-
1
-
-
0030957310
-
The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2
-
Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, et al: The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 1997;278:51-57. (Pubitemid 27274517)
-
(1997)
Journal of the American Medical Association
, vol.278
, Issue.1
, pp. 51-57
-
-
Gutmann, D.H.1
Aylsworth, A.2
Carey, J.C.3
Korf, B.4
Marks, J.5
Pyeritz, R.E.6
Rubenstein, A.7
Viskochil, D.8
-
2
-
-
84864601375
-
The Phakomatoses
-
Rimoin DL, Connor JM, Pyeritz RE, Korf BR eds:, ed 5, Edinburgh, Churchill Livingstone
-
Huson SM, Korf BR: The Phakomatoses; in Rimoin DL, Connor JM, Pyeritz RE, Korf BR (eds): Principles and Practice of Medical Genetics, ed 5. Edinburgh, Churchill Livingstone, 2007, pp 2817-2850.
-
(2007)
Principles and Practice of Medical Genetics
, pp. 2817-2850
-
-
Huson, S.M.1
Korf, B.R.2
-
3
-
-
0004116973
-
-
New York, Thieme Medical Publishers
-
Korf BR, Rubenstein AE: Neurofibromatosis: A Handbook for Patients, Families, and Health Care Professionals. New York, Thieme Medical Publishers, 2005.
-
(2005)
Neurofibromatosis: A Handbook for Patients, Families, and Health Care Professionals
-
-
Korf, B.R.1
Rubenstein, A.E.2
-
4
-
-
84870217928
-
Clinical phenotypes in patients with NF1 microdeletions
-
Kaufmann D ed
-
Tinschert S: Clinical phenotypes in patients with NF1 microdeletions; in Kaufmann D (ed): Neurofibromatoses. Monogr Hum Genet 2008;16:78-88.
-
(2008)
Neurofibromatoses. Monogr Hum Genet
, vol.16
, pp. 78-88
-
-
Tinschert, S.1
-
5
-
-
33845974480
-
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
-
DOI 10.1086/510781
-
Upadhyaya M, Huson SM, Davies M, Thomas N, Giovannini S, et al: A complete absence of cutaneous neurofibromas associated with a 3-bp in-frame deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): A clinically significant genotype-phenotype correlation? Am J Hum Genet 2007;80:140-151. (Pubitemid 46047657)
-
(2007)
American Journal of Human Genetics
, vol.80
, Issue.1
, pp. 140-151
-
-
Upadhyaya, M.1
Huson, S.M.2
Davies, M.3
Thomas, N.4
Chuzhanova, N.5
Giovannini, S.6
Evans, D.G.7
Howard, E.8
Kerr, B.9
Griffiths, S.10
Consoli, C.11
Side, L.12
Adams, D.13
Pierpont, M.14
Hachen, R.15
Barnicoat, A.16
Li, H.17
Wallace, P.18
Van Biervliet, J.P.19
Stevenson, D.20
Viskochil, D.21
Baralle, D.22
Haan, E.23
Riccardi, V.24
Turnpenny, P.25
Lazaro, C.26
Messiaen, L.27
more..
