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Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 978, doi. 10.1002/ajmg.a.37536
By:
- Gottesman, Gary S.;
- Madson, Katherine L.;
- McAlister, William H.;
- Nenninger, Angela;
- Wenkert, Deborah;
- Mumm, Steven;
- Whyte, Michael P.
Publication type:
Article
Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2287, doi. 10.1002/ajmg.a.36641
By:
- 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.
Publication type:
Article
Juvenile paget's disease in an Iranian kindred with vitamin D deficiency and novel homozygous TNFRSF11B mutation.
Published in:
Journal of Bone & Mineral Research, 2013, v. 28, n. 6, p. 1501, doi. 10.1002/jbmr.1868
By:
- Saki, Forough;
- Karamizadeh, Zohreh;
- Nasirabadi, Shiva;
- Mumm, Steven;
- McAlister, William H;
- Whyte, Michael P
Publication type:
Article
Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy.
Published in:
Journal of Bone & Mineral Research, 2013, v. 28, n. 2, p. 419, doi. 10.1002/jbmr.1752
By:
- Otero, Jesse E;
- Gottesman, Gary S;
- McAlister, William H;
- Mumm, Steven;
- Madson, Katherine L;
- Kiffer-Moreira, Tina;
- Sheen, Campbell;
- Millán, José Luis;
- Ericson, Karen L;
- Whyte, Michael P
Publication type:
Article
'Atypical femoral fractures' during bisphosphonate exposure in adult hypophosphatasia.
Published in:
Journal of Bone & Mineral Research, 2012, v. 27, n. 5, p. 987, doi. 10.1002/jbmr.1565
By:
- Sutton, Roger AL;
- Mumm, Steven;
- Coburn, Stephen P;
- Ericson, Karen L;
- Whyte, Michael P
Publication type:
Article
Fibrodysplasia ossificans progressiva: Middle-age onset of heterotopic ossification from a unique missense mutation (c.974G > C, p.G325A) in ACVR1.
Published in:
Journal of Bone & Mineral Research, 2012, v. 27, n. 3, p. 729, doi. 10.1002/jbmr.1473
By:
- Whyte, Michael P;
- Wenkert, Deborah;
- Demertzis, Jennifer L;
- DiCarlo, Edward F;
- Westenberg, Erica;
- Mumm, Steven
Publication type:
Article
Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review).
Published in:
Journal of Bone & Mineral Research, 2011, v. 26, n. 10, p. 2389, doi. 10.1002/jbmr.454
By:
- Wenkert, Deborah;
- McAlister, William H;
- Coburn, Stephen P;
- Zerega, Janice A;
- Ryan, Lawrence M;
- Ericson, Karen L;
- Hersh, Joseph H;
- Mumm, Steven;
- Whyte, Michael P
Publication type:
Article
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.
Published in:
Journal of Bone & Mineral Research, 2011, v. 26, n. 5, p. 920, doi. 10.1002/jbmr.283
By:
- Whyte, Michael P.;
- Totty, William G.;
- Novack, Deborah V.;
- Xiafang Zhang;
- Wenkert, Deborah;
- Mumm, Steven
Publication type:
Article
Dysosteosclerosis Presents as an "Osteoclast-Poor" Form of Osteopetrosis: Comprehensive Investigation of a 3-Year-Old Girl and Literature Review.
Published in:
2010
By:
- Whyte, Michael P.;
- Wenkert, Deborah;
- McAlister, William H.;
- Novack, Deborah V.;
- Nenninger, Angie R.;
- Xiafang Zhang;
- Huskey, Margaret;
- Mumm, Steven
Publication type:
Case Study
Elevated Serum Lactate Dehydrogenase Isoenzymes and Aspartate Transaminase Distinguish Albers-Schönberg Disease (Chloride Channel 7 Deficiency Osteopetrosis) Among the Sclerosing Bone Disorders.
Published in:
Journal of Bone & Mineral Research, 2010, v. 25, n. 11, p. 2515, doi. 10.1002/jbmr.130
By:
- Whyte, Michael P.;
- Kempa, Lydia G.;
- McAlister, William H.;
- Fan Zhang;
- Mumm, Steven;
- Wenkert, Deborah
Publication type:
Article
Chronic Recurrent Multifocal Osteomyelitis Mimicked in Childhood Hypophosphatasia.
