-
1
-
-
8044233695
-
The prevalence of mental retardation: A critical view of recent literature
-
Roeleveld N, Zielhuis GA, Gabreels F. The prevalence of mental retardation: a critical view of recent literature. Dev Med Child Neurol 1997;39:125-32.
-
(1997)
Dev Med Child Neurol
, vol.39
, pp. 125-132
-
-
Roeleveld, N.1
Zielhuis, G.A.2
Gabreels, F.3
-
2
-
-
0030941729
-
Reported biomedical causes and associated medical conditions for mental retardation among 10-year-old children, metropolitan Atlanta, 1985 to 1987
-
Yeargin-Allsopp M, Murphy CC, Cordero JF, Decoufle P, Hollowell JG. Reported biomedical causes and associated medical conditions for mental retardation among 10-year-old children, metropolitan Atlanta, 1985 to 1987. Dev Med Child Neurol 1997;39:142-9.
-
(1997)
Dev Med Child Neurol
, vol.39
, pp. 142-149
-
-
Yeargin-Allsopp, M.1
Murphy, C.C.2
Cordero, J.F.3
Decoufle, P.4
Hollowell, J.G.5
-
3
-
-
0001798712
-
Mental retardation in South Carolina. II. Causation
-
Saul RA, Phelan MC, eds. Greenwood: Greenwood Genetic Center
-
Anderson G, Schroer RJ, Stevenson RE. Mental retardation in South Carolina. II. Causation. In: Saul RA, Phelan MC, eds. Proceedings of the Greenwood Genetic Center. Greenwood: Greenwood Genetic Center, 1996:32-44.
-
(1996)
Proceedings of the Greenwood Genetic Center
, pp. 32-44
-
-
Anderson, G.1
Schroer, R.J.2
Stevenson, R.E.3
-
4
-
-
16944362509
-
Screening and diagnosis for the fragile X syndrome among the mentally retarded: An epidemiological and psychological survey
-
Collaborative Fragile X Study Group
-
De Vries BB, van den Ouweland AM, Mohkamsing S, Duivenvoorden HJ, Mol E, Gelsema K, van Rijn M, Halley DJ, Sandkuijl LA, Oostra BA, Tibben A, Niermeijer MF. Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group. Am J Hum Genet 1997;61:660-7.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 660-667
-
-
De Vries, B.B.1
Van Den Ouweland, A.M.2
Mohkamsing, S.3
Duivenvoorden, H.J.4
Mol, E.5
Gelsema, K.6
Van Rijn, M.7
Halley, D.J.8
Sandkuijl, L.A.9
Oostra, B.A.10
Tibben, A.11
Niermeijer, M.F.12
-
5
-
-
0001798716
-
Mental retardation in South Carolina. III. Chromosome aberrations
-
Saul RA, Phelan MC, eds. Greenwood: Greenwood Genetic Center
-
Phelan MC, Crawford EC, Bealer DM. Mental retardation in South Carolina. III. Chromosome aberrations. In: Saul RA, Phelan MC, eds. Proceedings of the Greenwood Genetic Center. Vol 15. Greenwood: Greenwood Genetic Center, 1996:45-60.
-
(1996)
Proceedings of the Greenwood Genetic Center
, vol.15
, pp. 45-60
-
-
Phelan, M.C.1
Crawford, E.C.2
Bealer, D.M.3
-
6
-
-
0027361785
-
Detection of cryptic chromosomal abnormalities in unexplained mental retardation: A general strategy using hypervariable subtelomeric DNA polymorphisms
-
Wilkie AOM. Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms. Am J Hum Genet 1993;53:688-701.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 688-701
-
-
Wilkie, A.O.M.1
-
7
-
-
0028798545
-
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
-
Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, McDermid HE. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 1995;9:132-40.
-
(1995)
Nat Genet
, vol.9
, pp. 132-140
-
-
Flint, J.1
Wilkie, A.O.2
Buckle, V.J.3
Winter, R.M.4
Holland, A.J.5
McDermid, H.E.6
-
8
-
-
0033552424
-
Subtle chromosomal rearrangements in children with unexplained mental retardation
-
Knight SJL, Regan R, Nicod A, Horsley SW, Kearney L, Homfray T, Winter RM, Bolton P, Flint J. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 1999;354:1676-81.
-
(1999)
Lancet
, vol.354
, pp. 1676-1681
-
-
Knight, S.J.L.1
Regan, R.2
Nicod, A.3
Horsley, S.W.4
Kearney, L.5
Homfray, T.6
Winter, R.M.7
Bolton, P.8
Flint, J.9
-
10
-
-
0029977269
-
Population screening at the FRAXA and FRAXE loci: Molecular analyses of boys with learning difficulties and their mothers
-
Murray A, Youings S, Dennis N, Latsky L, Lineham P, McKechnie N, Macpherson J, Pound M, Jacobs P. Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers. Hum Mol. Genet 1996; 5:727-35.
-
(1996)
Hum Mol. Genet.
, vol.5
, pp. 727-735
-
-
Murray, A.1
Youings, S.2
Dennis, N.3
Latsky, L.4
Lineham, P.5
McKechnie, N.6
Macpherson, J.7
Pound, M.8
Jacobs, P.9
-
11
-
-
0035083998
-
Clinical studies on submicroscopic subtelomeric rearrangements: A checklist
-
De Vries BBA, White SM, Knight SJL, Regan R, Homfray T, Young ID, Super M, McKeown C, Splitt M, Quarrell OWJ, Trainer AH, Niermeijer MF, Malcolm S, Flint J, Hurst JA, Winter RM. Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J Med Genet 2001;38:145-50.
-
(2001)
J Med Genet
, vol.38
, pp. 145-150
-
-
De Vries, B.B.A.1
White, S.M.2
Knight, S.J.L.3
Regan, R.4
Homfray, T.5
Young, I.D.6
Super, M.7
McKeown, C.8
Splitt, M.9
Quarrell, O.W.J.10
Trainer, A.H.11
Niermeijer, M.F.12
Malcolm, S.13
Flint, J.14
Hurst, J.A.15
Winter, R.M.16
-
12
-
-
0034979654
-
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations
-
Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Danesino C, Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Pierluigi M, Perfume C, Di Rocco M, Faravelli F, Dagna Bricarelli F, Bonaglia M, Bedeschi M, Borgatti R. Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J Med Genet 2001;38:417-20.
-
(2001)
J Med Genet
, vol.38
, pp. 417-420
-
-
Rossi, E.1
Piccini, F.2
Zollino, M.3
Neri, G.4
Caselli, D.5
Tenconi, R.6
Castellan, C.7
Carrozzo, R.8
Danesino, C.9
Zuffardi, O.10
Ragusa, A.11
Castiglia, L.12
Galesi, O.13
Greco, D.14
Romano, C.15
Pierluigi, M.16
Perfume, C.17
Di Rocco, M.18
Faravelli, F.19
Dagna Bricarelli, F.20
Bonaglia, M.21
Bedeschi, M.22
Borgatti, R.23
more..
-
13
-
-
0035822267
-
Chromosomal aberrations, subtelomeric defects, and mental retardation
-
Baralle D. Chromosomal aberrations, subtelomeric defects, and mental retardation. Lancet 2001;358:7-8.
-
(2001)
Lancet
, vol.358
, pp. 7-8
-
-
Baralle, D.1
-
14
-
-
18344367819
-
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation
-
Rio M, Molinari F, Heuertz S, Ozilou C, Gosset P, Raoul O, Cormier-Daire V, Amiel J, Lyonnet S, Le Merrer M, Turleau C, de Bois MC, Prieur M, Romena S, Vekemans M, Munnich A, Colleaux L. Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation. J Med Genet 2002;39:266-70.
-
(2002)
J Med Genet
, vol.39
, pp. 266-270
-
-
Rio, M.1
Molinari, F.2
Heuertz, S.3
Ozilou, C.4
Gosset, P.5
Raoul, O.6
Cormier-Daire, V.7
Amiel, J.8
Lyonnet, S.9
Le Merrer, M.10
Turleau, C.11
De Bois, M.C.12
Prieur, M.13
Romena, S.14
Vekemans, M.15
Munnich, A.16
Colleaux, L.17
-
15
-
-
0034809237
-
Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes
-
Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A. Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes. Hum Genet 2001;109:286-94.
-
(2001)
Hum Genet
, vol.109
, pp. 286-294
-
-
Riegel, M.1
Baumer, A.2
Jamar, M.3
Delbecque, K.4
Herens, C.5
Verloes, A.6
Schinzel, A.7
-
16
-
-
0030870848
-
Chromosome 1p36 deletions: The clinical phenotype and the molecular characterization of a common newly delineated syndrome
-
Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FFB, Sutton VR, Korenberg JR, Greenberg F, Shaffer LG. Chromosome 1p36 deletions: the clinical phenotype and the molecular characterization of a common newly delineated syndrome. Am J Hum Genet 1997;61:642-50.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 642-650
-
-
Shapira, S.K.1
McCaskill, C.2
Northrup, H.3
Spikes, A.S.4
Elder, F.F.B.5
Sutton, V.R.6
Korenberg, J.R.7
Greenberg, F.8
Shaffer, L.G.9
-
18
-
-
0033613986
-
Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes
-
Riegel M, Castellan C, Balmer D, Brecevic L, Schinzel A. Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes. Am J Med Oenet 1999;82:249-53.
-
(1999)
Am J Med Oenet
, vol.82
, pp. 249-253
-
-
Riegel, M.1
Castellan, C.2
Balmer, D.3
Brecevic, L.4
Schinzel, A.5
-
19
-
-
0005582666
-
Prenatal diagnosis of a chromosome 1p36 deletion
-
Faivre L, Morichon N, Viot G, Martinovic J, Pinson MP, Raclin V, Edery P, Dumez Y, Munnich A, Vekemans M. Prenatal diagnosis of a chromosome 1p36 deletion. Eur J Hum Genet 1998;6(suppl 1):99.
-
(1998)
Eur J Hum Genet
, vol.6
, Issue.SUPPL. 1
, pp. 99
-
-
Faivre, L.1
Morichon, N.2
Viot, G.3
Martinovic, J.4
Pinson, M.P.5
Raclin, V.6
Edery, P.7
Dumez, Y.8
Munnich, A.9
Vekemans, M.10
-
20
-
-
0032898935
-
Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions
-
Wu YQ, Heistedt HA, Bedell JA, May KM, Starkey DE, McPherson JD, Shapira SK, Shaffer LG. Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions. Hum Mol Genet 1999;8:313-21.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 313-321
-
-
Wu, Y.Q.1
Heistedt, H.A.2
Bedell, J.A.3
May, K.M.4
Starkey, D.E.5
McPherson, J.D.6
Shapira, S.K.7
Shaffer, L.G.8
-
21
-
-
0035101844
-
Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation
-
Giraudeau F, Taine L, Biancalana V, Delobel B, Journel H, Missirian C, Lacombe D, Bonneau D, Parent P, Aubert D, Hauck Y, Croquette MF, Toutain A, Mattei MG, Loiseau HA, David A, Vergnaud G. Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation. J Med Genet 2001;38:121-5.
-
(2001)
J Med Genet
, vol.38
, pp. 121-125
-
-
Giraudeau, F.1
Taine, L.2
Biancalana, V.3
Delobel, B.4
Journel, H.5
Missirian, C.6
Lacombe, D.7
Bonneau, D.8
Parent, P.9
Aubert, D.10
Hauck, Y.11
Croquette, M.F.12
Toutain, A.13
Mattei, M.G.14
Loiseau, H.A.15
David, A.16
Vergnaud, G.17
-
22
-
-
0035083965
-
Submicroscopic subtelomeric 1qter deletions: A recognizable phenotype?