-
6
-
-
34548328245
-
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype
-
DOI 10.1038/ng2113, PII NG2113
-
Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, et al: Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis type 1-like phenotype. Nat Genet 2007;39:1120-1126. (Pubitemid 47340658)
-
(2007)
Nature Genetics
, vol.39
, Issue.9
, pp. 1120-1126
-
-
Brems, H.1
Chmara, M.2
Sahbatou, M.3
Denayer, E.4
Taniguchi, K.5
Kato, R.6
Somers, R.7
Messiaen, L.8
De Schepper, S.9
Fryns, J.-P.10
Cools, J.11
Marynen, P.12
Thomas, G.13
Yoshimura, A.14
Legius, E.15
-
7
-
-
20444406794
-
Diagnostic criteria for schwannomatosis
-
DOI 10.1212/01.WNL.0000163982.78900.AD
-
MacCollin M, Chiocca EA, Evans DG, Friedman JM, Horvitz R, et al: Diagnostic criteria for schwannomatosis. Neurology 2005;64:1838-1845. (Pubitemid 40800695)
-
(2005)
Neurology
, vol.64
, Issue.11
, pp. 1838-1845
-
-
MacCollin, M.1
Chiocca, E.A.2
Evans, D.G.3
Friedman, J.M.4
Horvitz, R.5
Jaramillo, D.6
Lev, M.7
Mautner, V.F.8
Niimura, M.9
Plotkin, S.R.10
Sang, C.N.11
Stemmer-Rachamimov, A.12
Roach, E.S.13
-
8
-
-
34147192050
-
Germline mutation of INI1/SMARCB1 in familial schwannomatosis
-
DOI 10.1086/513207
-
Hulsebos T J M, Plomp AS, Wolterman RA, Robanus-Maandag Els C, Baas F, Wesseling P: Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet 2007;80:805-810. (Pubitemid 46564417)
-
(2007)
American Journal of Human Genetics
, vol.80
, Issue.4
, pp. 805-810
-
-
Hulsebos, T.J.M.1
Plomp, A.S.2
Wolterman, R.A.3
Robanus-Maandag, E.C.4
Baas, F.5
Wesseling, P.6
-
9
-
-
33644829154
-
Stops along the RAS pathway in human genetic disease
-
DOI 10.1038/nm0306-283, PII N0306283
-
Bentires-Alj M, Kontardis MI, Neel BG: Stops along the RAS pathway in human genetic disease. Nat Med 2006;12:283-285. (Pubitemid 43355073)
-
(2006)
Nature Medicine
, vol.12
, Issue.3
, pp. 283-285
-
-
Bentires-Alj, M.1
Kontaridis, M.I.2
Neel, B.G.3
-
10
-
-
84870166611
-
What's new in the neuro-cardio-facial-cutaneous syndromes?
-
Denayer E, Legius E: What's new in the neuro-cardio-facial-cutaneous syndromes? Eur J Pediatr 2007;431:535-537.
-
(2007)
Eur J Pediatr
, vol.431
, pp. 535-537
-
-
Denayer, E.1
Legius, E.2
-
12
-
-
0023885121
-
Consensus development conference of neurofibromatosis
-
Stumpf D: Consensus development conference of neurofibromatosis. Arch Neurol 1988;45:575-578.
-
(1988)
Arch Neurol
, vol.45
, pp. 575-578
-
-
Stumpf, D.1
-
13
-
-
0020173464
-
Neurofibromatosis; clinical heterogeneity
-
Riccardi VM: Neurofibromatosis; clinical heterogeneity. Curr Prob Cancer 1982;VII:1-34.
-
(1982)
Curr Prob Cancer
, vol.7
, pp. 1-34
-
-
Riccardi, V.M.1
-
14
-
-
0037058777
-
Evaluation of clinical diagnostic criteria for neurofibromatosis 2
-
Baser ME, Friedman JM, Wallace AJ, Ramsden RT, Joe H, Evans D G R: Evaluation of clinical diagnostic criteria for neurofibromatosis 2. Neurology 2002;59:1759-1765. (Pubitemid 35424459)
-
(2002)
Neurology
, vol.59
, Issue.11
, pp. 1759-1765
-
-
Baser, M.E.1
Friedman, J.M.2
Wallace, A.J.3
Ramsden, R.T.4
Joe, H.5
Evans, D.G.R.6
-
15
-
-
0027096707
-
Nosological considerations of the neurofibromatoses
-
Viskochil DH, Carey JC: Nosological considerations of the neurofibromatoses. J Dermatol 1992;19:873-880. (Pubitemid 23119664)
-
(1992)
Journal of Dermatology
, vol.19
, Issue.11
, pp. 873-880
-
-
Viskochil, D.1
Carey, J.C.2
-
16
-
-
0026048268
-
Watson syndrome: Is it a sub-type of neurofibromatosis?
-
Allanson JE, Upadhyaya M, Watson GH, Partington M, Lakey D, et al: Watson syndrome: Is it a sub-type of neurofibromatosis? J Med Genet 1991;28:752-756.
