Related Content
Search Google Scholar for:
|
|
Science 13 July 1990: Vol. 249. no. 4965, pp. 181 - 186 DOI: 10.1126/science.2134734
|
|
Articles
Science, Vol 249, Issue 4965, 181-186
Copyright © 1990 by American Association for the Advancement of Science
Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients
MR Wallace,
DA Marchuk,
LB Andersen,
R Letcher,
HM Odeh,
AM Saulino,
JW Fountain,
A Brereton,
J Nicholson,
AL Mitchell,
and
al. et
Howard Hughes Medical Institute, Ann Arbor, MI.
Von Recklinghausen neurofibromatosis (NF1) is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from the neural crest. No reliable cellular phenotypic marker has been identified, which has hampered direct efforts to identify the gene. The chromosome location of the NF1 gene has been previously mapped genetically to 17q11.2, and data from two NF1 patients with balanced translocations in this region have further narrowed the candidate interval. The use of chromosome jumping and yeast artificial chromosome technology has now led to the identification of a large (approximately 13 kilobases) ubiquitously expressed transcript (denoted NF1LT) from this region that is definitely interrupted by one and most likely by both translocations. Previously identified candidate genes, which failed to show abnormalities in NF1 patients, are apparently located within introns of NF1LT, on the antisense strand. A new mutation patient with NF1 has been identified with a de novo 0.5-kilobase insertion in the NF1LT gene. These observations, together with the high spontaneous mutation rate of NF1 (which is consistent with a large locus), suggest that NF1LT represents the elusive NF1 gene.
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
- Rac1 mediates the osteoclast gains-in-function induced by haploinsufficiency of Nf1.
- J. Yan, S. Chen, Y. Zhang, X. Li, Y. Li, X. Wu, J. Yuan, A. G. Robling, R. Karpur, R. J. Chan, et al. (2008)
Hum. Mol. Genet.
17, 936-948
| Abstract »
| Full Text »
| PDF »
- Neurofibromin Is Required for Barrel Formation in the Mouse Somatosensory Cortex.
- M. E. Lush, Y. Li, C.-H. Kwon, J. Chen, and L. F. Parada (2008)
J. Neurosci.
28, 1580-1587
| Abstract »
| Full Text »
| PDF »
- Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification.
- A De Luca, I Bottillo, M C Dasdia, A Morella, V Lanari, L Bernardini, L Divona, S Giustini, L Sinibaldi, A Novelli, et al. (2007)
J. Med. Genet.
44, 800-808
| Abstract »
| Full Text »
| PDF »
- De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.
- O. Sovik, S. Schubbert, G. Houge, S. J Steine, G. Norgard, B. Engelsen, P. R Njolstad, K. Shannon, and A. Molven (2007)
J. Med. Genet.
44, e84
| Abstract »
| Full Text »
| PDF »
- K-ras Is Critical for Modulating Multiple c-kit-Mediated Cellular Functions in Wild-Type and Nf1+/- Mast Cells.
- W. F. Khalaf, F.-C. Yang, S. Chen, H. White, W. Bessler, D. A. Ingram, and D. W. Clapp (2007)
J. Immunol.
178, 2527-2534
| Abstract »
| Full Text »
| PDF »
- Microarray-Based Identification of Tenascin C and Tenascin XB, Genes Possibly Involved in Tumorigenesis Associated with Neurofibromatosis Type 1.
- P. Levy, H. Ripoche, I. Laurendeau, V. Lazar, N. Ortonne, B. Parfait, K. Leroy, J. Wechsler, I. Salmon, P. Wolkenstein, et al. (2007)
Clin. Cancer Res.
13, 398-407
| Abstract »
| Full Text »
| PDF »
- Neurofibromin plays a critical role in modulating osteoblast differentiation of mesenchymal stem/progenitor cells.
- X. Wu, S. A. Estwick, S. Chen, M. Yu, W. Ming, T. D. Nebesio, Y. Li, J. Yuan, R. Kapur, D. Ingram, et al. (2006)
Hum. Mol. Genet.