-
De Vries BBA, Knight SJL, Homfray T, Smithson SF, Flint J, Winter RM. Submicroscopic subtelomeric 1qter deletions: a recognizable phenotype? J Med Genet 2001;38:175-8.
-
(2001)
J Med Genet
, vol.38
, pp. 175-178
-
-
De Vries, B.B.A.1
Knight, S.J.L.2
Homfray, T.3
Smithson, S.F.4
Flint, J.5
Winter, R.M.6
-
23
-
-
18244367159
-
Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies
-
Baker E, Hinton L, Callen DF, Altree M, Dobbie A, Eyre HJ, Sutherland GR, Thompson E, Thompson P, Woollatt E, Haan E. Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies. Am J Med Genet 2002;107:285-93.
-
(2002)
Am J Med Genet
, vol.107
, pp. 285-293
-
-
Baker, E.1
Hinton, L.2
Callen, D.F.3
Altree, M.4
Dobbie, A.5
Eyre, H.J.6
Sutherland, G.R.7
Thompson, E.8
Thompson, P.9
Woollatt, E.10
Haan, E.11
-
24
-
-
0003559994
-
Albright hereditary osteodystrophy and del(2)(q37) in two unrelated individuals
-
Phelan MC, Rogers RC, Byrd LK. Albright hereditary osteodystrophy and del(2)(q37) in two unrelated individuals. Am J Hum Genet 1993;53:484.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 484
-
-
Phelan, M.C.1
Rogers, R.C.2
Byrd, L.K.3
-
25
-
-
0029080844
-
Albright hereditary osteodystrophy and del(2)(q37.3) in four unrelated individuals
-
Phelan MC, Rogers RC, Clarkson KB, Bowyer FP, Levine MA, Estabrook LL, Severson MC, Dobyns WB. Albright hereditary osteodystrophy and del(2)(q37.3) in four unrelated individuals. Am J Med Genet 1995;58:1-7.
-
(1995)
Am J Med Genet
, vol.58
, pp. 1-7
-
-
Phelan, M.C.1
Rogers, R.C.2
Clarkson, K.B.3
Bowyer, F.P.4
Levine, M.A.5
Estabrook, L.L.6
Severson, M.C.7
Dobyns, W.B.8
-
26
-
-
0028813978
-
Brachydactyly and mental retardation: An Albright hereditary osteodystrophy-like syndrome localized to 2q37
-
Wilson LC, Leverton K, Oude Luttikhuis MEM, Oley CA, Flint J, Wolstenholme J, Duckett DP, Barrow MA, Leonard JV, Read AP, Trembath RC. Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. Am J Hum Genet 1995;56:400-7.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 400-407
-
-
Wilson, L.C.1
Leverton, K.2
Oude Luttikhuis, M.E.M.3
Oley, C.A.4
Flint, J.5
Wolstenholme, J.6
Duckett, D.P.7
Barrow, M.A.8
Leonard, J.V.9
Read, A.P.10
Trembath, R.C.11
-
27
-
-
0032794675
-
Familial cryptic translocation between chromosomes 2qter and 8qter: Further delineation of the Albright hereditary osteodystrophy-like phenotype
-
Bijlsma EK, Aalfs CM, Sluijter S, Oude Luttikhuis MEM, Trembath RC, Hoovers JMN, Hennekam RCM Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype. J Med Genet 1999;36:604-9.
-
(1999)
J Med Genet
, vol.36
, pp. 604-609
-
-
Bijlsma, E.K.1
Aalfs, C.M.2
Sluijter, S.3
Oude Luttikhuis, M.E.M.4
Trembath, R.C.5
Hoovers, J.M.N.6
Hennekam, R.C.M.7
-
28
-
-
0034608441
-
Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes
-
Bacino CA, Kashork CD, Davino NA, Shaffer LG. Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes. Am J Med Genet 2000;92:250-5.
-
(2000)
Am J Med Genet
, vol.92
, pp. 250-255
-
-
Bacino, C.A.1
Kashork, C.D.2
Davino, N.A.3
Shaffer, L.G.4
-
29
-
-
0031899453
-
A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation
-
Ghaffari SR, Boyd E, Tolmie JL, Crow YJ, Trainer AH, Connor JM. A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation. J Med Genet 1998;35:225-33.
-
(1998)
J Med Genet
, vol.35
, pp. 225-233
-
-
Ghaffari, S.R.1
Boyd, E.2
Tolmie, J.L.3
Crow, Y.J.4
Trainer, A.H.5
Connor, J.M.6
-
30
-
-
0036730049
-
Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic mental retardation and minor physical anomalies
-
Helias-Rodzewicz Z, Bocian E, Stankiewicz P, Obersztyn E, Kostyk E, Jakubow-Durska K, Kutkowska-Kazmierczak A, Marzurczak T. Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic mental retardation and minor physical anomalies. J Med Genet 2002;39:e53.
-
(2002)
J Med Genet
, vol.39
-
-
Helias-Rodzewicz, Z.1
Bocian, E.2
Stankiewicz, P.3
Obersztyn, E.4
Kostyk, E.5
Jakubow-Durska, K.6
Kutkowska-Kazmierczak, A.7
Marzurczak, T.8
-
31
-
-
18244381583
-
Detecting rearrangements in children using subtelomeric FISH and SKY
-
Clarkson B, Pavenski K, Dupuis L, Kennedy S, Meyn S, Nezarati MM, Nie G, Weksberg R, Withers S, Quercia N, Teebi AS, Teshima I. Detecting rearrangements in children using subtelomeric FISH and SKY. Am J Med Genet 2002;107:267-74.
-
(2002)
Am J Med Genet
, vol.107
, pp. 267-274
-
-
Clarkson, B.1
Pavenski, K.2
Dupuis, L.3
Kennedy, S.4
Meyn, S.5
Nezarati, M.M.6
Nie, G.7
Weksberg, R.8
Withers, S.9
Quercia, N.10
Teebi, A.S.11
Teshima, I.12
-
32
-
-
0036467232
-
Subtelomeric rearrangements detected in patients with idiopathic mental retardation
-
Anderlid BM, Schoumans J, Anneren G, Sahlen S, Kyllerman M, Vujic M, Hagberg B, Blennow E, Nordenskjold M. Subtelomeric rearrangements detected in patients with idiopathic mental retardation. Am J Med Genet 2002;107:275-84.
-
(2002)
Am J Med Genet
, vol.107
, pp. 275-284
-
-
Anderlid, B.M.1
Schoumans, J.2
Anneren, G.3
Sahlen, S.4
Kyllerman, M.5
Vujic, M.6
Hagberg, B.7
Blennow, E.8
Nordenskjold, M.9
-
33
-
-
0034774605
-
Comparative genomic hybridisation in mentally retarded patients-with dysmorphic features and a normal karyotype
-
Joly G, Lapierre JM, Ozilou C, Gosset P, Aurias A, de Blois M-C, Prieur M, Raoul O, Colleaux L, Munnich A, Romana SP, Vekemans M, Turleau C. Comparative genomic hybridisation in mentally retarded patients-with dysmorphic features and a normal karyotype. Clin Genet 2001;60:212-19.
-
(2001)
Clin Genet
, vol.60
, pp. 212-219
-
-
Joly, G.1
Lapierre, J.M.2
Ozilou, C.3
Gosset, P.4
Aurias, A.5
De Blois, M.-C.6
Prieur, M.7
Raoul, O.8
Colleaux, L.9
Munnich, A.10
Romana, S.P.11
Vekemans, M.12
Turleau, C.13
-
34
-
-
0033764929
-
The promise and pitfalls of telomere region-specific probes
-
Ballif BC, Kashork CD, Shaffer LG. The promise and pitfalls of telomere region-specific probes. Am J Hum Genet 2000;67:1356-9.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1356-1359
-
-
Ballif, B.C.1
Kashork, C.D.2
Shaffer, L.G.3
-
35
-
-
0033852945
-
Detailed mapping of a congenital heart disease gene in chromosome 3p25
-
Green EK, Priestley MD, Waters J, Maliszewska C, Latif F, Maher ER. Detailed mapping of a congenital heart disease gene in chromosome 3p25. J Med Genet 2000;37:581-7.
-
(2000)
J Med Genet
, vol.37
, pp. 581-587
-
-
Green, E.K.1
Priestley, M.D.2
Waters, J.3
Maliszewska, C.4
Latif, F.5
Maher, E.R.6
-
36
-
-
0024591967
-
GOMBO syndrome of growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia: A possible "new" recessively inherited MCA/MR syndrome
-
Verloes A, Delfortrie J, Lambotte C. GOMBO syndrome of growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia: a possible "new" recessively inherited MCA/MR syndrome. Am J Med Genet 1989;32:15-18.
-
(1989)
Am J Med Genet
, vol.32
, pp. 15-18
-
-
Verloes, A.1
Delfortrie, J.2
Lambotte, C.3
-
37
-
-
0034645514
-
GOMBO syndrome: Another "pseudorecessive" disorder due to a cryptic translocation
-
Verloes A, Lesenfants S, Jamar M, Dideberg V, Herens C. GOMBO syndrome: another "pseudorecessive" disorder due to a cryptic translocation. Am J Med Genet 2000;95:185-6.
-
(2000)
Am J Med Genet
, vol.95
, pp. 185-186
-
-
Verloes, A.1
Lesenfants, S.2
Jamar, M.3
Dideberg, V.4
Herens, C.5
-
38
-
-
0025731532
-
Mother and son with deletion of 3p25-pter
-
Tazelaar J, Roberson J, Van Dyke DL, Babu VR, Weiss L. Mother and son with deletion of 3p25-pter. Am J Med Genet 1991;39:130-2.
-
(1991)
Am J Med Genet
, vol.39
, pp. 130-132
-
-
Tazelaar, J.1
Roberson, J.2
Van Dyke, D.L.3
Babu, V.R.4
Weiss, L.5
-
40
-
-
0027240519
-
Identification of the von Hippel-Lindau disease tumor suppressor gene
-
Latif F, Tory K, Gnarra J, Yao M, Duh F-M, Orcutt ML, Stackhouse T, Kuzmin I, Modi W, Geil L, Schmidt L, Zhou F, Li H, Wei MH, Chen F, Glenn G, Choyke P, Walther MM, Weng Y, Duam DSR, Dean M, Glavac D, Richards FM, Crossey PA, Ferguson-Smith MA, Le Paslier D Chumakov I, Cohen D, Chinault AG, Maher ER, Linehan WM, Zbar B, Lerman MI. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 1993;260:1317-20.
-
(1993)
Science
, vol.260
, pp. 1317-1320
-
-
Latif, F.1
Tory, K.2
Gnarra, J.3
Yao, M.4
Duh, F.-M.5
Orcutt, M.L.6
Stackhouse, T.7
Kuzmin, I.8
Modi, W.9
Geil, L.10
Schmidt, L.11
Zhou, F.12
Li, H.13
Wei, M.H.14
Chen, F.15
Glenn, G.16
Choyke, P.17
Walther, M.M.18
Weng, Y.19
Duam, D.S.R.20
Dean, M.21
Glavac, D.22
Richards, F.M.23
Crossey, P.A.24
Ferguson-Smith, M.A.25
Le Paslier, D.26
Chumakov, I.27
Cohen, D.28
Chinault, A.G.29
Maher, E.R.30
Linehan, W.M.31
Zbar, B.32
Lerman, M.I.33
more..
