-
1
-
-
0028657033
-
Non-isotopic in situ hybridization
-
Adinolfi, M. and Crolla, J. (1994). Non-isotopic in situ hybridization. Adv. Hum. Genet. 22: 187-256.
-
(1994)
Adv. Hum. Genet.
, vol.22
, pp. 187-256
-
-
Adinolfi, M.1
Crolla, J.2
-
2
-
-
0026167023
-
Contiguous deletion syndromes
-
Ballabio, A. (1991). Contiguous deletion syndromes. Curr. Opin. Genet. Devel. 1: 25-29.
-
(1991)
Curr. Opin. Genet. Devel.
, vol.1
, pp. 25-29
-
-
Ballabio, A.1
-
3
-
-
0004062117
-
Multiplex PCR for identifying dystrophin gene deletions
-
Dracopoli, N.C., ed.. John Wiley & Sons, New York
-
Beggs, A.H. (1994). Multiplex PCR for identifying dystrophin gene deletions. In: Current Protocols in Human Genetics (Dracopoli, N.C., ed.). John Wiley & Sons, New York, pp. 9.3.1-9.3.19.
-
(1994)
Current Protocols in Human Genetics
-
-
Beggs, A.H.1
-
4
-
-
0031052948
-
Microsatellite DNA markers detect 95% of chromosome 22q11 deletions
-
Bonnet, D., Cormier-Daire, V., Kachancr, J., Szezepanski, I., Souillard, P., Sidi, D., Munnich, A. and Lyonnet, S. (1997). Microsatellite DNA markers detect 95% of chromosome 22q11 deletions. Am. J. Med.Genet. 68: 182-184.
-
(1997)
Am. J. Med.Genet.
, vol.68
, pp. 182-184
-
-
Bonnet, D.1
Cormier-Daire, V.2
Kachancr, J.3
Szezepanski, I.4
Souillard, P.5
Sidi, D.6
Munnich, A.7
Lyonnet, S.8
-
5
-
-
0015810855
-
Evaluation des erreurs chromosomiques au moment de la conception
-
Boué, A. and Boué, J. (1973). Evaluation des erreurs chromosomiques au moment de la conception. Biomedicine 18: 372-377.
-
(1973)
Biomedicine
, vol.18
, pp. 372-377
-
-
Boué, A.1
Boué, J.2
-
6
-
-
0024245082
-
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
-
Chamberlain, J.S., Gibbs, R.A., Ranier, J.E., Nguyen, P.N. and Caskey, C.T. (1988). Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 16: 11141-11156.
-
(1988)
Nucleic Acids Res.
, vol.16
, pp. 11141-11156
-
-
Chamberlain, J.S.1
Gibbs, R.A.2
Ranier, J.E.3
Nguyen, P.N.4
Caskey, C.T.5
-
7
-
-
0030924230
-
Defining the role of fluorescence in situ hybridization on cultured amniocytes for prenatal diagnosis of aneuploidies
-
D'Alton, M.E. Malone, F.D., Chelmow, D., Ward, B.E. and Bianchi, D.W. (1997). Defining the role of fluorescence in situ hybridization on cultured amniocytes for prenatal diagnosis of aneuploidies. Am. J. Obst. Gynecol. 176: 769-776.
-
(1997)
Am. J. Obst. Gynecol.
, vol.176
, pp. 769-776
-
-
D'Alton, M.E.1
Malone, F.D.2
Chelmow, D.3
Ward, B.E.4
Bianchi, D.W.5
-
8
-
-
0020348328
-
Toward clinical microcytogenetics: The aniridia and the retinoblastoma stories
-
Bonné-Tamir, B., ed.. Alan R. Liss, New York
-
de Grouchy, J. (1982). Toward clinical microcytogenetics: the aniridia and the retinoblastoma stories. In: Human Genetics, Part B: Medical Aspects (Bonné-Tamir, B., ed.). Alan R. Liss, New York, pp. 359-367.
-
(1982)
Human Genetics, Part B: Medical Aspects
, pp. 359-367
-
-
De Grouchy, J.1
-
9
-
-
26444542133
-
Guilt trips, and the art of blaming mom for everything
-
November 3
-
Dreger, A. (1998). Guilt trips, and the art of blaming mom for everything. New York Times, November 3, 1998.
-
(1998)
New York Times
, pp. 1998
-
-
Dreger, A.1
-
10
-
-
0027185655
-
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
-
Ewart, A.K., Morris, C.A., Atkinson, D., Jin, W., Sternes, K., Spallone, P., Stock, A.D., Leppert, M. and Keating, M.T. (1993). Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat. Genet. 5: 11-16.