15, 2837-2845
| Abstract »
| Full Text »
| PDF »
- Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1.
- M Lammert, J M Friedman, H J Roth, R E Friedrich, L Kluwe, D Atkins, T Schooler, and V-F Mautner (2006)
J. Med. Genet.
43, 810-813
| Abstract »
| Full Text »
| PDF »
- The Ras Inhibitor Farnesylthiosalicylic Acid as a Potential Therapy for Neurofibromatosis Type 1..
- B. Barkan, S. Starinsky, E. Friedman, R. Stein, and Y. Kloog (2006)
Clin. Cancer Res.
12, 5533-5542
| Abstract »
| Full Text »
| PDF »
- Nf1+/- mast cells induce neurofibroma like phenotypes through secreted TGF-{beta} signaling.
- F.-C. Yang, S. Chen, T. Clegg, X. Li, T. Morgan, S. A. Estwick, J. Yuan, W. Khalaf, S. Burgin, J. Travers, et al. (2006)
Hum. Mol. Genet.
15, 2421-2437
| Abstract »
| Full Text »
| PDF »
- Analysis of PTEN Mutation in Non-familial Pheochromocytoma..
- J. PUC, G. PLACHA, B. WOCIAL, K. PODSYPANINA, R. PARSONS, and Z. GACIONG (2006)
Ann. N.Y. Acad. Sci.
1073, 317-331
| Abstract »
| Full Text »
| PDF »
- Should Patients with Apparently Sporadic Pheochromocytomas or Paragangliomas be Screened for Hereditary Syndromes?.
- C. Jimenez, G. Cote, A. Arnold, and R. F. Gagel (2006)
J. Clin. Endocrinol. Metab.
91, 2851-2858
| Abstract »
| Full Text »
| PDF »
- Neurofibromin is a novel regulator of RAS-induced signals in primary vascular smooth muscle cells.
- F. Li, A. M. Munchhof, H. A. White, L. E. Mead, T. R. Krier, A. Fenoglio, S. Chen, X. Wu, S. Cai, F.-C. Yang, et al. (2006)
Hum. Mol. Genet.
15, 1921-1930
| Abstract »
| Full Text »
| PDF »
- Structural variants: changing the landscape of chromosomes and design of disease studies..
- L. Feuk, C. R. Marshall, R. F. Wintle, and S. W. Scherer (2006)
Hum. Mol. Genet.
15, R57-R66
| Abstract »
| Full Text »
| PDF »
- Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients.
- O. Maertens, H. Prenen, M. Debiec-Rychter, A. Wozniak, R. Sciot, P. Pauwels, I. De Wever, J. R. Vermeesch, T. de Raedt, A. De Paepe, et al. (2006)
Hum. Mol. Genet.
15, 1015-1023
| Abstract »
| Full Text »
| PDF »
- NF1 Gene Expression in Mouse Fracture Healing and in Experimental Rat Pseudarthrosis.
- T. Kuorilehto, E. Ekholm, M. Nissinen, K. Hietaniemi, A. Hiltunen, P. Paavolainen, R. Penttinen, and J. Peltonen (2006)
J. Histochem. Cytochem.
54, 363-370
| Abstract »
| Full Text »
| PDF »
- Optic nerve sheath meningiomas in patients with neurofibromatosis type 2..
- M. M. Bosch, W. W. Wichmann, E. Boltshauser, and K. Landau (2006)
Arch Ophthalmol
124, 379-385
| Abstract »
| Full Text »
| PDF »
- cDNA microarray analysis of cancer associated gene expression profiles in malignant peripheral nerve sheath tumours.
- K Karube, K Nabeshima, M Ishiguro, M Harada, and H Iwasaki (2006)
J. Clin. Pathol.
59, 160-165
| Abstract »
| Full Text »
| PDF »
- Sensory Neurons From Nf1 Haploinsufficient Mice Exhibit Increased Excitability.
