-
1
-
-
0034531151
-
Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies
-
AARSKOG N.K., and VEDELER C.A. (2000). Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. Hum. Genet. 107, 494-498.
-
(2000)
Hum. Genet.
, vol.107
, pp. 494-498
-
-
Aarskog, N.K.1
Vedeler, C.A.2
-
2
-
-
0034771886
-
A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations
-
ARADHYA, S., WOFFENDIN, H., JAKINS, T., et al. (2001). A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum. Mol. Genet. 10, 2171-2179.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2171-2179
-
-
Aradhya, S.1
Woffendin, H.2
Jakins, T.3
-
3
-
-
0029867499
-
Diagnostic testing for Prader-Willi and Angleman syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee
-
ASHG/ACMG TEST AND TECHNOLOGY TRANSFER COMMITTEE. (1996). Diagnostic testing for Prader-Willi and Angleman syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee. Am. J. Hum. Genet. 58, 1085-1088.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 1085-1088
-
-
-
4
-
-
0032231460
-
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: Implications for imprint-switch models, genetic counseling, and prenatal diagnosis
-
BUITING, K., DITTRICH, B. GROSS, S., et al (1998). Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: Implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am. J. Hum. Genet. 63, 170-180.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 170-180
-
-
Buiting, K.1
Dittrich, B.2
Gross, S.3
-
5
-
-
0037371674
-
Epimutations in Prader-Willi and Angelman syndromes: A molecular study of 136 patients with an imprinting defect
-
BUITING, K., GROSS, S., LICH, C., et al. (2003). Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Am. J. Hum. Genet. 72, 571-577.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 571-577
-
-
Buiting, K.1
Gross, S.2
Lich, C.3
-
6
-
-
0033396274
-
A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp
-
BUITING, K., LICH, C., COTTRELL, S., et al. (1999). A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp. Hum. Genet. 105, 665-666.
-
(1999)
Hum. Genet.
, vol.105
, pp. 665-666
-
-
Buiting, K.1
Lich, C.2
Cottrell, S.3
-
7
-
-
0028939902
-
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting center on human chromosome 15
-
BUITING, K., SAITOH, S., GROSS, S., et al. (1995). Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting center on human chromosome 15. Nat. Genet. 9, 395-400.
-
(1995)
Nat. Genet.
, vol.9
, pp. 395-400
-
-
Buiting, K.1
Saitoh, S.2
Gross, S.3
-
8
-
-
0030762915
-
Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome
-
BURGER, J., BUITING, K., DITTRICH, B., et al. (1997). Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome. Am. J. Hum. Genet. 61, 88-93.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 88-93
-
-
Burger, J.1
Buiting, K.2
Dittrich, B.3
-
9
-
-
0036024851
-
Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments
-
CASILLI, F., DI ROCCO, Z.C., GAD, S., et al. (2002). Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments. Hum. Mutat. 20, 218-226.
-
(2002)
Hum. Mutat.
, vol.20
, pp. 218-226
-
-
Casilli, F.1
Di Rocco, Z.C.2
Gad, S.3
-
10
-
-
0036449356
-
Implementation of SMA carrier testing in genetic laboratories: Comparison of two methods for quantifying the SMN1 gene
-
CUSCO, I., BARCELO, M.J., BAIGET, M., et al. (2002). Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene. Hum. Mutat. 20, 452-459.
-
(2002)
Hum. Mutat.
, vol.20
, pp. 452-459
-
-
Cusco, I.1
Barcelo, M.J.2
Baiget, M.3
-
11
-
-
0001926880
-
Rapid genotyping and quantification on the LightCycler with Hybridization probes
-
DESILVA, D., and REISER, A. (1998). Rapid genotyping and quantification on the LightCycler with Hybridization probes. Biochemica 2, 12-15.
-
(1998)
Biochemica
, vol.2
, pp. 12-15
-
-
Desilva, D.1
Reiser, A.2
-
12
-
-
0035090961
-
Maternal methylation imprints on human chromosome 15 are established during or after fertilization
-
EL-MAARRI, O., SUITING, K., PEERY, E.G., et al. (2001). Maternal methylation imprints on human chromosome 15 are established during or after fertilization. Nat. Genet. 27, 341-344.
-
(2001)
Nat. Genet.
, vol.27
, pp. 341-344
-
-
El-Maarri, O.1
Suiting, K.2
Peery, E.G.3
-
13
-
-
2442713975
-
Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR
-
FAUGERE, V., TUFFERY-GIRAUD, S., HAMEL, C., et al. (2003). Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR. BMC Genet. 4 www.biomedcentral.com/1471-2156/4/1 (Last accessed October 9, 2004).
