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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1951 1
1954 1
1966 1
1970 2
1972 1
1974 3
1975 5
1976 7
1977 3
1978 2
1980 7
1981 3
1982 4
1983 8
1984 5
1985 4
1986 5
1987 8
1988 4
1989 6
1990 3
1991 5
1992 2
1993 7
1994 8
1995 10
1996 10
1997 10
1998 11
1999 20
2000 11
2001 11
2002 10
2003 19
2004 23
2005 16
2006 12
2007 13
2008 12
2009 24
2010 24
2011 19
2012 18
2013 28
2014 30
2015 25
2016 25
2017 11
2018 21
2019 15
2020 14
2021 16
2022 9
2023 8
2024 6

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527 results

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Quoted phrase not found in phrase index: "Abnormal rib morphology"
Page 1
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, Sanchez JAO, Nevarez L, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics; Lachman RS, Krakow D, Cohn DH. Zhang W, et al. Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6. Hum Mutat. 2018. PMID: 29068549 Free PMC article.
A subset of these disorders is distinguished by profound abnormalities of the skeleton that include a long narrow chest with markedly short ribs, extremely short limbs, and polydactyly. These include the perinatal lethal short-rib polydactyly syndromes (SRPS) and th …
A subset of these disorders is distinguished by profound abnormalities of the skeleton that include a long narrow chest with markedly …
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 …
Complex lymphatic anomalies.
Trenor CC 3rd, Chaudry G. Trenor CC 3rd, et al. Semin Pediatr Surg. 2014 Aug;23(4):186-90. doi: 10.1053/j.sempedsurg.2014.07.006. Epub 2014 Jul 22. Semin Pediatr Surg. 2014. PMID: 25241096 Review.
Biopsy may be needed for diagnosis, though avoidance of rib biopsy is advised to prevent iatrogenic chronic pleural effusion. Lymphangiography can visualize the anatomy and function of the lymphatic system and may identify dysfunction of the thoracic duct in central …
Biopsy may be needed for diagnosis, though avoidance of rib biopsy is advised to prevent iatrogenic chronic pleural effusion. Lymphan …
The etiology, clinical features, and treatment options of hemifacial microsomia.
Luo S, Sun H, Bian Q, Liu Z, Wang X. Luo S, et al. Oral Dis. 2023 Sep;29(6):2449-2462. doi: 10.1111/odi.14508. Epub 2023 Mar 13. Oral Dis. 2023. PMID: 36648381 Review.
The second most frequent craniomaxillofacial congenital deformity is hemifacial microsomia (HFM). Patients often accompany short mandible, ear dysplasia, facial nerve, and soft tissue dysplasia. ...Reviewing the potential causes, exploring the clinical features of HFM and …
The second most frequent craniomaxillofacial congenital deformity is hemifacial microsomia (HFM). Patients often accompany short mand …
Controversies surrounding Jarcho-Levin syndrome.
Cornier AS, Ramirez N, Carlo S, Reiss A. Cornier AS, et al. Curr Opin Pediatr. 2003 Dec;15(6):614-20. doi: 10.1097/00008480-200312000-00012. Curr Opin Pediatr. 2003. PMID: 14631208 Review.
PURPOSE OF THE REVIEW: Jarcho-Levin syndrome is an eponym that has been used to describe a variety of clinical phenotypes consisting of short-trunk dwarfism associated with rib and vertebral anomalies. This admixture of phenotypes under Jarcho-Levin syndrome has allowed so …
PURPOSE OF THE REVIEW: Jarcho-Levin syndrome is an eponym that has been used to describe a variety of clinical phenotypes consisting of shor …
Sprengel deformity: pathogenesis and management.
Harvey EJ, Bernstein M, Desy NM, Saran N, Ouellet JA. Harvey EJ, et al. J Am Acad Orthop Surg. 2012 Mar;20(3):177-86. doi: 10.5435/JAAOS-20-03-177. J Am Acad Orthop Surg. 2012. PMID: 22382290 Review.
Sprengel deformity (ie, congenital elevation of the scapula) is a rare clinical entity. However, it is the most common congenital anomaly of the shoulder. ...Diagnostic confusion with limited scoliosis can be dangerous to the patient because it may delay proper trea …
Sprengel deformity (ie, congenital elevation of the scapula) is a rare clinical entity. However, it is the most common congenital …
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 …
Chondrosarcoma of the rib.
Shimoyama T, Suzuki R, Yoshiya K, Yamato Y, Koike T. Shimoyama T, et al. Jpn J Thorac Cardiovasc Surg. 2003 Apr;51(4):167-71. doi: 10.1007/s11748-003-0056-x. Jpn J Thorac Cardiovasc Surg. 2003. PMID: 12723590 Review.
A 73-year-old woman evidencing an abnormal shadow on chest X-ray film since 1993 was admitted after a tumor of the left 8th rib was diagnosed in 2001. Computed tomography showed a low-density mass with coarse calcification arising from the left 8th rib and pr …
A 73-year-old woman evidencing an abnormal shadow on chest X-ray film since 1993 was admitted after a tumor of the left 8th rib …
527 results