-
1
-
-
0027298257
-
The need for more accurate and timely diagnosis in Fanconi anemia. A report from the International Fanconi Anemia Registry
-
Giampietro PF, Adler-Brecher B, Verlander PC, Pavlakis SG, Davis JG Auerbach AD: The need for more accurate and timely diagnosis in Fanconi anemia. A report from the International Fanconi Anemia Registry. Pediatrics 91:1116, 1993
-
(1993)
Pediatrics
, vol.91
, pp. 1116
-
-
Giampietro, P.F.1
Adler-Brecher, B.2
Verlander, P.C.3
Pavlakis, S.G.4
Davis, J.G.5
Auerbach, A.D.6
-
2
-
-
0028068579
-
Hematologic abnormalities in Fanconi anemia. An International Fanconi Anemia Registry study
-
Butturini A, Gale RP, Verlander PC, Adler-Brecher B, Gillio AP, Auerbach AD: Hematologic abnormalities in Fanconi anemia. An International Fanconi Anemia Registry study. Blood 84:1650, 1994
-
(1994)
Blood
, vol.84
, pp. 1650
-
-
Butturini, A.1
Gale, R.P.2
Verlander, P.C.3
Adler-Brecher, B.4
Gillio, A.P.5
Auerbach, A.D.6
-
3
-
-
0024543636
-
International Fanconi Anemia Registry: Relation of clinical symptoms to diepoxybutane sensitivity
-
Auerbach AD, Rogatko A, Schroeder-Kurth TM:International Fanconi Anemia Registry: Relation of clinical symptoms to diepoxybutane sensitivity. Blood 73:391, 1989
-
(1989)
Blood
, vol.73
, pp. 391
-
-
Auerbach, A.D.1
Rogatko, A.2
Schroeder-Kurth, T.M.3
-
4
-
-
0026878842
-
Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9
-
Strathdee CA, Duncan AMV, Buchwald M: Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. Nature Genet 1:196, 1992
-
(1992)
Nature Genet
, vol.1
, pp. 196
-
-
Strathdee, C.A.1
Duncan, A.M.V.2
Buchwald, M.3
-
5
-
-
0029163523
-
Classification of Fanconi anemia patients by complementation analysis: Evidence for a fifth genetic subtype
-
Joenje H, Lo Ten Foe JR, Oostra AB, van Berkel CGM, Rooimans MA, Schroeder-Kurth TM, Wegner R-D, Gille JJP, Buchwald M, Arwert F: Classification of Fanconi anemia patients by complementation analysis: Evidence for a fifth genetic subtype. Blood 86:2156, 1995
-
(1995)
Blood
, vol.86
, pp. 2156
-
-
Joenje, H.1
Lo Ten Foe, J.R.2
Oostra, A.B.3
Van Berkel, C.G.M.4
Rooimans, M.A.5
Schroeder-Kurth, T.M.6
Wegner, R.-D.7
Gille, J.J.P.8
Buchwald, M.9
Arwert, F.10
-
6
-
-
0026521238
-
Cloning of cDNAs for Fanconi's anaemia by functional complementation
-
Strathdee CA, Gavish H, Shannon WR, Buchwald M: Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature 356:763, 1992
-
(1992)
Nature
, vol.356
, pp. 763
-
-
Strathdee, C.A.1
Gavish, H.2
Shannon, W.R.3
Buchwald, M.4
-
7
-
-
0028231738
-
Mutation analysis of the Fanconi anemia gene FACC
-
Verlander PC, Lin JD, Udono MU, Zhang Q, Gibson RA, Mathew CG, Auerbach AD: Mutation analysis of the Fanconi anemia gene FACC. Am J Hum Genet 54:595, 1994
-
(1994)
Am J Hum Genet
, vol.54
, pp. 595
-
-
Verlander, P.C.1
Lin, J.D.2
Udono, M.U.3
Zhang, Q.4
Gibson, R.A.5
Mathew, C.G.6
Auerbach, A.D.7
-
8
-
-
0027299882
-
A nonsense mutation and exon skipping in the Fanconi anaemia group C gene
-