-
(2003)
BMC Genet.
, vol.4
-
-
Faugere, V.1
Tuffery-Giraud, S.2
Hamel, C.3
-
14
-
-
0036154959
-
Quantitative analyses of SMN1 and SMN2 based on real-time LightCycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
-
FELDKOTTER, M., SCHWARZER, V., WIRTH, R., et al. (2002). Quantitative analyses of SMN1 and SMN2 based on real-time LightCycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am. J. Hum. Genet. 70, 358-368.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 358-368
-
-
Feldkotter, M.1
Schwarzer, V.2
Wirth, R.3
-
15
-
-
0036278859
-
Gene quantification using real-time quantitative PCR: An emerging technology hits the mainstream
-
GINZINGER, DG. (2002). Gene quantification using real-time quantitative PCR: An emerging technology hits the mainstream. Exp. Hematol. 30, 503-512.
-
(2002)
Exp. Hematol.
, vol.30
, pp. 503-512
-
-
Ginzinger, D.G.1
-
16
-
-
0033452321
-
Rapid F508del and F508C assay using fluorescent hybridization probes
-
GUNDRY, C.N., BERNARD, P.S., HERRMANN, M.G., et al. (1999). Rapid F508del and F508C assay using fluorescent hybridization probes. Genet. Test. 3, 365-370.
-
(1999)
Genet. Test.
, vol.3
, pp. 365-370
-
-
Gundry, C.N.1
Bernard, P.S.2
Herrmann, M.G.3
-
17
-
-
17044456392
-
Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR
-
HE, L., CHINNERY, P.F., DURHAM, S.E., BLAKELY, E.L., et al. (2002). Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic Acids Res. 30, e68.
-
(2002)
Nucleic Acids Res.
, vol.30
-
-
He, L.1
Chinnery, P.F.2
Durham, S.E.3
Blakely, E.L.4
-
18
-
-
0035421416
-
The importance of gene dosage studies: Mutational analysis of the parkin gene in early-onset parkinsonism
-
HEDRICH, K., KANN, M., and LANTHALER, A.J. (2001). The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hum. Mol. Genet. 10, 1649-1656.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1649-1656
-
-
Hedrich, K.1
Kann, M.2
Lanthaler, A.J.3
-
19
-
-
0029957181
-
Real time quantitative PCR
-
HEID, C.A., STEVENS, J., LIVAK, K.J., and WILLIAMS, P.M. (1996). Real time quantitative PCR. Genome Res. 6, 986-994.
-
(1996)
Genome Res.
, vol.6
, pp. 986-994
-
-
Heid, C.A.1
Stevens, J.2
Livak, K.J.3
Williams, P.M.4
-
20
-
-
0036216018
-
A simultaneous LightCycler detection assay for five genetic polymorphisms influencing drug sensitivity
-
HIRATSUKA, M., NARAHARA, K., KISHIKAWA, Y., et al. (2002). A simultaneous LightCycler detection assay for five genetic polymorphisms influencing drug sensitivity. Clin. Biochem. 1, 35-40.
-
(2002)
Clin. Biochem.
, vol.1
, pp. 35-40
-
-
Hiratsuka, M.1
Narahara, K.2
Kishikawa, Y.3
-
21
-
-
0030833487
-
Imprinting mutations on human chromosome 15
-
HORSTHEMKE, B., DITTRICH, B., and BUITING, K. (1997). Imprinting mutations on human chromosome 15. Hum. Mutat. 10, 329-337.
-
(1997)
Hum. Mutat.
, vol.10
, pp. 329-337
-
-
Horsthemke, B.1
Dittrich, B.2
Buiting, K.3
-
22
-
-
1842815918
-
Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR
-
JONCOURT, F., NEUHAUS, B., JOSTARNDT-FOEGEN, K. (2004). Rapid identification of Female Carriers of DMD/BMD by Quantitative Real-Time PCR. Hum. Mutat. 23, 385-391.
-
(2004)
Hum. Mutat.
, vol.23
, pp. 385-391
-
-
Joncourt, F.1
Neuhaus, B.2
Jostarndt-Foegen, K.3
-
23
-
-
0035049590
-
Rapid detection of the 22q 11.2 deletion with quantitative real-time PCR
-
KARIYAZONO, H., OHNO, T., IHARA, K., et al. (2001). Rapid detection of the 22q 11.2 deletion with quantitative real-time PCR. Mol. Cell. Probes. 15, 71-73.
