..: Nörofibromatozis :..

Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL. Neurofibromatosis type 1 revisited. Pediatrics. 2009 Jan;123(1):124-133

Yohay K. Neurofibromatosis type 1 and associated malignancies. Curr Neurol Neurosci Rep. 2009 May;9(3):247-253.

Albers AC, Gutmann DH. Gliomas in patients with neurofibromatosis type 1. Expert Rev Neurother. 2009 Apr;9(4):535-9.

Parsons CM, Canter RJ, Khatri VP. Surgical management of neurofibromatosis. Surg Oncol Clin N Am. 2009 Jan;18(1):175-196

Asthagiri AR, Parry DM, Butman JA, Kim HJ, Tsilou ET, Zhuang Z, Lonser RR. Neurofibromatosis type 2. Lancet. 2009 Jun 6;373(9679):1974-1986.

Koller S, Horn M, Weger W, Massone C, Smolle J, Gerger A. Confocal laser scanning microscopy-guided surgery for neurofibroma. Clin Exp Dermatol. 2009 Jun 22. PMID: 19548937

Boyd KP, Korf BR, Theos A. Neurofibromatosis type 1. J Am Acad Dermatol. 2009 Jul;61(1):1-14.

Hottinger AF, Khakoo Y.Neuro-oncology of Neurofibromatosis Type 1. Curr Treat Options Neurol. 2009 Jul;11(4):306-314.

Widemann BC. Current status of sporadic and neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors. Curr Oncol Rep. 2009 Jul;11(4):322-328.

Abbarah T, Abbarah MA. Neurofibromatosis type 1 causing conductive hearing loss. Ear Nose Throat J. 2009 May;88(5):912.

Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L, Davies S, Haan E, Kerr B, Huson SM, Upadhyaya M. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. J Med Genet. 2009 Jul;46(7):431-437.

Chiu CS, Wang JD, Yen CY, Chen YJ, Shen JL. Pseudoatrophic macules associated with neurofibromatosis-1. Pediatr Dermatol. 2009 Mar-Apr;26(2):231-2.

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. Sabbagh A, Pasmant E, Laurendeau I, Parfait B, Barbarot S, Guillot B, Combemale P, Ferkal S, Vidaud M, Aubourg P, Vidaud D, Wolkenstein P; and the members of the NF France Network. Hum Mol Genet. 2009 May 5.

Brems H, Beert E, de Ravel T, Legius E. Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol. 2009 May;10(5):508-15. Review.

Gerber PA, Antal AS, Neumann NJ, Homey B, Matuschek C, Peiper M, Budach W, Bölke E. Neurofibromatosis. Eur J Med Res. 2009 Mar 17;14(3):102-5. Review.

Pasmant E, Sabbagh A, Hanna N, Masliah-Planchon J, Jolly E, Goussard P, Ballerini P, Cartault F, Barbarot S, Landman-Parker J, Soufir N, Parfait B, Vidaud M, Wolkenstein P, Vidaud D, France RN. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. J Med Genet. 2009 Jul;46(7):425-30. Epub 2009 Apr 14.

Yohay K. Neurofibromatosis type 1 and associated malignancies. Curr Neurol Neurosci Rep. 2009 May;9(3):247-53. Review.

Hans VH, Surov A, Kornhuber M, Behrmann C. Schwannomatosis. Neurology. 2009 Mar 31;72(13):1188

Pros E, Fernández-Rodríguez J, Canet B, Benito L, Sánchez A, Benavides A, Ramos FJ, López-Ariztegui MA, Capellá G, Blanco I, Serra E, Lázaro C. Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations. Hum Mutat. 2009 Mar; 30(3) :454 -462.

Rowbotham I, Pit-ten Cate IM, Sonuga-Barke EJ, Huijbregts SC. Cognitive control in adolescents with neurofibromatosis type 1. Neuropsychology. 2009 Jan;23(1):50-60.

Huson S. Neurofibromatosis: emerging phenotypes, mechanisms and management. Clin Med. 2008 Dec;8(6):611-7.

Jansen JF. Statin therapy and cognitive deficits associated with neurofibromatosis type 1. JAMA. 2008 Nov 26;300(20):2369

Krab LC, Aarsen FK, de Goede-Bolder A, Catsman-Berrevoets CE, Arts WF, Moll HA, Elgersma Y. Impact of neurofibromatosis type 1 on school performance. J Child Neurol. 2008 Sep;23(9):1002-10.

Korf BR. Statins, bone, and neurofibromatosis type 1. BMC Med. 2008 Jul 31;6:22.

Krab LC, de Goede-Bolder A, Aarsen FK, Pluijm SM, Bouman MJ, van der Geest JN, Lequin M, Catsman CE, Arts WF, Kushner SA, Silva AJ, de Zeeuw CI, Moll HA, Elgersma Y. Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomized controlled trial. JAMA. 2008 Jul 16;300(3):287-94.

