Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Mary Ellen Little"'
Autor:
Nickolas J. Nahm, W. G. Stuart Mackenzie, William G. Mackenzie, Ethan Gough, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Peggy Modaff, Richard M. Pauli, David F. Rodriguez-Buritica, Maria Elena Serna, Cory J. Smid, Julie Hoover-Fong, Michael B. Bober
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-16 (2023)
Abstract Background The purpose of this study was to describe the frequency and risk factors for orthopedic surgery in patients with achondroplasia. CLARITY (The Achondroplasia Natural History Study) includes clinical data from achondroplasia patient
Externí odkaz:
https://doaj.org/article/7fa1cb2ab8d747c08345b444e8a29eab
Autor:
Julie Hoover-Fong, Mary Ellen Little, Janet Legare, Peggy Modaff, Lorena Dujmusic, Jacqueline Hecht, Maria Serna, S. Shahrukh Hashmi, David Rodriguez-Buritica, Michael Bober
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100533- (2023)
Externí odkaz:
https://doaj.org/article/ec3d8898ede44176b22136eb339f6073
Autor:
Julie E. Hoover-Fong, Kerry J. Schulze, Adekemi Y. Alade, Michael B. Bober, Ethan Gough, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Peggy Modaff, Richard M. Pauli, David F. Rodriguez-Buritica, Maria E. Serna, Cory Smid, Chengxin Liu, John McGready
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-19 (2021)
Abstract Background Achondroplasia is the most common genetic skeletal disorder causing disproportionate short stature/dwarfism. Common additional features include spinal stenosis, midface retrusion, macrocephaly and a generalized spondylometaphyseal
Externí odkaz:
https://doaj.org/article/707aa9ca56ec4482a21feb500c1b0dd1
Autor:
Ricki S. Carroll, Angela L. Duker, Andrea J. Schelhaas, Mary Ellen Little, Elissa G. Miller, Michael B. Bober
Publikováno v:
Palliative Medicine Reports, Vol 1, Iss 1, Pp 32-39 (2020)
Thanatophoric dysplasia (TD) is a rare skeletal dysplasia commonly thought to be lethal. In this case report, we discuss a nine-year-old male with TD and review his parents' decision making shortly after their son was born, the technology needed to s
Externí odkaz:
https://doaj.org/article/96adb5c51d0e429fb6410cc46ef36f92
Autor:
Julie Hoover-Fong, David Rodriguez-Buritica, S. Shahrukh Hashmi, Adekemi Yewande Alade, Mary Ellen Little, Jaqueline T. Hecht, Maria Elena Serna, Cory J. Smid, Chengxin Liu, Janet M. Legare, Michael B. Bober, Richard M. Pauli, Jeffrey W. Campbell, Peggy Modaff
Publikováno v:
Journal of Neurosurgery: Pediatrics. :1-7
OBJECTIVE The authors sought to determine the overall incidence of cervicomedullary decompression (CMD) in patients with achondroplasia and the characteristics associated with those surgeries across multiple institutions with experience caring for in
Autor:
Elissa G. Miller, Mary Ellen Little, Angela L. Duker, Ricki S Carroll, Michael B. Bober, Andrea J Schelhaas
Publikováno v:
Palliative Medicine Reports
Thanatophoric dysplasia (TD) is a rare skeletal dysplasia commonly thought to be lethal. In this case report, we discuss a nine-year-old male with TD and review his parents' decision making shortly after their son was born, the technology needed to s
Autor:
Maria Elena Serna, Jacqueline T. Hecht, Julie Hoover-Fong, S. Shahrukh Hashmi, David E. Tunkel, Cory J. Smid, Ethan K. Gough, Peggy Modaff, Mary Ellen Little, David Rodriguez-Buritica, Janet M. Legare, Michael B. Bober, Richard M. Pauli
Publikováno v:
The LaryngoscopeBIBLIOGRAPHY. 132(8)
OBJECTIVES/HYPOTHESIS To quantify otolaryngologic surgery utilization in patients with achondroplasia, and to identify any changes in utilization over the past four decades. STUDY DESIGN Retrospective cohort study. METHODS A retrospective cohort stud
Autor:
Julie Hoover-Fong, Maria Elena Serna, Mary Ellen Little, Chengxin Liu, Janet M. Legare, Cory J. Smid, Jacqueline T. Hecht, Adekemi Yewande Alade, Michael B. Bober, Richard M. Pauli, David Rodriguez-Buritica, S. Shahrukh Hashmi, Peggy Modaff
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(4)
Achondroplasia is the most common disproportionate short statured skeletal dysplasia with a prevalence of approximately 1:20,000-30,000. We created the largest database to date of a historical cohort of 1374 patients with achondroplasia (CLARITY-aCho
Autor:
David Rodriguez-Buritica, Mary Ellen Little, Kerry Schulze, Jacqueline T. Hecht, Julie Hoover-Fong, Adekemi Yewande Alade, John McGready, Cory J. Smid, S. Shahrukh Hashmi, Peggy Modaff, Maria Elena Serna, Chengxin Liu, Janet M. Legare, Michael B. Bober, Richard M. Pauli
Publikováno v:
Genetics in Medicine
Purpose Achondroplasia is the most common short stature skeletal dysplasia (1:20,000-30,000), but the risk of adverse health outcomes from cardiovascular diseases, pain, poor function, excess weight, and sleep apnea is unclear. A multicenter retrospe
Autor:
Mary Ellen Little, Michael B. Bober, Clare V. Logan, Jaqueline T. Hecht, Angela L. Duker, Laura S. Farach, Andrew P. Jackson
Publikováno v:
American journal of medical genetics. Part A. 176(2)
RNU4ATAC pathogenic variants to date have been associated with microcephalic osteodysplastic primordial dwarfism, type 1 and Roifman syndrome. Both conditions are clinically distinct skeletal dysplasias with microcephalic osteodysplastic primordial d