- Y. Wang, G. D. Nicol, D. W. Clapp, and C. M. Hingtgen (2005)
J Neurophysiol
94, 3670-3676
| Abstract »
| Full Text »
| PDF »
- Transcriptional Repression of the Neurofibromatosis-1 Tumor Suppressor by the t(8;21) Fusion Protein.
- G. Yang, W. Khalaf, L. van de Locht, J. H. Jansen, M. Gao, M. A. Thompson, B. A. van der Reijden, D. H. Gutmann, R. Delwel, D. W. Clapp, et al. (2005)
Mol. Cell. Biol.
25, 5869-5879
| Abstract »
| Full Text »
| PDF »
- Prevalence of Neurofibromatosis 1 in German Children at Elementary School Enrollment.
- M. Lammert, J. M. Friedman, L. Kluwe, and V. F. Mautner (2005)
Arch Dermatol
141, 71-74
| Abstract »
| Full Text »
| PDF »
- Circulating Growth Factor Levels Are Associated with Tumorigenesis in Neurofibromatosis Type 1.
- G. A. Mashour, P. H. Driever, M. Hartmann, S. N. Drissel, T. Zhang, B. Scharf, U. Felderhoff-Muser, S. Sakuma, R. E. Friedrich, R. L. Martuza, et al. (2004)
Clin. Cancer Res.
10, 5677-5683
| Abstract »
| Full Text »
| PDF »
- Molecular Profiles of Neurofibromatosis Type 1-Associated Plexiform Neurofibromas: Identification of a Gene Expression Signature of Poor Prognosis.
- P. Levy, I. Bieche, K. Leroy, B. Parfait, J. Wechsler, I. Laurendeau, P. Wolkenstein, M. Vidaud, and D. Vidaud (2004)
Clin. Cancer Res.
10, 3763-3771
| Abstract »
| Full Text »
| PDF »
- Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.
- C Mattocks, D Baralle, P Tarpey, C ffrench-Constant, M Bobrow, and J Whittaker (2004)
J. Med. Genet.
41, e48
| Full Text »
| PDF »
- Loss of the Nf1 Tumor Suppressor Gene Decreases Fas Antigen Expression in Myeloid Cells.
- K. Hiatt, D. A. Ingram, H. Huddleston, D. F. Spandau, R. Kapur, and D. W. Clapp (2004)
Am. J. Pathol.
164, 1471-1479
| Abstract »
| Full Text »
| PDF »
- Topoisomerase-II{alpha} Is Upregulated in Malignant Peripheral Nerve Sheath Tumors and Associated With Clinical Outcome.
- R. I. Skotheim, A. Kallioniemi, B. Bjerkhagen, F. Mertens, H. R. Brekke, O. Monni, S. Mousses, N. Mandahl, G. Soeter, J. M. Nesland, et al. (2003)
J. Clin. Oncol.
21, 4586-4591
| Abstract »
| Full Text »
| PDF »
- Preliminary observations on genetic alterations in pilocytic astrocytomas associated with neurofibromatosis 1.
- K. Tada, M. Kochi, H. Saya, J.-i. Kuratsu, S. Shiraishi, T. Kamiryo, N. Shinojima, and Y. Ushio (2003)
Neuro-oncol
5, 228-234
| Abstract »
| PDF »
- Identification of growth hormone receptor in localised neurofibromas of patients with neurofibromatosis type 1.
- K S G Cunha, E P Barboza, and E C Da Fonseca (2003)
J. Clin. Pathol.
56, 758-763
| Abstract »
| Full Text »
| PDF »
- Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region.
- H Kehrer-Sawatzki, S Tinschert, and D E Jenne (2003)
J. Med. Genet.
40, e116-116
| Full Text »
| PDF »
- Pheochromocytoma: The Expanding Genetic Differential Diagnosis.