Published in:
2009
By:
- Whyte, Michael P.;
- Wenkert, Deborah;
- McAlister, William H.;
- Mughal, M. Zulf;
- Freemont, Anthony J.;
- Whitehouse, Richard;
- Baildam, Eileen M.;
- Coburn, Stephen P.;
- Ryan, Lawrence M.;
- Mumm, Steven
Publication type:
Case Study
Juvenile Paget's Disease: The Second Reported, Oldest Patient Is Homozygous for the TNFRSF11B "Balkan" Mutation (966̱969de1TGACinsCTT), Which Elevates Circulating Immunoreactive Osteoprotegerin Levels.
Published in:
Journal of Bone & Mineral Research, 2007, v. 22, n. 6, p. 938, doi. 10.1359/JBMR.070307
By:
- Whyte, Michael P.;
- Singhellakis, Panagiotis N.;
- Michael B. Petersen;
- Davies, Michael;
- Totty, William G.;
- Mumm, Steven
Publication type:
Article
Deactivating Germline Mutations in LEMD3 Cause Osteopoikilosis and Buschke-Ollendorff Syndrome, but Not Sporadic Melorheostosis.
Published in:
Journal of Bone & Mineral Research, 2007, v. 22, n. 2, p. 243, doi. 10.1359/JBMR.061102
By:
- Mumm, Steven;
- Wenkert, Deborah;
- Xiafang Zhang;
- Mcalister, William H.;
- Mier, Richard J.;
- Michael P. Whyte
Publication type:
Article
CYP1A1: Ethnic and Population Differences in Allelic Frequencies and Interpretation of Bone Biology Studies.
Published in:
2006
By:
- Napoli, Nicola;
- Mumm, Steven;
- Armamento-Villareal, Reina
Publication type:
Letter
Oropharyngeal Skeletal Disease Accompanying High Bone Mass and Novel LRP5 Mutation.
Published in:
Journal of Bone & Mineral Research, 2005, v. 20, n. 5, p. 878, doi. 10.1359/JBMR.041223
By:
- Rickels, Michael R;
- Zhang, Xiafang;
- Mumm, Steven;
- Whyte, Michael P
Publication type:
Article
Effect of CYP1A1 Gene Polymorphisms on Estrogen Metabolism and Bone Density.
Published in:
Journal of Bone & Mineral Research, 2005, v. 20, n. 2, p. 232, doi. 10.1359/JBMR.041110
By:
- Napoli, Nicola;
- Villareal, Dennis T;
- Mumm, Steven;
- Halstead, Linda;
- Sheikh, Sharmin;
- Cagaanan, Manuel;
- Rini, Giovam Battista;
- Armamento-Villareal, Reina
Publication type:
Article
Marrow Cell Transplantation for Infantile Hypophosphatasia.
Published in:
Journal of Bone & Mineral Research, 2003, v. 18, n. 4, p. 624, doi. 10.1359/jbmr.2003.18.4.624
By:
- Whyte, Michael P;
- Kurtzberg, Joanne;
- McALISTER, William H;
- Mumm, Steven;
- Podgornik, Michelle N;
- Coburn, Stephen P;
- Ryan, Lawrence M;
- Miller, Cindy R;
- Gottesman, Gary S;
- Smith, Alan K;
- Douville, Judy;
- Waters-Pick, Barbara;
- Armstrong, R Douglas;
- Martin, Paul L
Publication type:
Article
Preonset Studies of Spondyloepiphyseal Dysplasia Tarda Caused by a Novel 2-Base Pair Deletion in SEDL Encoding Sedlin.
Published in:
Journal of Bone & Mineral Research, 2001, v. 16, n. 12, p. 2245, doi. 10.1359/jbmr.2001.16.12.2245
By:
- Mumm, Steven;
- Zhang, Xiafang;
- Gottesman, Gary S.;
- McAlister, William H.;
- Whyte, Michael P.
Publication type:
Article
Historical Vignette: Hypophosphatasia: Molecular Diagnosis of Rathbun's Original Case.
Published in:
Journal of Bone & Mineral Research, 2001, v. 16, n. 9, p. 1724, doi. 10.1359/jbmr.2001.16.9.1724
By:
- Mumm, Steven;
- Jones, Jonathan;
- Finnegan, Patrick;
- Whyte, Michael P.
Publication type:
Article
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.
Published in:
Nature Genetics, 2004, v. 36, n. 4, p. 377, doi. 10.1038/ng1332
By:
- Watts, Giles D. J.;
- Wymer, Jill;
- Kovach, Margaret J.;
- Mehta, Sarju G.;
- Mumm, Steven;
- Darvish, Daniel;
- Pestronk, Alan;
- Whyte, Michael P.;
- Kimonis, Virginia E.