-
(1991)
J Med Genet
, vol.28
, pp. 752-756
-
-
Allanson, J.E.1
Upadhyaya, M.2
Watson, G.H.3
Partington, M.4
Lakey, D.5
-
17
-
-
0035849530
-
The clinical and diagnostic implications of mosaicism in the neurofibromatoses
-
Ruggieri M, Huson SM: The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology 2001;56:1433-1443. (Pubitemid 32532254)
-
(2001)
Neurology
, vol.56
, Issue.11
, pp. 1433-1443
-
-
Ruggieri, M.1
Huson, S.M.2
-
18
-
-
34547796898
-
Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1
-
DOI 10.1086/519562
-
Maertens O, De Schepper S, Van De Sompele J, Brems H, Heyns I, et al: Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. Am J Hum Genet 2007;81:243-251. (Pubitemid 47236073)
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.2
, pp. 243-251
-
-
Maertens, O.1
De Schepper, S.2
Vandesompele, J.3
Brems, H.4
Heyns, I.5
Janssens, S.6
Speleman, F.7
Legius, E.8
Messiaen, L.9
-
20
-
-
84870158746
-
Molecular studies on Schwannomatosis
-
Kaufmann D ed
-
Kluwe L: Molecular studies on Schwannomatosis; in Kaufmann D (ed): Neurofibromatoses. Monogr Hum Genet 2008;16:177-188.
-
(2008)
Neurofibromatoses. Monogr Hum Genet
, vol.16
, pp. 177-188
-
-
Kluwe, L.1
-
21
-
-
0024205878
-
Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales
-
Huson SM, Harper PS, Compston D A S: Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales. Brain 1988;111:1355-1381. (Pubitemid 19028458)
-
(1988)
Brain
, vol.111
, Issue.6
, pp. 1355-1381
-
-
Huson, S.M.1
Harper, P.S.2
Compston, D.A.S.3
-
22
-
-
0031044804
-
Optic pathway gliomas in children with neurofibromatosis 1: Consensus statement from the NF1 optic pathway glioma task force
-
DOI 10.1002/ana.410410204
-
Listernick R, Louis DN, Packer RJ, Gutmann DH: Optic pathway gliomas in children with neurofibromatosis 1: consensus statement from the NF1 Optic Pathway Glioma Task Force. Ann Neurol 1997;41:143-149. (Pubitemid 27082094)
-
(1997)
Annals of Neurology
, vol.41
, Issue.2
, pp. 143-149
-
-
Listernick, R.1
Louis, D.N.2
Packer, R.J.3
Gutmann, D.H.4
-
23
-
-
0004023211
-
-
Baltimore, Johns Hopkins University Press
-
Riccardi VM, Eichner JE: Neurofibromatosis: Phenotype, Natural History, and Pathogenesis. Baltimore, Johns Hopkins University Press, 1992.
-
(1992)
Neurofibromatosis: Phenotype, Natural History, and Pathogenesis
-
-
Riccardi, V.M.1
Eichner, J.E.2
-
24
-
-
0036675039
-
Multifocal glomus tumours in the fingers of two patients with neurofibromatosis type 1
-
De Smet L, Sciot R, Legius E: Multifocal glomus tumours in the fingers of two patients with neurofibromatosis type 1. J Med Genet 2002;39:e45.
