-
1
-
-
0034513406
-
Molecular mechanisms for constitutional chromosomal rearrangements in humans
-
L.G. Shaffer, and J.R. Lupski Molecular mechanisms for constitutional chromosomal rearrangements in humans Annu Rev Genet 34 2000 297 329
-
(2000)
Annu Rev Genet
, vol.34
, pp. 297-329
-
-
Shaffer, L.G.1
Lupski, J.R.2
-
2
-
-
0026771276
-
The highest gene concentrations in the human genome are in the telomeric bands of metaphase chromosomes
-
S. Saccone, A. De Sario, G.D. Valle, and G. Bernardi The highest gene concentrations in the human genome are in the telomeric bands of metaphase chromosomes Proc Natl Acad Sci USA 89 1992 4913 4917
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 4913-4917
-
-
Saccone, S.1
De Sario, A.2
Valle, G.D.3
Bernardi, G.4
-
3
-
-
0030960829
-
Development and clinical application of an innovative fluorescence in situ hybridisation technique which detects submicroscopic rearrangements involving telomeres
-
S.J. Knight, S.W. Horsley, R. Regan, N.M. Lawrie, E.J. Maher, and D.L. Cardy Development and clinical application of an innovative fluorescence in situ hybridisation technique which detects submicroscopic rearrangements involving telomeres Eur J Hum Genet 5 1997 1 8
-
(1997)
Eur J Hum Genet
, vol.5
, pp. 1-8
-
-
Knight, S.J.1
Horsley, S.W.2
Regan, R.3
Lawrie, N.M.4
Maher, E.J.5
Cardy, D.L.6
-
4
-
-
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
-
F. Giraudeau, L. Taine, V. Biancalana, B. Delobel, H. Journel, and C. Missirian 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 38 2001 121 125
-
(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
-
6
-
-
0029817911
-
Monosomy 1p36.31-33→pter due to a paternal reciprocal translocation: Prognostic significance of FISH analysis
-
E. Blennow, T.H. Bui, A. Wallin, and P. Kogner Monosomy 1p36.31-33→pter due to a paternal reciprocal translocation: prognostic significance of FISH analysis Am J Med Genet 65 1996 60 67
-
(1996)
Am J Med Genet
, vol.65
, pp. 60-67
-
-
Blennow, E.1
Bui, T.H.2
Wallin, A.3
Kogner, P.4
-
7
-
-
0030741203
-
Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son: Cytogenetic and FISH studies using band-specific painting probes generated by chromosome microdissection
-
Z. Chen, T.A. Grebe, X.Y. Guan, M. Notohamiprodjo, P.J. Nutting, and J.F. Stone Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son: cytogenetic and FISH studies using band-specific painting probes generated by chromosome microdissection Am J Med Genet 71 1997 160 166
-
(1997)
Am J Med Genet
, vol.71
, pp. 160-166
-
-
Chen, Z.1
Grebe, T.A.2
Guan, X.Y.3
Notohamiprodjo, M.4
Nutting, P.J.5
Stone, J.F.6
-
8
-
-
0342968044
-
Small terminal deletion of chromosome 1 short arm in an infant with multiple anomalies: Confirmation by in situ hybridisation of probe p1-79
-
R.E. Magenis, R. Sheehy, D. Lacey, M.G. Brown, and M. Litt Small terminal deletion of chromosome 1 short arm in an infant with multiple anomalies: confirmation by in situ hybridisation of probe p1-79 Am J Hum Genet 41 1987 A130
-
(1987)
Am J Hum Genet
, vol.41
, pp. 130
-
-
Magenis, R.E.1
Sheehy, R.2
Lacey, D.3
Brown, M.G.4
Litt, M.5
-
9
-
-
0028861983
-
