Camurati-Engelmann Disease: Unique Variant Featuring a Novel Mutation in TGFβ1 Encoding Transforming Growth Factor Beta 1 and a Missense Change in TNFSF11 Encoding RANK Ligand

Por Whyte, Michael P, Totty, William G, Novack, Deborah V, Zhang, Xiafang, Wenkert, Deborah, Mumm, Steven
Publicado em 2011

Juvenile Paget’s Disease In An Iranian Kindred With Vitamin D Deficiency And Novel Homozygous TNFRSF11B Mutation

Por Saki, Forough, Karamizadeh, Zohreh, Nasirabadi, Shiva, Mumm, Steven, McAlister, William H., Whyte, Michael P.
Publicado em 2013

A variable domain of delayed replication in FRAXA fragile X chromosomes: X inactivation-like spread of late replication

Por Hansen, R. Scott, Canfield, Theresa K., Fjeld, Alan D., Mumm, Steven, Laird, Charles D., Gartler, Stanley M.
Publicado em 1997

Congenital Insensitivity To Pain: Fracturing Without Apparent Skeletal Pathobiology Caused By An Autosomal Dominant, Second Mutation in SCN11A Encoding Voltage-Gated Sodium Channel...

Por Phatarakijnirund, Voraluck, Mumm, Steven, McAlister, William H., Novack, Deborah, Wenkert, Deborah, Clements, Karen L., Whyte, Michael P.
Publicado no Bone (2015)

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

Por Gottesman, Gary S., Madson, Katherine L., McAlister, William H., Nenninger, Angela, Wenkert, Deborah, Mumm, Steven, Whyte, Michael P.
Publicado no Am J Med Genet A (2016)

Effects of Polymorphisms of the Sex Hormone-Binding Globulin (SHBG) Gene on Free Estradiol and Bone Mineral Density

Por Napoli, Nicola, Varadharajan, Ana, Rini, Giovam Batista, Del Fiacco, Romano, Yarramaneni, Jayasree, Mumm, Steven, Villareal, Dennis T., Armamento-Villareal, Reina C.
Publicado em 2009

Idiopathic Acquired Osteosclerosis In A Middle-aged Woman With Systemic Lupus Erythematosus

Por Guañabens, Núria, Mumm, Steven, Gifre, Laia, Gaspà, Silvia Ruiz, Demertzis, Jennifer L., Stolina, Marina, Novack, Deborah V., Whyte, Michael P
Publicado no J Bone Miner Res (2016)

Autosomal Recessive Hypophosphatasia Manifesting in Utero with Long Bone Deformity but Showing Spontaneous Postnatal Improvement

Por Stevenson, David A., Carey, John C., Coburn, Stephen P., Ericson, Karen L., Byrne, Janice L. B., Mumm, Steven, Whyte, Michael P.
Publicado em 2008

Dysosteosclerosis Presents as an “Osteoclast-Poor” Form of Osteopetrosis: Comprehensive Investigation of a 3-Year-Old Girl and Literature Review

Por Whyte, Michael P, Wenkert, Deborah, McAlister, William H, Novack, Deborah V, Nenninger, Angie R, Zhang, Xiafang, Huskey, Margaret, Mumm, Steven
Publicado em 2010

Juvenile Paget’s Disease With Heterozygous Duplication In TNFRSF11A Encoding RANK

Por Whyte, Michael P., Tau, Cristina, McAlister, William H., Zhang, Xiafang, Novack, Deborah V., Preliasco, Virginia, Santini-Araujo, Eduardo, Mumm, Steven
Publicado em 2014

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

Por 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.
Publicado no Am J Med Genet A (2014)

The Val432Leu polymorphism of the CYP1B1 gene is associated with differences in estrogen metabolism and bone density()

Por Napoli, Nicola, Rini, Giovam Battista, Serber, Daniel, Giri, Tusar, Yarramaneni, Jayasree, Bucchieri, Salvatore, Camarda, Lawrence, Di Fede, Gaetana, Camarda, Marcello Rosolino, Jain, Sudahansu, Mumm, Steven, Armamento-Villareal, Reina
Publicado em 2008

Rapid Skeletal Turnover In A Radiographic Mimic Of Osteopetrosis

Por Whyte, Michael P., Madson, Katherine L., Mumm, Steven, McAlister, William H., Novack, Deborah V., Blair, Jo C., Helliwell, Timothy R., Stolina, Marina, Abernethy, Laurence J., Shaw, Nicholas J.
Publicado no J Bone Miner Res (2014)

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

Por Campeau, Philippe M., Lu, James T., Sule, Gautam, Jiang, Ming-Ming, Bae, Yangjin, Madan, Simran, Högler, Wolfgang, Shaw, Nicholas J., Mumm, Steven, Gibbs, Richard A., Whyte, Michael P., Lee, Brendan H.
Publicado em 2012

Panostotic Expansile Bone Disease With Massive Jaw Tumor Formation and a Novel Mutation in the Signal Peptide of RANK

Por Schafer, Anne L, Mumm, Steven, El-Sayed, Ivan, McAlister, William H, Horvai, Andrew E, Tom, Andrea M, Hsiao, Edward C, Schaefer, Frederick V, Collins, Michael T, Anderson, Mark S, Whyte, Michael P, Shoback, Dolores M
Publicado no J Bone Miner Res (2014)

Neonatal High Bone Mass With First Mutation Of The NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65)

Por Frederiksen, Anja L., Larsen, Martin J., Brusgaard, Klaus, Novack, Deborah V., Knudsen, Peter Juel Thiis, Schrøder, Henrik Daa, Qiu, Weimin, Eckhardt, Christina, McAlister, William H., Kassem, Moustapha, Mumm, Steven, Frost, Morten, Whyte, Michael P.
Publicado no J Bone Miner Res (2015)

Clinical Studies in Familial VCP Myopathy Associated With Paget Disease of Bone and Frontotemporal Dementia

Por Kimonis, Virginia. E., Mehta, Sarju G., Fulchiero, Erin C., Thomasova, Dana, Pasquali, Marzia, Boycott, Kym, Neilan, Edward G., Kartashov, Alex, Forman, Mark S., Tucker, Stuart, Kimonis, Katerina, Mumm, Steven, Whyte, Michael P., Smith, Charles D., Watts, Giles D. J.
Publicado em 2008

COL1 C-propeptide Cleavage Site Mutations Cause High Bone Mass Osteogenesis Imperfecta

Por Lindahl, Katarina, Barnes, Aileen M., Fratzl-Zelman, Nadja, Whyte, Michael P., Hefferan, Theresa E., Makareeva, Elena, Brusel, Marina, Yaszemski, Michael J., Rubin, Carl-Johan, Kindmark, Andreas, Roschger, Paul, Klaushofer, Klaus, McAlister, William H., Mumm, Steven, Leikin, Sergey, Kessler, Efrat, Boskey, Adele L., Ljunggren, Östen, Marini, Joan C.
Publicado em 2011