-
(2002)
J Med Genet
, vol.39
-
-
De Smet, L.1
Sciot, R.2
Legius, E.3
-
25
-
-
0036096489
-
Malignant peripheral nerve sheath tumours in neurofibromatosis
-
Evans DG, Baser ME, McGaughran J, Sharif S, Howard E, Moran A: Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet 2002;39:311-314. (Pubitemid 34526349)
-
(2002)
Journal of Medical Genetics
, vol.39
, Issue.5
, pp. 311-314
-
-
Evans, D.G.R.1
Baser, M.E.2
McGaughran, J.3
Sharif, S.4
Howard, E.5
Moran, A.6
-
26
-
-
34447562827
-
Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening
-
DOI 10.1136/jmg.2007.049346
-
Sharif S, Moran A, Huson SM, Iddenden R, Shenton A, et al: Women with neurofibromatosis 1 are at moderately increased risk of developing breast cancer and should be considered for early screening. J Med Genet 2007;44:481-484. (Pubitemid 47325733)
-
(2007)
Journal of Medical Genetics
, vol.44
, Issue.8
, pp. 481-484
-
-
Sharif, S.1
Moran, A.2
Huson, S.M.3
Iddenden, R.4
Shenton, A.5
Howard, E.6
Evans, D.G.R.7
-
27
-
-
0034081412
-
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
-
DOI 10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N
-
Messiaen LM, Callens T, Mortier G, Beysen D, Van Den Broucke I, et al: 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;15:541-555. (Pubitemid 30368440)
-
(2000)
Human Mutation
, vol.15
, Issue.6
, pp. 541-555
-
-
Messiaen, L.M.1
Callens, T.2
Mortier, G.3
Beysen, D.4
Vandenbroucke, I.5
Van Roy, N.6
Speleman, F.7
De Paepe, A.8
-
28
-
-
33846660119
-
Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations
-
DOI 10.1038/ncponc0719, PII NCPONC0719
-
Scott RH, Mansour S, Pritchard-Jones K, Kumar D, MacSweeney F, Rahman N: Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations. Nat Clin Pract Oncol 2007;4:130-134. (Pubitemid 46189541)
-
(2007)
Nature Clinical Practice Oncology
, vol.4
, Issue.2
, pp. 130-134
-
-
Scott, R.H.1
Pritchard-Jones, K.2
Rahman, N.3
Mansour, S.4
Kumar, D.5
MacSweeney, F.6
-
29
-
-
29144462041
-
Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations
-
DOI 10.1007/s10689-005-8351-6
-
Bandipalliam P: Syndrome of early onset colon cancers, hematologic malignancies and features of neurofibromatosis in HNPCC families with homozygous mismatch repair mutations. Fam Cancers 2005;4:323-333. (Pubitemid 41795810)
-
(2005)
Familial Cancer
, vol.4
, Issue.4
, pp. 323-333
-
-
Bandipalliam, P.1
-
30
-
-
0023693640
-
Multiple colorectal carcinomas, polyposis coli, and neurofibromatosis
-
Pratt CB, Parham DM, Rao BN, Fleming ID, Dilawari R: Multiple colorectal carcinomas, polyposis coli, and neurofibromatosis. J Natl Cancer Inst 1988;80:1170-1172.
-
(1988)
J Natl Cancer Inst
, vol.80
, pp. 1170-1172
-
-
Pratt, C.B.1
Parham, D.M.2
Rao, B.N.3
Fleming, I.D.4
Dilawari, R.5
-
31
-
-
0037315934
-
Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type
-
Wang Q, Montmain G, Ruano E, Upadhyaya M, Dudley S, et al: Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type. Hum Genet 2003;112:117-123. (Pubitemid 36869093)
-
(2003)
Human Genetics
, vol.112
, Issue.2
, pp. 117-123
-
-
Wang, Q.1
Mountmain, G.2
Ruano, E.3
Upadhyaya, M.4
Dudley, S.5
Liskay, R.M.6
Thibodeau, S.N.7
Puisieux, A.8
-
32
-
-
0041667820
-
Mlh1 deficiency accelerates myeloid leukemogenesis in neurofibromatosis 1 (Nf1) heterozygous mice
-
DOI 10.1038/sj.onc.1206768
-
Gutmann DH, Winkeler E, Kabbarah O, Hedrick N, Dudley S, et al: Mlh1 deficiency accelerates myeloid leukemogenesis in neurofibromatosis 1 (Nf1) heterozygous mice. Oncogene 2003;22:4581-4585. (Pubitemid 36920702)
-
(2003)
Oncogene
, vol.22
, Issue.29
, pp. 4581-4585
-
-
Gutmann, D.H.1
Winkeler, E.2
Kabbarah, O.3
Hedrick, N.4
Dudley, S.5
Goodfellow, P.J.6
Liskay, R.M.7
-
33
-
-
34547657613
-
The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1
-
DOI 10.1097/GIM.0b013e3180986e05, PII 0012581720070700000002
-
Stevenson DA, Viskochil DH, Schorry EK, Crawford AH, D'Astous J, et al: The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1. Genet Med 2007;9:409-412. (Pubitemid 47222133)
-
(2007)
Genetics in Medicine
, vol.9
, Issue.7
, pp. 409-412
-
-
Stevenson, D.A.1
Viskochil, D.H.2
Schorry, E.K.3
Crawford, A.H.4
D'Astous, J.5
Murray, K.A.6
Friedman, J.M.7
Armstrong, L.8
Carey, J.C.9
-
34
-
-
84870201398
-
NF1 gene structure and NF1 genotype/phenotype correlations
-
Kaufmann D ed
-
Upadhyaya M: NF1 gene structure and NF1 genotype/phenotype correlations; in Kaufmann D (ed): Neurofibromatoses. Monogr Hum Genet 2008;16:46-62.