- J. Bryant, J. Farmer, L. J. Kessler, R. R. Townsend, and K. L. Nathanson (2003)
J Natl Cancer Inst
95, 1196-1204
| Abstract »
| Full Text »
| PDF »
- Ocular Motor Behavior of Children With Neurofibromatosis 1.
- A. G. Lasker, M. B. Denckla, and D. S. Zee (2003)
J Child Neurol
18, 348-355
| Abstract »
| PDF »
- NF1 mutations and clinical spectrum in patients with spinal neurofibromas.
- L Kluwe, M Tatagiba, C Funsterer, and V-F Mautner (2003)
J. Med. Genet.
40, 368-371
| Full Text »
| PDF »
- Leukemic potential of doubly mutant Nf1 and Wv hematopoietic cells.
- D. A. Ingram, M. J. Wenning, K. Shannon, and D. W. Clapp (2003)
Blood
101, 1984-1986
| Abstract »
| Full Text »
| PDF »
- Dynamic regulation of the Ras pathway via proteolysis of the NF1 tumor suppressor.
- K. Cichowski, S. Santiago, M. Jardim, B. W. Johnson, and T. Jacks (2003)
Genes & Dev.
17, 449-454
| Abstract »
| Full Text »
| PDF »
- Independent NF1 mutations in two large families with spinal neurofibromatosis.
- L Messiaen, V Riccardi, J Peltonen, O Maertens, T Callens, S L Karvonen, E-L Leisti, J Koivunen, I Vandenbroucke, K Stephens, et al. (2003)
J. Med. Genet.
40, 122-126
| Full Text »
| PDF »
- Gene-Targeted Deletion of Neurofibromin Enhances the Expression of a Transient Outward K+ Current in Schwann Cells: A Protein Kinase A-Mediated Mechanism.
- Y. Xu, N. Chiamvimonvat, A. E. Vazquez, S. Akunuru, N. Ratner, and E. N. Yamoah (2002)
J. Neurosci.
22, 9194-9202
| Abstract »
| Full Text »
| PDF »
- Review Article : Neurofibromatosis 1: Clinical Manifestations and Diagnostic Criteria.
- J.M. Friedman (2002)
J Child Neurol
17, 548-554
| Abstract »
| PDF »
- Review Article : NF1 Mutations and Molecular Testing.
- S. A. M. Thomson, L. Fishbein, and M. R. Wallace (2002)
J Child Neurol
17, 555-561
| Abstract »
| PDF »
- Review Article : Neurofibromin in the Brain.
- D. H. Gutmann (2002)
J Child Neurol
17, 592-601
| Abstract »
| PDF »
- Review Article : Neurofibromatosis 1: Clinical Review and Exceptions to the Rules.
- H. Young, S. Hyman, and K. North (2002)
J Child Neurol
17, 613-621
| Abstract »
| PDF »
- Astrocyte-Specific Inactivation of the Neurofibromatosis 1 Gene (NF1) Is Insufficient for Astrocytoma Formation.
- M. L. Bajenaru, Y. Zhu, N. M. Hedrick, J. Donahoe, L. F. Parada, and D. H. Gutmann (2002)
Mol. Cell. Biol.
22, 5100-5113
| Abstract »
| Full Text »
| PDF »
- International Consensus Statement on Malignant Peripheral Nerve Sheath Tumors in Neurofibromatosis 1.
- R. E. Ferner and D. H. Gutmann (2002)
Cancer Res.
62, 1573-1577
| Abstract »
| Full Text »
| PDF »
- Heterozygosity for the neurofibromatosis 1 (NF1) tumor suppressor results in abnormalities in cell attachment, spreading and motility in astrocytes.
- D. H. Gutmann, Y. L. Wu, N. M. Hedrick, Y. Zhu, A. Guha, and L. F. Parada (2001)
Hum. Mol. Genet.
10, 3009-3016
| Abstract »
| Full Text »
| PDF »
- Lack of Evidence for an Association Between Neurofibromatosis Type I and Intracranial Aneurysms: Autopsy Study and Review of the Literature.
