Steven Mumm

Steven Mumm

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Early-onset Paget's disease of bone in a Mexican family caused by a novel tandem duplication (77dup27) in TNFRSF11A that encodes RANK.

Bone 2020 Apr 8;133:115224. Epub 2020 Jan 8.

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

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http://dx.doi.org/10.1016/j.bone.2020.115224DOI Listing
April 2020

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

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

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

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

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

Idiopathic Acquired Osteosclerosis in a Middle-Aged Woman With Systemic Lupus Erythematosus.

J Bone Miner Res 2016 09 9;31(9):1774-82. Epub 2016 May 9.

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.2842DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010446PMC
September 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

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

Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sisters.

J Bone Miner Res 2014 Apr;29(4):929-34

Metabolic Bone Diseases Unit, Department of Rheumatology, Hospital Clinic, IDIBAPS, CIBERehd, University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/jbmr.2110DOI Listing
April 2014

Acute severe hypercalcemia after traumatic fractures and immobilization in hypophosphatasia complicated by chronic renal failure.

J Clin Endocrinol Metab 2013 Dec 24;98(12):4606-12. Epub 2013 Sep 24.

MD, Shriners Hospital for Children, 2001 South Lindbergh Boulevard, St Louis, MO 63131.

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http://dx.doi.org/10.1210/jc.2013-1811DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6287393PMC
December 2013

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

"Atypical femoral fractures" during bisphosphonate exposure in adult hypophosphatasia.

J Bone Miner Res 2012 May;27(5):987-94

Osteoporosis Program, Women's Health Centre, University of British Columbia, Vancouver, BC, Canada.

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http://doi.wiley.com/10.1002/jbmr.1565
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http://dx.doi.org/10.1002/jbmr.1565DOI Listing
May 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

Lack of sustained response to teriparatide in a patient with adult hypophosphatasia.

J Clin Endocrinol Metab 2010 Mar 20;95(3):1007-12. Epub 2010 Jan 20.

Department of Medicine, University of Melbourne, Western Hospital, Footscray VIC 3011, Australia.

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http://dx.doi.org/10.1210/jc.2009-1965DOI Listing
March 2010

Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family.

Arch Dermatol 2010 Jan;146(1):63-8

Division of Dermatology, Department of Medicine, Children's Hospital at Montefiore Medical Center, Albert Einstein College of Medicine, 111 E 210th St, Bronx, NY 10467, USA.

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http://dx.doi.org/10.1001/archdermatol.2009.320DOI Listing
January 2010

Effects of polymorphisms of the sex hormone-binding globulin (SHBG) gene on free estradiol and bone mineral density.

Bone 2009 Dec 11;45(6):1169-74. Epub 2009 Aug 11.

Division of Bone and Mineral Diseases at Washington University School of Medicine, Campus Box 8301, 660 South Euclid Ave. St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1016/j.bone.2009.08.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3689651PMC
December 2009

Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.

J Clin Endocrinol Metab 2008 Sep 17;93(9):3443-8. Epub 2008 Jun 17.

Division of Medical Genetics, Department of Pediatrics, 2C412 SOM, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2008-0318DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567856PMC
September 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

Sporadic hyperphosphatasia syndrome featuring periostitis and accelerated skeletal turnover without receptor activator of nuclear factor-kappaB, osteoprotegerin, or sequestosome-1 gene defects.

J Clin Endocrinol Metab 2007 May 6;92(5):1897-901. Epub 2007 Feb 6.

Department of Endocrinology/Diabetes Center, VU University Medical Center, P.O. Box 7057, Boelelaan 1117, 1007 MB Amsterdam, The Netherlands.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2006-0479DOI Listing
May 2007

Adult hypophosphatasia treated with teriparatide.

J Clin Endocrinol Metab 2007 Apr 9;92(4):1203-8. Epub 2007 Jan 9.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, and Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MI 63131-3597, USA.

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http://dx.doi.org/10.1210/jc.2006-1902DOI Listing
April 2007

Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood.

Endocr Pract 2006 Nov-Dec;12(6):676-81

Division of Endocrinology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.

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http://dx.doi.org/10.4158/EP.12.6.676DOI Listing
March 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

Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry.

J Pediatr 2006 Jun;148(6):753-8

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, Missouri 63131, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S002234760600007
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http://dx.doi.org/10.1016/j.jpeds.2006.01.031DOI Listing
June 2006

Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy.

Am J Med Genet A 2006 Feb;140(4):322-30

Division of Genetics and Metabolism, Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://doi.wiley.com/10.1002/ajmg.a.31008
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http://dx.doi.org/10.1002/ajmg.a.31008DOI Listing
February 2006

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

Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome.

Hum Genet 2005 Dec 22;118(3-4):508-14. Epub 2005 Oct 22.

Division of Genetics and Metabolism, Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Fegan 10, Boston, MA, 02115, USA.

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http://link.springer.com/10.1007/s00439-005-0075-z
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http://dx.doi.org/10.1007/s00439-005-0075-zDOI Listing
December 2005

Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation.

J Bone Miner Res 2005 May 20;20(5):878-85. Epub 2004 Dec 20.

Division of Endocrinology, Diabetes and Metabolism, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1359/JBMR.041223DOI Listing
May 2005

Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin.

J Clin Endocrinol Metab 2005 Feb 23;90(2):1233-40. Epub 2004 Nov 23.

Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA.

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http://dx.doi.org/10.1210/jc.2004-0251DOI Listing
February 2005

Effect of CYP1A1 gene polymorphisms on estrogen metabolism and bone density.

J Bone Miner Res 2005 Feb 16;20(2):232-9. Epub 2004 Nov 16.

Division of Bone and Mineral Diseases, Washington University School of Medicine, St Louis, MO 63110, USA.

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http://dx.doi.org/10.1359/JBMR.041110DOI Listing
February 2005

Heritable disorders of the RANKL/OPG/RANK signaling pathway.

J Musculoskelet Neuronal Interact 2004 Sep;4(3):254-67

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

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September 2004

High-bone-mass disease and LRP5.

N Engl J Med 2004 May;350(20):2096-9; author reply 2096-9

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http://dx.doi.org/10.1056/NEJM200405133502017DOI Listing
May 2004

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.

Nat Genet 2004 Apr 21;36(4):377-81. Epub 2004 Mar 21.

Division of Genetics, Children's Hospital Boston, 300 Longwood Avenue, Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1038/ng1332DOI Listing
April 2004

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

Genes and translocations involved in POF.

Am J Med Genet 2002 Aug;111(3):328-33

Laboratory of Genetics, National Institute on Aging, Baltimore, Maryland 21224, USA.

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http://dx.doi.org/10.1002/ajmg.10565DOI Listing
August 2002

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

Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia.

Mol Genet Metab 2002 Feb;75(2):143-53

Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital Research Institute, St. Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1006/mgme.2001.3283DOI Listing
February 2002