Zobrazeno 1 - 10
of 298
pro vyhledávání: '"Jacqueline T, Hecht"'
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:
Kelsey Robinson, Trenell J. Mosley, Kenneth S. Rivera-González, Christopher R. Jabbarpour, Sarah W. Curtis, Wasiu Lanre Adeyemo, Terri H. Beaty, Azeez Butali, Carmen J. Buxó, David J. Cutler, Michael P. Epstein, Lord J.J. Gowans, Jacqueline T. Hecht, Jeffrey C. Murray, Gary M. Shaw, Lina Moreno Uribe, Seth M. Weinberg, Harrison Brand, Mary L. Marazita, Robert J. Lipinski, Elizabeth J. Leslie
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100234- (2023)
Summary: Cleft palate (CP) is one of the most common craniofacial birth defects; however, there are relatively few established genetic risk factors associated with its occurrence despite high heritability. Historically, CP has been studied as a singl
Externí odkaz:
https://doaj.org/article/d701a794d6d64abda81ebac6e8be9898
Autor:
Lorena Maili, Bhavna Tandon, Qiuping Yuan, Simone Menezes, Frankie Chiu, S. Shahrukh Hashmi, Ariadne Letra, George T. Eisenhoffer, Jacqueline T. Hecht
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Craniofacial development is a complex and tightly regulated process and disruptions can lead to structural birth defects, the most common being nonsyndromic cleft lip and palate (NSCLP). Previously, we identified FOS as a candidate regulator of NSCLP
Externí odkaz:
https://doaj.org/article/b8947a3aa9854a0798e4c7d5d1bfb66c
Autor:
Ronilo Ragodos, Tong Wang, Carmencita Padilla, Jacqueline T. Hecht, Fernando A. Poletta, Iêda M. Orioli, Carmen J. Buxó, Azeez Butali, Consuelo Valencia-Ramirez, Claudia Restrepo Muñeton, George L. Wehby, Seth M. Weinberg, Mary L. Marazita, Lina M. Moreno Uribe, Brian J. Howe
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)
Abstract Children with orofacial clefting (OFC) present with a wide range of dental anomalies. Identifying these anomalies is vital to understand their etiology and to discern the complex phenotypic spectrum of OFC. Such anomalies are currently ident
Externí odkaz:
https://doaj.org/article/3800fcecdedd481ebcf9fe8c511f1042
Publikováno v:
Archives of Plastic Surgery, Vol 49, Iss 04, Pp 517-522 (2022)
Adams-Oliver syndrome is a well-recognized autosomal dominant disorder for which mutations in six genes are etiologic, but account for only one-third of the cases. We report a patient with two genetic disorders; Adams-Oliver and Xp22.33 deletion synd
Externí odkaz:
https://doaj.org/article/9355d642559b42869d3fe39aa20f37c2
Autor:
Lorena Maili, Oscar E. Ruiz, Philip H. Kahan, Frankie Chiu, Stephen T. Larson, S. Shahrukh Hashmi, Jacqueline T. Hecht, George T. Eisenhoffer
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 6 (2023)
Externí odkaz:
https://doaj.org/article/a3ff8240280d45c0b8a8a920f3710f7b
Autor:
Jacqueline T. Hecht, Alka C. Veerisetty, Debabrata Patra, Mohammad G. Hossain, Frankie Chiu, Claire Mobed, Francis H. Gannon, Karen L. Posey
Publikováno v:
Biomolecules, Vol 13, Iss 10, p 1553 (2023)
Pseudoachondroplasia (PSACH), a severe dwarfing condition associated with early-onset joint degeneration and lifelong joint pain, is caused by mutations in cartilage oligomeric matrix protein (COMP). The mechanisms underlying the mutant-COMP patholog
Externí odkaz:
https://doaj.org/article/b610757a893145d5a7269de90cf02d63
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:
Rasha N. Alotaibi, Brian J. Howe, Jonathan M. Chernus, Nandita Mukhopadhyay, Carla Sanchez, Frederic W. B. Deleyiannis, Katherine Neiswanger, Carmencita Padilla, Fernando A. Poletta, Ieda M. Orioli, Carmen J. Buxó, Jacqueline T. Hecht, George L. Wehby, Ross E. Long, Alexandre R. Vieira, Seth M. Weinberg, John R. Shaffer, Lina M. Moreno Uribe, Mary L. Marazita
Publikováno v:
BMC Oral Health, Vol 21, Iss 1, Pp 1-11 (2021)
Abstract Background Dental caries is one of the most common chronic diseases and is influenced by a complex interplay of genetic and environmental factors. Most previous genetic studies of caries have focused on identifying genes that contribute to d
Externí odkaz:
https://doaj.org/article/7e1cb49b8d3c4ae58f9dc61b99d267ba
Autor:
Dongjing Liu, Nora Alhazmi, Harold Matthews, Myoung Keun Lee, Jiarui Li, Jacqueline T. Hecht, George L. Wehby, Lina M. Moreno, Carrie L. Heike, Jasmien Roosenboom, Eleanor Feingold, Mary L. Marazita, Peter Claes, Eric C. Liao, Seth M. Weinberg, John R. Shaffer
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract The contribution of low-frequency variants to the genetic architecture of normal-range facial traits is unknown. We studied the influence of low-frequency coding variants (MAF
Externí odkaz:
https://doaj.org/article/1f6e2e4e71fb416a9663c9577931071c