-
1
-
-
48849111029
-
Diagnosis of fanconi anemia by diepoxybutane analysis
-
Dracopoli NC, et al. editors. Hoboken, NJ: John Wiley & Sons, Inc.
-
Auerbach AD. 2003. Diagnosis of Fanconi anemia by Diepoxybutane Analysis. In: Dracopoli NC, et al. editors. Current protocols in human genetics, Hoboken, NJ: John Wiley & Sons, Inc. Supplement 37, pp 8.7.1-8.7.15.
-
(2003)
Current Protocols in Human Genetics
, Issue.SUPPL. 37
-
-
Auerbach, A.D.1
-
2
-
-
0021734131
-
Association of VACTERL and hydrocephalus: A new familial entity
-
Briard ML, le Merrer M, Plauchu H, Dodinval P, Lambotte C, Moraine C, Serville F. 1984. Association of VACTERL and hydrocephalus: A new familial entity. Ann Genet 27:220-223.
-
(1984)
Ann Genet
, vol.27
, pp. 220-223
-
-
Briard, M.L.1
Le Merrer, M.2
Plauchu, H.3
Dodinval, P.4
Lambotte, C.5
Moraine, C.6
Serville, F.7
-
3
-
-
0031012093
-
VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): Mutation in the FAC gene
-
Cox MP, Gibson RA, Morgan N, Brueton LA. 1997. VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): Mutation in the FAC gene. Am J Med Genet 68:86-90.
-
(1997)
Am J Med Genet
, vol.68
, pp. 86-90
-
-
Cox, M.P.1
Gibson, R.A.2
Morgan, N.3
Brueton, L.A.4
-
4
-
-
0942276983
-
DEB test for Fanconi anemia detection in patients with atypical phenotypes
-
Esmer C, Sanchez S, Ramos S, Molina B, Frias S, Carnevale A. 2004. DEB test for Fanconi anemia detection in patients with atypical phenotypes. Am J Med Genet 124A:35-39.
-
(2004)
Am J Med Genet
, vol.124 A
, pp. 35-39
-
-
Esmer, C.1
Sanchez, S.2
Ramos, S.3
Molina, B.4
Frias, S.5
Carnevale, A.6
-
5
-
-
0027967218
-
Radial ray defects, renal ectopia, duodenal atresia and hydrocephalus: The extended spectrum for Fanconi anemia
-
Evans DGR, Rees HC, Spreadborough A, Campbell DJ, Gau GS, Pickering E, Hamilton S, Clayton-Smith J. 1994. Radial ray defects, renal ectopia, duodenal atresia and hydrocephalus: The extended spectrum for Fanconi anemia. Clin Dysmorph 3:200-206.
-
(1994)
Clin Dysmorph
, vol.3
, pp. 200-206
-
-
Evans, D.G.R.1
Rees, H.C.2
Spreadborough, A.3
Campbell, D.J.4
Gau, G.S.5
Pickering, E.6
Hamilton, S.7
Clayton-Smith, J.8
-
6
-
-
0034672154
-
Association of complementation group and mutation type with clinical outcome in fanconi anemia
-
European Fanconi Anemia Research Group
-
Faivre L, Guardiola P, Lewis C, Dokal I, Ebell W, Zatterale A, Altay C, Poole J, Stones D, Kwee ML, van Weel-Sipman M, Havenga C, Morgan N, de Winter J, Digweed M, Savoia A, Pronk J, de Ravel T, Jansen S, Joenje H, Gluckman E, Mathew CG. 2000. Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group. Blood 96:4064-4070.
-
(2000)
Blood
, vol.96
, pp. 4064-4070
-
-
Faivre, L.1
Guardiola, P.2
Lewis, C.3
Dokal, I.4
Ebell, W.5
Zatterale, A.6
Altay, C.7
Poole, J.8
Stones, D.9
Kwee, M.L.10
Van Weel-Sipman, M.11
Havenga, C.12
Morgan, N.13
De Winter, J.14
Digweed, M.15
Savoia, A.16
Pronk, J.17
De Ravel, T.18
Jansen, S.19
Joenje, H.20
Gluckman, E.21
Mathew, C.G.22
more..
-
7
-
-
0027298257
-
The need for more accurate and timely diagnosis in Fanconi anemia: A report from the international Fanconi anemia registry
-
Giampietro PF, Alder-Brecher B, Verlander PC, Pavlakis SG, Davis JG, Auerbach AD. 1993. The need for more accurate and timely diagnosis in Fanconi anemia: A report from the international Fanconi anemia registry. Pediatrics 91:1116-1120.
-
(1993)
Pediatrics
, vol.91
, pp. 1116-1120
-
-
Giampietro, P.F.1
Alder-Brecher, B.2
Verlander, P.C.3
Pavlakis, S.G.4
Davis, J.G.5
Auerbach, A.D.6
-
8
-
-
0031012179
-
Diagnosis of Fanconi anemia in patients without congenital malformations: An International Fanconi Anemia Registry Study
-
Giampietro PF, Verlander PC, Davis JG, Auerbach AD. 1997. Diagnosis of Fanconi anemia in patients without congenital malformations: An International Fanconi Anemia Registry Study. Am J Med Genet 68:58-61.