-
(2008)
Neurofibromatoses. Monogr Hum Genet
, vol.16
, pp. 46-62
-
-
Upadhyaya, M.1
-
35
-
-
0027379865
-
An analysis of variation in expression of NF1: Evidence for modifying genes
-
Easton DF, Ponder MA, Huson SM, Ponder B A J: An analysis of variation in expression of NF1:evidence for modifying genes. Am J Hum Genet 1993;53:305-315.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 305-315
-
-
Easton, D.F.1
Ponder, M.A.2
Huson, S.M.3
Ponder, B.A.J.4
-
36
-
-
27144550883
-
Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1
-
Consoli C, Moss C, Green S, Balderson D, Cooper DN, Upadhyaya M: Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1. J Invest Dermatol 2005;125:463-466.
-
(2005)
J Invest Dermatol
, vol.125
, pp. 463-466
-
-
Consoli, C.1
Moss, C.2
Green, S.3
Balderson, D.4
Cooper, D.N.5
Upadhyaya, M.6
-
37
-
-
0034080551
-
Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene
-
DOI 10.1038/sj.ejhg.5200493
-
Tinschert S, Naumann I, Stegmann E, Buske A, Kaufmann D, et al: Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene. Eur J Hum Genet 2000;8:455-459. (Pubitemid 30364826)
-
(2000)
European Journal of Human Genetics
, vol.8
, Issue.6
, pp. 455-459
-
-
Tinschert, S.1
Naumann, I.2
Stegmann, E.3
Buske, A.4
Kaufmann, D.5
Thiel, G.6
Jenne, D.E.7
-
38
-
-
0036084905
-
Segmental neurofibromatosis
-
DOI 10.1159/000063363
-
Schultz ES, Kaufmann D, Tinschert S, Schell H, Von Den Driesch P, Schuler G: Segmental neurofibromatosis. Dermatology 2002;204:296-297. (Pubitemid 34665149)
-
(2002)
Dermatology
, vol.204
, Issue.4
, pp. 296-297
-
-
Schultz, E.S.1
Kaufmann, D.2
Tinschert, S.3
Schell, H.4
Von Den Driesch, P.5
Schuler, G.6
-
39
-
-
0027526289
-
Autosomal dominant multiple cafe-au-lait spots and neurofibromatosis-1: Evidence of non-linkage
-
Charrow J, Listernick R, Ward K: Autosomal dominant multiple café-au-lait spots and neurofibromatosis 1: evidence of non-linkage. Am J Med Genet 1993;45:606-608. (Pubitemid 23066426)
-
(1993)
American Journal of Medical Genetics
, vol.45
, Issue.5
, pp. 606-608
-
-
Charrow, J.1
Listernick, R.2
Ward, K.3
-
40
-
-
0027223451
-
Exclusion of the neurofibromatosis 1 locus in a family with inherited cafe-au-lait spots
-
Brunner HG, Hulsebos T, Steijlen PM, der Kinderen DJ, Vd Steen A, Hamel BC: Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots. Am J Med Genet 1993;46:472-474. (Pubitemid 23149698)
-
(1993)
American Journal of Medical Genetics
, vol.46
, Issue.4
, pp. 472-474
-
-
Brunner, H.G.1
Hulsebos, T.2
Steijlen, P.M.3
Der Kinderen, D.J.4
Steen, A.V.D.5
Hamel, B.C.J.6
-
41
-
-
0028971493
-
Familial café-au-lait spots: A variant of neurof ibromatosis type 1
-
Abeliovich D, Gelman-Kohan Z, Silverstein S, Lerer I, Chemke J, et al: Familial café-au-lait spots: a variant of neurof ibromatosis type 1. J Med Genet 1995;32:985-986.
