-
1
-
-
18244367159
-
A study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse telomeric chromosome anomalies
-
Baker E, Hinton L, Callen DF, Altree M, Dobbie A, Eyre HJ, Sutherland GR, Thompson E, Thompson P, Woolatt E, Haan E. 2002. A study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse telomeric chromosome anomalies. Am J Med Genet 107:285-293.
-
(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
Woolatt, E.10
Haan, E.11
-
2
-
-
0033776316
-
Fishing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes
-
Ballif BC, Kashork CD, Shaffer LG. 2000. Fishing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes. Eur J Hum Genet 8:764-770.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 764-770
-
-
Ballif, B.C.1
Kashork, C.D.2
Shaffer, L.G.3
-
3
-
-
0032794675
-
Familial cryptic translocation between chromosomes 2qter and 8qter: Further delineation of the Albright hereditary osteodystrophy-like phenotype
-
Bijlsma EK, Aalfs CM, Sluitjer S, Oude Luttikhuis ME, Trembath RC, Hoovers JM, Hennekam RC. 1999. Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype. J Med Genet 36:604-609.
-
(1999)
J Med Genet
, vol.36
, pp. 604-609
-
-
Bijlsma, E.K.1
Aalfs, C.M.2
Sluitjer, S.3
Oude Luttikhuis, M.E.4
Trembath, R.C.5
Hoovers, J.M.6
Hennekam, R.C.7
-
4
-
-
0002877957
-
An infant with karyotype 46,XX,del(2)(q37) and severe congenital abnormalities
-
Coldwell JG, Gucsavas M, Say B, Carpenter NJ. 1992. An infant with karyotype 46,XX,del(2)(q37) and severe congenital abnormalities. Am J Hum Genet 51:A301.
-
(1992)
Am J Hum Genet
, vol.51
-
-
Coldwell, J.G.1
Gucsavas, M.2
Say, B.3
Carpenter, N.J.4
-
5
-
-
0032833672
-
The plasticity of human telomeres demonstrated by a hypervariable telomere repeat array that is located on some copies of 16p and 16q
-
Coleman J, Baird DM, Royle NJ. 1999. The plasticity of human telomeres demonstrated by a hypervariable telomere repeat array that is located on some copies of 16p and 16q. Hum Mol Genet 8:1637-1646.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1637-1646
-
-
Coleman, J.1
Baird, D.M.2
Royle, N.J.3
-
6
-
-
0029038024
-
Clinical phenotype associated with terminal 2q37 deletion
-
Conrad B, Dewald G, Christensen E, Lopez M, Higgins J, Pierpont ME. 1995. Clinical phenotype associated with terminal 2q37 deletion. Clin Genet 48:134-139.
-
(1995)
Clin Genet
, vol.48
, pp. 134-139
-
-
Conrad, B.1
Dewald, G.2
Christensen, E.3
Lopez, M.4
Higgins, J.5
Pierpont, M.E.6
-
7
-
-
0019496020
-
Structural differences in pericentric inversions; application to a model of risk of recombinants
-
Daniel A. 1981. Structural differences in pericentric inversions; application to a model of risk of recombinants. Hum Genet 56:321-328.
-
(1981)
Hum Genet
, vol.56
, pp. 321-328
-
-
Daniel, A.1
-
8
-
-
0024412088
-
Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements. Data from United States and Canadian laboratories
-
Daniel A, Hook EB, Wulf G. 1989. Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements. Data from United States and Canadian laboratories. Am J Med Genet 33:14-53.
-
(1989)
Am J Med Genet
, vol.33
, pp. 14-53
-
-
Daniel, A.1
Hook, E.B.2
Wulf, G.3
-
9
-
-
0035083965
-
Submicroscopic subtelomeric 1qter deletions: A recognizable phenotype
-
De Vries BBA, Knight SJL, Homfrays T, Smithson SF, Flint J, Winter RM. 2001a. Submicroscopic subtelomeric 1qter deletions: a recognizable phenotype. J Med Genet 38:175-178.
-
(2001)
J Med Genet
, vol.38
, pp. 175-178
-
-
De Vries, B.B.A.1
Knight, S.J.L.2
Homfrays, T.3
Smithson, S.F.4
Flint, J.5
Winter, R.M.6
-
10
-
-
0035083998
-
Clinical studies on submicroscopic subtelomeric rearrangements: A checklist. 2001
-
De Vries BB, White SM, Knight SJ, Regan R, Homfray T, Young ID, Super M, McKeown C, Splitt M, Quarrell OW, Trainer AH, Niermeijer MF, Malcolm S, Flint J, Hurst JA, Winter RM. 2001b. Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. 2001. J Med Genet 38:145-150.