-
(2001)
Mol. Cell. Probes
, vol.15
, pp. 71-73
-
-
Kariyazono, H.1
Ohno, T.2
Ihara, K.3
-
24
-
-
0035988627
-
Quantification using real-time PCR technology: Applications and limitations
-
KLEIN, D. (2002). Quantification using real-time PCR technology: Applications and limitations. Trends Mol. Med. 8, 257-260.
-
(2002)
Trends Mol. Med.
, vol.8
, pp. 257-260
-
-
Klein, D.1
-
25
-
-
0031133081
-
Methylation-specific PCR simplifies imprinting analysis
-
KUBOTA, T., DAS, S., CHRISTIAN, S.L., et al. (1997). Methylation-specific PCR simplifies imprinting analysis. Nat. Genet. 16, 16-17.
-
(1997)
Nat. Genet.
, vol.16
, pp. 16-17
-
-
Kubota, T.1
Das, S.2
Christian, S.L.3
-
26
-
-
0031910311
-
Advances in quantitative PCR technology: 5′ nuclease assays
-
LIE. Y.S., PETROPOULOS, C.J. (1998). Advances in quantitative PCR technology: 5′ nuclease assays. Curr. Opin. Biotechnol. 9, 43-48.
-
(1998)
Curr. Opin. Biotechnol
, vol.9
, pp. 43-48
-
-
Lie, Y.S.1
Petropoulos, C.J.2
-
27
-
-
11444268177
-
Fast and flexible single nucleotide polymorphism (SNP) detection with the LightCycler system
-
LOHMANN, S., LEHMAN, L. (2000). Fast and flexible single nucleotide polymorphism (SNP) detection with the LightCycler system. Biochemica 4, 23-28.
-
(2000)
Biochemica
, vol.4
, pp. 23-28
-
-
Lohmann, S.1
Lehman, L.2
-
28
-
-
0038491502
-
A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR
-
LORENTZOS, P., KAISER, T., KENNERSON, M.L., et al. (2003). A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR. Genet. Test. 7, 135-138.
-
(2003)
Genet. Test.
, vol.7
, pp. 135-138
-
-
Lorentzos, P.1
Kaiser, T.2
Kennerson, M.L.3
-
29
-
-
0032858222
-
Rapid genotyping of hemochromatosis gene mutations on the LightCycler with fluorescent hybridization probes
-
MANGASSER-STEPHAN, K., TAG, C., REISER, A., et al. (1999). Rapid genotyping of hemochromatosis gene mutations on the LightCycler with fluorescent hybridization probes. Clin. Chem. 45, 1875-1878.
-
(1999)
Clin. Chem.
, vol.45
, pp. 1875-1878
-
-
Mangasser-Stephan, K.1
Tag, C.2
Reiser, A.3
-
30
-
-
0033361938
-
High frequency of large intragenic deletions in the Fanconi anemia group A gene
-
MORGAN, N.V., TIPPING, A.J., JOENJE, H., et al. (1999). High frequency of large intragenic deletions in the Fanconi anemia group A gene. Am. J. Hum. Genet. 65, 1330-1341.
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 1330-1341
-
-
Morgan, N.V.1
Tipping, A.J.2
Joenje, H.3
-
31
-
-
0035777024
-
Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes
-
NICHOLLS, R.D., and KNEPPER, J.L. (2001). Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Annu. Rev. Genomics Hum. Genet. 2, 153-175.
-
(2001)
Annu. Rev. Genomics Hum. Genet.
, vol.2
, pp. 153-175
-
-
Nicholls, R.D.1
Knepper, J.L.2
-
32
-
-
0036897935
-
Clinical virology in real time
-
NIESTERS. H.G. (2002). Clinical virology in real time. J. Clin. Virol. 25, 3-12.
-
(2002)
J. Clin. Virol.
, vol.25
, pp. 3-12
-
-
Niesters, H.G.1
-
33
-
-
0033073395
-
Imprinting-mutation mechanisms in Prader-Willi syndrome
-
OHTA, T., GRAY, T.A., ROGAN, P.K., et al. (1999). Imprinting-mutation mechanisms in Prader-Willi syndrome. Am. J. Hum. Genet. 64, 397-413.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 397-413
-
-
Ohta, T.1
Gray, T.A.2
Rogan, P.K.3
-
34
-
-
16944363592
-
BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients
-
PETRIJ-BOSCH, A., PEELEN, T., VAN VLIET, M., et al. (1997). BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat. Genet. 17, 341-345.
-
(1997)
Nat. Genet.
, vol.17
, pp. 341-345
-
-
Petrij-Bosch, A.1
Peelen, T.2
Van Vliet, M.3
-
35
-
-
0036953710
-
X-linked recessive Menkes disease: Identification of partial gene deletions in affected males
-
POULSEN, L., HORN, N., HEILSTRUP, H., et al. (2002a). X-linked recessive Menkes disease: Identification of partial gene deletions in affected males. Clin. Genet. 62, 449-457.
