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Showing results for peter meckel
Search for Peter Meckl instead (1 results)
Genetic complexity in Joubert syndrome and related disorders.
Harris PC. Harris PC. Kidney Int. 2007 Dec;72(12):1421-3. doi: 10.1038/sj.ki.5002577. Kidney Int. 2007. PMID: 18046420 Free article. Review.
The recent identification of RPGRIP1L as a Joubert syndrome gene brings the total of known genes to five. Three of these are also associated with the lethal Meckel syndrome, and two with Senior-Loken syndrome; both of these disorders share Joubert syndrome phenotypes, illu …
The recent identification of RPGRIP1L as a Joubert syndrome gene brings the total of known genes to five. Three of these are also associated …
Simple diverticulectomy is adequate for management of bleeding Meckel diverticulum.
Glenn IC, El-Shafy IA, Bruns NE, Muenks EP, Duran YK, Hill JA, Peter SDS, Prince JM, Lipskar AM, Ponsky TA. Glenn IC, et al. Pediatr Surg Int. 2018 Apr;34(4):451-455. doi: 10.1007/s00383-018-4239-z. Epub 2018 Feb 19. Pediatr Surg Int. 2018. PMID: 29460177
PURPOSE: It is unclear whether simple diverticulectomy, rather than segmental bowel resection (SBR), is adequate treatment for gastrointestinal bleeding (GIB) secondary to Meckel diverticulum (MD). There is concern that ulcers in the adjacent bowel may continue to bleed if …
PURPOSE: It is unclear whether simple diverticulectomy, rather than segmental bowel resection (SBR), is adequate treatment for gastrointesti …
Molecular states during acute COVID-19 reveal distinct etiologies of long-term sequelae.
Thompson RC, Simons NW, Wilkins L, Cheng E, Del Valle DM, Hoffman GE, Cervia C, Fennessy B, Mouskas K, Francoeur NJ, Johnson JS, Lepow L, Le Berichel J, Chang C, Beckmann AG, Wang YC, Nie K, Zaki N, Tuballes K, Barcessat V, Cedillo MA, Yuan D, Huckins L, Roussos P, Marron TU; Mount Sinai COVID-19 Biobank Team; Glicksberg BS, Nadkarni G, Heath JR, Gonzalez-Kozlova E, Boyman O, Kim-Schulze S, Sebra R, Merad M, Gnjatic S, Schadt EE, Charney AW, Beckmann ND. Thompson RC, et al. Nat Med. 2023 Jan;29(1):236-246. doi: 10.1038/s41591-022-02107-4. Epub 2022 Dec 8. Nat Med. 2023. PMID: 36482101 Free PMC article.
Frederik Ruysch (1638-1731): Historical perspective and contemporary analysis of his teratological legacy.
Boer L, Radziun AB, Oostra RJ. Boer L, et al. Am J Med Genet A. 2017 Jan;173(1):16-41. doi: 10.1002/ajmg.a.37663. Epub 2016 Apr 29. Am J Med Genet A. 2017. PMID: 27126916 Free PMC article. Review.
The Peter the Great Museum of Anthropology and Ethnography (Kunstkamera) in Saint Petersburg is the oldest museum in Russia. ...This unique collection was bought and shipped in 1717 by Czar Peter the Great, and presently still comprises more than 900 specimens, a mo …
The Peter the Great Museum of Anthropology and Ethnography (Kunstkamera) in Saint Petersburg is the oldest museum in Russia. ...This …
2008 Homer W. Smith Award: insights into the pathogenesis of polycystic kidney disease from gene discovery.
Harris PC. Harris PC. J Am Soc Nephrol. 2009 Jun;20(6):1188-98. doi: 10.1681/ASN.2009010014. Epub 2009 May 7. J Am Soc Nephrol. 2009. PMID: 19423684 Review.
Three forms of PKD are described here: The common, late onset, autosomal dominant PKD (ADPKD); the mainly infantile, autosomal recessive PKD (ARPKD); and the lethal, syndromic, Meckel syndrome that also includes central nervous system and digital defects. ...
Three forms of PKD are described here: The common, late onset, autosomal dominant PKD (ADPKD); the mainly infantile, autosomal recessive PKD …
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Auge J, Brahimi N, Etchevers H, Detrait E, Esculpavit C, Audollent S, Goudefroye G, Gonzales M, Tantau J, Loget P, Joubert M, Gaillard D, Jeanne-Pasquier C, Delezoide AL, Peter MO, Plessis G, Simon-Bouy B, Dollfus H, Le Merrer M, Munnich A, Encha-Razavi F, Vekemans M, Attié-Bitach T. Karmous-Benailly H, et al. Am J Hum Genet. 2005 Mar;76(3):493-504. doi: 10.1086/428679. Epub 2005 Jan 21. Am J Hum Genet. 2005. PMID: 15666242 Free PMC article.
These fetuses were mostly diagnosed as having Meckel or "Meckel-like" syndrome. In six cases, we identified a recessive mutation in a BBS gene (three in BBS2, two in BBS4, and one in BBS6). ...These results suggest that the antenatal presentation of BBS may mimic …
These fetuses were mostly diagnosed as having Meckel or "Meckel-like" syndrome. In six cases, we identified a recessive mutati …
Acute ulcerative colitis in a Meckel's diverticulum.
Cunnick GH, Richardson NG, Ratcliffe N, Donaldson DR. Cunnick GH, et al. Int J Clin Pract. 2004 Apr;58(4):422-3. doi: 10.1111/j.1368-5031.2004.00131.x. Int J Clin Pract. 2004. PMID: 15161132
This report describes the case of a patient with acute ulcerative colitis who underwent an emergency colectomy and removal of an incidental Meckel's diverticulum which appeared inflamed. Histology showed acute inflammation of colonic epithelium within the Meckel …
This report describes the case of a patient with acute ulcerative colitis who underwent an emergency colectomy and removal of an incidental …
Meckel's diverticulum and intestinal obstruction--report of a fatal case.
Vork JC, Kristensen IB. Vork JC, et al. Forensic Sci Int. 2003 Dec 17;138(1-3):114-5. doi: 10.1016/j.forsciint.2003.08.013. Forensic Sci Int. 2003. PMID: 14642728
Meckel's diverticulum is an uncommon cause of intestinal obstruction in adult life. ...Autopsy revealed a Meckel's diverticulum with a mesodiverticular band and intestinal obstruction. ...
Meckel's diverticulum is an uncommon cause of intestinal obstruction in adult life. ...Autopsy revealed a Meckel's …
Obscure gastrointestinal bleeding and Turner syndrome.
Bang JY, Peter S. Bang JY, et al. Dig Endosc. 2013 Jul;25(4):462-4. doi: 10.1111/j.1443-1661.2012.01373.x. Epub 2012 Sep 19. Dig Endosc. 2013. PMID: 23368930
Our second patient had a history of unexplained recurrent melena and iron deficiency anemia, with previously normal esophagogastroduodenoscopies, colonoscopies and a Meckel's diverticulum scan. Both patients were subsequently diagnosed with gastrointestinal vascular …
Our second patient had a history of unexplained recurrent melena and iron deficiency anemia, with previously normal esophagogastroduodenosco …
23 results