SAT-384 Identification of Heterozygous LRP5 Mutation and a TGFβ-1 Variant of Unknown Significance in a Patient with Hearing Loss, High Bone Mass, and Oropharyngeal Exostoses

door Cheng, Cheng, Avery, James, Gottesman, Gary, Mumm, Steven, Whyte, Michael P
Gepubliceerd in J Endocr Soc (2020)

Auricular Ossification: A Newly Recognized Feature of Osteoprotegerin-Deficiency Juvenile Paget Disease

door Gottesman, Gary S., Madson, Katherine L., McAlister, William H., Nenninger, Angela, Wenkert, Deborah, Mumm, Steven, Whyte, Michael P.
Gepubliceerd in Am J Med Genet A (2016)

SAT-LB085 First Report of Burosumab (Anti-FGF23 Monoclonal Antibody) for Rickets Complicating HRAS-Associated Cutaneous Skeletal Hypophosphatemia Syndrome

door Smith, Pamela, Bayliss, Susan, Shinawi, Marwan, Gottesman, Gary, McAlister, William, Sugarman, Jeffrey, Whyte, Michael, Arbelaez, Ana Maria
Gepubliceerd in J Endocr Soc (2019)

Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels

door Dũng, Vu Chi, Tomatsu, Shunji, Montaño, Adriana M., Gottesman, Gary, Bober, Michael B., Mackenzie, William, Maeda, Miho, Mitchell, Grant A., Suzuki, Yasuyuki, Orii, Tadao
Gepubliceerd in 2013

Acromelia‐oligodontia syndrome

door Talasila, Jyothirmai, Pachigolla, Ramaswamy, Yarlagadda, Kiranmai V. S. N., Vuppala, Ramu, Grzeschik, Karl‐Heinz, Kiran K.V.S, Sai, Rose, Catherine M., Gottesman, Gary S., Urban, Zsolt
Gepubliceerd in Clin Case Rep (2017)

Multicentric Carpotarsal Osteolysis Syndrome is Caused by Only a Few Domain-Specific Mutations in MAFB, a Negative Regulator of RANKL-Induced Osteoclastogenesis

door Mumm, Steven, Huskey, Margaret, Duan, Shenghui, Wenkert, Deborah, Madson, Katherine L., Gottesman, Gary S., Nenninger, Angela R., Laxer, Ronald M., McAlister, William H., Whyte, Michael P.
Gepubliceerd in Am J Med Genet A (2014)

Coronary Artery Disease in a Werner Syndrome-Like Form of Progeria Characterized by Low Levels of Progerin, a Splice Variant of Lamin A

door Hisama, Fuki M., Lessel, Davor, Leistritz, Dru, Friedrich, Katrin, McBride, Kim L., Pastore, Matthew T., Gottesman, Gary S., Saha, Bidisha, Martin, George M., Kubisch, Christian, Oshima, Junko
Gepubliceerd in Am J Med Genet A (2011)

Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis

door Whyte, Michael P., Lim, Emilina, McAlister, William H., Gottesman, Gary S., Trinh, Lien, Veis, Deborah J., Bijanki, Vinieth N., Boden, Matthew G., Nenninger, Angela, Mumm, Steven, Buchbinder, David
Gepubliceerd in J Bone Miner Res (2018)

Juvenile Paget’s Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor Sp7)

door Whyte, Michael P., Campeau, Philippe M., McAlister, William H., Roodman, G. David, Kurihara, Nori, Nenninger, Angela, Duan, Shenghui, Gottesman, Gary S., Bijanki, Vinieth N., Sedighi, Homer, Veis, Deborah J., Mumm, Steven
Gepubliceerd in Bone (2020)

Enhancement of drug delivery to bone: Characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide

door Nishioka, Tatsuo, Tomatsu, Shunji, Gutierrez, Monica A., Miyamoto, Ken-ichi, Trandafirescu, Georgeta G., Lopez, Patricia L.C., Grubb, Jeffrey H., Kanai, Rie, Kobayashi, Hironori, Yamaguchi, Seiji, Gottesman, Gary S., Cahill, Richard, Noguchi, Akihiko, Sly, William S.
Gepubliceerd in 2006