Publication type:
Article
Acute severe hypercalcemia after traumatic fractures and immobilization in hypophosphatasia complicated by chronic renal failure.
Published in:
2013
By:
- Whyte, Michael P;
- Leelawattana, Rattana;
- Reinus, William R;
- Yang, Chang;
- Mumm, Steven;
- Novack, Deborah V
Publication type:
journal article
Lack of Sustained Response to Teriparatide in a Patient with Adult Hypophosphatasia.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 3, p. 1007, doi. 10.1210/jc.2009-1965
By:
- Gagnon, Claudia;
- Sims, Natalie A.;
- Mumm, Steven;
- McAuley, Sybil A.;
- Jung, Caroline;
- Poulton, Ingrid J.;
- Ng, Kong Wah;
- Ebeling, Peter R.
Publication type:
Article
Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.
Published in:
2008
By:
- Stevenson, David A;
- Carey, John C;
- Coburn, Stephen P;
- Ericson, Karen L;
- Byrne, Janice L B;
- Mumm, Steven;
- Whyte, Michael P
Publication type:
journal article
Infantile Hypophosphatasia: Transplantation Therapy Trial Using Bone Fragments and Cultured Osteoblasts.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 8, p. 2923, doi. 10.1210/jc.2006-2131
By:
- Cahill, Richard A.;
- Wenkert, Deborah;
- Perlman, Sharon A.;
- Steele, Ann;
- Coburn, Stephen P.;
- McAlister, William H.;
- Mumm, Steven;
- Whyte, Michael P.
Publication type:
Article
Sporadic Hyperphosphatasia Syndrome Featuring Periostitis and Accelerated Skeletal Turnover without Receptor Activator of Nuclear Factor-κB, Osteoprotegerin, or Sequestosome-1 Gene Defects.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 5, p. 1897, doi. 10.1210/jc.2006-0479
By:
- Simsek, Suat;
- Basoski, Natalja M.;
- Bravenboer, Nathalie;
- Xiafang Zhang;
- Mumm, Steven;
- Whyte, Michael P.C;
- Netelenbos, J. Coen
Publication type:
Article
Neonatal Lethal Osteochondrodysplasia with Low Serum Levels of Alkaline Phosphatase and Osteocalcin.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 2, p. 1233, doi. 10.1210/jc.2004-0251
By:
- Wyckoff, Myra H.;
- El-Turk, Chirine;
- Laptook, Abbot;
- Timmons, Charles;
- Gannon, Francis H.;
- Xiafang Zhang;
- Mumm, Steven;
- Whyte, Michael P.
Publication type:
Article
A Five-Base Pair Deletion in the Sedlin Gene Causes Spondyloepiphyseal Dysplasia Tarda in a Six-Generation Arkansas Kindred.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 9, p. 3343, doi. 10.1210/jcem.85.9.6840
By:
- MUMM, STEVEN;
- CHRISTIE, PAUL T.;
- FINNEGAN, PATRICK;
- JONES, JONATHAN;
- DIXON, PETER H.;
- PANNETT, ANNA A. J.;
- HARDING, BRIAN;
- GOTTESMAN, GARY S.;
- THAKKER, RAJESH V.;
- WHYTE, MICHAEL P.
Publication type:
Article
Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome.
Published in:
Human Genetics, 2005, v. 118, n. 3/4, p. 508, doi. 10.1007/s00439-005-0075-z
By:
- Watts, Giles D. J.;
- Mehta, Sarju G.;
- Chengfeng Zhao;
- Ramdeen, Sheena;
- Hamilton, Sara Jane;
- Novack, Deborah v.;
- Mumm, Steven;
- Whyte, Michael P.;
- McGillivray, Barbara;
- Kimonis, Virginia E.
Publication type:
Article
ATRAID regulates the action of nitrogen-containing bisphosphonates on bone.
Published in:
Science Translational Medicine, 2020, v. 12, n. 544, p. 1, doi. 10.1126/scitranslmed.aav9166
By:
- Surface, Lauren E.;
- Burrow, Damon T.;
- Li, Jinmei;
- Park, Jiwoong;
- Kumar, Sandeep;
- Lyu, Cheng;
- Song, Niki;
- Yu, Zhou;
- Rajagopal, Abbhirami;
- Bae, Yangjin;
- Lee, Brendan H.;
- Mumm, Steven;
- Gu, Charles C.;
- Baker, Jonathan C.;
- Mohseni, Mahshid;
- Sum, Melissa;
- Huskey, Margaret;
- Duan, Shenghui;
- Bijanki, Vinieth N.;
- Civitelli, Roberto
Publication type:
Article
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 22, p. 4904, doi. 10.1093/hmg/dds326
By:
- 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.