-
(1995)
J Med Genet
, vol.32
, pp. 985-986
-
-
Abeliovich, D.1
Gelman-Kohan, Z.2
Silverstein, S.3
Lerer, I.4
Chemke, J.5
-
42
-
-
0014094718
-
Pulmonary stenosis, cafe-au-lait spots, and dull intelligence
-
Watson GH: Pulmonary stenosis, cafe-au-lait spots, and dull intelligence. Arch Dis Child 1967;42:303-307.
-
(1967)
Arch Dis Child
, vol.42
, pp. 303-307
-
-
Watson, G.H.1
-
43
-
-
0026048268
-
Watson syndrome: Is it a subtype of type 1 neurofibromatosis?
-
Allanson JE, Upadhyaya M, Watson GH, Partington M, MacKenzie A, et al: Watson syndrome: is it a subtype of type 1 neurofibromatosis? J Med Genet 1991;2811:752-756. (Pubitemid 21922545)
-
(1991)
Journal of Medical Genetics
, vol.28
, Issue.11
, pp. 752-756
-
-
Allanson, J.E.1
Upadhyaya, M.2
Watson, G.H.3
Partington, M.4
MacKenzie, A.5
Lahey, D.6
MacLeod, H.7
Sarfarazi, M.8
Broadhead, W.9
Harper, P.S.10
Huson, S.M.11
-
44
-
-
0027363277
-
Tandem duplication within a neurofibromatosis type I (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome
-
Tassabehji M, Strachan T, Sharland M, Colley A, Donnai D, et al: Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. Am J Hum Genet 1993;53:90-95. (Pubitemid 23313739)
-
(1993)
American Journal of Human Genetics
, vol.53
, Issue.1
, pp. 90-95
-
-
Tassabehji, M.1
Strachan, T.2
Sharland, M.3
Colley, A.4
Donnai, D.5
Harris, R.6
Thakker, N.7
-
45
-
-
0027029581
-
Analysis of mutations at the neurofibromatosis 1 (NF1) locus
-
Upadhyaya M, Shen M, Cherryson A, Farnham J, Maynard J, et al: Analysis of mutations at the neurofibromatosis 1 (NF1) locus. Hum Mol Genet 1992;1:735-740.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 735-740
-
-
Upadhyaya, M.1
Shen, M.2
Cherryson, A.3
Farnham, J.4
Maynard, J.5
-
46
-
-
0021808829
-
The neurofibromatosis-Noonan syndrome
-
Opitz JM, Weaver DD: The neurofibromatosis-Noonan syndrome. Am J Med Genet 1985;21:477-490.
-
(1985)
Am J Med Genet
, vol.21
, pp. 477-490
-
-
Opitz, J.M.1
Weaver, D.D.2
-
47
-
-
0029993451
-
Neurofibromatosis/Noonan phenotype: A variable feature of type 1 neurofibromatosis
-
Colley A, Donnai D, Evans DG: Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis. Clin Genet 1996;49:59-64. (Pubitemid 26116815)
-
(1996)
Clinical Genetics
, vol.49
, Issue.2
, pp. 59-64
-
-
Colley, A.1
Donnai, D.2
Evans, D.G.R.3
-
48
-
-
0034168901
-
Neurofibromatosis-Noonan syndrome or LEOPARD syndrome? A clinical dilemma
-
Tullu MS, Muranjan MN, Kantharia VC, Parmar RC, Sahu DR, et al: Neurofibromatosis-Noonan syndrome or LEOPARD syndrome? A clinical dilemma. J Postgrad Med 2000;46:98-100.