-
41
-
-
0028286283
-
Molecular genetic analysis of the 3p- syndrome
-
Phipps ME, Latif F, Prowse A, Payne SJ, Dietz-Band J, Leversha M, Affara NA, Moore AT, Tolmie J, Schinzel A, Lerman MI, Ferguson-Smith MA, Maher ER. Molecular genetic analysis of the 3p- syndrome. Hum Mol Genet 1994;3:903-8.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 903-908
-
-
Phipps, M.E.1
Latif, F.2
Prowse, A.3
Payne, S.J.4
Dietz-Band, J.5
Leversha, M.6
Affara, N.A.7
Moore, A.T.8
Tolmie, J.9
Schinzel, A.10
Lerman, M.I.11
Ferguson-Smith, M.A.12
Maher, E.R.13
-
42
-
-
0033615674
-
CALL gene is haploisufficient in a 3p- syndrome patient
-
Angeloni D, Lindor NM, Pack S, Latif F, Wei MH, Lerman MI. CALL gene is haploisufficient in a 3p- syndrome patient. Am J Med Genet 1999;86:482-5.
-
(1999)
Am J Med Genet
, vol.86
, pp. 482-485
-
-
Angeloni, D.1
Lindor, N.M.2
Pack, S.3
Latif, F.4
Wei, M.H.5
Lerman, M.I.6
-
43
-
-
0033837814
-
A gene for nonsyndromic mental retardation maps to chromosome 3p25-pter
-
Higgins JJ, Rosen DR, Loveless JM, Clyman JC, Grau MJ. A gene for nonsyndromic mental retardation maps to chromosome 3p25-pter. Neurology 2000;55:335-40.
-
(2000)
Neurology
, vol.55
, pp. 335-340
-
-
Higgins, J.J.1
Rosen, D.R.2
Loveless, J.M.3
Clyman, J.C.4
Grau, M.J.5
-
44
-
-
0030040451
-
Terminal deletion of the long arm of chromosome 3 (46,XX,del(3)(q27-qter)
-
Chitayat D, Babul R, Silver MM, Jay V, Teshima IE, Babyn P, Becker LE. Terminal deletion of the long arm of chromosome 3 (46,XX,del(3)(q27-qter). Am J Med Genet 1996;61:45-8.
-
(1996)
Am J Med Genet
, vol.61
, pp. 45-48
-
-
Chitayat, D.1
Babul, R.2
Silver, M.M.3
Jay, V.4
Teshima, I.E.5
Babyn, P.6
Becker, L.E.7
-
45
-
-
0028952644
-
Summary of the 1993 ASHG ancillary meeting "Recent research on chromosome 4p syndromes and genes"
-
Estabrooks LL, Breg WR, Hayden MR, Ledbetter DH, Myers RM, Wyandt HE, Yang-Feng TL, Hirschhorn K. Summary of the 1993 ASHG ancillary meeting "Recent research on chromosome 4p syndromes and genes". Am J Med Genet 1995;55:453-8.
-
(1995)
Am J Med Genet
, vol.55
, pp. 453-458
-
-
Estabrooks, L.L.1
Breg, W.R.2
Hayden, M.R.3
Ledbetter, D.H.4
Myers, R.M.5
Wyandt, H.E.6
Yang-Feng, T.L.7
Hirschhorn, K.8
-
46
-
-
0034684044
-
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome
-
Zollini M, Di Stefono C, Zompino G, Mostroiocovo P, Wright TJ, Sorge G, Selicorni A, Tenconi R, Zoppalo A, Bottoglio A, Di Rocco M, Polko G, Pallotto R, Altherr MR, Neri G. Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet 2000;94:254-61.
-
(2000)
Am J Med Genet
, vol.94
, pp. 254-261
-
-
Zollini, M.1
Di Stefono, C.2
Zompino, G.3
Mostroiocovo, P.4
Wright, T.J.5
Sorge, G.6
Selicorni, A.7
Tenconi, R.8
Zoppalo, A.9
Bottoglio, A.10
Di Rocco, M.11
Polko, G.12
Pallotto, R.13
Altherr, M.R.14
Neri, G.15
-
47
-
-
8044224043
-
A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region
-
Wright TJ, Ricke DO, Denison K, Abmayr S, Cotter PD, Hirschhorn K, Keinanen M, McDonald-McGinn D, Somer M, Spinner N, Yang-Feng T, Zackai E, Altherr RM A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. Hum Mol Genet 1997;6:317-24.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 317-324
-
-
Wright, T.J.1
Ricke, D.O.2
Denison, K.3
Abmayr, S.4
Cotter, P.D.5
Hirschhorn, K.6
Keinanen, M.7
McDonald-McGinn, D.8
Somer, M.9
Spinner, N.10
Yang-Feng, T.11
Zackai, E.12
Altherr, R.M.13
-
48
-
-
0033981111
-
Prenatal diagnosis of a fetus with a cryptic translocation 4p;18p and Wolf-Hirschhorn syndrome (WHS)
-
Kohlschmidt N, Zielinski J, Brude E, Schafer D, Olert J, Hallerman C, Arnemann J. Prenatal diagnosis of a fetus with a cryptic translocation 4p;18p and Wolf-Hirschhorn syndrome (WHS). Prenat Diagn 2000;20:152-5.
-
(2000)
Prenat Diagn
, vol.20
, pp. 152-155
-
-
Kohlschmidt, N.1
Zielinski, J.2
Brude, E.3
Schafer, D.4
Olert, J.5
Hallerman, C.6
Arnemann, J.7
-
49
-
-
0025091001
-
Lambotte syndrome: Microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality - A new sublethal multiple congenital anomalies/mental retardation syndrome in four sibs
-
Verloes A, Dodinval P, Beco L, Bonnivert J, Lambotte C. Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality - a new sublethal multiple congenital anomalies/mental retardation syndrome in four sibs. Am J Med Genet 1990;37:119-23.
-
(1990)
Am J Med Genet
, vol.37
, pp. 119-123
-
-
Verloes, A.1
Dodinval, P.2
Beco, L.3
Bonnivert, J.4
Lambotte, C.5
-
50
-
-
0030829130
-
Private multiple congenital anomaly syndromes may result from unbalanced subtle translocations: t(2q;4p) explains the Lambotte syndrome
-
Herens C, Jamar M, Alvarez-Gonzalez ML, Lesenfants S, Lombet J, Bonnivert J, Koulischer L, Verloes A. Private multiple congenital anomaly syndromes may result from unbalanced subtle translocations: t(2q;4p) explains the Lambotte syndrome. Am J Med Genet 1997;73:127-31.
-
(1997)
Am J Med Genet
, vol.73
, pp. 127-131
-
-
Herens, C.1
Jamar, M.2
Alvarez-Gonzalez, M.L.3
Lesenfants, S.4
Lombet, J.5
Bonnivert, J.6
Koulischer, L.7
Verloes, A.8
-
51
-
-
0034597376
-
Familial cryptic translocation with del 4q34-qter and dup 12pter-p13 in sibs with tracheal stenosis: Clinical, classical and molecular cytogenetic studies and CGH analyses from archival placental tissues evidencing tertiary trisomy 4 in one abortion specimen
-
Fritz B, Greber-Platzer S, Frischer T, Streubel B, Groblacher J, Amann G, Ventruba P, Rehder H, Fonatsch C. familial cryptic translocation with del 4q34-qter and dup 12pter-p13 in sibs with tracheal stenosis: clinical, classical and molecular cytogenetic studies and CGH analyses from archival placental tissues evidencing tertiary trisomy 4 in one abortion specimen. Am J Med Genet 2000;94:271-80.
-
(2000)
Am J Med Genet
, vol.94
, pp. 271-280
-
-
Fritz, B.1
Greber-Platzer, S.2
Frischer, T.3
Streubel, B.4
Groblacher, J.5
Amann, G.6
Ventruba, P.7
Rehder, H.8
Fonatsch, C.9
-
52
-
-
0035078603
-
Clinical and molecular characterisation of 80 patients with 5p deletion: Genotype-phenotype correlation
-
Cerruti Mainardi P, Perfumo C, Calli A, Chookyard G, Pastors G, Cavan S, Zara F, Overhauser J, Pierluigi M, Dagna Bricarelli F. Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet 2001;38:151-8.
-
(2001)
J Med Genet
, vol.38
, pp. 151-158
-
-
Cerruti Mainardi, P.1
Perfumo, C.2
Calli, A.3
Chookyard, G.4
Pastors, G.5
Cavan, S.6
Zara, F.7
Overhauser, J.8
Pierluigi, M.9
Dagna Bricarelli, F.10
-
53
-
-
0029028370
-
Evidence for a distinct region causing a cat-like cry in patients with 5p deletions
-
Gersh M, Goodart SA, Pasztor LM, Harris DJ, Weiss L, Overhauser J. Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. Am J Hum Genet 1995;56:1404-10.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1404-1410
-
-
Gersh, M.1
Goodart, S.A.2
Pasztor, L.M.3
Harris, D.J.4
Weiss, L.5
Overhauser, J.6
-
54
-
-
0028947055
-
Molecular definition of deletions of different segments of distal 5p that result in different phenotypic features
-
Church DM, Bengtsson U, Nielsen K, Wasmuth JJ, Niebuhr E. Molecular definition of deletions of different segments of distal 5p that result in different phenotypic features. Am J Hum Genet 1995;56:1162-72.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1162-1172
-
-
Church, D.M.1
Bengtsson, U.2
Nielsen, K.3
Wasmuth, J.J.4
Niebuhr, E.5
-
55
-
-
0030821483
-
Development of diagnostic tools for the analysing of 5p deletions using interphase FISH
-
Gersh M, Grady D, Rojas K, Lovett M, Moyzis R, Overhauser J. Development of diagnostic tools for the analysing of 5p deletions using interphase FISH. Cytogenet Cell Genet 1997;77:246-51.
-
(1997)
Cytogenet Cell Genet
, vol.77
, pp. 246-251
-
-
Gersh, M.1
Grady, D.2
Rojas, K.3
Lovett, M.4
Moyzis, R.5
Overhauser, J.6
-
56
-
-
0028238736
-
Deletion 5q35.3
-
Stratton RF, Tedrowe NA, Tolworthy JA, Patterson RM, Ryan SG, Young RS. Deletion 5q35.3. Am J Med Genet 1994;51:150-2.
-
(1994)
Am J Med Genet
, vol.51
, pp. 150-152
-
-
Stratton, R.F.1
Tedrowe, N.A.2
Tolworthy, J.A.3
Patterson, R.M.4
Ryan, S.G.5
Young, R.S.6
-
57
-
-
0027165043
-
A distinct multiple congenital anomalies syndrome associated with distal 5q deletion (q35.1qter)
-
Kleczkowska A, Fryns JP, Van den Berghe H. A distinct multiple congenital anomalies syndrome associated with distal 5q deletion (q35.1qter). Ann Genet 1993;36:126-8.
-
(1993)
Ann Genet
, vol.36
, pp. 126-128
-
-
Kleczkowska, A.1
Fryns, J.P.2
Van Den Berghe, H.3
-
58
-
-
0032771725
-
Ventricular noncompaction and distal chromosome 5q deletion
-
Pauli RM, Scheib-Wixted S, Cripe L, Izumo S, Sekhon GS. Ventricular noncompaction and distal chromosome 5q deletion. Am J Med Genet 1999;85:419-23.
-
(1999)
Am J Med Genet
, vol.85
, pp. 419-423
-
-
Pauli, R.M.1
Scheib-Wixted, S.2
Cripe, L.3
Izumo, S.4
Sekhon, G.S.5
-
59
-
-
0033012816
-
Delineation of two distinct 6p deletion syndromes
-
Davies AF, Mirza G, Sekhon G, Turnpenny P, Van Regemorter N, Vamos E, Flinter F, Ragoussis J. Delineation of two distinct 6p deletion syndromes. Hum Genet 1999;104:64-72.
