Zobrazeno 1 - 10
of 291
pro vyhledávání: '"Matthew B. Dobbs"'
Autor:
Jennifer McAdow, Shuo Yang, Tiffany Ou, Gary Huang, Matthew B. Dobbs, Christina A. Gurnett, Michael J. Greenberg, Aaron N. Johnson
Publikováno v:
JCI Insight, Vol 7, Iss 12 (2022)
Nemaline myopathy (NM) is the most common congenital myopathy, characterized by extreme weakness of the respiratory, limb, and facial muscles. Pathogenic variants in Tropomyosin 2 (TPM2), which encodes a skeletal muscle–specific actin binding prote
Externí odkaz:
https://doaj.org/article/ba6c69f778b743b2900f4c656ecda107
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 18, Iss 1, Pp 1-3 (2020)
Abstract There is increasing concern about the emerging global non-communicable diseases (NCDs) burden. The focus has mainly been on NCDs in adults but it is important that MSK morbidity in both children and adults is included in strategic planning.
Externí odkaz:
https://doaj.org/article/650a2d2498bd4f009256bccb0e322637
Autor:
Gabe Haller, Kevin McCall, Supak Jenkitkasemwong, Brooke Sadler, Lilian Antunes, Momchil Nikolov, Julia Whittle, Zachary Upshaw, Jimann Shin, Erin Baschal, Carlos Cruchaga, Matthew Harms, Cathleen Raggio, Jose A. Morcuende, Philip Giampietro, Nancy H. Miller, Carol Wise, Ryan S. Gray, Lila Solnica-Krezel, Mitchell Knutson, Matthew B. Dobbs, Christina A. Gurnett
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-7 (2018)
The majority of scoliosis is considered idiopathic with onset in adolescence (AIS) and has a genetic contribution. Here, the authors perform an exome wide association study of data from 457 severe AIS cases and 987 controls, and find a missense varia
Externí odkaz:
https://doaj.org/article/04b3d3a563384542b1a9a97bf011c0d4
Autor:
Seth S. Leopold, Matthew B. Dobbs, Mark C. Gebhardt, Terence J. Gioe, Paul A. Manner, Raphaël Porcher, Clare M. Rimnac, Montri D. Wongworawat
Publikováno v:
Clin Orthop Relat Res
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba262719c2c3507db115c7a5fddf19e4
https://doi.org/10.1097/corr.0000000000002376
https://doi.org/10.1097/corr.0000000000002376
Autor:
Wu Lin Charng, Jacqueline T. Hecht, Lilian Antunes, Christina A. Gurnett, A. Quiggle, Momchil Nikolov, Xavier Bledsoe, Matthew B. Dobbs
Publikováno v:
Clinical Orthopaedics & Related Research. 480:421-430
BACKGROUND Clubfoot, a congenital deformity that presents as a rigid, inward turning of the foot, affects approximately 1 in 1000 infants and occurs as an isolated birth defect in 80% of patients. Despite its high level of heritability, few causative
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f8e19db5b71528386e153947bc376acd
https://doi.org/10.1097/corr.0000000000001957
https://doi.org/10.1097/corr.0000000000001957
Autor:
Devon C. Nixon, Sami Mardam-Bey, Mark L. Miller, Matthew B. Dobbs, Perry L. Schoenecker, Scott J. Luhmann, J. Eric Gordon
Publikováno v:
Journal of orthopaedic trauma. 36(12)
To examine the effectiveness and complication rates in age- and size-appropriate patients with either stable or unstable fracture patterns treated with elastic stable intramedullary nailing (ESIN).Retrospective case series.Academic tertiary care chil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b13a31e3b7547375b5440da10165d98
https://pubmed.ncbi.nlm.nih.gov/36399677
https://pubmed.ncbi.nlm.nih.gov/36399677
Autor:
Melisa N. Bayrak, Xiaomi Chen, Morgan R. Bland, Matthew R.G. Taylor, Lilian Antunes, Maria V. Cattell, Ryan S. Gray, Christina A. Gurnett, Lee Niswander, Erin E. Baschal, Melissa T Cuevas, Matthew B. Dobbs, Kenneth L. Jones, Nancy H. Miller, Bruce Appel, Cambria I Wethey, Anna M. Monley, Brittan S Sutphin, George Devon Trahan, Elizabeth A Terhune
Publikováno v:
Hum Mutat
Idiopathic scoliosis (IS) is a spinal disorder affecting up to 3% of otherwise healthy children. IS has a strong familial genetic component and is believed to be genetically complex due to significant variability in phenotype and heritability. Previo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3544f67d511c7162ffcc80a7fba0dd4d
https://doi.org/10.1002/humu.24162
https://doi.org/10.1002/humu.24162
Publikováno v:
Eur J Med Genet
BACKGROUND: Congenital vertical talus (CVT), also known as “rocker-bottom foot”, is a rare foot deformity associated with a dislocation of the talonavicular joint. Although genetic causes of CVT have been described in single isolated and syndromi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83920d01cf1734138dc983a5fdf7b9cb
https://europepmc.org/articles/PMC10039454/
https://europepmc.org/articles/PMC10039454/
Autor:
Matthew B. Dobbs, Perry L. Schoenecker, J. Eric Gordon, Scott J. Luhmann, Daniel G. Hoernschemeyer, John T Anderson
Publikováno v:
The Bone & Joint Journal. :1056-1061
Aims Current American Academy of Orthopaedic Surgeons (AAOS) guidelines for treating femoral fractures in children aged two to six years recommend early spica casting although some individuals have recommended intramedullary stabilization in this age
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9e22af216db531ee639db7240db43266
https://doi.org/10.1302/0301-620x.102b8.bjj-2019-1060.r3
https://doi.org/10.1302/0301-620x.102b8.bjj-2019-1060.r3
Autor:
Momchil Nikolov, Lilian Antunes, Bradley Coe, Matthew B. Dobbs, Christina A. Gurnett, Ina E Amarillo, Brooke Sadler, Gabe Haller
Publikováno v:
Journal of Medical Genetics. 57:851-857
IntroductionCongenital clubfoot is a common birth defect that affects at least 0.1% of all births. Nearly 25% cases are familial and the remaining are sporadic in inheritance. Copy number variants (CNVs) involving transcriptional regulators of limb d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::223af06e00565c33b1d788979dcd9b28
https://doi.org/10.1136/jmedgenet-2020-106842
https://doi.org/10.1136/jmedgenet-2020-106842