-
(1997)
Am J Med Genet
, vol.68
, pp. 58-61
-
-
Giampietro, P.F.1
Verlander, P.C.2
Davis, J.G.3
Auerbach, A.D.4
-
9
-
-
0029157355
-
Bone marrow transplantation for Fanconi anemia
-
Gluckman E, Auerbach AD, Horowitz MM, Sobocinski KA, Ash RC, Bortin MM, Butturini A, Camitta BM, Champlin RE, Friedrich W, et al. 1995. Bone marrow transplantation for Fanconi anemia. Blood 86:2856-2862.
-
(1995)
Blood
, vol.86
, pp. 2856-2862
-
-
Gluckman, E.1
Auerbach, A.D.2
Horowitz, M.M.3
Sobocinski, K.A.4
Ash, R.C.5
Bortin, M.M.6
Butturini, A.7
Camitta, B.M.8
Champlin, R.E.9
Friedrich, W.10
-
10
-
-
0037441757
-
A 20-year perspective on the International Fanconi Anemia Registry (IFAR)
-
Kutler DI, Singh B, Satagopan J, Batish SD, Berwick M, Giampietro PF, Hanenberg H, Auerbach AD. 2003. A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood 101:1249-1256.
-
(2003)
Blood
, vol.101
, pp. 1249-1256
-
-
Kutler, D.I.1
Singh, B.2
Satagopan, J.3
Batish, S.D.4
Berwick, M.5
Giampietro, P.F.6
Hanenberg, H.7
Auerbach, A.D.8
-
11
-
-
12144288675
-
Heterogeneity in Fanconi anemia: Evidence for 2 new genetic subtypes
-
Levitus M, Rooimans MA, Steltenpool J, Cool NFC, Oostra AB, Mathew CG, Hoatlin ME, Waisfisz Q, Arwert F, de Winter JP, Joenje H. 2004. Heterogeneity in Fanconi anemia: Evidence for 2 new genetic subtypes. Hematopoiesis 103:2498-2503.
-
(2004)
Hematopoiesis
, vol.103
, pp. 2498-2503
-
-
Levitus, M.1
Rooimans, M.A.2
Steltenpool, J.3
Cool, N.F.C.4
Oostra, A.B.5
Mathew, C.G.6
Hoatlin, M.E.7
Waisfisz, Q.8
Arwert, F.9
De Winter, J.P.10
Joenje, H.11
-
12
-
-
33644483148
-
Fanconi's constitutional anaemia and VATER association
-
Narchi H, Mallouh A. 1996. Fanconi's constitutional anaemia and VATER association. Anals of Saudi Medicine 16:94-95.
-
(1996)
Anals of Saudi Medicine
, vol.16
, pp. 94-95
-
-
Narchi, H.1
Mallouh, A.2
-
13
-
-
0031943896
-
Oesophageal atresia, VACTERL association: Fanconi's anaemia related spectrum of anomalies
-
Perel Y, Butenandt O, Carrere A, Saura R, Fayon M, Lamireau T, Vergnes P. 1998. Oesophageal atresia, VACTERL association: Fanconi's anaemia related spectrum of anomalies. Arch Dis Child 78:375-376.
-
(1998)
Arch Dis Child
, vol.78
, pp. 375-376
-
-
Perel, Y.1
Butenandt, O.2
Carrere, A.3
Saura, R.4
Fayon, M.5
Lamireau, T.6
Vergnes, P.7
-
14
-
-
0026742503
-
VACTERL with hydrocephalus: One end of the Fanconi anemia spectrum of anomalies?
-
Porteous ME, Cross I, Burn J. 1992. VACTERL with hydrocephalus: One end of the Fanconi anemia spectrum of anomalies? Am J Med Genet 43:1032-1034.
-
(1992)
Am J Med Genet
, vol.43
, pp. 1032-1034
-
-
Porteous, M.E.1
Cross, I.2
Burn, J.3
-
15
-
-
0015541929
-
The VATER association. Vertebral defects, anal atresia, T-E fistula with esophageal atresia, radial and renal dysplasia: A spectrum of associated defects
-
Quan L, Smith DW. 1973. The VATER association. Vertebral defects, anal atresia, T-E fistula with esophageal atresia, radial and renal dysplasia: A spectrum of associated defects. J Pediatr 82:104-107.
-
(1973)
J Pediatr
, vol.82
, pp. 104-107
-
-
Quan, L.1
Smith, D.W.2
-
16
-
-
0000635001
-
VACTERL association with hydrocephalus - A new recessive syndrome?
-
Sujansky E, Leonard B. 1983. VACTERL association with hydrocephalus-A new recessive syndrome? Am J Hum Genet 35:119A.
-
(1983)
Am J Hum Genet
, vol.35
-
-
Sujansky, E.1
Leonard, B.2
-
18
-
-
0027462479
-
Possible form of Fanconi pancytopenia as a phenocopy of the VACTERL association
-
Toriello HV, Pearson G, Sommer A. 1993. Possible form of Fanconi pancytopenia as a phenocopy of the VACTERL association. Clin Dysmorphol 2:183-185.
-
(1993)
Clin Dysmorphol
, vol.2
, pp. 183-185
-
-
Toriello, H.V.1
Pearson, G.2
Sommer, A.3
-
19
-
-
0027166367
-
VACTERL with hydrocephalus: Spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance
-
Wang H, Hunter AG, Clifford B, McLaughlin M, Thompson D. 1993. VACTERL with hydrocephalus: Spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance. Am J Med Genet 47:114-117.
-
(1993)
Am J Med Genet
, vol.47
, pp. 114-117
-
-
Wang, H.1
Hunter, A.G.2
Clifford, B.3
McLaughlin, M.4
Thompson, D.5
|