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Quoted phrase not found in phrase index: "Abnormal rib morphology"
Page 1
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA; Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies; Harris PC. Senum SR, et al. Am J Hum Genet. 2022 Jan 6;109(1):136-156. doi: 10.1016/j.ajhg.2021.11.016. Epub 2021 Dec 9. Am J Hum Genet. 2022. PMID: 34890546 Free PMC article.
IFT140 is a core component of the intraflagellar transport-complex A, responsible for retrograde ciliary trafficking and ciliary entry of membrane proteins; bi-allelic IFT140 variants cause the syndromic ciliopathy, short-rib thoracic dysplasia (SRTD9). The distinctive mon …
IFT140 is a core component of the intraflagellar transport-complex A, responsible for retrograde ciliary trafficking and ciliary entry of me …
Sprengel's Deformity.
Khan Durrani MY, Sohail AH, Khan I, Hashmi P. Khan Durrani MY, et al. J Ayub Med Coll Abbottabad. 2018 Jan-Mar;30(1):135-137. J Ayub Med Coll Abbottabad. 2018. PMID: 29504352 Free article.
Sprengel's deformity is dysplasia and malposition of the scapula, especially in the supraspinatus portion, mainly due to abnormal descent in the embryonic period. The clavicle is shorter and has a different contour. ...Sprengel's deformity is a male predominant disease whi …
Sprengel's deformity is dysplasia and malposition of the scapula, especially in the supraspinatus portion, mainly due to abnormal des …
TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.
Li G, Strong A, Wang H, Kim JS, Watson D, Zhao S, Vaccaro C, Hartung E, Hakonarson H, Zhang TJ, Giampietro PF, Wu N. Li G, et al. Am J Med Genet A. 2022 Dec;188(12):3469-3481. doi: 10.1002/ajmg.a.62972. Epub 2022 Sep 26. Am J Med Genet A. 2022. PMID: 36161696 Free PMC article.
Heterozygous and biallelic variants in TBX6 are associated with vertebral and rib malformations (TBX6-associated congenital scoliosis) and spondylocostal dysostosis, and heterozygous TBX6 variants are associated with increased risk of genitourinary tract malformatio …
Heterozygous and biallelic variants in TBX6 are associated with vertebral and rib malformations (TBX6-associated congenital sc …
Skeletal ciliopathies: a pattern recognition approach.
Handa A, Voss U, Hammarsjö A, Grigelioniene G, Nishimura G. Handa A, et al. Jpn J Radiol. 2020 Mar;38(3):193-206. doi: 10.1007/s11604-020-00920-w. Epub 2020 Jan 21. Jpn J Radiol. 2020. PMID: 31965514 Review.
Common skeletal ciliopathies include Jeune asphyxiating thoracic dysplasia, Ellis-van Creveld syndrome, Sensenbrenner syndrome, and short-rib polydactyly syndromes. These disorders share common clinical and radiological features. ...Skeletal ciliopathies are commonly assoc …
Common skeletal ciliopathies include Jeune asphyxiating thoracic dysplasia, Ellis-van Creveld syndrome, Sensenbrenner syndrome, and short- …
Incidental posterior rib hyperostosis on chest CT: incidence and etiology.
Frager L, Heaton D, Walker CM, Young K, Everist BM. Frager L, et al. Skeletal Radiol. 2022 Jun;51(6):1173-1178. doi: 10.1007/s00256-021-03933-2. Epub 2021 Oct 18. Skeletal Radiol. 2022. PMID: 34664089
There was good inter-reader reliability for the presence of rib hyperostosis with a kappa estimate of 0.739. CONCLUSION: Incidentally detected rib hyperostosis is most likely the sequela of abnormal stress on the ribs secondary to rib hypomobility from …
There was good inter-reader reliability for the presence of rib hyperostosis with a kappa estimate of 0.739. CONCLUSION: Incidentally …
Ciliary Dyneins and Dynein Related Ciliopathies.
Antony D, Brunner HG, Schmidts M. Antony D, et al. Cells. 2021 Jul 25;10(8):1885. doi: 10.3390/cells10081885. Cells. 2021. PMID: 34440654 Free PMC article. Review.
Morphological patterns of the rib cage and lung in the healthy and adolescent idiopathic scoliosis.
Schlager B, Krump F, Boettinger J, Jonas R, Liebsch C, Ruf M, Beer M, Wilke HJ. Schlager B, et al. J Anat. 2022 Jan;240(1):120-130. doi: 10.1111/joa.13528. Epub 2021 Aug 3. J Anat. 2022. PMID: 34346505 Free PMC article.
The morphology of the rib cage affects both the biomechanics of the upper body's musculoskeletal structure and the respiratory mechanics. ...Morphological parameters were calculated based on the distances between characteristic morphological landmarks. These paramet …
The morphology of the rib cage affects both the biomechanics of the upper body's musculoskeletal structure and the respiratory …
Ciliary disorder of the skeleton.
Huber C, Cormier-Daire V. Huber C, et al. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):165-74. doi: 10.1002/ajmg.c.31336. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791528 Review.
In the last 10 years, the primary cilia machinery has been implicated in more than a dozen disorders united as ciliopathies, including skeletal dysplasias, such as Jeune syndrome and short rib-polydactyly type III. Indeed, primary cilia play a vital role in transduction of …
In the last 10 years, the primary cilia machinery has been implicated in more than a dozen disorders united as ciliopathies, including skele …
Assessment of breast problems.
Fentiman IS, Hamed H. Fentiman IS, et al. Int J Clin Pract. 2001 Sep;55(7):458-60. Int J Clin Pract. 2001. PMID: 11594255 Review.
Careful examination will detect those individuals with underlying rib cage pain who can be reassured and given analgesics, if necessary, but not referred. ...
Careful examination will detect those individuals with underlying rib cage pain who can be reassured and given analgesics, if necessa …
Thoracoscopic Rib Resection in Children.
Alshammari DM, Talon I, Rod J, Schneider A, Lavrand F, Piolat C, Gelas T, Hameury F, Sica M, Gicquel P, Flaum V, Becmeur F. Alshammari DM, et al. J Laparoendosc Adv Surg Tech A. 2018 Jan;28(1):106-110. doi: 10.1089/lap.2017.0131. Epub 2017 Oct 26. J Laparoendosc Adv Surg Tech A. 2018. PMID: 29072964
OBJECTIVE: The authors present a multicenter retrospective series of different benign rib lesions in children operated on using thoracoscopy. MATERIALS AND METHODS: Between 2005 and 2015, 17 rib resections were performed thoracoscopically, in four French departments …
OBJECTIVE: The authors present a multicenter retrospective series of different benign rib lesions in children operated on using thora …
439 results