Bruck Syndrome 2 Variant Lacking Congenital Contractures And Involving A Novel Compound Heterozygous PLOD2 Mutation

door Mumm, Steven, Gottesman, Gary S., Wenkert, Deborah, Campeau, Philippe M., Nenninger, Angela, Huskey, Margaret, Bijanki, Vinieth N., Veis, Deborah J., Barnes, Aileen M., Marini, Joan C., Stolina, Marina, Zhang, Fan, McAlister, William H., Whyte, Michael P.
Gepubliceerd in Bone (2019)

Gnathodiaphyseal Dysplasia: Severe Atypical Presentation with Novel Heterozygous Mutation of the Anoctamin Gene (ANO5)

door Otaify, Ghada A., Whyte, Michael P., Gottesman, Gary S., McAlister, William H., Gordon, J. Eric, Hollander, Abby, Andrews, Marisa V., El-Mofty, Samir K., Chen, Wei-Shen, Novack, Deborah V., Stolina, Marina, Woo, Albert, Katsonis, Panagiotis, Lichtarge, Olivier, Zhang, Fan, Shinawi, Marwan
Gepubliceerd in Bone (2017)

Epimerase-Deficiency Galactosemia Is Not a Binary Condition

door Openo, Kimberly K., Schulz, Jenny M., Vargas, Claudia A., Orton, Corey S., Epstein, Michael P., Schnur, Rhonda E., Scaglia, Fernando, Berry, Gerard T., Gottesman, Gary S., Ficicioglu, Can, Slonim, Alfred E., Schroer, Richard J., Yu, Chunli, Rangel, Vanessa E., Keenan, Jennifer, Lamance, Kerri, Fridovich-Keil, Judith L.
Gepubliceerd in 2006

Melorheostosis: Exome Sequencing Of An Associated Dermatosis Implicates Postzygotic Mosaicism Of Mutated KRAS

door Whyte, Michael P., Griffith, Malachi, Trani, Lee, Mumm, Steven, Gottesman, Gary S., McAlister, William H., Krysiak, Kilannin, Lesurf, Robert, Skidmore, Zachary L., Campbell, Katie M, Rosman, Ilana S., Bayliss, Susan, Bijanki, Vinieth N., Nenninger, Angela, Van Tine, Brian A., Griffith, Obi L., Mardis, Elaine R.
Gepubliceerd in Bone (2017)

Burosumab versus continuation of conventional therapy in children with X-linked hypophosphatemia: a randomised, active-controlled, open-label, phase 3 trial

door Imel, Erik A., Glorieux, Francis H., Whyte, Michael P., Munns, Craig F., Ward, Leanne, Nilsson, Ola, Simmons, Jill H., Padidela, Raja, Namba, Noriyuki, Cheong, Hae Il, Pitukcheewanont, Pisit, Sochett, Etienne, Högler, Wolfgang, Muroya, Koji, Tanaka, Hiroyuki, Gottesman, Gary S., Biggin, Andrew, Perwad, Farzana, Mao, Meng, Chen, Chao-Yin, Skrinar, Alison, Martin, Javier San, Portale, Anthony A.
Gepubliceerd in Lancet (2019)

Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia

door Padidela, Raja, Whyte, Michael P., Glorieux, Francis H., Munns, Craig F., Ward, Leanne M., Nilsson, Ola, Portale, Anthony A., Simmons, Jill H., Namba, Noriyuki, Cheong, Hae Il, Pitukcheewanont, Pisit, Sochett, Etienne, Högler, Wolfgang, Muroya, Koji, Tanaka, Hiroyuki, Gottesman, Gary S., Biggin, Andrew, Perwad, Farzana, Williams, Angela, Nixon, Annabel, Sun, Wei, Chen, Angel, Skrinar, Alison, Imel, Erik A.
Gepubliceerd in Calcif Tissue Int (2021)