-
(1993)
Nat. Genet.
, vol.5
, pp. 11-16
-
-
Ewart, A.K.1
Morris, C.A.2
Atkinson, D.3
Jin, W.4
Sternes, K.5
Spallone, P.6
Stock, A.D.7
Leppert, M.8
Keating, M.T.9
-
11
-
-
0000049938
-
Chromosome abnormalities in human reproductive wastage
-
Hassold, T. (1986). Chromosome abnormalities in human reproductive wastage. Trends Genet. 2: 105-110.
-
(1986)
Trends Genet.
, vol.2
, pp. 105-110
-
-
Hassold, T.1
-
12
-
-
0031428584
-
Turner syndrome: A cytogenetic and molecular study
-
Jacobs, P., Dalton, P., James, R., Mosse, K., Power, M., Robinson, D. and Skuse, D. (1997). Turner syndrome: a cytogenetic and molecular study. Ann. Hum. Genet. 61: 471-483.
-
(1997)
Ann. Hum. Genet.
, vol.61
, pp. 471-483
-
-
Jacobs, P.1
Dalton, P.2
James, R.3
Mosse, K.4
Power, M.5
Robinson, D.6
Skuse, D.7
-
13
-
-
0031133081
-
Methylation-specific PCR simplifies imprinting analysis
-
Kubota, T., Das, S., Christian, S.L., Herman, J.G. and Ledbetter, D.H. (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
Herman, J.G.4
Ledbetter, D.H.5
-
14
-
-
0029015848
-
Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: Evaluation of 235 patients
-
Lowery, M.C., Morris, C.A., Ewart, A., Brothman, L.J., Zhu, X.L., Leonard, C.O., Carey, J.C., Keating, M. and Brothman, A.R. (1995). Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. Am. J. Hum. Genet. 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
-
15
-
-
0031731487
-
Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
-
Lupski, J.R. (1998). Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 14: 417-426.
-
(1998)
Trends Genet.
, vol.14
, pp. 417-426
-
-
Lupski, J.R.1
-
16
-
-
0031811718
-
Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin
-
Wu, Y.-Q., Sutton, V.R., Nickerson, E., Lupski, J.R., Potocki, L., Korenberg, J.R., Greenberg, F., Tassabehji, M. and Shaffer, L.G. (1998). Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. Am. J. Med. Genet. 78: 82-89.
-
(1998)
Am. J. Med. Genet.
, vol.78
, pp. 82-89
-
-
Wu, Y.-Q.1
Sutton, V.R.2
Nickerson, E.3
Lupski, J.R.4
Potocki, L.5
Korenberg, J.R.6
Greenberg, F.7
Tassabehji, M.8
Shaffer, L.G.9
-
17
-
-
0007482654
-
Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and "multi-dimensionally impaired"
-
Yan, W., Jacobsen, L.K., Krasnewich, D.M., Guan, X.Y., Lenane, M.C., Paul, S.P., Dalwadi, H.N., Zhang, H., Long, R.T., Kumra, S., Martin, B.M., Scambler, P.J., Trent, J.M., Sidransky, E., Ginns, E.I. and Rapoport, J.L. (1998). Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and "multi-dimensionally impaired". Am. J. Med. Genet. 81: 41-43.
-
(1998)
Am. J. Med. Genet.
, vol.81
, pp. 41-43
-
-
Yan, W.1
Jacobsen, L.K.2
Krasnewich, D.M.3
Guan, X.Y.4
Lenane, M.C.5
Paul, S.P.6
Dalwadi, H.N.7
Zhang, H.8
Long, R.T.9
Kumra, S.10
Martin, B.M.11
Scambler, P.J.12
Trent, J.M.13
Sidransky, E.14
Ginns, E.I.15
Rapoport, J.L.16
-
18
-
-
0032574658
-
Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency
-
Zori, R.T., Boyar, F.Z., Williams, W.N., Gray, B.A., Bent-Williams, A., Stalker, H.J., Rimer, L.A., Nackashi, J.A., Driscoll, D.J., Rasmussen, S.A., Dixon-Wood, V. and Williams, C.A. (1998). Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency. Am. J. Med. Genet. 77: 8-11.
-
(1998)
Am. J. Med. Genet.
, vol.77
, pp. 8-11
-
-
Zori, R.T.1
Boyar, F.Z.2
Williams, W.N.3
Gray, B.A.4
Bent-Williams, A.5
Stalker, H.J.6
Rimer, L.A.7
Nackashi, J.A.8
Driscoll, D.J.9
Rasmussen, S.A.10
Dixon-Wood, V.11
Williams, C.A.12
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