- J. E. Conway, G. M. Hutchins, and R. J. Tamargo (2001)
Stroke
32, 2481-2485
| Abstract »
| Full Text »
| PDF »
- Solution-Based Scanning for Single-Base Alterations Using a Double-Stranded DNA Binding Dye and Fluorescence-Melting Profiles.
- K. S. J. Elenitoba-Johnson and S. D. Bohling (2001)
Am. J. Pathol.
159, 845-853
| Abstract »
| Full Text »
| PDF »
- Hyperactivation of p21ras and the Hematopoietic-specific Rho GTPase, Rac2, Cooperate to Alter the Proliferation of Neurofibromin-deficient Mast Cells In Vivo and In Vitro.
- D. A. Ingram, K. Hiatt, A. J. King, L. Fisher, R. Shivakumar, C. Derstine, M. J. Wenning, B. Diaz, J. B. Travers, A. Hood, et al. (2001)
J. Exp. Med.
194, 57-70
| Abstract »
| Full Text »
| PDF »
- Malignant Peripheral Nerve Sheath Tumors Associated With Neurofibromatosis Type 1: A Clinicopathologic and Molecular Study of 17 Patients.
- K. Leroy, V. Dumas, N. Martin-Garcia, M.-C. Falzone, M.-C. Voisin, J. Wechsler, J. Revuz, A. Creange, E. Levy, L. Lantieri, et al. (2001)
Arch Dermatol
137, 908-913
| Abstract »
| Full Text »
| PDF »
- The neurofibromatoses: when less is more.
- D. H. Gutmann (2001)
Hum. Mol. Genet.
10, 747-755
| Abstract »
| Full Text »
| PDF »
- Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain.
- Y. Zhu, M. I. Romero, P. Ghosh, Z. Ye, P. Charnay, E. J. Rushing, J. D. Marth, and L. F. Parada (2001)
Genes & Dev.
15, 859-876
| Abstract »
| Full Text »
- Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations.
- E. Serra, T. Rosenbaum, U. Winner, R. Aledo, E. Ars, X. Estivill, H.-G. Lenard, and C. Lazaro (2000)
Hum. Mol. Genet.
9, 3055-3064
| Abstract »
| Full Text »
| PDF »
- Malignancy in Neurofibromatosis Type 1.
- B. R. Korf (2000)
Oncologist
5, 477-485
| Abstract »
| Full Text »
- Noninvasive Evaluation of Arterial Abnormalities in Young Patients with Neurofibromatosis Type 1.
- G. Ratti, G. Di Salvo, A. R. Martiniello, G. Limongelli, M. Grieco, E. Calabrese, C. Grassia, A. Iacono, G. Lama, and M. A. Tedesco (2000)
Angiology
51, 733-741
| Abstract »
| PDF »
- Fine Mapping of Quantitative Trait Loci Using Linkage Disequilibria With Closely Linked Marker Loci.
- T. H. E. Meuwissen and M. E. Goddard (2000)
Genetics
155, 421-430
| Abstract »
| Full Text »
- Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA.
- E. Ars, E. Serra, S. de la Luna, X. Estivill, and C. Lazaro (2000)
Nucleic Acids Res.
28, 1307-1312
| Abstract »
| Full Text »
| PDF »
- Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.
- E. Ars, E. Serra, J. Garcia, H. Kruyer, A. Gaona, C. Lazaro, and X. Estivill (2000)
Hum. Mol. Genet.
9, 237-247
| Abstract »
| Full Text »
| PDF »
- Genetic and Biochemical Evidence that Haploinsufficiency of the Nf1 Tumor Suppressor Gene Modulates Melanocyte and Mast Cell Fates In Vivo.
- D. A. Ingram, F.-C. Yang, J. B. Travers, M. J. Wenning, K. Hiatt, S. New, A. Hood, K. Shannon, D. A. Williams, and D. W. Clapp (2000)
J. Exp. Med.
191, 181-188
| Abstract »
| Full Text »
| PDF »
- Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features.
