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Neurofibromatosis type 6(NF6)

MedGen UID:
447599
Concept ID:
CN035858
Disease or Syndrome
Synonyms: NF6
 

Recent clinical studies

Etiology

Nowak A, Dziedzic T, Czernicki T, Kunert P, Marchel A
Neurol Neurochir Pol 2016;50(1):31-5. Epub 2015 Nov 26 doi: 10.1016/j.pjnns.2015.11.004. [Epub ahead of print] PMID: 26851687
Batista PB, Bertollo EM, Costa Dde S, Eliam L, Cunha KS, Cunha-Melo JR, Darrigo Junior LG, Geller M, Gianordoli-Nascimento IF, Madeira LG, Mendes HM, Miranda DM, Mata-Machado NA, Morato EG, Pavarino ÉC, Pereira LB, Rezende NA, Rodrigues Lde O, Sette JB
Arq Neuropsiquiatr 2015 Jun;73(6):531-43. doi: 10.1590/0004-282X20150042. PMID: 26083891
Crucis A, Richer W, Brugières L, Bergeron C, Marie-Cardine A, Stephan JL, Girard P, Corradini N, Munzer M, Lacour B, Minard-Colin V, Sarnacki S, Ranchere-Vince D, Orbach D, Bourdeaut F
Pediatr Blood Cancer 2015 Oct;62(10):1733-8. Epub 2015 Apr 20 doi: 10.1002/pbc.25556. [Epub ahead of print] PMID: 25893277
Toelle SP, Poretti A, Weber P, Seute T, Bromberg JE, Scheer I, Boltshauser E
Cerebellum 2015 Dec;14(6):642-9. doi: 10.1007/s12311-015-0658-8. PMID: 25728839
Madubata CC, Olsen MA, Stwalley DL, Gutmann DH, Johnson KJ
Genet Med 2015 Jan;17(1):36-42. Epub 2014 Jun 5 doi: 10.1038/gim.2014.70. [Epub ahead of print] PMID: 24901347Free PMC Article

Diagnosis

Nowak A, Dziedzic T, Czernicki T, Kunert P, Marchel A
Neurol Neurochir Pol 2016;50(1):31-5. Epub 2015 Nov 26 doi: 10.1016/j.pjnns.2015.11.004. [Epub ahead of print] PMID: 26851687
Batista PB, Bertollo EM, Costa Dde S, Eliam L, Cunha KS, Cunha-Melo JR, Darrigo Junior LG, Geller M, Gianordoli-Nascimento IF, Madeira LG, Mendes HM, Miranda DM, Mata-Machado NA, Morato EG, Pavarino ÉC, Pereira LB, Rezende NA, Rodrigues Lde O, Sette JB
Arq Neuropsiquiatr 2015 Jun;73(6):531-43. doi: 10.1590/0004-282X20150042. PMID: 26083891
Crucis A, Richer W, Brugières L, Bergeron C, Marie-Cardine A, Stephan JL, Girard P, Corradini N, Munzer M, Lacour B, Minard-Colin V, Sarnacki S, Ranchere-Vince D, Orbach D, Bourdeaut F
Pediatr Blood Cancer 2015 Oct;62(10):1733-8. Epub 2015 Apr 20 doi: 10.1002/pbc.25556. [Epub ahead of print] PMID: 25893277
Mahboubi H, Maducdoc MM, Yau AY, Ziai K, Ghavami Y, Badran KW, Al-Thobaiti M, Brandon B, Djalilian HR
Otolaryngol Head Neck Surg 2015 Nov;153(5):822-31. Epub 2015 Mar 19 doi: 10.1177/0194599815573223. [Epub ahead of print] PMID: 25791708
Ekvall S, Sjörs K, Jonzon A, Vihinen M, Annerén G, Bondeson ML
Am J Med Genet A 2014 Mar;164A(3):579-87. Epub 2013 Dec 19 doi: 10.1002/ajmg.a.36313. [Epub ahead of print] PMID: 24357598

Therapy

Kocova M, Kochova E, Sukarova-Angelovska E
BMC Endocr Disord 2015 Dec 15;15:82. doi: 10.1186/s12902-015-0076-4. [Epub ahead of print] PMID: 26666878Free PMC Article
Hochart A, Gaillard V, Baroncini M, André N, Vannier JP, Vinchon M, Dubrulle F, Lejeune JP, Vincent C, Nève V, Sudour Bonnange H, Bonne NX, Leblond P
J Neurooncol 2015 Sep;124(2):229-36. Epub 2015 May 29 doi: 10.1007/s11060-015-1828-8. [Epub ahead of print] PMID: 26022982
Goutagny S, Raymond E, Esposito-Farese M, Trunet S, Mawrin C, Bernardeschi D, Larroque B, Sterkers O, Giovannini M, Kalamarides M
J Neurooncol 2015 Apr;122(2):313-20. Epub 2015 Jan 8 doi: 10.1007/s11060-014-1710-0. [Epub ahead of print] PMID: 25567352
Alanin MC, Klausen C, Caye-Thomasen P, Thomsen C, Fugleholm K, Poulsgaard L, Lassen U, Mau-Sorensen M, Hofland KF
Eur Arch Otorhinolaryngol 2015 Dec;272(12):3627-33. Epub 2014 Nov 25 doi: 10.1007/s00405-014-3398-3. [Epub ahead of print] PMID: 25421643
Widemann BC, Babovic-Vuksanovic D, Dombi E, Wolters PL, Goldman S, Martin S, Goodwin A, Goodspeed W, Kieran MW, Cohen B, Blaney SM, King A, Solomon J, Patronas N, Balis FM, Fox E, Steinberg SM, Packer RJ
Pediatr Blood Cancer 2014 Sep;61(9):1598-602. Epub 2014 Apr 22 doi: 10.1002/pbc.25041. [Epub ahead of print] PMID: 24753394

