Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses (1998)
Wuyts, Wim; U0031948, Van Hul, W, De Boulle, K, Hendrickx, J, Bakker, E, Vanhoenacker, F, ...
Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant bone disorder characterized by the presence of multiple benign cartilage-capped tumors (exostoses). Besides suffering...
Matsushita, Mark, Raskind, W. H., Fink, John K., Bird, Thomas D., Litt, Michael, Lipe, Hillary, ...
Paroxysmal dystonic choreoathetosis (PDC) is a rare neurological disorder characterized by episodes of involuntary movement, involving the extremities and face, which may occur spontaneously or be...
Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11 (1995)
Ramlakhan, S, Van Hul, W, Hecht, J T, Van Den Ouweland, A M, Raskind, W H, ...
Hereditary multiple exostoses (EXT) is an autosomal dominant skeletal disorder characterized by the formation of multiple exostoses on the long bones. EXT is genetically heterogeneous, with at least...
Boynton, R F, Blount, P L, Yin, J, Brown, V L, Huang, Y, Tong, Y, ...
The tumor suppressor gene APC was recently identified, and the cDNA was cloned from chromosome 5q21. Point mutations affecting APC are seen in the hereditary syndrome familial adenomatous polyposis,...
Pui, C H, Raskind, W H, Kitchingman, G R, Raimondi, S C, Behm, F G, Murphy, S B, ...
Acute lymphoblastic leukemia (ALL) is generally regarded as a clonal disease in which a single abnormal progenitor cell gives rise to neoplastic progeny. Five of 463 cases of childhood ALL with...
Pancytopenia as a clonal disorder of a multipotent hematopoietic stem cell.
Abkowitz, J L, Fialkow, P J, Niebrugge, D J, Raskind, W H, Adamson, J W
Hematopoiesis was investigated in a 14-yr-old girl who had a 2-yr history of stable asymptomatic pancytopenia and who was also heterozygous at the structural locus for glucose-6-phosphate...
Evidence for the involvement of B lymphoid cells in polycythemia vera and essential thrombocythemia.
Raskind, W H, Jacobson, R, Murphy, S, Adamson, J W, Fialkow, P J
Previous studies with the X-chromosome-linked glucose-6-phosphate dehydrogenase (G6PD) as a marker of cellular mosaicism demonstrated that polycythemia vera (PV) and essential thrombocythemia (ET)...
Horwitz, M, Benson, K F, Li, F Q, Wolff, J, Leppert, M F, Hobson, L, ...
The identification of genes responsible for the rare cases of familial leukemia may afford insight into the mechanism underlying the more common sporadic occurrences. Here we test a single family...
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.
Wuyts, W, Van Hul, W, De Boulle, K, Hendrickx, J, Bakker, E, Vanhoenacker, F, ...
Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant bone disorder characterized by the presence of multiple benign cartilage-capped tumors (exostoses). Besides suffering...
Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency.
Jørgensen, A L, Philip, J, Raskind, W H, Matsushita, M, Christensen, B, Dreyer, V, ...
Two female identical twins who were clinically normal were obligatory heterozygotes for X-linked deuteranomaly associated with a green-red fusion gene derived from their deuteranomalous father. On...
X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13.
Raskind, W H, Wijsman, E, Pagon, R A, Cox, T C, Bawden, M J, May, B K, ...
Molecular linkage analysis was performed on a kindred with X-linked sideroblastic anemia and ataxia. Two-point analysis with a DNA probe for phosphoglycerate kinase (PGK1), which maps to Xq13,...
Raskind, W H, Williams, C A, Hudson, L D, Bird, T D
Pelizaeus-Merzbacher disease (PMD) is an X-linked neurologic disorder characterized by dysmyelination in the central nervous system. Proteolipid protein (PLP), a major structural protein of myelin,...
Boynton, R F, Blount, P L, Yin, J, Brown, V L, Huang, Y, Tong, Y, ...
The tumor suppressor gene APC was recently identified, and the cDNA was cloned from chromosome 5q21. Point mutations affecting APC are seen in the hereditary syndrome familial adenomatous polyposis,...
Pui, C H, Raskind, W H, Kitchingman, G R, Raimondi, S C, Behm, F G, Murphy, S B, ...
Acute lymphoblastic leukemia (ALL) is generally regarded as a clonal disease in which a single abnormal progenitor cell gives rise to neoplastic progeny. Five of 463 cases of childhood ALL with...
Pancytopenia as a clonal disorder of a multipotent hematopoietic stem cell.
Abkowitz, J L, Fialkow, P J, Niebrugge, D J, Raskind, W H, Adamson, J W
Hematopoiesis was investigated in a 14-yr-old girl who had a 2-yr history of stable asymptomatic pancytopenia and who was also heterozygous at the structural locus for glucose-6-phosphate...
Evidence for the involvement of B lymphoid cells in polycythemia vera and essential thrombocythemia.
Raskind, W H, Jacobson, R, Murphy, S, Adamson, J W, Fialkow, P J
Previous studies with the X-chromosome-linked glucose-6-phosphate dehydrogenase (G6PD) as a marker of cellular mosaicism demonstrated that polycythemia vera (PV) and essential thrombocythemia (ET)...
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.
Wuyts, W, Van Hul, W, De Boulle, K, Hendrickx, J, Bakker, E, Vanhoenacker, F, ...
Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant bone disorder characterized by the presence of multiple benign cartilage-capped tumors (exostoses). Besides suffering...
Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency.
Jørgensen, A L, Philip, J, Raskind, W H, Matsushita, M, Christensen, B, Dreyer, V, ...
Two female identical twins who were clinically normal were obligatory heterozygotes for X-linked deuteranomaly associated with a green-red fusion gene derived from their deuteranomalous father. On...
X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13.
Raskind, W H, Wijsman, E, Pagon, R A, Cox, T C, Bawden, M J, May, B K, ...
Molecular linkage analysis was performed on a kindred with X-linked sideroblastic anemia and ataxia. Two-point analysis with a DNA probe for phosphoglycerate kinase (PGK1), which maps to Xq13,...
Raskind, W H, Williams, C A, Hudson, L D, Bird, T D
Pelizaeus-Merzbacher disease (PMD) is an X-linked neurologic disorder characterized by dysmyelination in the central nervous system. Proteolipid protein (PLP), a major structural protein of myelin,...
Horwitz, M, Benson, K F, Li, F Q, Wolff, J, Leppert, M F, Hobson, L, ...
The identification of genes responsible for the rare cases of familial leukemia may afford insight into the mechanism underlying the more common sporadic occurrences. Here we test a single family...
Raskind, W H, Conrad, E U, Chansky, H, Matsushita, M
Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant condition characterized by growth of multiple benign cartilage-capped tumors. EXT greatly increases the relative risk to...