-
(1999)
Hum Genet
, vol.104
, pp. 64-72
-
-
Davies, A.F.1
Mirza, G.2
Sekhon, G.3
Turnpenny, P.4
Van Regemorter, N.5
Vamos, E.6
Flinter, F.7
Ragoussis, J.8
-
60
-
-
0031857011
-
Distal 6p deletion syndrome: A report of a case with anterior chamber eye anomaly and review of published reports
-
Law CJ, Fisher AM, Temple IK. Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports. J Med Genet 1998;35:685-9.
-
(1998)
J Med Genet
, vol.35
, pp. 685-689
-
-
Law, C.J.1
Fisher, A.M.2
Temple, I.K.3
-
61
-
-
0029931942
-
Clinical and molecular cytogenetic observations in three cases of "trisomy 12p syndrome"
-
Rauch A, Trautmann U, Pfeiffer RA. Clinical and molecular cytogenetic observations in three cases of "trisomy 12p syndrome". Am J Med Genet 1996;63:243-9.
-
(1996)
Am J Med Genet
, vol.63
, pp. 243-249
-
-
Rauch, A.1
Trautmann, U.2
Pfeiffer, R.A.3
-
62
-
-
0032965557
-
An unbalanced half-cryptic translocation involving the 6q subtelomeric region and 2q25.3 in a child with mental retardation: Uses and limitations of fluorescence in situ hybridization
-
Batanian JR, Hussain MI. An unbalanced half-cryptic translocation involving the 6q subtelomeric region and 2q25.3 in a child with mental retardation: uses and limitations of fluorescence in situ hybridization. Clin Genet 1999;55:265-8.
-
(1999)
Clin Genet
, vol.55
, pp. 265-268
-
-
Batanian, J.R.1
Hussain, M.I.2
-
63
-
-
0034985199
-
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation
-
Colleaux L, Rio M, Heuertz S, Moindrault S, Turleau C, Ozilou C, Gosset P, Raoult O, Lyonnet S, Cormier-Daire V, Amiel J, Le Merrer M, Picq M, de Blois MC, Prieur M, Romana S, Cornelis F, Vekemans M, Munnich A. A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation. Eur J Hum Genet 2001;9:319-27.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 319-327
-
-
Colleaux, L.1
Rio, M.2
Heuertz, S.3
Moindrault, S.4
Turleau, C.5
Ozilou, C.6
Gosset, P.7
Raoult, O.8
Lyonnet, S.9
Cormier-Daire, V.10
Amiel, J.11
Le Merrer, M.12
Picq, M.13
De Blois, M.C.14
Prieur, M.15
Romana, S.16
Cornelis, F.17
Vekemans, M.18
Munnich, A.19
-
64
-
-
0030906366
-
New insights into the phenotypes of 6q deletions
-
Hopkin RJ, Schorry E, Bofinger M, Milatovich A, Stern HJ, Jayne C, Sall HM. New insights into the phenotypes of 6q deletions. Am J Med Genet 1997;70:377-86.
-
(1997)
Am J Med Genet
, vol.70
, pp. 377-386
-
-
Hopkin, R.J.1
Schorry, E.2
Bofinger, M.3
Milatovich, A.4
Stern, H.J.5
Jayne, C.6
Sall, H.M.7
-
65
-
-
0031786268
-
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25
-
Pirola B, Bortotto L, Giglio S, Piovan E, Janes A, Guerrini R, Zuffardi O. Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. J Med Genet 1998;35:1031-3.
-
(1998)
J Med Genet
, vol.35
, pp. 1031-1033
-
-
Pirola, B.1
Bortotto, L.2
Giglio, S.3
Piovan, E.4
Janes, A.5
Guerrini, R.6
Zuffardi, O.7
-
66
-
-
10344260241
-
Deletion of the long arm of chromosome 6: Two new patients and a literature overview
-
Evers LJM, Schrander-Stumpel CTRM, Engelen JJM, Hoorntje TM, Pulles-Heintzberger CFM, Schrander JJP, Albrechts JCM, Peters J, Fryns JP. Deletion of the long arm of chromosome 6: two new patients and a literature overview. Clin Genet 1996;50:138-44.
-
(1996)
Clin Genet
, vol.50
, pp. 138-144
-
-
Evers, L.J.M.1
Schrander-Stumpel, C.T.R.M.2
Engelen, J.J.M.3
Hoorntje, T.M.4
Pulles-Heintzberger, C.F.M.5
Schrander, J.J.P.6
Albrechts, J.C.M.7
Peters, J.8
Fryns, J.P.9
-
67
-
-
0028241918
-
Six cases of 7p deletion: Clinical, cytogenetic, and molecular studies
-
Chotia KA, Brueton LA, Van Herwerden L, Garrett C, Hinkel GK, Schinzel A, Mueller RF, Speleman F, Winter RM. Six cases of 7p deletion: clinical, cytogenetic, and molecular studies. Am J Med Genet 1994;51:270-6.
-
(1994)
Am J Med Genet
, vol.51
, pp. 270-276
-
-
Chotia, K.A.1
Brueton, L.A.2
Van Herwerden, L.3
Garrett, C.4
Hinkel, G.K.5
Schinzel, A.6
Mueller, R.F.7
Speleman, F.8
Winter, R.M.9
-
68
-
-
17344363829
-
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis
-
Ross AJ, Ruis-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Orstavik KH, Monclair T, Robson S, Reardon W, Burn J, Scambler P, Strachan T. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet 1998;20:358-61.
-
(1998)
Nat Genet
, vol.20
, pp. 358-361
-
-
Ross, A.J.1
Ruis-Perez, V.2
Wang, Y.3
Hagan, D.M.4
Scherer, S.5
Lynch, S.A.6
Lindsay, S.7
Custard, E.8
Belloni, E.9
Wilson, D.I.10
Wadey, R.11
Goodman, F.12
Orstavik, K.H.13
Monclair, T.14
Robson, S.15
Reardon, W.16
Burn, J.17
Scambler, P.18
Strachan, T.19
-
69
-
-
0030294408
-
Mutations in the human sonic hedgehog gene cause holoprosencephaly
-
Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Munke M. Mutations in the human sonic hedgehog gene cause holoprosencephaly. Nat Genet 1996;14:357-60.
-
(1996)
Nat Genet
, vol.14
, pp. 357-360
-
-
Roessler, E.1
Belloni, E.2
Gaudenz, K.3
Jay, P.4
Berta, P.5
Scherer, S.W.6
Tsui, L.C.7
Munke, M.8
-
70
-
-
0033048717
-
A case of recurrent congenital fetal anomalies associated with a fomiliol subtelomeric translocation
-
Brackley KJ, Kilby MD, Morton J, Whittle MJ, Knight SJL, Flint J. A case of recurrent congenital fetal anomalies associated with a fomiliol subtelomeric translocation. Prenat Diagn 1999;19:570-4.
-
(1999)
Prenat Diagn
, vol.19
, pp. 570-574
-
-
Brackley, K.J.1
Kilby, M.D.2
Morton, J.3
Whittle, M.J.4
Knight, S.J.L.5
Flint, J.6
-
71
-
-
0032859540
-
Sacral dysgenesis associated with terminal deletion of chromosome 7q: A report of two families
-
Wang J, Spitz L, Hayward R, Kiely E, Holl CM, O'Donoghue DP, Palmer R, Goodman FR, Scambler PJ, Winter RM, Reardon W. Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families. Eur J Pediatr 1999;158:902-5.
-
(1999)
Eur J Pediatr
, vol.158
, pp. 902-905
-
-
Wang, J.1
Spitz, L.2
Hayward, R.3
Kiely, E.4
Holl, C.M.5
O'Donoghue, D.P.6
Palmer, R.7
Goodman, F.R.8
Scambler, P.J.9
Winter, R.M.10
Reardon, W.11
-
72
-
-
0035313941
-
Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13)
-
De Vries BBA Lees M, Knight SJL, Regan R, Carney D, Flint J, Barnicoat A, Winter RM. Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13). Am J Med Genet 2001;99:314-19.
-
(2001)
Am J Med Genet
, vol.99
, pp. 314-319
-
-
De Vries, B.B.A.1
Lees, M.2
Knight, S.J.L.3
Regan, R.4
Carney, D.5
Flint, J.6
Barnicoat, A.7
Winter, R.M.8
-
73
-
-
0034878074
-
Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay
-
Sismani C, Armour JAL, Flint J, Girgalli C, Regan R, Patsalis PC. Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay. Eur J Hum Genet 2001;9:527-32.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 527-532
-
-
Sismani, C.1
Armour, J.A.L.2
Flint, J.3
Girgalli, C.4
Regan, R.5
Patsalis, P.C.6
-
74
-
-
0026785695
-
Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmarphic features, seizures, and mild mental retardation
-
Prettenati MJ, Rao N, Johnoson C, Hayworth R, Crandall K, Huff O, Thomas IT. Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmarphic features, seizures, and mild mental retardation. Hum Genet 1992;89:602-6.
-
(1992)
Hum Genet
, vol.89
, pp. 602-606
-
-
Prettenati, M.J.1
Rao, N.2
Johnoson, C.3
Hayworth, R.4
Crandall, K.5
Huff, O.6
Thomas, I.T.7
-
75
-
-
0032854607
-
A paternally inherited terminal deletion, del(8)(p23.1)pat, detected prenatally in an amniotic fluid sample: A review of deletion 8p23.1 cases
-
Reddy KS. A paternally inherited terminal deletion, del(8)(p23.1)pat, detected prenatally in an amniotic fluid sample: a review of deletion 8p23.1 cases. Pren Diagn 1999;19:868-72.
-
(1999)
Pren Diagn
, vol.19
, pp. 868-872
-
-
Reddy, K.S.1
-
77
-
-
0027208980
-
Molecular and cytogenetic characterization of 9p- abnormalities
-
Teebi AS, Gibson L, McGrath J, Meyn MS, Breg WR, Yang-Feng TL. Molecular and cytogenetic characterization of 9p- abnormalities. Am J Med Genet 1993;46:288-92.
-
(1993)
Am J Med Genet
, vol.46
, pp. 288-292
-
-
Teebi, A.S.1
Gibson, L.2
McGrath, J.3
Meyn, M.S.4
Breg, W.R.5
Yang-Feng, T.L.6
-
78
-
-
0034077305
-
FISH mapping of the sex-reversal region on human chromosome 9p in two females and in primates
-
Shan Z, Zabel B, Trautmann U, Hillig U, Ottolenghi C, Wang Y, Haaf T. FISH mapping of the sex-reversal region on human chromosome 9p in two females and in primates. Eur J Hum Genet 2000;8:167-73.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 167-173
-
-
Shan, Z.1
Zabel, B.2
Trautmann, U.3
Hillig, U.4
Ottolenghi, C.5
Wang, Y.6
Haaf, T.7
-
79
-
-
0034162155
-
The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain
-
Ottolenghi C, Veitia R, Quintana-Murci L, Torchard D, Scapoli L, Souleyreau-Therville N, Beckmann J, Fellous M, McElreavey K. The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain. Genomics 2000;64:170-8.
-
(2000)
Genomics
, vol.64
, pp. 170-178
-
-
Ottolenghi, C.1
Veitia, R.2
Quintana-Murci, L.3
Torchard, D.4
Scapoli, L.5
Souleyreau-Therville, N.6
Beckmann, J.7
Fellous, M.8
McElreavey, K.9
-
80
-
-
0034805155
-
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations
-
Rosenberg MJ, Killoran C, Dziadzio L, Chang S, Stone DL, Meck J, Aughton D, Bird LM, Bodurtha J, Cassidy SB, Graham JM, Grix A, Guttmacher AE, Hudgins L, Kozma C, Michaelis RC, Pauli R, Peters KF, Rosenbaum KN, Tifft CJ, Wargowski D, Williams MS, Biesecker LG. Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations. Hum Genet 2001;109:311-18.
