GarySGottesmanMD

PubMed

• 1 citations
  Diagnosing X-Linked Hypophosphatemia in Children: The Missing Element.
  Gary S Gottesman> ;Clinical Pediatrics. 2023 Jan 1
• 6 citations
  Vitamin B6 deficiency with normal plasma levels of pyridoxal 5'-phosphate in perinatal hypophosphatasia.
  Michael P. Whyte, Jennifer D. May, William H. McAlister, Katherine Burgener, Samuel R. Cortez, Raymond Kreienkamp, Olivia Castro, Rachel Verzola, Ana Solis Zavala, Chr...> ;Bone. 2021 May 14
• 5 citations
  Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V.
  Michael P. Whyte, James Aronson, William H. McAlister, Robert S. Weinstein, Deborah Wenkert, Karen L. Clements, Gary S. Gottesman, Katherine L Madson, Marina Stolina, ...> ;Bone. 2021 Apr 1
• 3 citations
  Persistent idiopathic hyperphosphatasemia from bone alkaline phosphatase in a healthy boy.
  Michael P. Whyte, Nina S. Ma, Steven Mumm, Gary S. Gottesman, William H. McAlister, Angela Nenninger, Vinieth N. Bijanki, Karen L. Ericson, Per Magnusson> ;Bone. 2020 May 28
• 9 citations
  X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′-UTR Mutation c.*231A>G (A Retrospective Case–Control Study)
  Pamela S Smith, Gary S. Gottesman, Fan Zhang, Fiona J. Cook, Beatriz Francesca Ramirez, Deborah Wenkert, Valerie A. Wollberg, Margaret Huskey, Steven Mumm, Michael P. ...> ;Journal of Bone and Mineral Research. 2020 May 1
• 11 citations
  Juvenile Paget's disease from heterozygous mutation of SP7 encoding osterix (specificity protein 7, transcription factor SP7)
  Michael P. Whyte, Philippe M. Campeau, William H. McAlister, G. David Roodman, Nori Kurihara, Angela Nenninger, Shenghui Duan, Gary S. Gottesman, Vinieth N. Bijanki, H...> ;Bone. 2020 Aug 1
• 9 citations
  Healing of vitamin D deficiency rickets complicating hypophosphatasia suggests a role beyond circulating mineral sufficiency for vitamin D in musculoskeletal health.
  Elizabeth L. Lin, Gary S. Gottesman, William H. McAlister, Vinieth N. Bijanki, Karen E. Mack, Donna Griffin, Steven Mumm, Michael P. Whyte> ;Bone. 2020 Jul 1
• 35 citations
  New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6.
  Michael P. Whyte, William H. McAlister, Fan Zhang, Vinieth N. Bijanki, Angela Nenninger, Gary S. Gottesman, Elizabeth L. Lin, Margaret Huskey, Shenghui Duan, Kathryn D...> ;Bone. 2019 May 11
• 13 citations
  Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation.
  Steven Mumm, Gary S. Gottesman, Deborah Wenkert, Philippe M. Campeau, Angela Nenninger, Margaret Huskey, Vinieth N. Bijanki, Deborah J. Veis, Aileen M. Barnes, Joan C....> ;Bone. 2020 Jan 1
• 164 citations
  Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial
  Erik A. Imel, Francis H. Glorieux, Michael P. Whyte, Craig F Munns, Leanne Ward, Ola Nilsson, Jill H. Simmons, Raja Padidela, Noriyuki Namba, Hae Il Cheong, Pisit Pitu...> ;Lancet. 2019 Jun 15
• 84 citations
  Efficacy and safety of burosumab in children aged 1-4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial.
  Michael P. Whyte, Thomas O. Carpenter, Gary S. Gottesman, Meng Mao, Alison Skrinar, Javier San Martin, Erik A. Imel> ;The Lancet. Diabetes & Endocrinology. 2019 Mar 1
• 5 citations
  Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis.
  Michael P. Whyte, Emilina Lim, William H. McAlister, Gary S. Gottesman, Lien Trinh, Deborah J. Veis, Vinieth N. Bijanki, Matthew G Boden, Angela Nenninger, Steven Mumm...> ;Journal of Bone and Mineral Research. 2018 Nov 1
• 19 citations