Gibson RA, Hajianpour A, Murer-Orlando M, Buchwald M, Mathew CG: A nonsense mutation and exon skipping in the Fanconi anaemia group C gene. Hum Molec Genet 2:797, 1993
-
(1993)
Hum Molec Genet
, vol.2
, pp. 797
-
-
Gibson, R.A.1
Hajianpour, A.2
Murer-Orlando, M.3
Buchwald, M.4
Mathew, C.G.5
-
9
-
-
0027295719
-
FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia
-
Murer-Orlando M, Llerena JCJ, Birjandi F, Gibson RA, Mathew CG: FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia. Lancet 342:686, 1993
-
(1993)
Lancet
, vol.342
, pp. 686
-
-
Murer-Orlando, M.1
Llerena, J.C.J.2
Birjandi, F.3
Gibson, R.A.4
Mathew, C.G.5
-
10
-
-
0027288907
-
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews
-
Whitney MA, Saito H, Jakobs PM, Gibson RA, Moses RE, Grompe M: A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. Nature Genet 4:202, 1993
-
(1993)
Nature Genet
, vol.4
, pp. 202
-
-
Whitney, M.A.1
Saito, H.2
Jakobs, P.M.3
Gibson, R.A.4
Moses, R.E.5
Grompe, M.6
-
11
-
-
0028292273
-
The Ashkenazi Jewish Fanconi anemia mutation: Incidence among patients and carrier frequency in the at-risk population
-
Whitney MA, Jakobs P, Kaback M, Moses RE, Grompe M: The Ashkenazi Jewish Fanconi anemia mutation: Incidence among patients and carrier frequency in the at-risk population. Hum Mutat 3:339, 1994
-
(1994)
Hum Mutat
, vol.3
, pp. 339
-
-
Whitney, M.A.1
Jakobs, P.2
Kaback, M.3
Moses, R.E.4
Grompe, M.5
-
12
-
-
0028899613
-
One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews
-
Shpilberg O, Peretz H, Zivelin A, Yatuv R, Chetrit A, Kulka T, Stern C, Weiss E, Seligsohn U: One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews. Blood 85:429, 1995
-
(1995)
Blood
, vol.85
, pp. 429
-
-
Shpilberg, O.1
Peretz, H.2
Zivelin, A.3
Yatuv, R.4
Chetrit, A.5
Kulka, T.6
Stern, C.7
Weiss, E.8
Seligsohn, U.9
-
13
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215, 1988
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
14
-
-
0027491210
-
Contributing software to the Internet: The Amplify program
-
Engels WR: Contributing software to the Internet: the Amplify program. Trends Biochem Sci 18:448, 1993
-
(1993)
Trends Biochem Sci
, vol.18
, pp. 448
-
-
Engels, W.R.1
-
15
-
-
0027407408
-
Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR
-
Gibson RA, Buchwald M, Roberts RG, Mathew CG: Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR. Hum Molec Genet 2:35, 1993
-
(1993)
Hum Molec Genet
, vol.2
, pp. 35
-
-
Gibson, R.A.1
Buchwald, M.2
Roberts, R.G.3
Mathew, C.G.4
-
17
-
-
0003010558
-
A perspective on genetic diseases among the Jewish people
-
Goodman RM, Motulsky AG (eds): New York, NY, Raven
-
Goodman RM: A perspective on genetic diseases among the Jewish people, in Goodman RM, Motulsky AG (eds): Genetic Diseases Among Ashkenazi Jews. New York, NY, Raven, 1979, p 1
-
(1979)
Genetic Diseases among Ashkenazi Jews
, pp. 1
-
-
Goodman, R.M.1
-
19
-
-
84937286235
-
Jewish population in the United States, 1993
-
Philadelphia, PA, The Jewish Publication Society of America
-
