Manitoba, Canada.

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http://dx.doi.org/10.1172/jci.insight.85971DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5033855PMC
June 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

Response to: A rapid skeletal turnover in radiographic mimic of osteopetrosis might be secondary to systemic mastocytosis.

J Bone Miner Res 2015 May;30(5):946

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

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http://dx.doi.org/10.1002/jbmr.2455DOI Listing
May 2015

Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1.

J Bone Miner Res 2015 Apr;30(4):606-14

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

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http://dx.doi.org/10.1002/jbmr.2398DOI Listing
April 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

Rapid skeletal turnover in a radiographic mimic of osteopetrosis.

J Bone Miner Res 2014 Dec;29(12):2601-9

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

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http://dx.doi.org/10.1002/jbmr.2289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4391634PMC
December 2014

Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK.

Bone 2014 Nov 23;68:153-61. Epub 2014 Jul 23.

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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http://dx.doi.org/10.1016/j.bone.2014.07.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4189967PMC
November 2014

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

Optometric support to Pacific Angel--Nepal 2012.

Mil Med 2014 Jul;179(7):717-20

Project HOPE, 255 Carter Hall Lane, PO Box 250, Millwood, VA 22646.

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http://dx.doi.org/10.7205/MILMED-D-13-00560DOI Listing
July 2014

Easier to swallow: pictorial review of structural findings of the pharynx at barium pharyngography.

Radiographics 2013 Nov-Dec;33(7):e189-208

From the Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S Kingshighway Blvd, St Louis, MO 63110.

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http://dx.doi.org/10.1148/rg.337125153DOI Listing
June 2014

Panostotic expansile bone disease with massive jaw tumor formation and a novel mutation in the signal peptide of RANK.

J Bone Miner Res 2014 Apr;29(4):911-21

Department of Medicine, University of California, San Francisco, CA, USA; Endocrine Research Unit, Department of Veterans Affairs Medical Center, San Francisco, CA, USA.

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http://dx.doi.org/10.1002/jbmr.2094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4419358PMC
April 2014

Juvenile paget's disease in an Iranian kindred with vitamin D deficiency and novel homozygous TNFRSF11B mutation.

J Bone Miner Res 2013 Jun;28(6):1501-8

Department of Pediatric Endocrinology, Namazi Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.

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http://dx.doi.org/10.1002/jbmr.1868DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663917PMC
June 2013

Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy.

J Bone Miner Res 2013 Feb;28(2):419-30

Medical Scientist Training Program, Washington University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1002/jbmr.1752DOI Listing
February 2013

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

Adenomyotic cyst of the uterus in an adolescent.

Pediatr Radiol 2008 Nov 5;38(11):1239-42. Epub 2008 Aug 5.

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

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http://dx.doi.org/10.1007/s00247-008-0948-0DOI Listing
November 2008

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

CT manifestations of ileal dysgenesis.

Pediatr Radiol 2007 Feb 9;37(2):209-12. Epub 2006 Nov 9.

Mallinckrodt Institute of Radiology, Washington University School of Medicine, Department of Radiology, St. Louis Children's Hospital, 510 South Kingshighway Blvd., St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1007/s00247-006-0351-7DOI 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

Cantu syndrome.

Pediatr Radiol 2005 May 27;35(5):550-1. Epub 2005 Feb 27.

Department of Radiology, Washington University School of Medicine, Mallinckrodt Institute of Radiology, St. Louis Children's Hospital, 510 South Kingshighway Blvd., St. Louis, MO 63110, USA.

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http://link.springer.com/10.1007/s00247-004-1386-2
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http://dx.doi.org/10.1007/s00247-004-1386-2DOI Listing
May 2005

PAGOD syndrome: a new abdominal finding and risk of sudden death.

J Perinatol 2005 May;25(5):349-51

Department of Radiology, St Louis Children's Hospital, Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, MO 63110, USA.

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http://www.nature.com/articles/7211292
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http://dx.doi.org/10.1038/sj.jp.7211292DOI Listing
May 2005

Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome.

Pediatr Radiol 2005 Feb 15;35(2):202-5. Epub 2004 Oct 15.

St. Louis Children's Hospital, Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S. Kingshighway Blvd., St. Louis, MO 63110, USA.

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http://link.springer.com/10.1007/s00247-004-1306-5
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http://dx.doi.org/10.1007/s00247-004-1306-5DOI Listing
February 2005

Multifocal synchronous osteosarcoma with cutaneous and muscle metastases.

Pediatr Radiol 2004 Aug 23;34(8):671-2. Epub 2004 Jun 23.

St. Louis Children's Hospital Department of Radiology, Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 South Kingshighway Blvd., St. Louis, MO 63110, USA.

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http://link.springer.com/10.1007/s00247-004-1205-9
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http://dx.doi.org/10.1007/s00247-004-1205-9DOI Listing
August 2004

Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12).

Hum Genet 2003 Oct 21;113(5):447-51. Epub 2003 Aug 21.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1007/s00439-003-0981-xDOI Listing
October 2003

Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals in sisters: a new syndrome?

Am J Med Genet A 2003 Aug;121A(2):118-25

Division of Rheumatology, Minneapolis VA Medical Center and University of Minnesota, Minneapolis, Minnesota 55417, USA.

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http://doi.wiley.com/10.1002/ajmg.a.20181
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http://dx.doi.org/10.1002/ajmg.a.20181DOI Listing
August 2003

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

Marrow cell transplantation for infantile hypophosphatasia.

J Bone Miner Res 2003 Apr;18(4):624-36

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

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http://dx.doi.org/10.1359/jbmr.2003.18.4.624DOI Listing
April 2003

Osteoprotegerin deficiency and juvenile Paget's disease.

N Engl J Med 2002 Jul;347(3):175-84

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

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http://dx.doi.org/10.1056/NEJMoa013096DOI Listing
July 2002

Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases.

Pediatr Radiol 2002 Jun 2;32(6):452-6. Epub 2002 Feb 2.

St. Louis Children's Hospital Department of Radiology, 510 South Kingshighway Blvd., St. Louis, MO 63110, USA.

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http://link.springer.com/10.1007/s00247-001-0638-7
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http://dx.doi.org/10.1007/s00247-001-0638-7DOI Listing
June 2002

Umbilical artery catheter use complicated by pseudoaneurysm of the aorta.

Pediatr Radiol 2002 Mar;32(3):199-201

Mallinckrodt Institute of Radiology, St. Louis Children's Hospital, MO 63110, USA.

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http://dx.doi.org/10.1007/s00247-001-0631-1DOI Listing
March 2002