References analysis of the Wikipedia article "Johanson-Blizzard-Syndrom" in the German version

IABotmemento.invalid

Alkhouri N, Kaplan B, Kay M, Shealy A, Crowe C, Bauhuber S, Zenker M: Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing. In: World journal of gastroenterology : WJG. 14. Jahrgang, Nr. 44, November 2008, S. 6863–6866, doi:10.3748/wjg.14.6863, PMID 19058315 (wjgnet.com (Memento des Originals vom 18. Februar 2012 im Internet Archive) [FREE FULL TEXT]). Info: Der Archivlink wurde automatisch eingesetzt und noch nicht geprüft. Bitte prüfe Original- und Archivlink gemäß Anleitung und entferne dann diesen Hinweis.

doi.org

Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hülskamp G, Guzman C, Rehder H, Beemer FA, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslender R, Gil-Da-Silva-Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Ekici AB, Winterpacht A, Kwon YT, Varshavsky A, Reis A: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). In: Nature Genetics. 37. Jahrgang, Nr. 12, Dezember 2005, S. 1345–1350, doi:10.1038/ng1681, PMID 16311597.

Ciechanover A, Iwai K: The ubiquitin system: from basic mechanisms to the patient bed. In: IUBMB Life. 56. Jahrgang, Nr. 4, April 2004, S. 193–201, doi:10.1080/1521654042000223616, PMID 15230346.

Zenker M, Mayerle J, Reis A, Lerch MM: Genetic basis and pancreatic biology of Johanson-Blizzard syndrome. In: Endocrinology and metabolism clinics of North America. 35. Jahrgang, Nr. 2, Juni 2006, S. 243–253, vii-viii, doi:10.1016/j.ecl.2006.02.013, PMID 16632090.

Al-Dosari MS, Al-Muhsen S, Al-Jazaeri A, Mayerle J, Zenker M, Alkuraya FS: Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement. In: Am. J. Med. Genet. A. 146A. Jahrgang, Nr. 14, Juli 2008, S. 1875–9, doi:10.1002/ajmg.a.32401, PMID 18553553.

Elting M, Kariminejad A, de Sonnaville ML, et al.: Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy. In: Am. J. Med. Genet. A. 146A. Jahrgang, Nr. 23, Dezember 2008, S. 3058–61, doi:10.1002/ajmg.a.32566, PMID 19006206.

Rosanowski F, Hoppe U, Hies T, Eysholdt U: Johanson-Blizzard syndrome. A complex dysplasia syndrome with aplasia of the nasal alae and inner ear deafness. In: HNO. 46. Jahrgang, Nr. 10, Oktober 1998, S. 876–878, doi:10.1007/s001060050328, PMID 9846268.

Daentl DL, Frías JL, Gilbert EF, Opitz JM: The Johanson-Blizzard syndrome: case report and autopsy findings. In: American journal of medical genetics. 3. Jahrgang, Nr. 2, 1979, S. 129–135, doi:10.1002/ajmg.1320030203, PMID 474625.

Jones NL, Hofley PM, Durie PR: Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: a disorder of acinar development. In: The Journal of Pediatrics. 125. Jahrgang, Nr. 3, September 1994, S. 406–408, doi:10.1016/S0022-3476(05)83286-X, PMID 8071749.

Gould NS, Paton JB, Bennett AR: Johanson-Blizzard syndrome: clinical and pathological findings in 2 sibs. In: American journal of medical genetics. 33. Jahrgang, Nr. 2, Juni 1989, S. 194–199, doi:10.1002/ajmg.1320330212, PMID 2669481.

Kulkarni ML, Shetty SK, Kallambella KS, Kulkarni PM: Johanson--blizzard syndrome. In: Indian journal of pediatrics. 71. Jahrgang, Nr. 12, Dezember 2004, S. 1127–1129, doi:10.1007/BF02829829, PMID 15630323.

Hoffman WH, Lee JR, Kovacs K, Chen H, Yaghmai F: Johanson-Blizzard syndrome: autopsy findings with special emphasis on hypopituitarism and review of the literature. In: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 10. Jahrgang, Nr. 1, Januar 2007, S. 55–60, doi:10.2350/06-05-0085.1, PMID 17378628.

Moeschler JB, Polak MJ, Jenkins JJ, Amato RS: The Johanson-Blizzard syndrome: a second report of full autopsy findings. In: Am. J. Med. Genet. 26. Jahrgang, Nr. 1, Januar 1987, S. 133–8, doi:10.1002/ajmg.1320260120, PMID 3812553.

Kobayashi S, Ohmori K, Sekiguchi J: Johanson-Blizzard syndrome facial anomaly and its correction using a microsurgical bone graft and tripartite osteotomy. In: J Craniofac Surg. 6. Jahrgang, Nr. 5, September 1995, S. 382–385, doi:10.1097/00001665-199509000-00011, PMID 9020718.

P. L. Townes: Trypsinogen Deficiency Disease. In: The Journal of pediatrics. Band 66, Februar 1965, S. 275–285, doi:10.1016/s0022-3476(65)80184-6, PMID 14258916.

M. D. Morris, D. A. Fisher: Trypsinogen deficiency disease. In: American journal of diseases of children. Band 114, Nummer 2, August 1967, S. 203–208, doi:10.1001/archpedi.1967.02090230133019, PMID 5006445.