Publication type:
Article
COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.
Published in:
Human Mutation, 2011, v. 32, n. 6, p. 598, doi. 10.1002/humu.21475
By:
- 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.
Publication type:
Article
Pediatric hypophosphatasia: avoid diagnosis missteps!
Published in:
Journal of Bone & Mineral Research, 2024, v. 39, n. 6, p. 655, doi. 10.1093/jbmr/zjae098
By:
- Whyte, Michael P;
- McAlister, William H;
- Mack, Karen E;
- Mumm, Steven;
- Madson, Katherine L
Publication type:
Article
ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology.
Published in:
Journal of Bone & Mineral Research, 2020, v. 35, n. 10, p. 1974, doi. 10.1002/jbmr.3993
By:
- Scotto di Carlo, Federica;
- Pazzaglia, Laura;
- Mumm, Steven;
- Benassi, Maria S;
- De Chiara, Annarosaria;
- Franchi, Alessandro;
- Parafioriti, Antonina;
- Righi, Alberto;
- Esposito, Teresa;
- Whyte, Michael P;
- Gianfrancesco, Fernando
Publication type:
Article
X‐Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′‐UTR Mutation c.*231A>G (A Retrospective Case–Control Study).
Published in:
Journal of Bone & Mineral Research, 2020, v. 35, n. 5, p. 920, doi. 10.1002/jbmr.3955
By:
- Smith, Pamela S;
- Gottesman, Gary S;
- Zhang, Fan;
- Cook, Fiona;
- Ramirez, Beatriz;
- Wenkert, Deborah;
- Wollberg, Valerie;
- Huskey, Margaret;
- Mumm, Steven;
- Whyte, Michael P
Publication type:
Article
Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25‐Dihydroxyvitamin D‐Mediated Hypercalcemia and Generalized Osteosclerosis.
Published in:
Journal of Bone & Mineral Research, 2018, v. 33, n. 11, p. 2071, doi. 10.1002/jbmr.3532
By:
- 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
Publication type:
Article
Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).
Published in:
Journal of Bone & Mineral Research, 2017, v. 32, n. 4, p. 757, doi. 10.1002/jbmr.3034
By:
- Whyte, Michael P;
- McAlister, William H;
- Fallon, Michael D;
- Pierpont, Mary Ella;
- Bijanki, Vinieth N;
- Duan, Shenghui;
- Otaify, Ghada A;
- Sly, William S;
- Mumm, Steven
Publication type:
Article
Skeletal Fluorosis Due To Inhalation Abuse of a Difluoroethane-Containing Computer Cleaner.
Published in:
Journal of Bone & Mineral Research, 2017, v. 32, n. 1, p. 188, doi. 10.1002/jbmr.2923
By:
- Tucci, Joseph R;
- Whitford, Gary M;
- McAlister, William H;
- Novack, Deborah V;
- Mumm, Steven;
- Keaveny, Tony M;
- Whyte, Michael P
Publication type:
Article
Idiopathic Acquired Osteosclerosis in a Middle-Aged Woman With Systemic Lupus Erythematosus.
Published in:
Journal of Bone & Mineral Research, 2016, v. 31, n. 9, p. 1774, doi. 10.1002/jbmr.2842
By:
- Guañabens, Núria;
- Mumm, Steven;
- Gifre, Laia;
- Ruiz-Gaspà, Silvia;
- Demertzis, Jennifer L;
- Stolina, Marina;
- Novack, Deborah V;
- Whyte, Michael P
Publication type:
Article
Neonatal High Bone Mass With First Mutation of the NF-<sub>κ</sub>B Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65).
Published in:
Journal of Bone & Mineral Research, 2016, v. 31, n. 1, p. 163, doi. 10.1002/jbmr.2590
By:
- 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.
Publication type:
Article
Reply: Response to: Rapid Skeletal Turnover in a Radiographic Mimic of Osteopetrosis Might Be Secondary to Systemic Mastocytosis.
Published in:
Journal of Bone & Mineral Research, 2015, v. 30, n. 8, p. 1537, doi. 10.1002/jbmr.2561
By:
- Whyte, Michael P;
- Madson, Katherine L;
- McAlister, William H;
- Mumm, Steven;
- Novack, Deborah V;
- Blair, Jo C;
- Shaw, Nicholas J
Publication type:
Article
Response to: Rapid Skeletal Turnover in Radiographic Mimic of Osteopetrosis Might Be Secondary to Systemic Mastocytosis.