Kosmin BA, Scheckner J: Jewish population in the United States, 1993, in: American Jewish Yearbook. Philadelphia, PA, The Jewish Publication Society of America, 1993, p 206
-
(1993)
American Jewish Yearbook
, pp. 206
-
-
Kosmin, B.A.1
Scheckner, J.2
-
20
-
-
0027360434
-
Tay-Sachs disease - Carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993
-
The International TSD Data Collection Network
-
Kaback M, Lim-Stcele J, Dabholkar D, Brown D, Levy N, Zeiger K: Tay-Sachs disease - Carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. JAMA 270:2307, 1993
-
(1993)
JAMA
, vol.270
, pp. 2307
-
-
Kaback, M.1
Lim-Stcele, J.2
Dabholkar, D.3
Brown, D.4
Levy, N.5
Zeiger, K.6
-
21
-
-
0029248868
-
Jewish diseases and origins
-
Motulsky AG: Jewish diseases and origins. Nature Genet 9:99, 1995
-
(1995)
Nature Genet
, vol.9
, pp. 99
-
-
Motulsky, A.G.1
-
22
-
-
0027263071
-
Gaucher disease as a paradigm of current issues regarding single gene mutations of humans
-
Beutler E: Gaucher disease as a paradigm of current issues regarding single gene mutations of humans. Proc Natl Acad Sci USA 90:5384, 1993
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 5384
-
-
Beutler, E.1
-
23
-
-
0027394416
-
Gaucher disease: Gene frequencies in the Ashkenazi Jewish population
-
Beutler E, Nguyen NJ, Henneberger MW, Smolec JM, Mc-Pherson RA, West C, Gelbart T: Gaucher disease: Gene frequencies in the Ashkenazi Jewish population. Am J Hum Genet 52:85, 1995
-
(1995)
Am J Hum Genet
, vol.52
, pp. 85
-
-
Beutler, E.1
Nguyen, N.J.2
Henneberger, M.W.3
Smolec, J.M.4
Mc-Pherson, R.A.5
West, C.6
Gelbart, T.7
-
24
-
-
0002472579
-
Genetic diseases in the Ashkenazi population: Evolutionary considerations
-
Bonné-Tamir B, Adam A (eds): Oxford, UK, Oxford University Press
-
Jorde LB: Genetic diseases in the Ashkenazi population: Evolutionary considerations, in Bonné-Tamir B, Adam A (eds): Genetic Diversity Among Jews. Diseases and Markers at the DNA Level. Oxford, UK, Oxford University Press, 1992, p 305
-
(1992)
Genetic Diversity among Jews. Diseases and Markers at the DNA Level
, pp. 305
-
-
Jorde, L.B.1
-
25
-
-
0000907753
-
Jewish lysosomes
-
Diamond JM: Jewish lysosomes. Nature 368:291, 1994
-
(1994)
Nature
, vol.368
, pp. 291
-
-
Diamond, J.M.1
-
26
-
-
0028108115
-
Linkage disequilibrium between the FES, D 15S127, and BLM loci in Ashkenzai Jews with Bloom syndrome
-
Ellis NA, Roe AM, Kozloski J, Proytcheva M, Falk C, German J: Linkage disequilibrium between the FES, D 15S127, and BLM loci in Ashkenzai Jews with Bloom syndrome. Am J Hum Genet 55:453, 1994
-
(1994)
Am J Hum Genet
, vol.55
, pp. 453
-
-
Ellis, N.A.1
Roe, A.M.2
Kozloski, J.3
Proytcheva, M.4
Falk, C.5
German, J.6
-
27
-
-
0028819262
-
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
-
Risch N, de Leon D, Ozelius L, Kramer P, Almasy L, Singer B, Fahn S, Breakefield X, Bressman S: Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nature Genet 9:152, 1995
-
(1995)
Nature Genet
, vol.9
, pp. 152
-
-
Risch, N.1
De Leon, D.2
Ozelius, L.3
Kramer, P.4
Almasy, L.5
Singer, B.6
Fahn, S.7
Breakefield, X.8
Bressman, S.9
|