-
(2001)
Hum Genet
, vol.109
, pp. 311-318
-
-
Rosenberg, M.J.1
Killoran, C.2
Dziadzio, L.3
Chang, S.4
Stone, D.L.5
Meck, J.6
Aughton, D.7
Bird, L.M.8
Bodurtha, J.9
Cassidy, S.B.10
Graham, J.M.11
Grix, A.12
Guttmacher, A.E.13
Hudgins, L.14
Kozma, C.15
Michaelis, R.C.16
Pauli, R.17
Peters, K.F.18
Rosenbaum, K.N.19
Tifft, C.J.20
Wargowski, D.21
Williams, M.S.22
Biesecker, L.G.23
more..
-
81
-
-
0028087751
-
Deletion of the short arm of chromosome 10 (10p13): Report of a patient and review
-
Shapira M, Borochowitz Z, Bar-El H, Dar H, Etzioni A, Lorber A. Deletion of the short arm of chromosome 10 (10p13): report of a patient and review. Am J Med Genet 1994;52:34-8.
-
(1994)
Am J Med Genet
, vol.52
, pp. 34-38
-
-
Shapira, M.1
Borochowitz, Z.2
Bar-El, H.3
Dar, H.4
Etzioni, A.5
Lorber, A.6
-
82
-
-
0031971431
-
MRI findings in a patient with partial monosomy 10p
-
Sunada F, Rash FC, Tam DA. MRI findings in a patient with partial monosomy 10p. J Med Genet 1998;35:159-61.
-
(1998)
J Med Genet
, vol.35
, pp. 159-161
-
-
Sunada, F.1
Rash, F.C.2
Tam, D.A.3
-
83
-
-
0034721115
-
GATA3 haplo-insufficiency causes humdn HDR syndrome
-
Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K. GATA3 haplo-insufficiency causes humdn HDR syndrome. Nature 2000;406:419-22.
-
(2000)
Nature
, vol.406
, pp. 419-422
-
-
Van Esch, H.1
Groenen, P.2
Nesbit, M.A.3
Schuffenhauer, S.4
Lichtner, P.5
Vanderlinden, G.6
Harding, B.7
Beetz, R.8
Bilous, R.W.9
Holdaway, I.10
Shaw, N.J.11
Fryns, J.P.12
Van De Ven, W.13
Thakker, R.V.14
Devriendt, K.15
-
84
-
-
15844403609
-
A common region of 10p deleted in DiGeorge and velocardiofacial syndromes
-
Daw SCM, Taylor C, Kraman M, Call K, Mao J, Schuffenhauer S, Meitinger T, Lipson T, Goodship J, Scambler P. A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nat Genet 1996;13:458-60.
-
(1996)
Nat Genet
, vol.13
, pp. 458-460
-
-
Daw, S.C.M.1
Taylor, C.2
Kraman, M.3
Call, K.4
Mao, J.5
Schuffenhauer, S.6
Meitinger, T.7
Lipson, T.8
Goodship, J.9
Scambler, P.10
-
85
-
-
0036019517
-
Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p
-
Lichtner P, Attie-Bitach T, Schuffenhauer S, Henwood J, Bouvagnet P, Scambler PJ, Meitinger T, Vekemans M. Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p. J Mol Med 2002;80:431-42.
-
(2002)
J Mol Med
, vol.80
, pp. 431-442
-
-
Lichtner, P.1
Attie-Bitach, T.2
Schuffenhauer, S.3
Henwood, J.4
Bouvagnet, P.5
Scambler, P.J.6
Meitinger, T.7
Vekemans, M.8
-
86
-
-
18644368725
-
"Molecular rulers" for calibrating phenotypic effects of telomere imbalance
-
Martin CL, Waggoner DJ, Wang A, Uhrig S, Roseberry JA, Hedrick JF, Pack SD, Russell K, Zackai E, Dobyns WB, Ledbetter DH. "Molecular rulers" for calibrating phenotypic effects of telomere imbalance. J Med Genet 2002;39:734-40.
-
(2002)
J Med Genet
, vol.39
, pp. 734-740
-
-
Martin, C.L.1
Waggoner, D.J.2
Wang, A.3
Uhrig, S.4
Roseberry, J.A.5
Hedrick, J.F.6
Pack, S.D.7
Russell, K.8
Zackai, E.9
Dobyns, W.B.10
Ledbetter, D.H.11
-
88
-
-
0033543489
-
Terminal deletion of chromosome 10q at band 26.1: Follow-up in an adolescent male with high-output renal failure from congenital obstructive uropathy
-
Leonard NJ, Harley FL, Lin CC. Terminal deletion of chromosome 10q at band 26. 1: follow-up in an adolescent male with high-output renal failure from congenital obstructive uropathy. Am J Med Genet 1999;B6:115-17.
-
(1999)
Am J Med Genet
, vol.B6
, pp. 115-117
-
-
Leonard, N.J.1
Harley, F.L.2
Lin, C.C.3
-
89
-
-
0034122180
-
Pure distal monosomy 10q26 in a patient displaying clinical features of Prader-Willi syndrome during infancy and a distinct behavioural phenotype in adolescence
-
Lukusa T, Fryns JP. Pure distal monosomy 10q26 in a patient displaying clinical features of Prader-Willi syndrome during infancy and a distinct behavioural phenotype in adolescence. Genet Couns 2000;11:119-26.
-
(2000)
Genet Couns
, vol.11
, pp. 119-126
-
-
Lukusa, T.1
Fryns, J.P.2
-
90
-
-
0023933233
-
Complex chromosomal rearrangement involving chromosomes 11, 13 and 21
-
Kleczkowska A, Fryns JP, Jaeken J, Van den Berghe H. Complex chromosomal rearrangement involving chromosomes 11, 13 and 21. Ann Genet 1988;31:126-8.
-
(1988)
Ann Genet
, vol.31
, pp. 126-128
-
-
Kleczkowska, A.1
Fryns, J.P.2
Jaeken, J.3
Van Den Berghe, H.4
-
91
-
-
0032874103
-
11q- syndrome: Three cases and a review of the literature
-
Leegte B, Kerstjens-Frederikse WS, Deelstra K, Begeer JH, van Essen AJ. 11q- syndrome: three cases and a review of the literature. Genet Couns 1999;10:305-13.
-
(1999)
Genet Couns
, vol.10
, pp. 305-313
-
-
Leegte, B.1
Kerstjens-Frederikse, W.S.2
Deelstra, K.3
Begeer, J.H.4
Van Essen, A.J.5
-
92
-
-
0028910140
-
Clinical and molecular characterization of patients with distal 11q deletions
-
Penny LA, Dell'Aquila M, Jones MC, Bergoffen J, Cunniff C, Fryns JP, Grace E, Graham JM, Kousseff B, Mattina T, Syme J, Voullaire L, Zelante L, Zenger-Hain J, Jones OW, Evans GA. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet 1995;56:676-83.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 676-683
-
-
Penny, L.A.1
Dell'Aquila, M.2
Jones, M.C.3
Bergoffen, J.4
Cunniff, C.5
Fryns, J.P.6
Grace, E.7
Graham, J.M.8
Kousseff, B.9
Mattina, T.10
Syme, J.11
Voullaire, L.12
Zelante, L.13
Zenger-Hain, J.14
Jones, O.W.15
Evans, G.A.16
-
93
-
-
0035050576
-
Cryptic familial t(11;18)(q25;q23) incidentally detected by interphase FISH
-
Schultz LN, Schmidt P, Tabor A, Bryndorf T, Christensen B, Lundsteen C. Cryptic familial t(11;18)(q25;q23) incidentally detected by interphase FISH. Clin Genet 2001;59:279-83.
-
(2001)
Clin Genet
, vol.59
, pp. 279-283
-
-
Schultz, L.N.1
Schmidt, P.2
Tabor, A.3
Bryndorf, T.4
Christensen, B.5
Lundsteen, C.6
-
95
-
-
0036524140
-
A familial cryptic subtelomeric deletion 12p with variable phenotypic effect
-
Baker E, Hinton L, Callen DF, Haan EA, Dobbie A, Sutherland GR. A familial cryptic subtelomeric deletion 12p with variable phenotypic effect. Clin Genet 2002;61:198-201.
-
(2002)
Clin Genet
, vol.61
, pp. 198-201
-
-
Baker, E.1
Hinton, L.2
Callen, D.F.3
Haan, E.A.4
Dobbie, A.5
Sutherland, G.R.6
-
96
-
-
0033888037
-
Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features
-
Kleefstra T, Van de Zande G, Merkx G, Mieloo H, Hoovers JMN, Smeets D. Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features. Eur J Hum Genet 2000;8:637-40.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 637-640
-
-
Kleefstra, T.1
Van De Zande, G.2
Merkx, G.3
Mieloo, H.4
Hoovers, J.M.N.5
Smeets, D.6
-
97
-
-
0032545204
-
Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p
-
Meschede D, Exeler R, Wittwer B, Horst J. Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p. Am J Med Genet 1998;80:443-7.
-
(1998)
Am J Med Genet
, vol.80
, pp. 443-447
-
-
Meschede, D.1
Exeler, R.2
Wittwer, B.3
Horst, J.4
-
98
-
-
0036605106
-
Further delineation of the chromosome 14q terminal deletion syndrome
-
Van Karnebeek CDM, Quik S, Sluijter S, Hulsbeek MMF, Hoovers JMN, Hennekam RCM. Further delineation of the chromosome 14q terminal deletion syndrome. Am J Med Genet 2002;110:65-72.
-
(2002)
Am J Med Genet
, vol.110
, pp. 65-72
-
-
Van Karnebeek, C.D.M.1
Quik, S.2
Sluijter, S.3
Hulsbeek, M.M.F.4
Hoovers, J.M.N.5
Hennekam, R.C.M.6
-
99
-
-
0023838293
-
Brief clinical report and review: Two patients with ring chromosome 15 syndrome
-
Butler MG, Meany FJ, Fuchs DA, Collins FS, Dev VG, Phillips JA. Brief clinical report and review: two patients with ring chromosome 15 syndrome. Am J Med Genet 1988;29:149-54.
-
(1988)
Am J Med Genet
, vol.29
, pp. 149-154
-
-
Butler, M.G.1
Meany, F.J.2
Fuchs, D.A.3
Collins, F.S.4
Dev, V.G.5
Phillips, J.A.6
-
100
-
-
0027522656
-
Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome
-
Tamura T, Tohma T, Ohta T, Soejima H, Harada N, Abe K, Niikawa N. Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome. Clin Dysmorphol 1993;2:106-13.
-
(1993)
Clin Dysmorphol
, vol.2
, pp. 106-113
-
-
Tamura, T.1
Tohma, T.2
Ohta, T.3
Soejima, H.4
Harada, N.5
Abe, K.6
Niikawa, N.7
-
101
-
-
0030003708
-
Distinct 15q genotypes in Russell-Silver and ring 15 syndromes
-
Rogan PK, Seip JR, Driscoll DJ, Papenhausen PR, Johnson VP, Raskin S, Woodward AL, Butler MG. Distinct 15q genotypes in Russell-Silver and ring 15 syndromes. Am J Med Genet 1996;62:10-15.
-
(1996)
Am J Med Genet
, vol.62
, pp. 10-15
-
-
Rogan, P.K.1
Seip, J.R.2
Driscoll, D.J.3
Papenhausen, P.R.4
Johnson, V.P.5
Raskin, S.6
Woodward, A.L.7
Butler, M.G.8
-
102
-
-
0019784411
-
Hemoglobin H disease and mental retardation; a new syndrome or a remarkable coincidence
-
Weatherall DJ, Higgs DR, Bunch C, Old JM, Hunt DM, Pressley L, Clegg JB, Bethenfalvay NC, Sjolin S, Koler RD, Magenis E, Francis JL, Bebbington D. Hemoglobin H disease and mental retardation; a new syndrome or a remarkable coincidence. N Engl J Med 1981;305:607-12.