Prognosis

Nowak A, Dziedzic T, Czernicki T, Kunert P, Marchel A
Neurol Neurochir Pol 2016;50(1):31-5. Epub 2015 Nov 26 doi: 10.1016/j.pjnns.2015.11.004. [Epub ahead of print] PMID: 26851687
Batista PB, Bertollo EM, Costa Dde S, Eliam L, Cunha KS, Cunha-Melo JR, Darrigo Junior LG, Geller M, Gianordoli-Nascimento IF, Madeira LG, Mendes HM, Miranda DM, Mata-Machado NA, Morato EG, Pavarino ÉC, Pereira LB, Rezende NA, Rodrigues Lde O, Sette JB
Arq Neuropsiquiatr 2015 Jun;73(6):531-43. doi: 10.1590/0004-282X20150042. PMID: 26083891
Wolters PL, Burns KM, Martin S, Baldwin A, Dombi E, Toledo-Tamula MA, Dudley WN, Gillespie A, Widemann BC
Am J Med Genet A 2015 Sep;167A(9):2103-13. Epub 2015 May 14 doi: 10.1002/ajmg.a.37123. [Epub ahead of print] PMID: 25976979
Mahboubi H, Maducdoc MM, Yau AY, Ziai K, Ghavami Y, Badran KW, Al-Thobaiti M, Brandon B, Djalilian HR
Otolaryngol Head Neck Surg 2015 Nov;153(5):822-31. Epub 2015 Mar 19 doi: 10.1177/0194599815573223. [Epub ahead of print] PMID: 25791708
Toelle SP, Poretti A, Weber P, Seute T, Bromberg JE, Scheer I, Boltshauser E
Cerebellum 2015 Dec;14(6):642-9. doi: 10.1007/s12311-015-0658-8. PMID: 25728839

Clinical prediction guides

Nowak A, Dziedzic T, Czernicki T, Kunert P, Marchel A
Neurol Neurochir Pol 2016;50(1):31-5. Epub 2015 Nov 26 doi: 10.1016/j.pjnns.2015.11.004. [Epub ahead of print] PMID: 26851687
Batista PB, Bertollo EM, Costa Dde S, Eliam L, Cunha KS, Cunha-Melo JR, Darrigo Junior LG, Geller M, Gianordoli-Nascimento IF, Madeira LG, Mendes HM, Miranda DM, Mata-Machado NA, Morato EG, Pavarino ÉC, Pereira LB, Rezende NA, Rodrigues Lde O, Sette JB
Arq Neuropsiquiatr 2015 Jun;73(6):531-43. doi: 10.1590/0004-282X20150042. PMID: 26083891
Wolters PL, Burns KM, Martin S, Baldwin A, Dombi E, Toledo-Tamula MA, Dudley WN, Gillespie A, Widemann BC
Am J Med Genet A 2015 Sep;167A(9):2103-13. Epub 2015 May 14 doi: 10.1002/ajmg.a.37123. [Epub ahead of print] PMID: 25976979
Crucis A, Richer W, Brugières L, Bergeron C, Marie-Cardine A, Stephan JL, Girard P, Corradini N, Munzer M, Lacour B, Minard-Colin V, Sarnacki S, Ranchere-Vince D, Orbach D, Bourdeaut F
Pediatr Blood Cancer 2015 Oct;62(10):1733-8. Epub 2015 Apr 20 doi: 10.1002/pbc.25556. [Epub ahead of print] PMID: 25893277
Kontorinis G, Nichani J, Freeman SR, Rutherford SA, Mills S, King AT, Mawman D, Huson S, O'Driscoll M, Gareth Evans D, Lloyd SK
Eur Arch Otorhinolaryngol 2015 Nov;272(11):3143-50. Epub 2014 Oct 8 doi: 10.1007/s00405-014-3317-7. [Epub ahead of print] PMID: 25294053

Recent systematic reviews

Lafay-Cousin L, Lindzon G, Taylor MD, Hader W, Hawkins C, Nordal R, Laperriere N, Laughlin S, Bouffet E, Bartels U
J Neurosurg Pediatr 2016 Mar;17(3):298-302. Epub 2015 Nov 20 doi: 10.3171/2015.6.PEDS14709. [Epub ahead of print] PMID: 26588458
D'Arco F, D'Amico A, Caranci F, Di Paolo N, Melis D, Brunetti A
Radiol Med 2014 Jun;119(6):415-21. Epub 2013 Dec 3 doi: 10.1007/s11547-013-0358-8. [Epub ahead of print] PMID: 24297593
Koontz NA, Wiens AL, Agarwal A, Hingtgen CM, Emerson RE, Mosier KM
AJR Am J Roentgenol 2013 Jun;200(6):W646-53. doi: 10.2214/AJR.12.8577. PMID: 23701098
Plotkin SR, Merker VL, Halpin C, Jennings D, McKenna MJ, Harris GJ, Barker FG 2nd
Otol Neurotol 2012 Aug;33(6):1046-52. doi: 10.1097/MAO.0b013e31825e73f5. PMID: 22805104
Carlson ML, Breen JT, Driscoll CL, Link MJ, Neff BA, Gifford RH, Beatty CW
Otol Neurotol 2012 Jul;33(5):853-62. doi: 10.1097/MAO.0b013e318254fba5. PMID: 22664900

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