-
1
-
-
0029015848
-
Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: Evaluation of 235 patients
-
Lowery MC, Morris CA, Ewart A, Brothman LJ, Zhu XL, Leonard CO, Carey JC, Keating M, Brothman AR: Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. Am J Hum Genet 1995, 57:49-53.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 49-53
-
-
Lowery, M.C.1
Morris, C.A.2
Ewart, A.3
Brothman, L.J.4
Zhu, X.L.5
Leonard, C.O.6
Carey, J.C.7
Keating, M.8
Brothman, A.R.9
-
2
-
-
0029051052
-
Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome
-
Borg I, Delhanty JDA, Baraitser M: Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome. J Med Genet 1995, 32:692-696.
-
(1995)
J Med Genet
, vol.32
, pp. 692-696
-
-
Borg, I.1
Delhanty, J.D.A.2
Baraitser, M.3
-
3
-
-
0029033626
-
Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome
-
Morrow B, Goldberg R, Carlson C, Das Gupta R, Sirotkin H, Collins J, Dunham I, O'Donnell H, Scambler P, Shprintzen R, Kucherlapati R: Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome. Am J Hum Genet 1995, 56:1391-1403.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1391-1403
-
-
Morrow, B.1
Goldberg, R.2
Carlson, C.3
Das Gupta, R.4
Sirotkin, H.5
Collins, J.6
Dunham, I.7
O'Donnell, H.8
Scambler, P.9
Shprintzen, R.10
Kucherlapati, R.11
-
4
-
-
0028861863
-
Angelman syndrome: Validation of molecular cytogenetic analysis of chromosome 15q11-q13 for deletion detection
-
White L, Knoll JHM: Angelman syndrome: validation of molecular cytogenetic analysis of chromosome 15q11-q13 for deletion detection. Am J Med Genet 1995, 56:101-105.
-
(1995)
Am J Med Genet
, vol.56
, pp. 101-105
-
-
White, L.1
Knoll, J.H.M.2
-
5
-
-
0028064274
-
Molecular and clinical study of 61 Angelman syndrome patients
-
Saitoh S, Harada N, Jinno Y, Hashimoto K, Imaizumi K, Kuroki Y, Fukushima Y, Sugimoto T, Renedo M, Wagstaff J et al.: Molecular and clinical study of 61 Angelman syndrome patients. Am J Med Genet 1994, 52:158-163.
-
(1994)
Am J Med Genet
, vol.52
, pp. 158-163
-
-
Saitoh, S.1
Harada, N.2
Jinno, Y.3
Hashimoto, K.4
Imaizumi, K.5
Kuroki, Y.6
Fukushima, Y.7
Sugimoto, T.8
Renedo, M.9
Wagstaff, J.10
-
6
-
-
0029027808
-
DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63)
-
van den Ouweland AMW, van der Est MN, Wesby-van Swaay E, Tijmensen TSLN, Los FJ, van Hemel JO, Hennekam RCM, Meijers-Heijboer HJ, Niermeijer MF, Halley DJJ: DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63). Hum Genet 1995, 95:562-567.
-
(1995)
Hum Genet
, vol.95
, pp. 562-567
-
-
Van Den Ouweland, A.M.W.1
Van Der Est, M.N.2
Wesby-van Swaay, E.3
Tijmensen, T.S.L.N.4
Los, F.J.5
Van Hemel, J.O.6
Hennekam, R.C.M.7
Meijers-Heijboer, H.J.8
Niermeijer, M.F.9
Halley, D.J.J.10
-
8
-
-
0028343218
-
Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications
-
Buiting K, Dittrich B, Robinson WP, Guitart M, Abeliovich D, Lerer I, Horsthemke B: Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications. Hum Mol Genet 1994, 3:893-895.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 893-895
-
-
Buiting, K.1
Dittrich, B.2
Robinson, W.P.3
Guitart, M.4
Abeliovich, D.5
Lerer, I.6
Horsthemke, B.7
-
9
-
-
0029038062
-
Uniparental disomy in congenital disorders: A prospective study
-
Lindor NM, Karnes PS, Michels W, Dewald GW, Goerss J, Jalal S, Jenkins RB, Vockley G, Thibodeau SN: Uniparental disomy in congenital disorders: a prospective study. Am J Med Genet 1995, 58:143-146.