-
(1981)
N Engl J Med
, vol.305
, pp. 607-612
-
-
Weatherall, D.J.1
Higgs, D.R.2
Bunch, C.3
Old, J.M.4
Hunt, D.M.5
Pressley, L.6
Clegg, J.B.7
Bethenfalvay, N.C.8
Sjolin, S.9
Koler, R.D.10
Magenis, E.11
Francis, J.L.12
Bebbington, D.13
-
103
-
-
0025279092
-
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p 13.3
-
Wilkie AOM, Buckle VJ, Harris PC, Lamb J, Barton NJ, Reeders ST, Lindenbaum RH, Nicholls RD, Barrow M, Bethlenfalvay NC, Hutz MH, Tolmie JL, Weatherall DJ, Higgs DR. Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p 13.3. Am J Hum Genet 1990;46:1112-26.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 1112-1126
-
-
Wilkie, A.O.M.1
Buckle, V.J.2
Harris, P.C.3
Lamb, J.4
Barton, N.J.5
Reeders, S.T.6
Lindenbaum, R.H.7
Nicholls, R.D.8
Barrow, M.9
Bethlenfalvay, N.C.10
Hutz, M.H.11
Tolmie, J.L.12
Weatherall, D.J.13
Higgs, D.R.14
-
104
-
-
0033909534
-
Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3)
-
Holinski-Feder E, Reyniers E, Uhrig S, Golla A, Wauters J, Kroisel P, Bossuyt P, Rost I, Jedele K, Zierler H, Schwab S, Wildenauer D, Speicher MR, Willems PJ, Meitinger T, Kooy RF. Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3). Am J Hum Genet 2000;66:16-25.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 16-25
-
-
Holinski-Feder, E.1
Reyniers, E.2
Uhrig, S.3
Golla, A.4
Wauters, J.5
Kroisel, P.6
Bossuyt, P.7
Rost, I.8
Jedele, K.9
Zierler, H.10
Schwab, S.11
Wildenauer, D.12
Speicher, M.R.13
Willems, P.J.14
Meitinger, T.15
Kooy, R.F.16
-
105
-
-
0034047098
-
Detection of submicroscopic subtelomeric chromosome translocations: A new case study
-
Warburton P, Mohammed S, Ogilvie CM. Detection of submicroscopic subtelomeric chromosome translocations: a new case study. Am J Med Genet 2000;91:51-5.
-
(2000)
Am J Med Genet
, vol.91
, pp. 51-55
-
-
Warburton, P.1
Mohammed, S.2
Ogilvie, C.M.3
-
106
-
-
0034063937
-
An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3) pat associated with tuberous sclerosis complex, adult polycystic kidney disease and hypomelanosis of Ito
-
Eussen BHJ, Bartalini G, Bakker L, Balestri P, Di Lucca C, Van Hemel JO, Dauwerse H, Van den Ouweland AMW, Ris-Stalpers C, Verhoef S, Halley DJJ, Fois A. An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3) pat associated with tuberous sclerosis complex, adult polycystic kidney disease and hypomelanosis of Ito. J Med Genet 2000;37:287-91.
-
(2000)
J Med Genet
, vol.37
, pp. 287-291
-
-
Eussen, B.H.J.1
Bartalini, G.2
Bakker, L.3
Balestri, P.4
Di Lucca, C.5
Van Hemel, J.O.6
Dauwerse, H.7
Van Den Ouweland, A.M.W.8
Ris-Stalpers, C.9
Verhoef, S.10
Halley, D.J.J.11
Fois, A.12
-
107
-
-
17744362866
-
Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL
-
Brown J, Horsley SW, Jung C, Saracoglu K, Janssen B, Brough M, Daschner M, Beedgen B, Kerkhoffs G, Eils R, Harris PC, Jauch A, Kearney L. Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL. Eur J Hum Genet 2000;8:903-10.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 903-910
-
-
Brown, J.1
Horsley, S.W.2
Jung, C.3
Saracoglu, K.4
Janssen, B.5
Brough, M.6
Daschner, M.7
Beedgen, B.8
Kerkhoffs, G.9
Eils, R.10
Harris, P.C.11
Jauch, A.12
Kearney, L.13
-
108
-
-
0033995606
-
The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome
-
Pfeifer D, Poulat F, Holinski-Feder E, Kooy F, Scherer G. The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome. Genomics 2000;63:108-16.
-
(2000)
Genomics
, vol.63
, pp. 108-116
-
-
Pfeifer, D.1
Poulat, F.2
Holinski-Feder, E.3
Kooy, F.4
Scherer, G.5
-
109
-
-
0035080355
-
Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects
-
Horsley SW, Daniels RJ, Anguita E, Raynham HA, Peden JF, Villegas A, Vickers MA, Green S, Waye JS, Chui DHK, Ayyub H, MacCarthy AB, Buckle VJ, Gibbons RJ, Kearney L, Higgs DR. Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects. Eur J Hum Genet 2001;9:217-25.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 217-225
-
-
Horsley, S.W.1
Daniels, R.J.2
Anguita, E.3
Raynham, H.A.4
Peden, J.F.5
Villegas, A.6
Vickers, M.A.7
Green, S.8
Waye, J.S.9
Chui, D.H.K.10
Ayyub, H.11
MacCarthy, A.B.12
Buckle, V.J.13
Gibbons, R.J.14
Kearney, L.15
Higgs, D.R.16
-
110
-
-
0030900462
-
A small deletion of 16q23.1->16q24.2 in a boy with iris coloboma and minor anomalies
-
Werner W, Kraft S, Callen DF, Bartsch O, Hinkel GK. A small deletion of 16q23.1->16q24.2 in a boy with iris coloboma and minor anomalies. Am J Med Genet 1997;70:371-6.
-
(1997)
Am J Med Genet
, vol.70
, pp. 371-376
-
-
Werner, W.1
Kraft, S.2
Callen, D.F.3
Bartsch, O.4
Hinkel, G.K.5
-
111
-
-
0036134797
-
Molecular characterization of a ring chromosome 16 from a patient with bilateral cataracts
-
He W, Tuck-Muller CM, Martinez JE, Li S, Rowley ER, Wertelecki W. Molecular characterization of a ring chromosome 16 from a patient with bilateral cataracts. Am J Med Genet 2002;107:12-17.
-
(2002)
Am J Med Genet
, vol.107
, pp. 12-17
-
-
He, W.1
Tuck-Muller, C.M.2
Martinez, J.E.3
Li, S.4
Rowley, E.R.5
Wertelecki, W.6
-
112
-
-
0031044564
-
Prenatal and postnatal investigation of a case with Miller-Dieker syndrome due to a amilial cryptic translocation t(17;20)(p13.3;q13.3) detected by fluorescence in situ hybridization
-
Van Zelderen-Bhola SL, Breslau-Siderius EJ, Beverstock GC, Stolte-Dijkstra I, De Vries LS, Stoutenbeek P, De Pater JM. Prenatal and postnatal investigation of a case with Miller-Dieker syndrome due to a amilial cryptic translocation t(17;20)(p13.3;q13.3) detected by fluorescence in situ hybridization. Prenat Diagn 1997;17:173-9.
-
(1997)
Prenat Diagn
, vol.17
, pp. 173-179
-
-
Van Zelderen-Bhola, S.L.1
Breslau-Siderius, E.J.2
Beverstock, G.C.3
Stolte-Dijkstra, I.4
De Vries, L.S.5
Stoutenbeek, P.6
De Pater, J.M.7
-
113
-
-
0028861981
-
Miller-Dieker syndrome due to maternal cryptic translocation t(10;17)(q26.3;p13.3)
-
Masuno M, Imaizumi K, Nakamura M, Matsui K, Goto A, Kuroki Y. Miller-Dieker syndrome due to maternal cryptic translocation t(10;17)(q26.3;p13.3). Am J Med Genet 1995;59:441-3.
-
(1995)
Am J Med Genet
, vol.59
, pp. 441-443
-
-
Masuno, M.1
Imaizumi, K.2
Nakamura, M.3
Matsui, K.4
Goto, A.5
Kuroki, Y.6
-
114
-
-
0027331380
-
Miller-Dieker syndrome: Detection of a cryptic chromosome translocation using in situ hybridization in a family with multiple affected offspring
-
Alvarado M, Bass HN, Caldwell S, Jamehdor M, Miller AA, Jacob P. Miller-Dieker syndrome: detection of a cryptic chromosome translocation using in situ hybridization in a family with multiple affected offspring. Am J Dis Child 1993;147:1291-4.
-
(1993)
Am J Dis Child
, vol.147
, pp. 1291-1294
-
-
Alvarado, M.1
Bass, H.N.2
Caldwell, S.3
Jamehdor, M.4
Miller, A.A.5
Jacob, P.6
-
115
-
-
0031976540
-
Isolated lissencephaly sequence with balanced chromosome translocation involving 17p13.3
-
Honda A, Ono J, Kurahashi H, Mano T, Imai K, Okada S. Isolated lissencephaly sequence with balanced chromosome translocation involving 17p13.3. Brain Dev 1998;20:190-2.
-
(1998)
Brain Dev
, vol.20
, pp. 190-192
-
-
Honda, A.1
Ono, J.2
Kurahashi, H.3
Mano, T.4
Imai, K.5
Okada, S.6
-
116
-
-
0033001282
-
Miller-Dieker syndrome and trisomy p. in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci
-
Mutchinick OM, Shaffer LG, Kashork CD, Cervantes El. Miller-Dieker syndrome and trisomy p. in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci. Am J Med Genet 1999;85:99-104.
-
(1999)
Am J Med Genet
, vol.85
, pp. 99-104
-
-
Mutchinick, O.M.1
Shaffer, L.G.2
Kashork, C.D.3
Cervantes, E.I.4
-
117
-
-
0035662379
-
Silver-Russell syndrome: A dissection of the genetic aetiology and candidate chromosomal regions
-
Hitchins MP, Stanier P, Preece MA, Moore GE. Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions. J Med Genet 2001;38:810-19.
-
(2001)
J Med Genet
, vol.38
, pp. 810-819
-
-
Hitchins, M.P.1
Stanier, P.2
Preece, M.A.3
Moore, G.E.4
-
118
-
-
0028889260
-
Physical mapping of the holoprosencephaly critical region in 18p11.3
-
Overhauser J, Mitchell HF, Zackai EH, Tick DB, Rojas K, Muenke M. Physical mapping of the holoprosencephaly critical region in 18p11.3. Am J Hum Genet 1995;57:1080-5.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1080-1085
-
-
Overhauser, J.1
Mitchell, H.F.2
Zackai, E.H.3
Tick, D.B.4
Rojas, K.5
Muenke, M.6
-
119
-
-
16744368142
-
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination
-
Gripp KW, Wotton D, Edwards MC, Roessler E, Ades L, Meinecke P, Richieri-Costa A, Zackai EH, Massague J, Muenke M, Elledge S. Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Nat Genet 2000;25:205-8.
-
(2000)
Nat Genet
, vol.25
, pp. 205-208
-
-
Gripp, K.W.1
Wotton, D.2
Edwards, M.C.3
Roessler, E.4
Ades, L.5
Meinecke, P.6
Richieri-Costa, A.7
Zackai, E.H.8
Massague, J.9
Muenke, M.10
Elledge, S.11
-
120
-
-
0031595770
-
Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay far subtelomeric chromosome rearrangements
-
Horsley SW, Knight SJL, Nixon J, Huson S, Fitchett M, Boone RA, Hilton-Jones D, Flint J, Kearney L. Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay far subtelomeric chromosome rearrangements. J Med Genet 1998;35:722-6.
