Search Results - "MacCollin, M"

Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis by Boyd, C, Smith, MJ, Kluwe, L, Balogh, A, MacCollin, M, Plotkin, SR

“…Schwannomatosis is a third major form of neurofibromatosis that has recently been linked to mutations in the SMARCB1 (hSnf5/INI1) tumor suppressor gene. We…”
Get full text

Diagnostic criteria for schwannomatosis by MACCOLLIN, M, CHIOCCA, E. A, SANG, C. N, STEMMER-RACHAMIMOV, A, ROACH, E. S, EVANS, D. G, FRIEDMAN, J. M, HORVIT, R, JARAMILLO, D, LEV, M, MAUTNER, V. F, NIIMURA, M, PLOTKIN, S. R

“…The neurofibromatoses are a diverse group of genetic conditions that share a predisposition to the development of tumors of the nerve sheath. Schwannomatosis…”
Get full text

Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1) by GUTMANN, D. H, RASMUSSEN, S. A, WOLKENSTEIN, P, MACCOLLIN, M. M, GUHA, A, INSKIP, P. D, NORTH, K. N, POYHONEN, M, BIRCH, P. H, FRIEDMAN, J. M

“…Children with neurofibromatosis 1 (NF1) often develop low-grade gliomas, but brain tumors are infrequently encountered in adults with NF1. The authors present…”
Get full text

Germ-line mutations in the neurofibromatosis 2 gene : Correlations with disease severity and retinal abnormalities by PARRY, D. M, MACCOLLIN, M. M, KAISER-KUPFER, M. I, PULASKI, K, NICHOLSON, H. S, BOLESTA, M, ELDRIDGE, R, GUSELLA, J. F

“…Neurofibromatosis 2 (NF2) features bilateral vestibular schwannomas, other benign neural tumors, and cataracts. Patients in some families develop many tumors…”
Get full text

Familial schwannomatosis: Exclusion of the NF2 locus as the germline event by MACCOLLIN, M, WILLETT, C, HEINRICH, B, JACOBY, L. B, ACIERNO, J. S, PERRY, A, LOUIS, D. N

“…Schwannomatosis is a recently recognized disorder, defined as multiple pathologically proven schwannomas without vestibular tumors diagnostic of…”
Get full text

Neurofibromatosis 2 in the Pediatric Population by Nunes, Fabio, MacCollin, Mia

“…Neurofibromatosis 2 is a severe autosomal dominant disorder characterized by the occurrence of bilateral vestibular schwannomas and other benign tumors of the…”
Get full text

Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas by Kluwe, L, Mautner, V, Heinrich, B, Dezube, R, Jacoby, L B, Friedrich, R E, MacCollin, M

“…Neurofibromatosis 2 (NF2) is a severe autosomal dominant disorder that predisposes to multiple tumours of the nervous system. About half of all patients are…”
Get full text

Schwannomatosis : A clinical and pathologic study by MACCOLLIN, M, WOODFIN, W, KRONN, D, SHORT, M. P

“…Schwannomas are benign nerve sheath tumors that most commonly occur singularly in otherwise normal individuals. Multiple schwannomas in a single patient are…”
Get full text

Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype by Patronas, N J, Courcoutsakis, N, Bromley, C M, Katzman, G L, MacCollin, M, Parry, D M

“…To determine the appearance of spinal tumors on magnetic resonance (MR) images of patients with neurofibromatosis 2 (NF2), to assess the biologic behavior of…”
Get more information

Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations by Smith, MJ, Boyd, CD, MacCollin, MM, Plotkin, SR

Get full text

Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas by RUBIO, M.-P, CORREA, K. M, RAMESH, V, MACCOLLIN, M. M, JACOBY, L. B, VON DEIMLING, A, GUSELLA, J. F, LOUIS, D. N

“…Ependymomas and astrocytomas commonly have allelic losses of chromosome 22q, which suggests the presence of a glioma tumor suppressor gene on 22q. A candidate…”
Get full text

Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease by Ruttledge, M H, Andermann, A A, Phelan, C M, Claudio, J O, Han, F Y, Chretien, N, Rangaratnam, S, MacCollin, M, Short, P, Parry, D, Michels, V, Riccardi, V M, Weksberg, R, Kitamura, K, Bradburn, J M, Hall, B D, Propping, P, Rouleau, G A

“…The gene predisposing to neurofibromatosis type 2 (NF2) on human chromosome 22 has revealed a wide variety of different mutations in NF2 individuals. These…”
Get full text

The diagnosis and management of neurofibromatosis 2 in childhood by MacCollin, Mia, Mautner, Victor-Felix

“…Neurofibromatosis 2 (NF2) is an autosomal-dominant condition that causes multiple benign nervous system tumors, especially vestibular schwannoma. Although…”
Get full text

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor by Trofatter, J A, MacCollin, M M, Rutter, J L, Murrell, J R, Duyao, M P, Parry, D M, Eldridge, R, Kley, N, Menon, A G, Pulaski, K

“…Neurofibromatosis 2 (NF2) is a dominantly inherited disorder characterized by the occurrence of bilateral vestibular schwannomas and other central nervous…”
Get more information

Multiple meningiomas in brain and lung due to acquired mutation of the NF2 gene by ECKSTEIN, O, STEMMER-RACHAMIMOV, A, NUNES, F, HOCH, D, OJEMANN, R, MACCOLLIN, M

Get full text

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor by Trofatter, J A, MacCollin, M M, Rutter, J L, Murrell, J R, Duyao, M P, Parry, D M, Eldridge, R, Kley, N, Menon, A G, Pulaski, K

Get more information

Glioblastoma multiforme presenting as bilateral internal auditory canal tumors by Lee, J W, Houtchens, M, Hochberg, F, Price, B, M, Lev, Cunnane, M, Pfannl, R, MacCollin, M

Get full text

Exon scanning for mutations of the NF2 gene in pediatric ependymomas, rhabdoid tumors and meningiomas by Slavc, I, MacCollin, M M, Dunn, M, Jones, S, Sutton, L, Gusella, J F, Biegel, J A

“…Deletions of chromosome 22 have been identified in 3 types of childhood primary brain tumor: meningiomas, rhabdoid or atypical teratoid tumors (ATT) and…”
Get more information

Random-clone strategy for genomic restriction mapping in yeast by Olson, M.V, Dutchik, J.E, Graham, M.Y, Brodeur, G.M, Helms, C, Frank, M, MacCollin, M, Scheinman, R, Frank, T

“…An approach to global restriction mapping is described that is applicable to any complex source DNA. By analyzing a single restriction digest for each member…”
Get full text

Monocular elevator paresis in neurofibromatosis type 2 by EGAN, R. A, THOMPSON, C. R, MACCOLLIN, M, LESSELL, S

“…A retrospective review of 29 consecutive unselected patients referred for neuro-ophthalmic evaluation after the diagnosis of neurofibromatosis type 2 (NF2)…”
Get full text