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Human Genetics
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December 17, 2002
Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility
Rebecca A Speckman, Jil A Wright Daw, Cynthia Helms, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
November 19, 2016
Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)
Michael P Whyte, William H McAlister, Michael D Fallon, et al.
JBMR Plus
|
August 22, 2022
Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity
Serap Turan, Steven Mumm, Ceren Alavanda, et al.
Bone
|
April 13, 2025
Duplications within exon 1 of TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK) are associated with tendon avulsion
Jill H Simmons, Edna E Mancilla, Steven Mumm, et al.
The Journal of Allergy and Clinical Immunology
|
March 11, 2011
Nonlesional atopic dermatitis skin is characterized by broad terminal differentiation defects and variable immune abnormalities
Mayte Suárez-Fariñas, Suzanne J Tintle, Avner Shemer, et al.
Bone
|
August 7, 2025
Corrigendum to "Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631)" [Bone 197 (2025) 117477]
Steven Mumm, José L Paz-Ibarra, Philippe M Campeau, et al.
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
|
December 18, 2019
Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?
Michael P Whyte, S Deepak Amalnath, William H McAlister, 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.
Page
of 3
Search research articles
Search
Showing results (11-20 of 30) with videos related to
Sort By:
Page
of 3
Human Genetics
|
December 17, 2002
Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility
Rebecca A Speckman, Jil A Wright Daw, Cynthia Helms, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
November 19, 2016
Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)
Michael P Whyte, William H McAlister, Michael D Fallon, et al.
JBMR Plus
|
August 22, 2022
Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity
Serap Turan, Steven Mumm, Ceren Alavanda, et al.
Bone
|
April 13, 2025
Duplications within exon 1 of TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK) are associated with tendon avulsion
Jill H Simmons, Edna E Mancilla, Steven Mumm, et al.
The Journal of Allergy and Clinical Immunology
|
March 11, 2011
Nonlesional atopic dermatitis skin is characterized by broad terminal differentiation defects and variable immune abnormalities
Mayte Suárez-Fariñas, Suzanne J Tintle, Avner Shemer, et al.
Bone
|
August 7, 2025
Corrigendum to "Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631)" [Bone 197 (2025) 117477]
Steven Mumm, José L Paz-Ibarra, Philippe M Campeau, et al.
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
|
December 18, 2019
Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?
Michael P Whyte, S Deepak Amalnath, William H McAlister, 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.
Page
of 3