Gary S Gottesman

Gary S Gottesman

UNVERIFIED PROFILE

Are you Gary S Gottesman?   Register this Author

Register author
Gary S Gottesman

Gary S Gottesman

Publications by authors named "Gary S Gottesman"

Are you Gary S Gottesman?   Register this Author

22Publications

503Reads

14Profile Views

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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

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

Efficacy and safety of burosumab in children aged 1-4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial.

Lancet Diabetes Endocrinol 2019 Mar 9;7(3):189-199. Epub 2019 Jan 9.

Indiana University School of Medicine, Indianapolis, IN, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S2213-8587(18)30338-3DOI Listing
March 2019

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:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2017.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518630PMC
August 2017

Acromelia-oligodontia syndrome.

Clin Case Rep 2017 06 5;5(6):968-974. Epub 2017 May 5.

Department of Human Genetics Graduate School of Public Health University of Pittsburgh Pittsburgh Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ccr3.956DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458011PMC
June 2017

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

Newborn metabolic screening and related pitfalls.

Mo Med 2009 May-Jun;106(3):234-40

Division of General Academic Pediatrics, Saint Louis University School of Medicine, Cardinal Glennon Children's Medical Center, USA.

View Article

Download full-text PDF

Source
June 2012

Mystery solved: The evolution of diagnostic abilities in genetic testing.

JAAPA 2011 Jan;24(1):57-8

Department of Physician Assistant Education, Doisy College of Health Sciences, Saint Louis University, St Louis, Missouri, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01720610-201101000-00017DOI Listing
January 2011

Newborn screening tests in the 21st century: what PAs need to know.

JAAPA 2010 Apr;23(4):30-5

Department of Physician Assistant Education, Doisy College of Health Sciences, Saint Louis University, St Louis, Missouri, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01720610-201004000-00005DOI Listing
April 2010

The genetics encounter: different from the typical clinic visit.

Authors:
Gary S Gottesman

JAAPA 2010 Mar;23(3):70

Saint Louis University Physician Assistant Program, Saint Louis University, St. Louis, Missouri, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01720610-201003000-00015DOI Listing
March 2010

The challenges of medical genetics and the primary care practitioner.

Authors:
Gary S Gottesman

Mo Med 2004 Mar-Apr;101(2):85-6

View Article

Download full-text PDF

Source
May 2004

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.

View Article

Download full-text PDF

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