- F Faravelli, M Upadhyaya, M Osborn, S M Huson, R Hayward, and R Winter (1999)
J. Med. Genet.
36, 893-896
| Abstract »
| Full Text »
| PDF »
- Inhibition of Angiogenesis by Blocking Activation of the Vascular Endothelial Growth Factor Receptor 2 Leads to Decreased Growth of Neurogenic Sarcomas.
- L. Angelov, B. Salhia, L. Roncari, G. McMahon, and A. Guha (1999)
Cancer Res.
59, 5536-5541
| Abstract »
| Full Text »
| PDF »
- Neurological complications of neurofibromatosis type 1 in adulthood.
- A. Creange, J. Zeller, S. Rostaing-Rigattieri, P. Brugieres, J.-D. Degos, J. Revuz, and P. Wolkenstein (1999)
Brain
122, 473-481
| Abstract »
| Full Text »
| PDF »
- A clinical study of type 1 neurofibromatosis in north west England.
- J M McGaughran, D I Harris, D Donnai, D Teare, R MacLeod, R Westerbeek, H Kingston, M Super, R Harris, and D G R Evans (1999)
J. Med. Genet.
36, 197-203
| Abstract »
| Full Text »
- Urinary Bladder Transitional Cell Carcinogenesis Is Associated with Down-Regulation of NF1 Tumor Suppressor Gene in Vivo and in Vitro.
- V. Aaltonen, P. J. Bostrom, K.-O. Soderstrom, O. Hirvonen, J. Tuukkanen, M. Nurmi, M. Laato, and J. Peltonen (1999)
Am. J. Pathol.
154, 755-765
| Abstract »
| Full Text »
| PDF »
- Construction of an ~700-kb Transcript Map Around the Familial Mediterranean Fever Locus on Human Chromosome 16p13.3.
- M. Centola, X. Chen, R. Sood, Z. Deng, I. Aksentijevich, T. Blake, D. O. Ricke, X. Chen, G. Wood, N. Zaks, et al. (1998)
Genome Res.
8, 1172-1191
| Abstract »
| Full Text »
- A Role for Cyclin-Dependent Kinase(s) in the Modulation of Fast Anterograde Axonal Transport: Effects Defined by Olomoucine and the APC Tumor Suppressor Protein.
- N. Ratner, G. S. Bloom, and S. T. Brady (1998)
J. Neurosci.
18, 7717-7726
| Abstract »
| Full Text »
| PDF »
- A role for Pak protein kinases in Schwann cell transformation.
- Y. Tang, S. Marwaha, J. L. Rutkowski, G. I. Tennekoon, P. C. Phillips, and J. Field (1998)
PNAS
95, 5139-5144
| Abstract »
| Full Text »
| PDF »
- Gene Characterization, Promoter Analysis, and Chromosomal Localization of Human Bleomycin Hydrolase.
- A. A. Ferrando, A. M. Pendas, E. Llano, G. Velasco, R. Lidereau, and C. Lopez-Otin (1997)
J. Biol. Chem.
272, 33298-33304
| Abstract »
| Full Text »
| PDF »
- Direct isolation of human transcribed sequences from yeast artificial chromosomes through the application of RNA fingerprinting.
- I. H. Still, P. Vince, and J. K. Cowell (1997)
PNAS
94, 10373-10378
| Abstract »
| Full Text »
| PDF »
- N-terminal Sequences Contained in the Src Homology 2 and 3 Domains of p120 GTPase-activating Protein Are Required for Full Catalytic Activity Toward Ras.
- S. S. Bryant, A. L. Mitchell, F. Collins, W. Miao, M. Marshall, and R. Jove (1996)
J. Biol. Chem.
271, 5195-5199
| Abstract »
| Full Text »
| PDF »
- Long RT-PCR of the entire 8.5-kb NF1 open reading frame and mutation detection on agarose gels..
- J M Martinez, H H Breidenbach, and R Cawthon (1996)
Genome Res.