Published in:
Journal of Bone & Mineral Research, 2015, v. 30, n. 5, p. 946, doi. 10.1002/jbmr.2455
By:
- Whyte, Michael P;
- Madson, Katherine L;
- McAlister, William H;
- Mumm, Steven;
- Novack, Deborah V;
- Blair, Jo C;
- Shaw, Nicholas J
Publication type:
Article
Lenz-Majewski Hyperostotic Dwarfism with Hyperphosphoserinuria from a Novel Mutation in PTDSS1 Encoding Phosphatidylserine Synthase 1.
Published in:
Journal of Bone & Mineral Research, 2015, v. 30, n. 4, p. 606, doi. 10.1002/jbmr.2398
By:
- Whyte, Michael P;
- Blythe, Amanda;
- McAlister, William H;
- Nenninger, Angela R;
- Bijanki, Vinieth N;
- Mumm, Steven
Publication type:
Article
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.
Published in:
Journal of Bone & Mineral Research, 2015, v. 30, n. 1, p. 137, doi. 10.1002/jbmr.2307
By:
- Mumm, Steven;
- Huskey, Margaret;
- Cajic, Adela;
- Wollberg, Valerie;
- Zhang, Fan;
- Madson, Katherine L;
- Wenkert, Deborah;
- McAlister, William H;
- Gottesman, Gary S;
- Whyte, Michael P
Publication type:
Article
Rapid Skeletal Turnover in a Radiographic Mimic of Osteopetrosis.
Published in:
Journal of Bone & Mineral Research, 2014, v. 29, n. 12, p. 2601, doi. 10.1002/jbmr.2289
By:
- 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
Publication type:
Article
Calcific Periarthritis as the Only Clinical Manifestation of Hypophosphatasia in Middle-Aged Sisters.
Published in:
Journal of Bone & Mineral Research, 2014, v. 29, n. 4, p. 929, doi. 10.1002/jbmr.2110
By:
- Guañabens, Núria;
- Mumm, Steven;
- Möller, Ingrid;
- González-Roca, Eva;
- Peris, Pilar;
- Demertzis, Jennifer L;
- Whyte, Michael P
Publication type:
Article
Pregnancy-Associated Osteoporosis With a Heterozygous Deactivating LDL Receptor-Related Protein 5 ( LRP5) Mutation and a Homozygous Methylenetetrahydrofolate Reductase ( MTHFR) Polymorphism.
Published in:
Journal of Bone & Mineral Research, 2014, v. 29, n. 4, p. 922, doi. 10.1002/jbmr.2095
By:
- Cook, Fiona J;
- Mumm, Steven;
- Whyte, Michael P;
- Wenkert, Deborah
Publication type:
Article
Panostotic Expansile Bone Disease With Massive Jaw Tumor Formation and a Novel Mutation in the Signal Peptide of RANK.
Published in:
Journal of Bone & Mineral Research, 2014, v. 29, n. 4, p. 911, doi. 10.1002/jbmr.2094
By:
- 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
Publication type:
Article
LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low‐Density Lipoprotein Receptor‐Related Protein 6.
Published in:
JBMR Plus, 2023, v. 7, n. 4, p. 1, doi. 10.1002/jbm4.10717
By:
- Whyte, Michael P;
- Mumm, Steven;
- Baker, Jonathan C;
- Zhang, Fan;
- Sedighi, Homer;
- Duan, Shenghui;
- Cundy, Tim
Publication type:
Article
X‐Linked Hypophosphatemia Caused by the Prevailing North American PHEX Variant c.*231A>G; Exon 13–15 Duplication Is Often Misdiagnosed as Ankylosing Spondylitis and Manifests in Both Men and Women.
Published in:
JBMR Plus, 2022, v. 6, n. 12, p. 1, doi. 10.1002/jbm4.10692
By:
- Dahir, Kathryn McCrystal;
- Black, Margo;
- Gottesman, Gary S;
- Imel, Erik A;
- Mumm, Steven;
- Nichols, Cindy M;
- Whyte, Michael P
Publication type:
Article
Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity.
Published in:
JBMR Plus, 2022, v. 6, n. 8, p. 1, doi. 10.1002/jbm4.10663
By:
- Turan, Serap;
- Mumm, Steven;
- Alavanda, Ceren;
- Kaygusuz, Betul Sare;
- Gurpinar Tosun, Busra;
- Arman, Ahmet;
- Huskey, Margaret;
- Guran, Tulay;
- Duan, Shenghui;
- Bereket, Abdullah;
- Whyte, Michael P.
Publication type:
Article

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