Results
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Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy. [electronic resource] 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
Producer: 20130626
In:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research vol. 28
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102.
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Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis? [electronic resource] by
- Heike, Carrie L
- Cunningham, Michael L
- Steiner, Robert D
- Wenkert, Deborah
- Hornung, Robin L
- Gruss, Joseph S
- Gannon, Francis H
- McAlister, William H
- Mumm, Steven
- Whyte, Michael P
Producer: 20060424
In:
American journal of medical genetics. Part A vol. 139A
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103.
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Skeletal fluorosis in a resettled refugee from Kakuma refugee camp. [electronic resource] by
- Fabreau, Gabriel E
- Bauman, Paul
- Coakley, Annalee L
- Johnston, Kelly
- Kennel, Kurt A
- Gifford, Jessica L
- Sadrzadeh, Hossein Mh
- Whitford, Gary M
- Whyte, Michael P
- Kline, Gregory A
Producer: 20190207
In:
Lancet (London, England) vol. 393
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104.
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Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis. [electronic resource] 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
Producer: 20191024
In:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research vol. 33
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105.
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Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome. [electronic resource] by
- Watts, Giles D J
- Mehta, Sarju G
- Zhao, Chengfeng
- Ramdeen, Sheena
- Hamilton, Sara Jane
- Novack, Deborah V
- Mumm, Steven
- Whyte, Michael P
- Mc Gillivray, Barbara
- Kimonis, Virginia E
Producer: 20060321
In:
Human genetics vol. 118
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106.
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Rapid skeletal turnover in a radiographic mimic of osteopetrosis. [electronic resource] 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
Producer: 20150714
In:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research vol. 29
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107.
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Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. [electronic resource] by
- Shore, Eileen M
- Ahn, Jaimo
- Jan de Beur, Suzanne
- Li, Ming
- Xu, Meiqi
- Gardner, R J McKinlay
- Zasloff, Michael A
- Whyte, Michael P
- Levine, Michael A
- Kaplan, Frederick S
Producer: 20020124
In:
The New England journal of medicine vol. 346
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108.
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Enzyme replacement therapy for murine hypophosphatasia. [electronic resource] by
- Millán, José Luis
- Narisawa, Sonoko
- Lemire, Isabelle
- Loisel, Thomas P
- Boileau, Guy
- Leonard, Pierre
- Gramatikova, Svetlana
- Terkeltaub, Robert
- Camacho, Nancy Pleshko
- McKee, Marc D
- Crine, Philippe
- Whyte, Michael P
Producer: 20080812
In:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research vol. 23
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109.
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Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. [electronic resource] by
- Whyte, Michael P
- Zhang, Fan
- Wenkert, Deborah
- McAlister, William H
- Mack, Karen E
- Benigno, Marci C
- Coburn, Stephen P
- Wagy, Susan
- Griffin, Donna M
- Ericson, Karen L
- Mumm, Steven
Producer: 20160106
In:
Bone vol. 75
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110.
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AP2σ Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity. [electronic resource] by
- Gorvin, Caroline M
- Rogers, Angela
- Hastoy, Benoit
- Tarasov, Andrei I
- Frost, Morten
- Sposini, Silvia
- Inoue, Asuka
- Whyte, Michael P
- Rorsman, Patrik
- Hanyaloglu, Aylin C
- Breitwieser, Gerda E
- Thakker, Rajesh V
Producer: 20190715
In:
Cell reports vol. 22
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111.
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Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7). [electronic resource] by
- 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
Producer: 20210617
In:
Bone vol. 137
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112.
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Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. [electronic resource] 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
Producer: 20130326
In:
Human molecular genetics vol. 21
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113.
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Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: A case-control study. [electronic resource] by
- Frost, Morten
- Tencerova, Michaela
- Andreasen, Christina M
- Andersen, Thomas L
- Ejersted, Charlotte
- Svaneby, Dea
- Qui, Weimin
- Kassem, Moustapha
- Zarei, Allahdad
- McAlister, William H
- Veis, Deborah J
- Whyte, Michael P
- Frederiksen, Anja L
Producer: 20200420
In:
Bone vol. 121
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114.
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Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65). [electronic resource] 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
Producer: 20161031
In:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research vol. 31
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115.
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Panostotic expansile bone disease with massive jaw tumor formation and a novel mutation in the signal peptide of RANK. [electronic resource] 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
Producer: 20141203
In:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research vol. 29
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116.
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Asfotase alfa therapy for children with hypophosphatasia. [electronic resource] by
- Whyte, Michael P
- Madson, Katherine L
- Phillips, Dawn
- Reeves, Amy L
- McAlister, William H
- Yakimoski, Amy
- Mack, Karen E
- Hamilton, Kim
- Kagan, Kori
- Fujita, Kenji P
- Thompson, David D
- Moseley, Scott
- Odrljin, Tatjana
- Rockman-Greenberg, Cheryl
Producer: 20180920
In:
JCI insight vol. 1
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117.
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Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation. [electronic resource] by
- 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
Producer: 20210617
In:
Bone vol. 130
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118.
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Burosumab Therapy in Children with X-Linked Hypophosphatemia. [electronic resource] by
- Carpenter, Thomas O
- Whyte, Michael P
- Imel, Erik A
- Boot, Annemieke M
- Högler, Wolfgang
- Linglart, Agnès
- Padidela, Raja
- Van't Hoff, William
- Mao, Meng
- Chen, Chao-Yin
- Skrinar, Alison
- Kakkis, Emil
- San Martin, Javier
- Portale, Anthony A
Producer: 20180604
In:
The New England journal of medicine vol. 378
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119.
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Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. [electronic resource] by
- 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
Producer: 20080416
In:
American journal of medical genetics. Part A vol. 146A
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120.
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Marrow cell transplantation for infantile hypophosphatasia. [electronic resource] 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
Producer: 20031204
In:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research vol. 18
Availability: No items available.
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