6, 58-66
| Abstract »
| PDF »
- Amplification of the total coding sequence of the NF1 gene from peripheral blood lymphocyte RNA..
- M H Shen, P S Harper, and M Upadhyaya (1995)
Genome Res.
4, 311-313
| PDF »
- Neurofibromin-deficient fibroblasts fail to form perineurium in vitro.
- T Rosenbaum, Y. Boissy, K Kombrinck, C. Brannan, N. Jenkins, N. Copeland, and N Ratner (1995)
Development
121, 3583-3592
| Abstract »
| PDF »
- Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father.
- C. Lazaro, A. Ravella, A. Gaona, V. Volpini, and X. Estivill (1994)
N. Engl. J. Med.
331, 1403-1407
| Abstract »
| Full Text »
- Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues..
- C I Brannan, A S Perkins, K S Vogel, N Ratner, M L Nordlund, S W Reid, A M Buchberg, N A Jenkins, L F Parada, and N G Copeland (1994)
Genes & Dev.
8, 1019-1029
| Abstract »
| PDF »
- The NF1 Gene in Myelopoiesis and Childhood Myelodysplastic Syndromes.
- G. M. Brodeur (1994)
N. Engl. J. Med.
330, 637-639
| Full Text »
- Identification of the von Hippel-Lindau disease tumor suppressor gene.
- F Latif, K Tory, J Gnarra, M Yao, F. Duh, M. Orcutt, T Stackhouse, I Kuzmin, W Modi, L Geil, et al. (1993)
Science
260, 1317-1320
| Abstract »
| PDF »
- Germ line transmission of a yeast artificial chromosome spanning the murine alpha 1(I) collagen locus.
- W. Strauss, J Dausman, C Beard, C Johnson, J. Lawrence, and R Jaenisch (1993)
Science
259, 1904-1907
| Abstract »
| PDF »
- Proadipocyte cell lines: models of cellular proliferation and differentiation.
- M. Smyth, R. Sparks, and W Wharton (1993)
J. Cell Sci.
106, 1-9
| PDF »
- A comprehensive genetic linkage map of the human genome. NIH/CEPH Collaborative Mapping Group.
- (1992)
Science
258, 67-86
| Abstract »
| PDF »
- Predisposition to renal cell carcinoma due to alteration of a cancer susceptibility gene.
- C Walker, T. Goldsworthy, D. Wolf, and J Everitt (1992)
Science
255, 1693-1695
| Abstract »
| PDF »
- Tumor suppressor genes.
- R. Weinberg (1991)
Science
254, 1138-1146
| Abstract »
| PDF »
- Chromosome aberrations and cancer.
- E Solomon, J Borrow, and A. Goddard (1991)
Science
254, 1153-1160
| Abstract »
| PDF »
- Sequence-tagged site (STS) content mapping of human chromosomes: theoretical considerations and early experiences..
- E D Green and P Green (1991)
Genome Res.
1, 77-90
| Abstract »
| PDF »
- Identification of FAP locus genes from chromosome 5q21.
- K. Kinzler, M. Nilbert, L. Su, B Vogelstein, T. Bryan, D. Levy, K. Smith, A. Preisinger, P Hedge, D McKechnie, et al. (1991)
Science
253, 661-665
| Abstract »
| PDF »
- Regulation of Ras-GAP and the neurofibromatosis-1 gene product by eicosanoids.
- J. Han, F McCormick, and I. Macara (1991)
Science
252, 576-579
| Abstract »
| PDF »
- Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers.
- K. Kinzler, M. Nilbert, B Vogelstein, T. Bryan, D. Levy, K. Smith, A. Preisinger, Hamilton SR, P Hedge, A Markham, et al. (1991)
Science
251, 1366-1370
| Abstract »
| PDF »
- DISCOVERY OF THE GENETIC DEFECT CAUSING NEUROFIBROMATOSIS.
- (1990)
Journal Watch (General)
1990, 2
| Full Text »
|
|