Terzi YK, Oguzkan S, Anlar B, Aysun S, Ayter S. Neurofibromatosis: novel and recurrent mutations in Turkish patients. Pediatr Neurol. 2007 Dec;37(6):421-425.

Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, Kato R, Somers R, Messiaen L, De Schepper S, Fryns JP, Cools J, Marynen P, Thomas G, Yoshimura A, Legius E. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet. 2007 Sep;39(9): 1120- 1126

Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet. 2007 Jan;80(1): 140- 151

Oguzkan S, Terzi YK, Cinbis M, Anlar B, Aysun S, Ayter S. Molecular genetic analyses in neurofibromatosis type 1 patients with tumors. Cancer Genet Cytogenet. 2006 Mar;165(2):167-171.

Oguzkan S, Terzi YK, Güler E, Derbent M, Agras PI, Saatci U, Ayter S. Two neurofibromatosis type 1 cases associated with rhabdomyosarcoma of bladder, one with a large deletion in the NF1 gene. Cancer Genet Cytogenet. 2006 Jan 15;164(2):159- 163.

Oguzkan S, Cinbis M, Ayter S, Anlar B, Aysun S. Familial segmental neurofibromatosis. J Child Neurol. 2004 May;19(5):392-4.

Ars E, Kruyer H, Morell M, Pros E, Serra E, Ravella A, Estivill X, Lázaro C. Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. J Med Genet. 2003 Jun;40(6):e82.

Oğuzkan S, Cinbiş M, Ayter S, Anlar B, Aysun S. Molecular analysis of neurofibromatosis type 1 in Turkish families using polymorphic markers. Turk J Pediatr. 2003 Jul-Sep;45(3):192-197.

Agras PI, Baskin E, Sakallioglu AE, Arda IS, Ayter S, Oguzkan S, Derbent M, Alehan F, Hicsonmez A, Saatci U. Neurofibromatosis--Noonan's syndrome with associated rhabdomyosarcoma of the urinary bladder in an infant: case report. J Child Neurol. 2003 Jan;18(1):68-72.

Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat. 2000;15(6):541-555.

Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, Kücükceylan N, Abdel-Nour M, Gewies A, Peters H, Kaufmann D, Buske A, Tinschert S, Nürnberg P. Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. Am J Hum Genet. 2000 Mar;66(3):790-818.

Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol 1988 May; 45(5): 575-578.






	Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL. Neurofibromatosis type 1 revisited. Pediatrics. 2009 Jan;123(1):124-133 Yohay K. Neurofibromatosis type 1 and associated malignancies. Curr Neurol Neurosci Rep. 2009 May;9(3):247-253. Albers AC, Gutmann DH. Gliomas in patients with neurofibromatosis type 1. Expert Rev Neurother. 2009 Apr;9(4):535-9. Parsons CM, Canter RJ, Khatri VP. Surgical management of neurofibromatosis. Surg Oncol Clin N Am. 2009 Jan;18(1):175-196 Asthagiri AR, Parry DM, Butman JA, Kim HJ, Tsilou ET, Zhuang Z, Lonser RR. Neurofibromatosis type 2. Lancet. 2009 Jun 6;373(9679):1974-1986. Koller S, Horn M, Weger W, Massone C, Smolle J, Gerger A. Confocal laser scanning microscopy-guided surgery for neurofibroma. Clin Exp Dermatol. 2009 Jun 22. PMID: 19548937 Boyd KP, Korf BR, Theos A. Neurofibromatosis type 1. J Am Acad Dermatol. 2009 Jul;61(1):1-14. Hottinger AF, Khakoo Y.Neuro-oncology of Neurofibromatosis Type 1. Curr Treat Options Neurol. 2009 Jul;11(4):306-314. Widemann BC. Current status of sporadic and neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors. Curr Oncol Rep. 2009 Jul;11(4):322-328. Abbarah T, Abbarah MA. Neurofibromatosis type 1 causing conductive hearing loss. Ear Nose Throat J. 2009 May;88(5):912. Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L, Davies S, Haan E, Kerr B, Huson SM, Upadhyaya M. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. J Med Genet. 2009 Jul;46(7):431-437. Chiu CS, Wang JD, Yen CY, Chen YJ, Shen JL. Pseudoatrophic macules associated with neurofibromatosis-1. Pediatr Dermatol. 2009 Mar-Apr;26(2):231-2. Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. Sabbagh A, Pasmant E, Laurendeau I, Parfait B, Barbarot S, Guillot B, Combemale P, Ferkal S, Vidaud M, Aubourg P, Vidaud D, Wolkenstein P; and the members of the NF France Network. Hum Mol Genet. 2009 May 5. Brems H, Beert E, de Ravel T, Legius E. Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol. 2009 May;10(5):508-15. Review. Gerber PA, Antal AS, Neumann NJ, Homey B, Matuschek C, Peiper M, Budach W, Bölke E. Neurofibromatosis. Eur J Med Res. 2009 Mar 17;14(3):102-5. Review. Pasmant E, Sabbagh A, Hanna N, Masliah-Planchon J, Jolly E, Goussard P, Ballerini P, Cartault F, Barbarot S, Landman-Parker J, Soufir N, Parfait B, Vidaud M, Wolkenstein P, Vidaud D, France RN. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. J Med Genet. 2009 Jul;46(7):425-30. Epub 2009 Apr 14. Yohay K. Neurofibromatosis type 1 and associated malignancies. Curr Neurol Neurosci Rep. 2009 May;9(3):247-53. Review. Hans VH, Surov A, Kornhuber M, Behrmann C. Schwannomatosis. Neurology. 2009 Mar 31;72(13):1188 Pros E, Fernández-Rodríguez J, Canet B, Benito L, Sánchez A, Benavides A, Ramos FJ, López-Ariztegui MA, Capellá G, Blanco I, Serra E, Lázaro C. Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations. Hum Mutat. 2009 Mar; 30(3) :454 -462. Rowbotham I, Pit-ten Cate IM, Sonuga-Barke EJ, Huijbregts SC. Cognitive control in adolescents with neurofibromatosis type 1. Neuropsychology. 2009 Jan;23(1):50-60. Huson S. Neurofibromatosis: emerging phenotypes, mechanisms and management. Clin Med. 2008 Dec;8(6):611-7. Jansen JF. Statin therapy and cognitive deficits associated with neurofibromatosis type 1. JAMA. 2008 Nov 26;300(20):2369 Krab LC, Aarsen FK, de Goede-Bolder A, Catsman-Berrevoets CE, Arts WF, Moll HA, Elgersma Y. Impact of neurofibromatosis type 1 on school performance. J Child Neurol. 2008 Sep;23(9):1002-10. Korf BR. Statins, bone, and neurofibromatosis type 1. BMC Med. 2008 Jul 31;6:22. Krab LC, de Goede-Bolder A, Aarsen FK, Pluijm SM, Bouman MJ, van der Geest JN, Lequin M, Catsman CE, Arts WF, Kushner SA, Silva AJ, de Zeeuw CI, Moll HA, Elgersma Y. Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomized controlled trial. JAMA. 2008 Jul 16;300(3):287-94. Terzi YK, Oguzkan S, Anlar B, Aysun S, Ayter S. Neurofibromatosis: novel and recurrent mutations in Turkish patients. Pediatr Neurol. 2007 Dec;37(6):421-425. Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, Kato R, Somers R, Messiaen L, De Schepper S, Fryns JP, Cools J, Marynen P, Thomas G, Yoshimura A, Legius E. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet. 2007 Sep;39(9): 1120- 1126 Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet. 2007 Jan;80(1): 140- 151 Oguzkan S, Terzi YK, Cinbis M, Anlar B, Aysun S, Ayter S. Molecular genetic analyses in neurofibromatosis type 1 patients with tumors. Cancer Genet Cytogenet. 2006 Mar;165(2):167-171. Oguzkan S, Terzi YK, Güler E, Derbent M, Agras PI, Saatci U, Ayter S. Two neurofibromatosis type 1 cases associated with rhabdomyosarcoma of bladder, one with a large deletion in the NF1 gene. Cancer Genet Cytogenet. 2006 Jan 15;164(2):159- 163. Oguzkan S, Cinbis M, Ayter S, Anlar B, Aysun S. Familial segmental neurofibromatosis. J Child Neurol. 2004 May;19(5):392-4. Ars E, Kruyer H, Morell M, Pros E, Serra E, Ravella A, Estivill X, Lázaro C. Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. J Med Genet. 2003 Jun;40(6):e82. Oğuzkan S, Cinbiş M, Ayter S, Anlar B, Aysun S. Molecular analysis of neurofibromatosis type 1 in Turkish families using polymorphic markers. Turk J Pediatr. 2003 Jul-Sep;45(3):192-197. Agras PI, Baskin E, Sakallioglu AE, Arda IS, Ayter S, Oguzkan S, Derbent M, Alehan F, Hicsonmez A, Saatci U. Neurofibromatosis--Noonan's syndrome with associated rhabdomyosarcoma of the urinary bladder in an infant: case report. J Child Neurol. 2003 Jan;18(1):68-72. Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat. 2000;15(6):541-555. Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, Kücükceylan N, Abdel-Nour M, Gewies A, Peters H, Kaufmann D, Buske A, Tinschert S, Nürnberg P. Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. Am J Hum Genet. 2000 Mar;66(3):790-818. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol 1988 May; 45(5): 575-578.
Bu site H.Ü. Web Tasarım Birimi tarafından hazırlanmıştır.