  Gnathodiaphyseal Dysplasia: Severe Atypical Presentation with Novel Heterozygous Mutation of the Anoctamin Gene(ANO5)
  Ghada A. Otaify, Michael P. Whyte, Gary S. Gottesman, William H. McAlister, J. Eric Gordon, Abby S. Hollander, Marisa V. Andrews, Samir K. El-Mofty, Wei-Shen Chen, Deb...> ;Bone. 2018 Feb 1
• 1 citations
  Acromelia-oligodontia syndrome.
  Jyothirmai Talasila, Ramaswamy Pachigolla, Kiranmai V S N Yarlagadda, Ramu Vuppala, Karl-Heinz Grzeschik, Sai Kiran K V S, Catherine M Rose, Gary S. Gottesman, Zsolt U...> ;Clinical Case Reports. 2017 May 5
• 30 citations
  Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.
  Michael P. Whyte, Malachi Griffith, Lee Trani, Steven Mumm, Gary S. Gottesman, William H. McAlister, Kilannin Krysiak, Robert Lesurf, Zachary L. Skidmore, Katie M. Cam...> ;Bone. 2017 Aug 1
• 6 citations
  Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease.
  Gary S. Gottesman, Katherine L Madson, William H. McAlister, Angela Nenninger, Deborah Wenkert, Steven Mumm, Michael P. Whyte> ;American Journal of Medical Genetics. Part A. 2016 Jan 14
• 17 citations
  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 Hypophosphatem...
  Steven Mumm, Margaret Huskey, Adela Cajic, Valerie Wollberg, Fan Zhang, Katherine L Madson, Deborah Wenkert, William H. McAlister, Gary S. Gottesman, Michael P. Whyte> ;Journal of Bone and Mineral Research. 2015 Jan 1
• 31 citations
  Multicentric carpotarsal osteolysis syndrome is caused by only a few domain‐specific mutations in MAFB, a negative regulator of RANKL‐induced osteoclastogenesis
  Steven Mumm, Margaret Huskey, Shenghui Duan, Deborah Wenkert, Katherine L Madson, Gary S. Gottesman, Angela Nenninger, Ronald M. Laxer, William H. McAlister, Michael P...> ;American Journal of Medical Genetics. Part A. 2014 Sep 1
• 47 citations
  Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.
  Vũ Chí Dũng, Shunji Tomatsu, Adriana M. Montaño, Gary S. Gottesman, Michael B. Bober, William G. Mackenzie, Miho Maeda, Grant A. Mitchell, Yasuyuki Suzuki, Tadao Orii> ;Molecular Genetics and Metabolism. 2013 Sep 1
• 62 citations
  Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy
  Jesse E. Otero, Gary S. Gottesman, William H. McAlister, Steven Mumm, Katherine L Madson, Tina Kiffer-Moreira, Campbell R. Sheen, José Luis Millán, Karen L. Ericson, M...> ;Journal of Bone and Mineral Research. 2013 Feb 1
• 47 citations
  Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.
  Fuki M. Hisama, Davor Lessel, Dru F. Leistritz, Katrin Friedrich, Kim L. McBride, Matthew Pastore, Gary S. Gottesman, Bhaskar Saha, George M. Martin, Christian Kubisch...> ;American Journal of Medical Genetics. Part A. 2011 Dec 1
• 1 citations
  Mystery solved: The evolution of diagnostic abilities in genetic testing.
  Gottesman Gs, Batanian> ;JAAPA. 2011 Jan 1
• Newborn screening tests in the 21st century: what PAs need to know.
  Genevieve DelRosario, Gary S. Gottesman> ;JAAPA. 2010 Apr 1
• 1 citations
  The genetics encounter: different from the typical clinic visit.
  Gary S. Gottesman> ;JAAPA. 2010 Mar 1
• 2 citations
  Newborn metabolic screening and related pitfalls.
  Mark C. Eddy, Gary S. Gottesman> ;Missouri Medicine. 2009 May 1
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Journal Articles

• Unique Variant of NOD2 Pediatric Granulomatous Arthritis with Severe 1,25‐Dihydroxyvitamin D‐Mediated Hypercalcemia and Generalized Osteosclerosis*  
  William H McAlister, Michael P Whyte, Gary S Gottesman, Journal of Bone and Mineral Research