Zobrazeno 1 - 10
of 5 360
pro vyhledávání: '"campomelic dysplasia"'
Autor:
Li C; Division of Pediatric Otolaryngology-Head and Neck Surgery, Cincinnati Children's Hospital Medical Center, Department of Otolaryngology-Head and Neck Surgery, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Smith M; Division of Pediatric Otolaryngology-Head and Neck Surgery, Cincinnati Children's Hospital Medical Center, Department of Otolaryngology-Head and Neck Surgery, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Zak S; Division of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Division of Pediatrics University of Cincinnati College of Medicine, Cincinnati, OH, USA., Burg G; Division of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Division of Pediatrics University of Cincinnati College of Medicine, Cincinnati, OH, USA., Rutter M; Division of Pediatric Otolaryngology-Head and Neck Surgery, Cincinnati Children's Hospital Medical Center, Department of Otolaryngology-Head and Neck Surgery, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Publikováno v:
The Annals of otology, rhinology, and laryngology [Ann Otol Rhinol Laryngol] 2024 Dec; Vol. 133 (12), pp. 1042-1047. Date of Electronic Publication: 2024 Oct 15.
Autor:
Hossain N; Amphibian Research Center, Hiroshima University, Hiroshima, Japan.; Graduate School of Integrated Sciences for Life, Hiroshima University, Hiroshima, Japan., Igawa T; Amphibian Research Center, Hiroshima University, Hiroshima, Japan.; Graduate School of Integrated Sciences for Life, Hiroshima University, Hiroshima, Japan., Suzuki M; Amphibian Research Center, Hiroshima University, Hiroshima, Japan.; Graduate School of Integrated Sciences for Life, Hiroshima University, Hiroshima, Japan., Tazawa I; Amphibian Research Center, Hiroshima University, Hiroshima, Japan.; Graduate School of Integrated Sciences for Life, Hiroshima University, Hiroshima, Japan., Nakao Y; Amphibian Research Center, Hiroshima University, Hiroshima, Japan.; Graduate School of Integrated Sciences for Life, Hiroshima University, Hiroshima, Japan., Hayashi T; Amphibian Research Center, Hiroshima University, Hiroshima, Japan.; Graduate School of Integrated Sciences for Life, Hiroshima University, Hiroshima, Japan., Suzuki N; Amphibian Research Center, Hiroshima University, Hiroshima, Japan., Ogino H; Amphibian Research Center, Hiroshima University, Hiroshima, Japan.; Graduate School of Integrated Sciences for Life, Hiroshima University, Hiroshima, Japan.
Publikováno v:
Development, growth & differentiation [Dev Growth Differ] 2023 Oct; Vol. 65 (8), pp. 481-497. Date of Electronic Publication: 2023 Aug 17.
Autor:
Păvăloaia, Oana1, Resmeriţă, Irina1 irina.resmerita@gmail.com, Augustin, Iolanda2, Pânzaru, Monica2, Martiniuc, Violeta1, Păduraru, Luminiţa3, Gorduza, Eusebiu Vlad1,2
Publikováno v:
Archive of Clinical Cases. 2017, Vol. 4 Issue 1, p16-22. 7p.
Autor:
Narimatsu K; Department of Dentistry and Oral Surgery, Nagaoka Red Cross Hospital, Nagaoka city, Niigata, Japan., Iida A; Department of Dentistry and Oral Surgery, Nagaoka Red Cross Hospital, Nagaoka city, Niigata, Japan., Kobayashi T; Department of Dentistry and Oral Surgery, Nagaoka Red Cross Hospital, Nagaoka city, Niigata, Japan.
Publikováno v:
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association [Cleft Palate Craniofac J] 2022 Jan; Vol. 59 (1), pp. 132-136. Date of Electronic Publication: 2021 Feb 12.
Autor:
Takano T; Department of Child Health, Tokyo Kasei University, Tokyo, Japan; Department of Pediatrics, Tokyo Metropolitan Tobu Medical Center for Children with Developmental Disabilities, Tokyo, Japan. Electronic address: takano@tokyo-kasei.ac.jp., Ota H; Department of Pediatrics, Tokyo Metropolitan Tobu Medical Center for Children with Developmental Disabilities, Tokyo, Japan., Ohishi H; Department of Obstetrics and Gynecology, Center Hospital of the National Center for Global Health and Medicine, Tokyo, Japan., Hata K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan., Furukawa R; Department of Pediatric Medical Imaging, Jichi Children's Medical Center, Tochigi, Japan., Nakabayashi K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan. Electronic address: nakabaya-k@ncchd.go.jp.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2021 Nov; Vol. 64 (11), pp. 104332. Date of Electronic Publication: 2021 Sep 02.
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2023)
BackgroundCampomelic dysplasia (CD) is an autosomal dominant skeletal dysplasia syndrome characterized by shortness and bowing of lower extremities, and often accompanied by XY sex reversal. Heterozygous pathogenic variants of SOX9 or rearrangement i
Externí odkaz:
https://doaj.org/article/4bbcfbe8d98d48b8ba5894f41977fb94
Autor:
Carlos A. Calvache, Estefanía C. Vásquez, Vanessa I. Romero, Kazuyoshi Hosomichi, Juan C. Pozo
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundCampomelic dysplasia (CD) is a rare disorder that involves the skeletal and genital systems. This condition has been associated with a diverse set of mutations in the SRY-box transcription factor 9 (SOX9) gene.Case presentationWe herein rep
Externí odkaz:
https://doaj.org/article/f23161e3f8fe45eebe311f4ab9ba76aa
Autor:
Pasupathy, M.1, Radhakrishnan, Vasant1, Adenwalla, Hirji Sorab2 charlespinto102@gmail.com, Narayanan, Puthucode V.1
Publikováno v:
Indian Journal of Plastic Surgery. May/Aug2016, Vol. 49 Issue 2, p253-257. 5p. 1 Color Photograph, 5 Black and White Photographs.
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Introduction: Campomelic dysplasia (CD) is a rare autosomal dominant skeletal malformation syndrome characterized by shortness and bowing of the lower extremities with or without XY sex reversal. Diagnosis using ultrasonography is most often made in
Externí odkaz:
https://doaj.org/article/037f8c65b1e141b681ffdbc44234cb85
Autor:
Bagheri-Fam S; Department of Anatomy and Neuroscience, The University of Melbourne, Parkville, VIC 3010, Australia., Combes AN; Department of Anatomy and Neuroscience, The University of Melbourne, Parkville, VIC 3010, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Ling CK; Department of Anatomy and Neuroscience, The University of Melbourne, Parkville, VIC 3010, Australia., Wilhelm D; Department of Anatomy and Neuroscience, The University of Melbourne, Parkville, VIC 3010, Australia.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2021 Feb 04; Vol. 29 (23), pp. 3781-3792.