-
1
-
-
0029879812
-
Hemophagocytic lymphohistiocytosis: Report of 122 children from the international registry
-
for the FHL Study Group of the Histiocyte Society
-
Aricò, M., et al., for the FHL Study Group of the Histiocyte Society (1996) Hemophagocytic lymphohistiocytosis: report of 122 children from the International Registry. Leukemia, 10, 197-203.
-
(1996)
Leukemia
, vol.10
, pp. 197-203
-
-
Aricò, M.1
-
2
-
-
15844397403
-
Identification of the homolous beige and Chediak-Higashi syndromes gene
-
Barbosa, M.D.F.S, Nguyen, Q.A., Tchernev, V.T., Ashley, A.J., Detter, J.C., Blaydes, S.M., Brandt, S.J., Chotai, D., Hodgman, C., Solari, R.C.E., Lovett, M. & Kingsmore, S.F. (1996) Identification of the homolous beige and Chediak-Higashi syndromes gene. Nature, 382, 262-265.
-
(1996)
Nature
, vol.382
, pp. 262-265
-
-
Barbosa, M.D.F.S.1
Nguyen, Q.A.2
Tchernev, V.T.3
Ashley, A.J.4
Detter, J.C.5
Blaydes, S.M.6
Brandt, S.J.7
Chotai, D.8
Hodgman, C.9
Solari, R.C.E.10
Lovett, M.11
Kingsmore, S.F.12
-
3
-
-
0028931597
-
Set of short tandem repeat polymorphism for efficient linkage screening of the human genome
-
Dubovsky, J., Sheffield, V.C., Duyk, G.M. & Weber, G.L. (1995) Set of short tandem repeat polymorphism for efficient linkage screening of the human genome. Human Molecular Genetics, 4, 449-452.
-
(1995)
Human Molecular Genetics
, vol.4
, pp. 449-452
-
-
Dubovsky, J.1
Sheffield, V.C.2
Duyk, G.M.3
Weber, G.L.4
-
5
-
-
0030767987
-
Contemporary classification of histiocytic disorders
-
for the Reclassification Working Group of the Histiocyte Society
-
Favara, B., et al., for the Reclassification Working Group of the Histiocyte Society (1997) Contemporary classification of histiocytic disorders. Medical Pediatric Oncology, 29, 157-166.
-
(1997)
Medical Pediatric Oncology
, vol.29
, pp. 157-166
-
-
Favara, B.1
-
6
-
-
0021150963
-
Genetic analysis of familial erythrophagocytic lymphohistiocytosis
-
Gencik, A., Signer, E. & Muller, H. (1984) Genetic analysis of familial erythrophagocytic lymphohistiocytosis. European Journal of Pediatrics, 142, 248-252.
-
(1984)
European Journal of Pediatrics
, vol.142
, pp. 248-252
-
-
Gencik, A.1
Signer, E.2
Muller, H.3
-
7
-
-
0030014402
-
Haemophagocytic lymphohistiocytosis associated with constitutional inversion of chromosome 9
-
Hasle, H., Brandt, K., Kerndrup, G., Kjeldsen, E. & Soerensen, A.G. (1996) Haemophagocytic lymphohistiocytosis associated with constitutional inversion of chromosome 9. British Journal of Haematology, 93, 808-809.
-
(1996)
British Journal of Haematology
, vol.93
, pp. 808-809
-
-
Hasle, H.1
Brandt, K.2
Kerndrup, G.3
Kjeldsen, E.4
Soerensen, A.G.5
-
8
-
-
0026065540
-
Diagnostic guidelines for hemophagocytic lymphohistiocytosis
-
Henter, J.-I., Elinder, G., Ost, A., and the FHL Study Group of the Histiocyte Society (1991) Diagnostic guidelines for hemophagocytic lymphohistiocytosis, Semininars in Oncology, 18, 29-33.
-
(1991)
Semininars in Oncology
, vol.18
, pp. 29-33
-
-
Henter, J.-I.1
Elinder, G.2
Ost, A.3
-
9
-
-
0024808930
-
Gene assignment of Zellweger syndrome to 7q11. Report of the second case associated with a pericentric inversion of chromosome 7
-
Naritomi, K., Izumikawa, Y., Ohshiro, S., Yoshida, K., Shimozawa, N., Suzuki, Y., Orii, T. & Hirayama, K. (1989) Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7. Human Genetics, 84, 79-80.