-
(2001)
J Med Genet
, vol.38
, pp. 145-150
-
-
De Vries, B.B.1
White, S.M.2
Knight, S.J.3
Regan, R.4
Homfray, T.5
Young, I.D.6
Super, M.7
McKeown, C.8
Splitt, M.9
Quarrell, O.W.10
Trainer, A.H.11
Niermeijer, M.F.12
Malcolm, S.13
Flint, J.14
Hurst, J.A.15
Winter, R.M.16
-
11
-
-
0028073577
-
Small terminal deletions of the long arm of chromosome 2: Two new cases
-
Fisher AM, Ellis KH, Browne CE, Barber JC, Barker M, Kennedy CR, Foley H, Patton MA. 1994. Small terminal deletions of the long arm of chromosome 2: two new cases. Am J Med Genet 53:366-369.
-
(1994)
Am J Med Genet
, vol.53
, pp. 366-369
-
-
Fisher, A.M.1
Ellis, K.H.2
Browne, C.E.3
Barber, J.C.4
Barker, M.5
Kennedy, C.R.6
Foley, H.7
Patton, M.A.8
-
12
-
-
0028798545
-
The detection of subtelomeric chromosomal rearrangements in ideopathic mental retardation
-
Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, McDermid HE. 1995. The detection of subtelomeric chromosomal rearrangements in ideopathic mental retardation. Nat Genet 9:132-140.
-
(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
-
13
-
-
0043055498
-
Deletion of chromosomal region 2q37: Clinical phenotype in eight cases
-
Friedman BD, Gorski JL, Hall BD, Brothman A, Carey JC, Flejter WL. 1997. Deletion of chromosomal region 2q37: Clinical phenotype in eight cases. Am J Hum Genet 61:A98.
-
(1997)
Am J Hum Genet
, vol.61
-
-
Friedman, B.D.1
Gorski, J.L.2
Hall, B.D.3
Brothman, A.4
Carey, J.C.5
Flejter, W.L.6
-
14
-
-
0032586740
-
Deletion of chromosome 2q37 and autism: A distinct subtype?
-
Ghaziuddin M, Burmeister M. 1999. Deletion of chromosome 2q37 and autism: a distinct subtype? J Autism Dev Disord 29:259-263.
-
(1999)
J Autism Dev Disord
, vol.29
, pp. 259-263
-
-
Ghaziuddin, M.1
Burmeister, M.2
-
15
-
-
0024405541
-
Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37)
-
Gorski JL, Cox BA, Kyine M, Uhlmann W, Glover TW. 1989. Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37). Am J Med Genet 32:350-352.
-
(1989)
Am J Med Genet
, vol.32
, pp. 350-352
-
-
Gorski, J.L.1
Cox, B.A.2
Kyine, M.3
Uhlmann, W.4
Glover, T.W.5
-
16
-
-
0342513851
-
Microdeletion of chromosome 2qter in two unrelated children with characteristic facies and mental retardation
-
abstract 1571
-
Haag M, Gilfillan T, Berry R, Hull C, Steward J, Manchester DK, McGavaran L. 1993. Microdeletion of chromosome 2qter in two unrelated children with characteristic facies and mental retardation. Am J Hum Genet 53 (Suppl): abstract 1571.
-
(1993)
Am J Hum Genet
, vol.53
, Issue.SUPPL.
-
-
Haag, M.1
Gilfillan, T.2
Berry, R.3
Hull, C.4
Steward, J.5
Manchester, D.K.6
McGavaran, L.7
-
17
-
-
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. 1999. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354:1676-1681.
-
(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
-
18
-
-
0042053768
-
A patient with a minute terminal deletion of chromosome 2 long arm
-
Lamb AN, Roche M, Kirkman HN, Rao KW, Aylsworth AS. 1990. A patient with a minute terminal deletion of chromosome 2 long arm. Am J Hum Genet 47:A32.
-
(1990)
Am J Hum Genet
, vol.47
-
-
Lamb, A.N.1
Roche, M.2
Kirkman, H.N.3
Rao, K.W.4
Aylsworth, A.S.5
-
19
-
-
0026733359
-
Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy
-
Lin S-P, Petty EM, Gibson LH, Inserra J, Seashore MR, Yang-Feng TL. 1992. Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy. Am J Med Genet 44:500-502.
-
(1992)
Am J Med Genet
, vol.44
, pp. 500-502
-
-
Lin, S.-P.1
Petty, E.M.2
Gibson, L.H.3
Inserra, J.4
Seashore, M.R.5
Yang-Feng, T.L.6
-
20
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acids Res 16:1215.
-
(1988)
Nucl Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
21
-
-
0041552468
-
Terminal deletions of 2q: Is there a consistent phenotype?
-
Abstracts of the British Medical Genetic Conference, Nottingham, UK, September, 1992
-
Oley CA, Wolstenholme J, Coulthard S, Brummitt JA, English CJ, Cross IA, Read AP. 1992. Terminal deletions of 2q: is there a consistent phenotype? Abstracts of the British Medical Genetic Conference, Nottingham, UK, September, 1992. J Med Genet 30:338.