-
(1995)
Am J Med Genet
, vol.58
, pp. 143-146
-
-
Lindor, N.M.1
Karnes, P.S.2
Michels, W.3
Dewald, G.W.4
Goerss, J.5
Jalal, S.6
Jenkins, R.B.7
Vockley, G.8
Thibodeau, S.N.9
-
10
-
-
0029162269
-
Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis
-
Ledbetter DH, Engel E: Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 1995, 4:1757-1764.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1757-1764
-
-
Ledbetter, D.H.1
Engel, E.2
-
11
-
-
0028296373
-
Dystrophin and DNA diagnosis in a large pediatric muscle clinic
-
Richards S, Iannaccone ST: Dystrophin and DNA diagnosis in a large pediatric muscle clinic. J Child Neural 1994, 9:162-166.
-
(1994)
J Child Neural
, vol.9
, pp. 162-166
-
-
Richards, S.1
Iannaccone, S.T.2
-
12
-
-
0028090149
-
Prenatal diagnosis of Duchenne muscular dystrophy by polymerase chain reaction analysis
-
Katayama S, Takeshita N, Yano T, Katagiri Y, Shirosita Y, Kubo H, Hirakawa S, Ubagai T: Prenatal diagnosis of Duchenne muscular dystrophy by polymerase chain reaction analysis. Fetal Diagn Ther 1994, 9:379-384.
-
(1994)
Fetal Diagn Ther
, vol.9
, pp. 379-384
-
-
Katayama, S.1
Takeshita, N.2
Yano, T.3
Katagiri, Y.4
Shirosita, Y.5
Kubo, H.6
Hirakawa, S.7
Ubagai, T.8
-
13
-
-
0028309541
-
Rapid direct diagnosis of deletions carriers of Duchenne and Becker muscular dystrophies
-
Fassati A, Tedeschi S, Bordono A, Amboni P, Curcio C, Bresolin N, Scarlato G: Rapid direct diagnosis of deletions carriers of Duchenne and Becker muscular dystrophies. Lancet 1994, 344:302-303.
-
(1994)
Lancet
, vol.344
, pp. 302-303
-
-
Fassati, A.1
Tedeschi, S.2
Bordono, A.3
Amboni, P.4
Curcio, C.5
Bresolin, N.6
Scarlato, G.7
-
14
-
-
0028025477
-
Experience with 500 prenatal diagnoses of sickle cell disease: The effect of gestational age on affected pregnancy outcome
-
Wang X, Seaman C, Paik M, Chen T, Bank A, Piomelli S: Experience with 500 prenatal diagnoses of sickle cell disease: the effect of gestational age on affected pregnancy outcome. Prenat Diagn 1994, 14:851-857.
-
(1994)
Prenat Diagn
, vol.14
, pp. 851-857
-
-
Wang, X.1
Seaman, C.2
Paik, M.3
Chen, T.4
Bank, A.5
Piomelli, S.6
-
15
-
-
0029002475
-
Distribution of 13 truncating mutations in the neurofibromatosis 1 gene
-
Heim RA, Kam-Morgan LNW, Binnie CG, Corns DD, Cayouette MC, Farber RA, Aylsworth AS, Silverman LM, Luce MC: Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. Hum Mol Genet 1995, 4:975-981.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 975-981
-
-
Heim, R.A.1
Kam-Morgan, L.N.W.2
Binnie, C.G.3
Corns, D.D.4
Cayouette, M.C.5
Farber, R.A.6
Aylsworth, A.S.7
Silverman, L.M.8
Luce, M.C.9
-
16
-
-
0029020724
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The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test
-
Gardner RJ, Bobrow M, Roberts RG: The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test. Am J Hum Genet 1995, 57:311-320.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 311-320
-
-
Gardner, R.J.1
Bobrow, M.2
Roberts, R.G.3
-
17
-
-
0029083814
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The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals
-
Struewing JP, Abeliovich D, Peretz T, Avishai N, Kaback MM, Collins FS, Brody LC: The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nature Genet 1995, 11:198-200.