-
(2000)
J Postgrad Med
, vol.46
, pp. 98-100
-
-
Tullu, M.S.1
Muranjan, M.N.2
Kantharia, V.C.3
Parmar, R.C.4
Sahu, D.R.5
-
49
-
-
0042322278
-
Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS)
-
Baralle D, Mattocks C, Kalidas K, Elmslie F, Whittaker J, et al: Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). Am J Med Genet 2003;119:1-8. (Pubitemid 37063906)
-
(2003)
American Journal of Medical Genetics
, vol.119 A
, Issue.1
, pp. 1-8
-
-
Baralle, D.1
Mattocks, C.2
Kalidas, K.3
Elmslie, F.4
Whittaker, J.5
Lees, M.6
Ragge, N.7
Patton, M.A.8
Winter, R.M.9
Ffrench-Constant, C.10
-
50
-
-
0031899827
-
A clinical variant of neurofibromatosis type 1: Familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene
-
DOI 10.1086/301803
-
Ars E, Kruyer H, Gaona A, Casquero P, Rosell J, et al: A clinical variant of neurofibromatosis type one: familial spinal neurofibromatosis. Am J Hum Genet 1998;62:834-841. (Pubitemid 28194325)
-
(1998)
American Journal of Human Genetics
, vol.62
, Issue.4
, pp. 834-841
-
-
Ars, E.1
Kruyer, H.2
Gaona, A.3
Casquero, P.4
Resell, J.5
Volpini, V.6
Serra, E.7
Lazaro, C.8
Estivill, X.9
-
51
-
-
0031037210
-
Hereditary spinal neurofibromatosis: A rare form of NF1?
-
Poyhonen M, Leisti E-L, Kytolo S, Leist J: Hereditary spinal neurofibromatosis: a rare form of NF1? J Med Genet 1997;34:184-187. (Pubitemid 27107637)
-
(1997)
Journal of Medical Genetics
, vol.34
, Issue.3
, pp. 184-187
-
-
Poyhonen, M.1
Leisti, E.-L.2
Kytola, S.3
Leisti, J.4
-
52
-
-
0026335083
-
Familial spinal neurofibromatosis: Clinical and DNA linkage analysis
-
Pulst SM, Riccardi VM, Fain P, Korenberg JR: Familial spinal neurofibromatosis: clinical and DNA linkage analysis. Neurology 1991;41:1923-1927.
-
(1991)
Neurology
, vol.41
, pp. 1923-1927
-
-
Pulst, S.M.1
Riccardi, V.M.2
Fain, P.3
Korenberg, J.R.4
-
53
-
-
84879844124
-
Genotype-phenotype correlations in spinal NF. Poster presentation
-
Messiaen L, Callens T, Williams JB, Babovic-Vuksanovic D, Huson S, et al: Genotype-phenotype correlations in spinal NF. Poster presentation, Am Soc Hum Genet 2007.
-
(2007)
Am Soc Hum Genet
-
-
Messiaen, L.1
Callens, T.2
Williams, J.B.3
Babovic-Vuksanovic, D.4
Huson, S.5
-
54
-
-
0024453106
-
A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II Guidelines for genetic counselling
-
Huson SM, Compston DA, Harper PS: A genetic study of von Recklinghausen neurof ibromatosis in south east Wales. II. Guidelines for genetic counselling. J Med Genet 1989;26:712-721. (Pubitemid 19270600)
-
(1989)
Journal of Medical Genetics
, vol.26
, Issue.11
, pp. 712-721
-
-
Huson, S.M.1
Compston, D.A.S.2
Harper, P.S.3
-
55
-
-
0026475254
-
Diagnostic outcome in children with multiple café au lait spots
-
Korf BR: Diagnostic outcome in children with multiple café au lait spots. Pediatrics 1992;90:924-927.
-
(1992)
Pediatrics
, vol.90
, pp. 924-927
-
-
Korf, B.R.1
-
56
-
-
22544487213
-
Association between benign and malignant peripheral nerve sheath tumors in NF1
-
DOI 10.1212/01.wnl.0000168830.79997.13
-
Tucker T, Wolkenstein P, Reviz J, Zeller J, Friedman JM: Association between benign and malignant nerve sheath tumors in NF1. Neurology 2005;65:205-211. (Pubitemid 41022362)
-
(2005)
Neurology
, vol.65
, Issue.2
, pp. 205-211
-
-
Tucker, T.1
Wolkenstein, P.2
Revuz, J.3
Zeller, J.4
Friedman, J.M.5
|