Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Peggy Modaff"'
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
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Abstract Background Achondroplasia is the most common dwarfing disorder. It can result in a variety of sequelae, including neurologic complications, among which high cervical myelopathy is one of particular concern. However, some individuals with ach
Externí odkaz:
https://doaj.org/article/7c0a9e2369dc4c9f9b0a982440910559
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::246a27bed6f2cdad6773d8c613643095
https://doi.org/10.3171/2020.12.peds20715
https://doi.org/10.3171/2020.12.peds20715
Autor:
Bobby K. Brar, Michael B. Bober, Ethan Gough, S Shahrukh Hashmi, Jacqueline T. Hecht, Lorena Dujmusic, Mary E. Little, Peggy Modaff, Richard M. Pauli, David F. Rodriguez – Buritica, Maria E. Serna, Cory Smid, Janet M. Legare, Julie E. Hoover - Fong
Publikováno v:
Genetics in Medicine. :100845
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cedf41809c8bbf80bcaf66efe399d0f8
https://doi.org/10.1016/j.gim.2023.100845
https://doi.org/10.1016/j.gim.2023.100845
Autor:
Bobby Brar, Julie E. Hoover-Fong, Ethan Gough, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Lorena Dujmusic, Mary E. Little, Peggy Modaff, Richard M. Pauli, David Rodriguez – Buritica, Maria E. Serna, Cory Smid, Michael B. Bober
Publikováno v:
American Journal of Obstetrics and Gynecology. 228:S612
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cd981b814079ac4a6bffc1e4c6300e21
https://doi.org/10.1016/j.ajog.2022.11.1038
https://doi.org/10.1016/j.ajog.2022.11.1038
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e641962fea073b0e5f0da7b1a717101
https://pubmed.ncbi.nlm.nih.gov/34708868
https://pubmed.ncbi.nlm.nih.gov/34708868
Publikováno v:
Molecular Syndromology. 10:154-160
TRPV4, a nonselective calcium permeable ion channel, is expressed broadly in many organs including bone and neurons. Pathogenic variants in TRPV4 are known to cause both a spectrum of skeletal dysplasias and neuropathies. Recent publications have doc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efebf7e5cc45bb7fc6bbe360480b9473
https://doi.org/10.1159/000495778
https://doi.org/10.1159/000495778
Publikováno v:
Acta paediatrica (Oslo, Norway : 1992)REFERENCES. 110(6)
Aim To assess the clinical picture underlying apparent life-threatening events (ALTEs) occurring in infants with achondroplasia and provide guidance for evaluation after an event. Methods A population of 477 individuals with achondroplasia was retros
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44c9ef92518b821fccccf47effab11f4
https://pubmed.ncbi.nlm.nih.gov/33452838
https://pubmed.ncbi.nlm.nih.gov/33452838