-
(1995)
Nature Genet
, vol.11
, pp. 198-200
-
-
Struewing, J.P.1
Abeliovich, D.2
Peretz, T.3
Avishai, N.4
Kaback, M.M.5
Collins, F.S.6
Brody, L.C.7
-
18
-
-
0028141919
-
A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StBI2.3: The first 2,253 cases
-
Rousseau F, Heitz D, Tarleton J, MacPherson J, Malmgren H, Dahl N, Barnicoat A, Mathew C, Mornet E, Tejada I et al.: A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StBI2.3: the first 2,253 cases. Am J Hum Genet 1994, 55:225-237.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 225-237
-
-
Rousseau, F.1
Heitz, D.2
Tarleton, J.3
MacPherson, J.4
Malmgren, H.5
Dahl, N.6
Barnicoat, A.7
Mathew, C.8
Mornet, E.9
Tejada, I.10
-
19
-
-
0028935163
-
Amniocentesis before 15 weeks' gestation: Technical aspects and obstetric risks
-
Rousseau O, Boulot P, Lefort G, Nagy P, Bachelard B, Bonifacj C, Hedon B, Laffargue F, Viala JL: Amniocentesis before 15 weeks' gestation: technical aspects and obstetric risks. Eur J Obstet Gynecol Reprod Biol 1995, 58:127-130.
-
(1995)
Eur J Obstet Gynecol Reprod Biol
, vol.58
, pp. 127-130
-
-
Rousseau, O.1
Boulot, P.2
Lefort, G.3
Nagy, P.4
Bachelard, B.5
Bonifacj, C.6
Hedon, B.7
Laffargue, F.8
Viala, J.L.9
-
20
-
-
0028003895
-
The use of polymerase chain reaction to determine fetal RhD status
-
Rossiter JP, Blakemore KJ, Kickler TS, Kasch LM, Khouzami N, Pressman EK, Sciscione AC, Kazazian HH Jr: The use of polymerase chain reaction to determine fetal RhD status. Am J Obstet Gynecol 1994, 171:1047-1051.
-
(1994)
Am J Obstet Gynecol
, vol.171
, pp. 1047-1051
-
-
Rossiter, J.P.1
Blakemore, K.J.2
Kickler, T.S.3
Kasch, L.M.4
Khouzami, N.5
Pressman, E.K.6
Sciscione, A.C.7
Kazazian Jr., H.H.8
-
21
-
-
0027947682
-
Antenatal screening for cystic fibrosis: A trial of the couple model
-
Livingstone J, Axton RA, Gilfillan A, Mennie M, Compton M, Liston WA, Calder AA, Gordon AJ, Brock DJH: Antenatal screening for cystic fibrosis: a trial of the couple model. BMJ 1994, 308:1459-1462.
-
(1994)
BMJ
, vol.308
, pp. 1459-1462
-
-
Livingstone, J.1
Axton, R.A.2
Gilfillan, A.3
Mennie, M.4
Compton, M.5
Liston, W.A.6
Calder, A.A.7
Gordon, A.J.8
Brock, D.J.H.9
-
22
-
-
0028836712
-
Antenatal screening for carriers of cystic fibrosis: Randomised trial of stepwise v couple screening
-
Miedzybrodzka ZH, Hall MH, Mollison J, Templeton A, Russell IT, Dean JCS, Kelly KF, Marteau TM, Haites NE: Antenatal screening for carriers of cystic fibrosis: randomised trial of stepwise v couple screening. BMJ 1995, 310:353-357.
-
(1995)
BMJ
, vol.310
, pp. 353-357
-
-
Miedzybrodzka, Z.H.1
Hall, M.H.2
Mollison, J.3
Templeton, A.4
Russell, I.T.5
Dean, J.C.S.6
Kelly, K.F.7
Marteau, T.M.8
Haites, N.E.9
-
23
-
-
0027995652
-
Active cascade testing for carriers of cystic fibrosis gene
-
Super M, Schwarz MJ, Malone G, Roberts T, Haworth A, Dermody G: Active cascade testing for carriers of cystic fibrosis gene. BMJ 1994, 308:1462-1467.
-
(1994)
BMJ
, vol.308
, pp. 1462-1467
-
-
Super, M.1
Schwarz, M.J.2
Malone, G.3
Roberts, T.4
Haworth, A.5
Dermody, G.6
-
24
-
-
0028023974
-
Proceed with care: Direct predictive testing for Huntington disease
-
Benjamin CM, Adam S, Wiggins S, Theilmann JL, Copley TT, Bloch M, Squitieri F, McKellin W, Cox S, Brown SA, et al.: Proceed with care: direct predictive testing for Huntington disease. Am J Hum Genet 1994, 55:606-617.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 606-617
-
-
Benjamin, C.M.1
Adam, S.2
Wiggins, S.3
Theilmann, J.L.4
Copley, T.T.5
Bloch, M.6
Squitieri, F.7
McKellin, W.8
Cox, S.9
Brown, S.A.10
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