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American Journal of Medical Genetics. Part A
|
July 4, 2014
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, et al.
Bone
|
April 9, 2025
Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631)
Steven Mumm, José L Paz-Ibarra, Philippe M Campeau, et al.
Bone
|
May 16, 2019
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, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
February 28, 2020
ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology
Federica Scotto di Carlo, Laura Pazzaglia, Steven Mumm, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
April 2, 2009
Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia
Michael P Whyte, Deborah Wenkert, William H McAlister, et al.
Bone
|
November 4, 2008
The Val432Leu polymorphism of the CYP1B1 gene is associated with differences in estrogen metabolism and bone density
Nicola Napoli, Giovam Battista Rini, Daniel Serber, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
June 23, 2018
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, et al.
American Journal of Medical Genetics. Part A
|
October 14, 2005
Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?
Carrie L Heike, Michael L Cunningham, Robert D Steiner, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
June 13, 2014
Rapid skeletal turnover in a radiographic mimic of osteopetrosis
Michael P Whyte, Katherine L Madson, Steven Mumm, et al.
Human Genetics
|
October 26, 2005
Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome
Giles D J Watts, Sarju G Mehta, Chengfeng Zhao, et al.
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of 9
Search research articles
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Showing results (61-70 of 85) with videos related to
Sort By:
Page
of 9
American Journal of Medical Genetics. Part A
|
July 4, 2014
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, et al.
Bone
|
April 9, 2025
Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631)
Steven Mumm, José L Paz-Ibarra, Philippe M Campeau, et al.
Bone
|
May 16, 2019
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, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
February 28, 2020
ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology
Federica Scotto di Carlo, Laura Pazzaglia, Steven Mumm, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
April 2, 2009
Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia
Michael P Whyte, Deborah Wenkert, William H McAlister, et al.
Bone
|
November 4, 2008
The Val432Leu polymorphism of the CYP1B1 gene is associated with differences in estrogen metabolism and bone density
Nicola Napoli, Giovam Battista Rini, Daniel Serber, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
June 23, 2018
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, et al.
American Journal of Medical Genetics. Part A
|
October 14, 2005
Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?
Carrie L Heike, Michael L Cunningham, Robert D Steiner, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
June 13, 2014
Rapid skeletal turnover in a radiographic mimic of osteopetrosis
Michael P Whyte, Katherine L Madson, Steven Mumm, et al.
Human Genetics
|
October 26, 2005
Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome
Giles D J Watts, Sarju G Mehta, Chengfeng Zhao, et al.
Page
of 9