-
(1989)
Human Genetics
, vol.84
, pp. 79-80
-
-
Naritomi, K.1
Izumikawa, Y.2
Ohshiro, S.3
Yoshida, K.4
Shimozawa, N.5
Suzuki, Y.6
Orii, T.7
Hirayama, K.8
-
10
-
-
17344368928
-
Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping
-
Neufeld, E.J., Manel, H., Raz, T., Szargel, R., Yandava, C.N., Sagg, A., Fauré, S., Barrett, T., Buist, N. & Cohen, N. (1997) Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping. American Journal of Human Genetics, 61, 1335-1341.
-
(1997)
American Journal of Human Genetics
, vol.61
, pp. 1335-1341
-
-
Neufeld, E.J.1
Manel, H.2
Raz, T.3
Szargel, R.4
Yandava, C.N.5
Sagg, A.6
Fauré, S.7
Barrett, T.8
Buist, N.9
Cohen, N.10
-
11
-
-
0030914460
-
Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene
-
Pastural, E., Barrat, F.J., Dufoureq-Lagelouse, R., Certai, S., Sanal, O., Jabado, N., Seger, R., Griscelli, C., Fischer, A. & de Saint Basile, G. (1997) Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene. Nature Genetics, 16, 289-292.
-
(1997)
Nature Genetics
, vol.16
, pp. 289-292
-
-
Pastural, E.1
Barrat, F.J.2
Dufoureq-Lagelouse, R.3
Certai, S.4
Sanal, O.5
Jabado, N.6
Seger, R.7
Griscelli, C.8
Fischer, A.9
De Saint Basile, G.10
-
12
-
-
16944365777
-
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
-
Quaderi, N.A., Schweiger, S., Gaudenz, K., Franco, B., Rugarli, E.I., Berger, W., Feldman, G.J., Volta, M., Andolfi, G., Gilgenkrantz, S., Marion, R.W., Hennekam, R.C., Opitz, J.M., Muenke, M., Ropers, H.H. & Ballabio, A. (1997) Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nature Genetics, 17, 285-291.
-
(1997)
Nature Genetics
, vol.17
, pp. 285-291
-
-
Quaderi, N.A.1
Schweiger, S.2
Gaudenz, K.3
Franco, B.4
Rugarli, E.I.5
Berger, W.6
Feldman, G.J.7
Volta, M.8
Andolfi, G.9
Gilgenkrantz, S.10
Marion, R.W.11
Hennekam, R.C.12
Opitz, J.M.13
Muenke, M.14
Ropers, H.H.15
Ballabio, A.16
-
13
-
-
0028260703
-
Avoiding recomputation in linkage analysis
-
Schäffer, A.A., Gupta, S.K., Shriram, K. & Cottingham, R.W. (1994) Avoiding recomputation in linkage analysis. Human Heredity, 44, 225-237.
-
(1994)
Human Heredity
, vol.44
, pp. 225-237
-
-
Schäffer, A.A.1
Gupta, S.K.2
Shriram, K.3
Cottingham, R.W.4
-
14
-
-
0032577548
-
Partial V(D)J recombination activity leads to Omenn syndrome
-
Villa, A., Santagata, S., Bozzi, F., Giliani, S., Frattini, A., Imberti, L., Gatta, L.B., Ochs, H.D., Schwarz, K., Notarangelo, L.D., Vezzoni, P. & Spanopoulou, E. (1998) Partial V(D)J recombination activity leads to Omenn syndrome. Cell, 93, 885-896.
-
(1998)
Cell
, vol.93
, pp. 885-896
-
-
Villa, A.1
Santagata, S.2
Bozzi, F.3
Giliani, S.4
Frattini, A.5
Imberti, L.6
Gatta, L.B.7
Ochs, H.D.8
Schwarz, K.9
Notarangelo, L.D.10
Vezzoni, P.11
Spanopoulou, E.12
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