Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Cathy L. Raggio"'
Publikováno v:
Genes. 13:1194
In this Special Issue of Genes entitled “Genetic Conditions Affecting the Skeleton: Congenital, Idiopathic Scoliosis and Arthrogryposis”, evidence is presented which suggests that congenital, idiopathic scoliosis, and arthrogryposis share similar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14b79eacf9517b149dbda13cc0ee5d0d
https://doi.org/10.3390/genes13071194
https://doi.org/10.3390/genes13071194
Autor:
Robert D. Steiner, Yael Lebenthal, Aideen M. McInerney-Leo, Yline Capri, Daphné Lehalle, Adi Mory, Grażyna G Krzemień, Cathy L. Raggio, Monika Miklaszewska, Robert D. Blank, Hila Milo Rasouly, Ali G. Gharavi, Annabelle Enriquez, David T. Humphreys, Emma L. Duncan, Gavin Chapman, Elizabeth Wohler, Paul Leo, Jeanne Amiel, Eddie Ip, Clémantine Dimartino, Christopher T. Gordon, Yael Wilnai, Eleni Giannoulatou, Duncan B. Sparrow, Joelene A Greasby, Hagit Baris Feldman, Delicia Sheng, Rebekah Jobling, Kavitha R Iyer, Philip F Giampietro, Ella M M A Martin, Sally L. Dunwoodie, Nara Sobreira
Publikováno v:
Hum Mol Genet
The genetic causes of multiple congenital anomalies are incompletely understood. Here, we report novel heterozygous predicted loss-of-function (LoF) and predicted damaging missense variants in the WW domain binding protein 11 (WBP11) gene in seven un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d9229c8b2fbc5fe323701900de73f4f
https://doi.org/10.1093/hmg/ddaa258
https://doi.org/10.1093/hmg/ddaa258
Autor:
Sally L. Dunwoodie, Nancy Hadley-Miller, Kenneth M.C. Cheung, Ryan S. Gray, Carol Wise, Christina A. Gurnett, Philip F. Giampietro, Peter D. Turnpenny, Olivier Pourquié, Kenro Kusumi, Cathy L. Raggio, Shiro Ikegawa, Benjamin A. Alman
Publikováno v:
American Journal of Medical Genetics Part A. 176:253-256
Scoliosis represents the most common musculoskeletal disorder in children and affects approximately 3% of the world population. Scoliosis is separated into two major phenotypic classifications: congenital and idiopathic. Idiopathic scoliosis is defin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c61e6c1e03b98f91b4c8f1be9a7866c
https://doi.org/10.1002/ajmg.a.38550
https://doi.org/10.1002/ajmg.a.38550
Autor:
Matthew A. Halanski, Gavin Chapman, Nan Wu, Elizabeth Wohler, Robert D. Blank, Sarah Sund, Blaise A. Nemeth, Nara Sobreira, Philip F Giampietro, Guixing Qiu, Ken Noonan, Sally L. Dunwoodie, Robert D. Steiner, Jianguo Zhang, Sen Zhao, Renan Paulo Martin, Ingrid Glurich, Jianxiong Shen, Noura Al Dhaheri, Zhihong Wu, Cathy L. Raggio
Publikováno v:
Am J Med Genet A
Vertebral malformations (VMs) are caused by alterations in somitogenesis and may occur in association with other congenital anomalies. The genetic etiology of most VMs remains unknown and their identification may facilitate the development of novel t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6a1f7b8cd4b48f52b9e1caa1bf6a8aa
https://pubmed.ncbi.nlm.nih.gov/32369272
https://pubmed.ncbi.nlm.nih.gov/32369272
Autor:
Alberto Santiago-Cornier, Robert D. Blank, Alexander Stoddard, David A. Sweetser, Michael A. Pickart, Enid Neptune, Nara Sobrera, Rachel Lorier, Philip F. Giampietro, Linlea Armstrong, Kristen Rasmussen, Amy Turner, Ulrich Broeckel, Sarah Sund, Cathy L. Raggio, Janet Livingston
Publikováno v:
American Journal of Medical Genetics Part A. 167:95-102
We report on a father and his two daughters diagnosed with Klippel–Feil syndrome (KFS) but with craniofacial differences (zygomatic and mandibular hypoplasia and cleft palate) and external ear abnormalities suggestive of Treacher Collins syndrome (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48cffd202acd29e60f9f4e56cee2fe42
https://doi.org/10.1002/ajmg.a.36799
https://doi.org/10.1002/ajmg.a.36799
Publikováno v:
Open Journal of Orthopedics. :62-68
Understanding the genetic component of scoliosis in humans has relied on the assumption that spine development is conserved across species. Since evolutionary conserved genes tend to lie within synteny blocks (HSBs) and genes which are not conserved
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8e6fb84989ac72cb4da55cfcda3e6805
https://doi.org/10.4236/ojo.2012.22013
https://doi.org/10.4236/ojo.2012.22013
Publikováno v:
Clinical Reviews in Bone and Mineral Metabolism. 6:46-52
Homocystinuria and Marfan syndrome represent distinct genetic conditions that share phenotypically similar skeletal features. An overview of the current understanding of genetic and physiologic contributing to the etiology of these conditions is summ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ab1e8f249078c494d3a72ebd80f2277f
https://doi.org/10.1007/s12018-008-9018-2
https://doi.org/10.1007/s12018-008-9018-2
Publikováno v:
Journal of Medical Genetics. 51:354-354
To The Editor: We have read the paper by Postma et al 1 in the recent Journal of Medical Genetics describing a homozygous missense mutation, p.H171R T(brachyury) in three consanguineous families with sacral agenesis, persistent notochord and abnormal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f48c2dfab59886bf6a90faffc8dc3ce
https://doi.org/10.1136/jmedgenet-2014-102308
https://doi.org/10.1136/jmedgenet-2014-102308