-
(1998)
J Med Genet
, vol.35
, pp. 722-726
-
-
Horsley, S.W.1
Knight, S.J.L.2
Nixon, J.3
Huson, S.4
Fitchett, M.5
Boone, R.A.6
Hilton-Jones, D.7
Flint, J.8
Kearney, L.9
-
121
-
-
0035865978
-
Familial del(18p) syndrome
-
Tsukahara M, Imaizumi K, Fujita K, Tateishi H, Uchida M. Familial del(18p) syndrome. Am J Med Genet 2001;99:67-9.
-
(2001)
Am J Med Genet
, vol.99
, pp. 67-69
-
-
Tsukahara, M.1
Imaizumi, K.2
Fujita, K.3
Tateishi, H.4
Uchida, M.5
-
122
-
-
0030453087
-
Familial deletion of chromosome 18(p11.2)
-
Velagaleti GVN, Harris S, Carpenter NJ, Coldwell J, Say B. Familial deletion of chromosome 18(p11.2). Ann Genet 1996;39:201-4.
-
(1996)
Ann Genet
, vol.39
, pp. 201-204
-
-
Velagaleti, G.V.N.1
Harris, S.2
Carpenter, N.J.3
Coldwell, J.4
Say, B.5
-
123
-
-
0001108518
-
Familial short arm deficiency of chromosome 18 concomitant with arhinencephaly and alopecia congenita
-
Uchida IA, McRae KN, Wang HC, Ray M. Familial short arm deficiency of chromosome 18 concomitant with arhinencephaly and alopecia congenita. Am J Hum Genet 1965;17:410-19.
-
(1965)
Am J Hum Genet
, vol.17
, pp. 410-419
-
-
Uchida, I.A.1
McRae, K.N.2
Wang, H.C.3
Ray, M.4
-
124
-
-
0030900735
-
Molecular characterization of patients with 18q23 deletions
-
Strathdee G, Sutherland R, Jonsson JJ, Sataloff R, Kohonen-Corish M, Grady D, Overhauser J. Molecular characterization of patients with 18q23 deletions. Am J Hum Genet 1997;60:860-8.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 860-868
-
-
Strathdee, G.1
Sutherland, R.2
Jonsson, J.J.3
Sataloff, R.4
Kohonen-Corish, M.5
Grady, D.6
Overhauser, J.7
-
125
-
-
0032901062
-
Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres
-
Slavotinek A, Rosenberg M, Knight S, Gaunt L, Fergusson W, Killoran C, Clayton Smith J, Kingston H, Campbell RH, Flint J, Donnai D, Biesecker L. Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. J Med Genet 1999;36:405-11.
-
(1999)
J Med Genet
, vol.36
, pp. 405-411
-
-
Slavotinek, A.1
Rosenberg, M.2
Knight, S.3
Gaunt, L.4
Fergusson, W.5
Killoran, C.6
Clayton Smith, J.7
Kingston, H.8
Campbell, R.H.9
Flint, J.10
Donnai, D.11
Biesecker, L.12
-
126
-
-
0034521043
-
Cryptic translocation t(5;18) in familial mental retardation
-
Vogels A, Devriendt K, Vermeesch JR, Van Dael R, Marynen P, Dewaele P, Hageman J, Holvoet M, Fryns JP. Cryptic translocation t(5;18) in familial mental retardation. Ann Genet 2000;43:117-23.
-
(2000)
Ann Genet
, vol.43
, pp. 117-123
-
-
Vogels, A.1
Devriendt, K.2
Vermeesch, J.R.3
Van Dael, R.4
Marynen, P.5
Dewaele, P.6
Hageman, J.7
Holvoet, M.8
Fryns, J.P.9
-
127
-
-
0021333507
-
Occurrence of 19p- in an infant with multiple dysmorphic features
-
Hurgoiu V, Suciu S. Occurrence of 19p- in an infant with multiple dysmorphic features. Ann Genet 1984;27:56-7.
-
(1984)
Ann Genet
, vol.27
, pp. 56-57
-
-
Hurgoiu, V.1
Suciu, S.2
-
128
-
-
0032231651
-
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity
-
Gustavsson P, Garelli E, Draptchinskaia N, Ball S, Willig TN, Tentler D, Dianzani I, Punnett HH, Shafer FE, Cario H, Ramenghi U, Glomstein A, Pfeiffer RA, Goringe A, Olivieri NF, Smibert E, Tchernia G, Elinder G, Dahl N. Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity. Am J Hum Genet 1998;63:1388-95.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1388-1395
-
-
Gustavsson, P.1
Garelli, E.2
Draptchinskaia, N.3
Ball, S.4
Willig, T.N.5
Tentler, D.6
Dianzani, I.7
Punnett, H.H.8
Shafer, F.E.9
Cario, H.10
Ramenghi, U.11
Glomstein, A.12
Pfeiffer, R.A.13
Goringe, A.14
Olivieri, N.F.15
Smibert, E.16
Tchernia, G.17
Elinder, G.18
Dahl, N.19
-
129
-
-
0032768765
-
A microdeletion syndrome due to a 3-Mb deletion on 19q13.2 Diamond-Blackfan anemia associated with macrocephaly, hypotonia an psychomotor retardation
-
Cario H, Gustavsson P, Dahl N, Kohne E. A microdeletion syndrome due to a 3-Mb deletion on 19q13.2 Diamond-Blackfan anemia associated with macrocephaly, hypotonia an psychomotor retardation. Clin Genet 1999;55:487-92.
-
(1999)
Clin Genet
, vol.55
, pp. 487-492
-
-
Cario, H.1
Gustavsson, P.2
Dahl, N.3
Kohne, E.4
-
130
-
-
0034014386
-
A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome
-
Tentler D, Gustavsson P, Elinder G, Eklof O, Gordon L, Mandel A, Dahl N. A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome. J Med Genet 2000;37:128-31.
-
(2000)
J Med Genet
, vol.37
, pp. 128-131
-
-
Tentler, D.1
Gustavsson, P.2
Elinder, G.3
Eklof, O.4
Gordon, L.5
Mandel, A.6
Dahl, N.7
-
131
-
-
0032907438
-
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
-
Draptchinskaia N, Gustavsson P, Andersson B, Petterson M, Willig TN, Dianzani I, Ball S, Tchernia G, Klar J, Matsson H, Tentler D, Mohandas N, Carlsson B, Dahl N. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet 1999;21:169-74.
-
(1999)
Nat Genet
, vol.21
, pp. 169-174
-
-
Draptchinskaia, N.1
Gustavsson, P.2
Andersson, B.3
Petterson, M.4
Willig, T.N.5
Dianzani, I.6
Ball, S.7
Tchernia, G.8
Klar, J.9
Matsson, H.10
Tentler, D.11
Mohandas, N.12
Carlsson, B.13
Dahl, N.14
-
133
-
-
0023133743
-
A male infant with holoprosencephaly, associated with ring chromosome 21
-
Aronson DC, Jansweijer MCE, Hoovers JMN, Barth PG. A male infant with holoprosencephaly, associated with ring chromosome 21. Clin Genet 1987;31:48-52.
-
(1987)
Clin Genet
, vol.31
, pp. 48-52
-
-
Aronson, D.C.1
Jansweijer, M.C.E.2
Hoovers, J.M.N.3
Barth, P.G.4
-
134
-
-
0031791686
-
Two 22q telomere deletions serendipitously detected by FISH
-
Precht KS, Lese CM, Spiro RP, Huttenlocher PR, Johnston KM, Baker JC, Christian SL, Kittikamron K, Ledbetter DH. Two 22q telomere deletions serendipitously detected by FISH. J Med Genet 1998;35:939-42.
-
(1998)
J Med Genet
, vol.35
, pp. 939-942
-
-
Precht, K.S.1
Lese, C.M.2
Spiro, R.P.3
Huttenlocher, P.R.4
Johnston, K.M.5
Baker, J.C.6
Christian, S.L.7
Kittikamron, K.8
Ledbetter, D.H.9
-
135
-
-
0037156330
-
No evidence for submicroscopic 22qter deletions in patients with features suggestive for Angelman syndrome
-
De Vries BBA, Tyson J, Winter RM, Malcolm S. No evidence for submicroscopic 22qter deletions in patients with features suggestive for Angelman syndrome. Am J Med Genet 2002;109:117-20.
-
(2002)
Am J Med Genet
, vol.109
, pp. 117-120
-
-
De Vries, B.B.A.1
Tyson, J.2
Winter, R.M.3
Malcolm, S.4
-
136
-
-
0034532865
-
A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome
-
De Vries BBA, Bitner-Glindzicz M, Knight SJL, Tyson J, MacDermot KD, Flint J, Malcolm S, Winter RM. A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome. Clin Genet 2000;58:483-7.
-
(2000)
Clin Genet
, vol.58
, pp. 483-487
-
-
De Vries, B.B.A.1
Bitner-Glindzicz, M.2
Knight, S.J.L.3
Tyson, J.4
MacDermot, K.D.5
Flint, J.6
Malcolm, S.7
Winter, R.M.8
-
137
-
-
0034927366
-
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome
-
Bonaglia MC, Giorda R, Borgatti R, Felisari G, Gagliardi C, Selicorni A, Zuffardi O. Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. Am J Hum Genet 2001;69:261-8.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 261-268
-
-
Bonaglia, M.C.1
Giorda, R.2
Borgatti, R.3
Felisari, G.4
Gagliardi, C.5
Selicorni, A.6
Zuffardi, O.7
-
138
-
-
0024802646
-
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome
-
Ballabio A, Bardoni B, Carrozzo R, Andria G, Bick D, Campell L, Hamel B, Ferguson-Smith MA, Gimelli G, Fraccaro M, Maraschio P, Zuffardi O, Guioli S, Camerino G. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci USA 1989;86:10001-5.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 10001-10005
-
-
Ballabio, A.1
Bardoni, B.2
Carrozzo, R.3
Andria, G.4
Bick, D.5
Campell, L.6
Hamel, B.7
Ferguson-Smith, M.A.8
Gimelli, G.9
Fraccaro, M.10
Maraschio, P.11
Zuffardi, O.12
Guioli, S.13
Camerino, G.14
-
139
-
-
0026895136
-
Deletions and translocations involving the distal short arm of the human X chromosome: Review and hypotheses
-
Ballabio A, Andria G. Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses. Hum Mol Genet 1992;1:211-17.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 211-217
-
-
Ballabio, A.1
Andria, G.2
-
140
-
-
0030940217
-
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
-
Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997;16:54-63.
-
(1997)
Nat Genet
, vol.16
, pp. 54-63
-
-
Rao, E.1
Weiss, B.2
Fukami, M.3
Rump, A.4
Niesler, B.5
Mertz, A.6
Muroya, K.7
Binder, G.8
Kirsch, S.9
Winkelmann, M.10
Nordsiek, G.11
Heinrich, U.12
Breuning, M.H.13
Ranke, M.B.14
Rosenthal, A.15
Ogata, T.16
Rappold, G.A.17
-
141
-
-
17344363774
-
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
-
Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A, Cormier-Daire V. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet 1998;19:67-70.
-
(1998)
Nat Genet
, vol.19
, pp. 67-70
-
-
Belin, V.1
Cusin, V.2
Viot, G.3
Girlich, D.4
Toutain, A.5
Moncla, A.6
Vekemans, M.7
Le Merrer, M.8
Munnich, A.9
Cormier-Daire, V.10
-
142
-
-
0031747158
-
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
-
Shears DJ, Vassal HJ, Goodman FR, Palmer RW, Reardon W, Superti-Furga A, Scambler PJ, Winter RM. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet 1998;19:70-3.