-
(2002)
Clin. Genet.
, vol.62
, pp. 449-457
-
-
Poulsen, L.1
Horn, N.2
Heilstrup, H.3
-
36
-
-
0036948854
-
X-linked recessive Menkes disease: Carrier detection in the case of a partial gene deletion
-
POULSEN, L., HORN, N., and MOLLER, L.B. (2002b). X-linked recessive Menkes disease: Carrier detection in the case of a partial gene deletion. Clin. Genet. 62, 440-448.
-
(2002)
Clin. Genet.
, vol.62
, pp. 440-448
-
-
Poulsen, L.1
Horn, N.2
Moller, L.B.3
-
37
-
-
0002436838
-
Quantitative PCR by continuous fluorescence monitoring of a double strand DA specific binding dye
-
RASSMUSSEN, R.P., and MORRISON, T.B. (1998). Quantitative PCR by continuous fluorescence monitoring of a double strand DA specific binding dye. Biochemica. 1, 8-11.
-
(1998)
Biochemica
, vol.1
, pp. 8-11
-
-
Rassmussen, R.P.1
Morrison, T.B.2
-
38
-
-
0033775696
-
Rapid real-time fluorescent PCR gene dosage test for the diagnosis of DNA duplications and deletions
-
RUIZ-PONTE, C., LOIDI, L., VEGA, A., et al. (2000). Rapid real-time fluorescent PCR gene dosage test for the diagnosis of DNA duplications and deletions. Clin. Chem. 46, 1574-1582.
-
(2000)
Clin. Chem.
, vol.46
, pp. 1574-1582
-
-
Ruiz-Ponte, C.1
Loidi, L.2
Vega, A.3
-
39
-
-
0031055875
-
Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation
-
SAITOH, S., BUITING, K., CASSIDY, S.B. et al. (1997). Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. Am. J. Med. Genet. 68, 195-206.
-
(1997)
Am. J. Med. Genet.
, vol.68
, pp. 195-206
-
-
Saitoh, S.1
Buiting, K.2
Cassidy, S.B.3
-
40
-
-
16044365355
-
Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations
-
SAITOH, S., BUITING, K., ROGAN, P.K., et al. (1996). Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations. Proc. Natl. Acad. Sci. U.S.A. 93, 7811-7815.
-
(1996)
Proc. Natl. Acad. Sci. U.S.A.
, vol.93
, pp. 7811-7815
-
-
Saitoh, S.1
Buiting, K.2
Rogan, P.K.3
-
41
-
-
0042905824
-
Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: Implications for routine diagnosis of Rett syndrome
-
SCHOLLEN, E., SMEETS, E., DEFLEM, E., et al. (2003). Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: Implications for routine diagnosis of Rett syndrome. Hum. Mutat. 22, 116-120.
-
(2003)
Hum. Mutat.
, vol.22
, pp. 116-120
-
-
Schollen, E.1
Smeets, E.2
Deflem, E.3
-
42
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
SCHOUTEN, J.P., MCELGUNN, C.J., WAAIJER, R., et al. (2002). Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 30, e57.
-
(2002)
Nucleic Acids Res.
, vol.30
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
-
43
-
-
0037299356
-
A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions
-
THIEL, C.T., KRAUS, C., RAUCH, A., et al. (2003). A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions. Eur. J. Hum. Genet. 11, 170-178.
-
(2003)
Eur. J. Hum. Genet.
, vol.11
, pp. 170-178
-
-
Thiel, C.T.1
Kraus, C.2
Rauch, A.3
-
44
-
-
0031795020
-
MSH2 genomic deletions are a frequent cause of HNPCC
-
WIJNEN, J., VAN DER KLIFT, H., VASEN, H., et al. (1998). MSH2 genomic deletions are a frequent cause of HNPCC. Nat. Genet. 20, 326-328.
-
(1998)
Nat. Genet.
, vol.20
, pp. 326-328
-
-
Wijnen, J.1
Van Der Klift, H.2
Vasen, H.3
-
45
-
-
0031022694
-
Continuous fluorescence monitoring of rapid cycle DNA amplification
-
WITTWER, C.T., and HERRMANN, M.G., MOSS, A.A., et al. (1997). Continuous fluorescence monitoring of rapid cycle DNA amplification. Biotechniques 22, 130-131, 134-138.
-
(1997)
Biotechniques
, vol.22
, pp. 130-131
-
-
Wittwer, C.T.1
Herrmann, M.G.2
Moss, A.A.3
|