..: Nörofibromatozis :..

• Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol 1988 May; 45(5): 575-8.
• Allanson JE, Upadhyaya M, Watson GH, et al. Watson syndrome: is it a subtype of type 1 neurofibromatosis? J Med Genet 1991 Nov; 28(11): 752-6.
• Barker D, Wright E, Nguyen K, et al. Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 1987 May 29; 236(4805): 1100-2.
• Cawthon RM, Weiss R, Xu GF, et al. A major segment of the neurofibromatosis gene: cDNA sequence, genomic structure and point mutations. Cell 1990 Jul 13; 62(1): 193-201. Published erratum appears in Cell 1990 Aug;62(3): following 608.
• DeClue JE, Cohen BD, Lowry DR. Identification and characterization of the neurofibromatosis type 1 protein product. Proc Nat Acad Sci USA 1991 Nov 15; 88(22): 9914-8.
• DiPaolo DP, Zimmerman RA, Rorke LB, et al. Neurofibromatosis type 1: pathologic substraate of high-signal-intensity foci in the brain. Radiology 1995; 195: 721-24.
• Easton DF, Ponder MA, Huson SM, Ponder BA. An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. Am J Hum Genet 1993 Aug 53(2): 305-13.
• Gutmann DH, Collins FS. The neurofibromatosis type 1 gene and its protein product, neurofibromin. Neuron 1993 Mar; 10(3): 335-43.
• Gutmann DH, Collins FS. Neurofibromatosis type 1. Beyond positional cloning. Arch Neurol 1993 Nov; 50(11): 1185-93.
• Hofman KJ, Harris EL, Bryan NB, Denckla MS. Neurofibromatosis type 1: the cognitive phenotype. J Pediatr 1994; 124: S1-8.
• Kayes LM, Burke W, Riccardi VM, et al. Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. Am J Hum Genet 1994 Mar; 54(3): 424-6.
• Legius E, Marchuk DA, Collins FS, Glover TW. Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumor suppressor gene hypothesis. Nat Genet 1993 Feb; 3(2): 122-6.
• Legius E, Descheemaeker MJ, Spaepen A, et al. Neurofibromatosis type 1 in childhood: a study of the neuropsychological profile in 45 children. Genetic Counseling 1994; 5: 51-60.
• Riccardi VM. Neurofibromatosis: phenotype, natural history, and pathogenesis. 2nd ed. Baltimore: Johns Hopkins University Press, 1992.
• Riccardi VM. Genotype, malleotype, phenotype, and randomness: lessons from neurofibromatosis-1 (NF-1). Am J Hum Genet 1993 Aug; 53(2): 301-4.
• Rubenstein AE, Korf BR. Neurofibromatosis: a handbook for patients, families, and health-care professionals. New York: Thieme Medical Publishers, 1990.
• Seizinger BR. NF1: A prevalent cause of tumorigenesis in human cancers? Nat Genet 1993 Feb; 3(2): 97-9.
• Solot CB, Zackai EH, Obringer AC, et al. Communication disorders in children with neurofibromatosis type I. Chapter 6 in Rubenstein AE, Korf BR. Neurofibromatosis: a handbook for patients, families, and health-care professionals. New York: Thieme Medical Publishers, 1990, pp. 59-70.
• Stumpf DA, Alksne JF, Annegers JF, et al. Neurofibromatosis Conference Statement. National Institutes of Health Consensus Development Conference. Arch Neurol 1988; 45: 575-78.
• Truhan AP, Filipek PA. Magnetic resonance imaging: its role in the neuroradiologic evaluation of neurofibromatosis, tuberous sclerosis, and Sturge-Weber syndrome. Arch Dermatol 1993 Feb; 129(2): 219-26.
• Viskochil D, White R, Cawthon R. The neurofibromatosis type 1 gene. Annu Rev Neurosci 1993; 16: 183-205.
• Wallace MR, Marchuk DA, Anderson LB, et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three neurofibromatosis 1 patients. Science 1990 Jul 13; 249(4965): 181-6. Published erratum appears in Science 1990 Dec 21; 250(4988): 1749.






	• Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol 1988 May; 45(5): 575-8. • Allanson JE, Upadhyaya M, Watson GH, et al. Watson syndrome: is it a subtype of type 1 neurofibromatosis? J Med Genet 1991 Nov; 28(11): 752-6. • Barker D, Wright E, Nguyen K, et al. Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 1987 May 29; 236(4805): 1100-2. • Cawthon RM, Weiss R, Xu GF, et al. A major segment of the neurofibromatosis gene: cDNA sequence, genomic structure and point mutations. Cell 1990 Jul 13; 62(1): 193-201. Published erratum appears in Cell 1990 Aug;62(3): following 608. • DeClue JE, Cohen BD, Lowry DR. Identification and characterization of the neurofibromatosis type 1 protein product. Proc Nat Acad Sci USA 1991 Nov 15; 88(22): 9914-8. • DiPaolo DP, Zimmerman RA, Rorke LB, et al. Neurofibromatosis type 1: pathologic substraate of high-signal-intensity foci in the brain. Radiology 1995; 195: 721-24. • Easton DF, Ponder MA, Huson SM, Ponder BA. An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. Am J Hum Genet 1993 Aug 53(2): 305-13. • Gutmann DH, Collins FS. The neurofibromatosis type 1 gene and its protein product, neurofibromin. Neuron 1993 Mar; 10(3): 335-43. • Gutmann DH, Collins FS. Neurofibromatosis type 1. Beyond positional cloning. Arch Neurol 1993 Nov; 50(11): 1185-93. • Hofman KJ, Harris EL, Bryan NB, Denckla MS. Neurofibromatosis type 1: the cognitive phenotype. J Pediatr 1994; 124: S1-8. • Kayes LM, Burke W, Riccardi VM, et al. Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. Am J Hum Genet 1994 Mar; 54(3): 424-6. • Legius E, Marchuk DA, Collins FS, Glover TW. Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumor suppressor gene hypothesis. Nat Genet 1993 Feb; 3(2): 122-6. • Legius E, Descheemaeker MJ, Spaepen A, et al. Neurofibromatosis type 1 in childhood: a study of the neuropsychological profile in 45 children. Genetic Counseling 1994; 5: 51-60. • Riccardi VM. Neurofibromatosis: phenotype, natural history, and pathogenesis. 2nd ed. Baltimore: Johns Hopkins University Press, 1992. • Riccardi VM. Genotype, malleotype, phenotype, and randomness: lessons from neurofibromatosis-1 (NF-1). Am J Hum Genet 1993 Aug; 53(2): 301-4. • Rubenstein AE, Korf BR. Neurofibromatosis: a handbook for patients, families, and health-care professionals. New York: Thieme Medical Publishers, 1990. • Seizinger BR. NF1: A prevalent cause of tumorigenesis in human cancers? Nat Genet 1993 Feb; 3(2): 97-9. • Solot CB, Zackai EH, Obringer AC, et al. Communication disorders in children with neurofibromatosis type I. Chapter 6 in Rubenstein AE, Korf BR. Neurofibromatosis: a handbook for patients, families, and health-care professionals. New York: Thieme Medical Publishers, 1990, pp. 59-70. • Stumpf DA, Alksne JF, Annegers JF, et al. Neurofibromatosis Conference Statement. National Institutes of Health Consensus Development Conference. Arch Neurol 1988; 45: 575-78. • Truhan AP, Filipek PA. Magnetic resonance imaging: its role in the neuroradiologic evaluation of neurofibromatosis, tuberous sclerosis, and Sturge-Weber syndrome. Arch Dermatol 1993 Feb; 129(2): 219-26. • Viskochil D, White R, Cawthon R. The neurofibromatosis type 1 gene. Annu Rev Neurosci 1993; 16: 183-205. • Wallace MR, Marchuk DA, Anderson LB, et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three neurofibromatosis 1 patients. Science 1990 Jul 13; 249(4965): 181-6. Published erratum appears in Science 1990 Dec 21; 250(4988): 1749.
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