R. Gershoni-Baruch, A. Lerner, J. Braun, Y. Katzir, T. C. Iancu, A. Benderly: Johanson-Blizzard syndrome: clinical spectrum and further delineation of the syndrome. In: American journal of medical genetics. Band 35, Nummer 4, April 1990, S. 546–551, doi:10.1002/ajmg.1320350421, PMID 2185632 (Review).

nih.gov

ncbi.nlm.nih.gov

Johanson A, Blizzard R: A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption. In: J. Pediatr. 79. Jahrgang, Nr. 6, Dezember 1971, S. 982–7, PMID 5171616 (jpeds.com).

Wang J, Maldonado MA: The ubiquitin-proteasome system and its role in inflammatory and autoimmune diseases. In: Cell. Mol. Immunol. 3. Jahrgang, Nr. 4, August 2006, S. 255–61, PMID 16978533.

Ciechanover A: The ubiquitin-mediated proteolytic pathway: mechanisms of action and cellular physiology. In: Biological Chemistry Hoppe-Seyler. 375. Jahrgang, Nr. 9, September 1994, S. 565–81, PMID 7840898.

Ciechanover A, Iwai K: The ubiquitin system: from basic mechanisms to the patient bed. In: IUBMB Life. 56. Jahrgang, Nr. 4, April 2004, S. 193–201, doi:10.1080/1521654042000223616, PMID 15230346.

Sandhu BK, Brueton MJ: Concurrent pancreatic and growth hormone insufficiency in Johanson-Blizzard syndrome. In: J Pediatr Gastroenterol Nutr. 9. Jahrgang, Nr. 4, November 1989, S. 535–8, PMID 2621533.

Steinbach WJ, Hintz RL: Diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome. In: Journal of pediatric endocrinology & metabolism : JPEM. 13. Jahrgang, Nr. 9, November 2000, ISSN 0334-018X, S. 1633–1636, PMID 11154160.

Takahashi T, Fujishima M, Tsuchida S, Enoki M, Takada G: Johanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia. In: Journal of pediatric endocrinology & metabolism : JPEM. 17. Jahrgang, Nr. 8, August 2004, ISSN 0334-018X, S. 1141–1144, PMID 15379429.

Nagashima K, Yagi H, Kuroume T: A case of Johanson-Blizzard syndrome complicated by diabetes mellitus. In: Clinical genetics. 43. Jahrgang, Nr. 2, Februar 1993, ISSN 0009-9163, S. 98–100, PMID 8448911.

Fichter CR, Johnson GA, Braddock SR, Tobias JD: Perioperative care of the child with the Johanson-Blizzard syndrome. In: Paediatr Anaesth. 13. Jahrgang, Nr. 1, Januar 2003, S. 72–5, PMID 12535044.

Braun J, Lerner A, Gershoni-Baruch R: The temporal bone in the Johanson-Blizzard syndrome. A CT study. In: Pediatr Radiol. 21. Jahrgang, Nr. 8, 1991, S. 580–3, PMID 1815181.

Bamiou DE, Phelps P, Sirimanna T: Temporal bone computed tomography findings in bilateral sensorineural hearing loss. In: Arch. Dis. Child. 82. Jahrgang, Nr. 3, März 2000, S. 257–60, PMID 10685935, PMC 1718255 (freier Volltext).

Mardin MK, Ghandour M, Sakati NA, Nyhan WL: Johanson-Blizzard syndrome in a large inbred kindred with three involved members. In: Clin Genet. 14. Jahrgang, Nr. 5, November 1978, S. 247–250, PMID 709902.

Motohashi N, Pruzansky S, Day D: Roentgencephalometric analysis of craniofacial growth in the Johanson-Blizzard syndrome. In: J Craniofac Genet Dev Biol. 1. Jahrgang, Nr. 1, 1981, S. 57–72, PMID 7341643.

Dumić M, Ille J, Bobonj G, Kordić R, Batinica S: [The Johanson-Blizzard syndrome]. In: Lijec Vjesn. 120. Jahrgang, Nr. 5, Mai 1998, S. 114–6, PMID 9748788 (kroatisch).

Vieira MW, Lopes VL, Teruya H, Guimarães-Lamonato L, Oliveira LC, Costa CD. Johanson-Blizzard syndrome: the importance of differential diagnostic in pediatrics. In: J Pediatr (Rio J). 2002 Sep-Oct;78(5):433-6. PMID 14647752

Hurst JA, Baraitser M. Johanson-Blizzard syndrome. in: J Med Genet. 1989 Jan;26(1):45-8. PMID 2645405

Prater JF, D'Addio K: Johanson-Blizzard syndrome--a case study, behavioral manifestations, and successful treatment strategies. In: Biol. Psychiatry. 51. Jahrgang, Nr. 6, März 2002, S. 515–7, PMID 11922888.

P. L. Townes: Trypsinogen Deficiency Disease. In: The Journal of pediatrics. Band 66, Februar 1965, S. 275–285, doi:10.1016/s0022-3476(65)80184-6, PMID 14258916.

redirecter.toolforge.org

web.archive.org

wjgnet.com

zdb-katalog.de

Johanson-Blizzard-Syndrom (German Wikipedia)