-
(1998)
Nat Genet
, vol.19
, pp. 70-73
-
-
Shears, D.J.1
Vassal, H.J.2
Goodman, F.R.3
Palmer, R.W.4
Reardon, W.5
Superti-Furga, A.6
Scambler, P.J.7
Winter, R.M.8
-
143
-
-
0030778071
-
Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50)
-
Claes S, Vogels A, Holvoet M, Devriendt K, Raeymaekers P, Cassiman JJ, Fryns JP. Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50). Am J Med Genet 1997;73:474-9.
-
(1997)
Am J Med Genet
, vol.73
, pp. 474-479
-
-
Claes, S.1
Vogels, A.2
Holvoet, M.3
Devriendt, K.4
Raeymaekers, P.5
Cassiman, J.J.6
Fryns, J.P.7
-
144
-
-
0034944769
-
Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus
-
Tobias ES, Bryce G, Farmer G, Barton J, Colgan J, Morrison N, Cooke A, Tolmie JT. Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus. J Med Genet 2001;38:466-9.
-
(2001)
J Med Genet
, vol.38
, pp. 466-469
-
-
Tobias, E.S.1
Bryce, G.2
Farmer, G.3
Barton, J.4
Colgan, J.5
Morrison, N.6
Cooke, A.7
Tolmie, J.T.8
-
145
-
-
0032707125
-
Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14)
-
De Vries BBA, Eussen BHJ, Van Diggelen OP, Van der Heide A, Deelen WH, Govaerts LCP, Lindhout D, Wouters CH, Van Hemel JO. Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14). Am J Med Genet 1999;87:189-94.
-
(1999)
Am J Med Genet
, vol.87
, pp. 189-194
-
-
De Vries, B.B.A.1
Eussen, B.H.J.2
Van Diggelen, O.P.3
Van Der Heide, A.4
Deelen, W.H.5
Govaerts, L.C.P.6
Lindhout, D.7
Wouters, C.H.8
Van Hemel, J.O.9
-
146
-
-
0025059366
-
Distal long arm deletions of the X chromosome and ovarian failure
-
Bates A, Howard PJ. Distal long arm deletions of the X chromosome and ovarian failure. J Med Genet 1990;27:722-3.
-
(1990)
J Med Genet
, vol.27
, pp. 722-723
-
-
Bates, A.1
Howard, P.J.2
-
147
-
-
0034046292
-
Perfect endings: A review of subtelomeric probes and their use in clinical diagnosis
-
Knight SJL, Flint J. Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis. J Med Genet 2000;37:401-9.
-
(2000)
J Med Genet
, vol.37
, pp. 401-409
-
-
Knight, S.J.L.1
Flint, J.2
-
148
-
-
0035219817
-
How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation
-
Borgione E, Lo Giudice M, Galesi O, Castiglia L, Failla P, Romano C, Ragusa A, Fichera M. How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation. J Med Genet 2001;38:e1.
-
(2001)
J Med Genet
, vol.38
-
-
Borgione, E.1
Lo Giudice, M.2
Galesi, O.3
Castiglia, L.4
Failla, P.5
Romano, C.6
Ragusa, A.7
Fichera, M.8
-
149
-
-
0033851883
-
An optimized set of human telomere clones for studying telomere integrity and architecture
-
Knight SJL, Lese CM, Precht KS, Kuc J, Ning Y, Lucas S, Regan R, Brenan M, Nicod A, Lawrie NM, Cardy DLN, Nguyen H, Hudson TJ, Tiethman HC, Ledbetter DH, Flint J. An optimized set of human telomere clones for studying telomere integrity and architecture. Am J Hum Genet 2000;67:320-32.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 320-332
-
-
Knight, S.J.L.1
Lese, C.M.2
Precht, K.S.3
Kuc, J.4
Ning, Y.5
Lucas, S.6
Regan, R.7
Brenan, M.8
Nicod, A.9
Lawrie, N.M.10
Cardy, D.L.N.11
Nguyen, H.12
Hudson, T.J.13
Tiethman, H.C.14
Ledbetter, D.H.15
Flint, J.16
-
151
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002;30:e57.
-
(2002)
Nucleic Acids Res
, vol.30
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
Zwijnenburg, D.4
Diepvens, F.5
Pals, G.6
-
152
-
-
18344379676
-
High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization
-
Veltman JA, Schoenmakers EFPM, Eussen BH, Janssen I, Merkx G, van Cheef B, van Ravenswaaij CM, Brunner HG, Smeets D, Geurts van Kessel A. High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. Am J Hum Genet 2002;70:1269-76.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1269-1276
-
-
Veltman, J.A.1
Schoenmakers, E.F.P.M.2
Eussen, B.H.3
Janssen, I.4
Merkx, G.5
Van Cheef, B.6
Van Ravenswaaij, C.M.7
Brunner, H.G.8
Smeets, D.9
Geurts Van Kessel, A.10
-
153
-
-
0033912695
-
Detection of chromosomal aberrations by a whole-genome microsatellite screen
-
Rosenberg MJ, Vaske D, Killoran CE, Ning Y, Wargowski D, Hudgins L, Tifft CJ, Meck J, Blancato JK, Rosenbaum K, Pauli RM, Weber J, Biesecker LG. Detection of chromosomal aberrations by a whole-genome microsatellite screen. Am J Hum Genet 2000;66:419-27.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 419-427
-
-
Rosenberg, M.J.1
Vaske, D.2
Killoran, C.E.3
Ning, Y.4
Wargowski, D.5
Hudgins, L.6
Tifft, C.J.7
Meck, J.8
Blancato, J.K.9
Rosenbaum, K.10
Pauli, R.M.11
Weber, J.12
Biesecker, L.G.13
-
154
-
-
0038214755
-
Multicolor spectral karyotyping of human chromosomes
-
Schrock E, du Manoir S, Veldman T, Schoell B, Wienberg J, Ferguson-Smith MA, Ning Y, Ledbetter DH, Bar-Am I, Soenksen D, Garini Y, Ried T. Multicolor spectral karyotyping of human chromosomes. Science 1996;273:494-7.
-
(1996)
Science
, vol.273
, pp. 494-497
-
-
Schrock, E.1
Du Manoir, S.2
Veldman, T.3
Schoell, B.4
Wienberg, J.5
Ferguson-Smith, M.A.6
Ning, Y.7
Ledbetter, D.H.8
Bar-Am, I.9
Soenksen, D.10
Garini, Y.11
Ried, T.12
-
155
-
-
0029912473
-
Karyotyping human chromosomes by combinatorial multi-fluor FISH
-
Speicher MR, Ballard GS, Ward DC. Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat Genet 1996;12:368-75.
-
(1996)
Nat Genet
, vol.12
, pp. 368-375
-
-
Speicher, M.R.1
Ballard, G.S.2
Ward, D.C.3
-
156
-
-
0033362090
-
Multiplex-FISH for pre- and postnatal diagnostic applications
-
Uhrig S, Schuffenhauer S, Fauth C, Wirtz A, Daumer-Haas C, Apacik C, Cohen M, Muller-Navia J, Cremer T, Murken J, Speicher MR. Multiplex-FISH for pre- and postnatal diagnostic applications. Am J Hum Genet 1999;65:448-62.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 448-462
-
-
Uhrig, S.1
Schuffenhauer, S.2
Fauth, C.3
Wirtz, A.4
Daumer-Haas, C.5
Apacik, C.6
Cohen, M.7
Muller-Navia, J.8
Cremer, T.9
Murken, J.10
Speicher, M.R.11
-
157
-
-
0026771276
-
The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes
-
Saccone S, De Sario A, Della Valle G, Bernardi G. The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes. Proc Natl Acad Sci USA 1992;89:4913-17.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 4913-4917
-
-
Saccone, S.1
De Sario, A.2
Della Valle, G.3
Bernardi, G.4
-
158
-
-
0035877009
-
22q13 deletion syndrome
-
Phelan MC, Rogers RC, Saul RA, Stapleton GA, Sweet K, McDermid H, Shaw SR, Claytor J, Willis J, Kelly DP. 22q13 deletion syndrome. Am J Med Genet 2001;101:91-9.
-
(2001)
Am J Med Genet
, vol.101
, pp. 91-99
-
-
Phelan, M.C.1
Rogers, R.C.2
Saul, R.A.3
Stapleton, G.A.4
Sweet, K.5
McDermid, H.6
Shaw, S.R.7
Claytor, J.8
Willis, J.9
Kelly, D.P.10
-
159
-
-
0002833777
-
Cryptic subtelomeric rearrangements detected by FISH in mentally retarded and dysmorphic patients
-
Viot G, Gosset P, Fert S, Prieur M, Turleau C, Raoul O, De Blois MC, Lyonnet S, Munnich M, Vekemans M. Cryptic subtelomeric rearrangements detected by FISH in mentally retarded and dysmorphic patients. Am J Hum Genet Suppl 1998;63:A10.
-
(1998)
Am J Hum Genet Suppl
, vol.63
-
-
Viot, G.1
Gosset, P.2
Fert, S.3
Prieur, M.4
Turleau, C.5
Raoul, O.6
De Blois, M.C.7
Lyonnet, S.8
Munnich, M.9
Vekemans, M.10
-
160
-
-
0000653421
-
FISH analysis of microaberrations at telameric and subtelomeric regions in chromosomes of children with mental retardation
-
Vorsana SG, Koloti D, Sharonin VO, Soloviev V, Yurov YB. FISH analysis of microaberrations at telameric and subtelomeric regions in chromosomes of children with mental retardation. Am J Hum Genet Suppl 1998;65:A154.
-
(1998)
Am J Hum Genet Suppl
, vol.65
-
-
Vorsana, S.G.1
Koloti, D.2
Sharonin, V.O.3
Soloviev, V.4
Yurov, Y.B.5
-
161
-
-
0000575916
-
Low proportion of subtelomeric rearrangements in a population of patients with mental retardation and dysmorphic features
-
Lamb AN, Lytle CH, Aylsworth AS, Powell CM, Rao KW, Hendrickson M, Carey JC, Opitz JM, Viskochil DH, Leonard CO, Brothman AR, Stephan M, Bartley JA, Hackbarth M, McCarthy D, Proffitt J. Low proportion of subtelomeric rearrangements in a population of patients with mental retardation and dysmorphic features. Am J Hum Genet Suppl 1999;65:A169.
-
(1999)
Am J Hum Genet Suppl
, vol.65
-
-
Lamb, A.N.1
Lytle, C.H.2
Aylsworth, A.S.3
Powell, C.M.4
Rao, K.W.5
Hendrickson, M.6
Carey, J.C.7
Opitz, J.M.8
Viskochil, D.H.9
Leonard, C.O.10
Brothman, A.R.11
Stephan, M.12
Bartley, J.A.13
Hackbarth, M.14
McCarthy, D.15
Proffitt, J.16
-
162
-
-
0035173443
-
Subtelomeric rearrangements: Results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH
-
Joyce CA, Dennis NR, Cooper S, Browne CE. Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH. Hum Genet 2001;109:440-51.
-
(2001)
Hum Genet
, vol.109
, pp. 440-451
-
-
Joyce, C.A.1
Dennis, N.R.2
Cooper, S.3
Browne, C.E.4
-
163
-
-
0036344398
-
Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: The Amsterdam experience
-
Van Karnebeek CDM, Koevoets C, Sluijter S, Bijlsma EK, Smeets DFMC, Redeker EJ, Hennekam RCM, Hoovers JMN. Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience. J Med Genet 2002;39:546-53.
-
(2002)
J Med Genet
, vol.39
, pp. 546-553
-
-
Van Karnebeek, C.D.M.1
Koevoets, C.2
Sluijter, S.3
Bijlsma, E.K.4
Smeets, D.F.M.C.5
Redeker, E.J.6
Hennekam, R.C.M.7
Hoovers, J.M.N.8
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