-
(1992)
J Med Genet
, vol.30
, pp. 338
-
-
Oley, C.A.1
Wolstenholme, J.2
Coulthard, S.3
Brummitt, J.A.4
English, C.J.5
Cross, I.A.6
Read, A.P.7
-
22
-
-
0029080844
-
Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals
-
Phelan MC, Rogers RC, Clarkson KB, Bowyer FP, Levine MA, Estabrooks LL, Severson MC, Dobyns WB. 1995. Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals. Am J Med Genet 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
Estabrooks, L.L.6
Severson, M.C.7
Dobyns, W.B.8
-
23
-
-
0030916590
-
RDCI, the vasoactive intestinal peptide receptor: A candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37
-
Power MM, James RS, Barber JC, Fisher AM, Wood PJ, Leatherdale BA, Flanagan DE, Hatchwell E. 1997. RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37. J Med Genet 34:287-290.
-
(1997)
J Med Genet
, vol.34
, pp. 287-290
-
-
Power, M.M.1
James, R.S.2
Barber, J.C.3
Fisher, A.M.4
Wood, P.J.5
Leatherdale, B.A.6
Flanagan, D.E.7
Hatchwell, E.8
-
24
-
-
0032964922
-
Microdeletion of chromosome subband 2q37.3 in two patients with abnormal situs viscerum
-
Reddy KS, Flannery D, Farrer RJ. 1999. Microdeletion of chromosome subband 2q37.3 in two patients with abnormal situs viscerum. Am J Med Genet 84:460-468.
-
(1999)
Am J Med Genet
, vol.84
, pp. 460-468
-
-
Reddy, K.S.1
Flannery, D.2
Farrer, R.J.3
-
27
-
-
0001642683
-
Telomere attachment of chromosomes. Some genetical and cytological consequences
-
Sved JA. 1966. Telomere attachment of chromosomes. Some genetical and cytological consequences. Genetics 53:747-756.
-
(1966)
Genetics
, vol.53
, pp. 747-756
-
-
Sved, J.A.1
-
28
-
-
0031981781
-
Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome
-
Viot-Szoboszlai G, Amiel J, Doz F, Prieur M, Couturier J, Zucker JN, Henry I, Munnich A, Vekemans M, Lyonnet S. 1998. Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome. Clin Genet 53:278-280.
-
(1998)
Clin Genet
, vol.53
, pp. 278-280
-
-
Viot-Szoboszlai, G.1
Amiel, J.2
Doz, F.3
Prieur, M.4
Couturier, J.5
Zucker, J.N.6
Henry, I.7
Munnich, A.8
Vekemans, M.9
Lyonnet, S.10
-
29
-
-
0027976080
-
Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37)
-
Wang T-H, Johnston K, Hsieh C-L, Dennery PA. 1994. Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37). Am J Med Genet 49:399-401.
-
(1994)
Am J Med Genet
, vol.49
, pp. 399-401
-
-
Wang, T.-H.1
Johnston, K.2
Hsieh, C.-L.3
Dennery, P.A.4
-
30
-
-
33646214591
-
Detection of submicroscopic subtelomeric chromosome translocations: A new case study
-
Warburton P, Mohammed S, Mackie Ogilvie C. 2000. Detection of submicroscopic subtelomeric chromosome translocations: a new case study. Am J Med Genet 42:747-750.
-
(2000)
Am J Med Genet
, vol.42
, pp. 747-750
-
-
Warburton, P.1
Mohammed, S.2
Mackie Ogilvie, C.3
-
31
-
-
0028813978
-
Brachydactyly and mental retardation: An Albright hereditary osteodystrophy-like syndrome localized to 2q37
-
Wilson LC, Leverton K, Oude Luttikhuis ME, Oley CA, Flint J, Wolstenholme J, Duckett DP, Barrow MA, Leonard JV, Read AP. 1995. Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. Am J Hum Genet 56:400-407.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 400-407
-
-
Wilson, L.C.1
Leverton, K.2
Oude Luttikhuis, M.E.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
-
32
-
-
0032898935
-
Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions
-
Wu Y-Q, Heilstedt HA, Bedell JA, May KM, Starkey DE, McPherson JD, Shapira SK, Shaffer LG. 1999. Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions. Hum Mol Genet 8:313-321.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 313-321
-
-
Wu, Y.-Q.1
Heilstedt, 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
-
33
-
-
0031562694
-
Telomere-telomere interactions and candidate telomere binding protein(s) in mammalian sperm cells
-
Zalensky AO, Tomilin NV, Zalenskaya IA, Bradbury EM. 1997. Telomere-telomere interactions and candidate telomere binding protein(s) in mammalian sperm cells. Exp Cell Res 232:29-41.
-
(1997)
Exp Cell Res
, vol.232
, pp. 29-41
-
-
Zalensky, A.O.1
Tomilin, N.V.2
Zalenskaya, I.A.3
Bradbury, E.M.4
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