Partial monosomy of chromosome 1p36.3: Characterisation of the critical region and delineation of a syndrome
-
O. Reish, S.A. Berry, and B. Hirsch Partial monosomy of chromosome 1p36.3: characterisation of the critical region and delineation of a syndrome Am J Med Genet 59 1995 467 475
-
(1995)
Am J Med Genet
, vol.59
, pp. 467-475
-
-
Reish, O.1
Berry, S.A.2
Hirsch, B.3
-
10
-
-
0029115296
-
Chromosome1p terminal deletion: Report of new findings and confirmation of two characteristic phenotypes
-
K.M. Keppler-Noreuil, A.J. Carroll, W.H. Finley, and S.L. Rutledge Chromosome1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes J Med Genet 32 1995 619 622
-
(1995)
J Med Genet
, vol.32
, pp. 619-622
-
-
Keppler-Noreuil, K.M.1
Carroll, A.J.2
Finley, W.H.3
Rutledge, S.L.4
-
11
-
-
0343839079
-
Phenotypes associated with terminal deletion of the short arm of chromosome1
-
C.J. Sandlin, B.S. Dodd, K.W. Dumars, J.A. Bartley, R. Bernstein, and A. Lamb Phenotypes associated with terminal deletion of the short arm of chromosome1 Am J Hum Genet 57 1995 A125
-
(1995)
Am J Hum Genet
, vol.57
, pp. 125
-
-
Sandlin, C.J.1
Dodd, B.S.2
Dumars, K.W.3
Bartley, J.A.4
Bernstein, R.5
Lamb, A.6
-
12
-
-
0030962383
-
Molecular cytogenetic detection of a deletion of 1p36.3
-
F. Giraudeau, D. Aubert, I. Young, S.W. Horsley, S.J. Knight, and L. Kearney Molecular cytogenetic detection of a deletion of 1p36.3 J Med Genet 34 1997 314 317
-
(1997)
J Med Genet
, vol.34
, pp. 314-317
-
-
Giraudeau, F.1
Aubert, D.2
Young, I.3
Horsley, S.W.4
Knight, S.J.5
Kearney, L.6
-
13
-
-
0030870848
-
Chromosome 1p36 deletions: The clinical phenotype and molecular characterisation of a common newly delineated syndrome
-
S.K. Shapira, C. McCaskill, H. Northrup, A.S. Spikes, F.F.B. Elder, and V.R. Sutton Chromosome 1p36 deletions: the clinical phenotype and molecular characterisation of a common newly delineated syndrome Am J Hum Genet 61 1997 642 650
-
(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
-
14
-
-
0030958923
-
Mosaicism for deletion 1p36.33 in a patient with obesity and hyperphagia
-
E.A. Eugster, S.A. Berry, and B. Hirsch Mosaicism for deletion 1p36.33 in a patient with obesity and hyperphagia Am J Med Genet 70 1997 409 412
-
(1997)
Am J Med Genet
, vol.70
, pp. 409-412
-
-
Eugster, E.A.1
Berry, S.A.2
Hirsch, B.3
-
15
-
-
0033613986
-
Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes
-
M. Riegel, C. Castellan, D. Balmer, L. Brecevic, and A. Schinzel Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes Am J Med Genet 82 1999 249 253
-
(1999)
Am J Med Genet
, vol.82
, pp. 249-253
-
-
Riegel, M.1
Castellan, C.2
Balmer, D.3
Brecevic, L.4
Schinzel, A.5
-
16
-
-
0036151084
-
Monosomy 1p36 - A recently delineated, clinically recognizable syndrome
-
M. Zenker, O. Rittinger, K.P. Grosse, M.R. Speicher, J. Kraus, and A. Rauch Monosomy 1p36 - a recently delineated, clinically recognizable syndrome Clin Dysmorph 11 2002 43 48
-
(2002)
Clin Dysmorph
, vol.11
, pp. 43-48
-
-
Zenker, M.1
Rittinger, O.2
Grosse, K.P.3
Speicher, M.R.4
Kraus, J.5
Rauch, A.6
-
17
-
-
0038406165
-
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterisation of the syndrome
-
H.A. Heilstedt, B.C. Ballif, L.A. Howard, R.A. Lewis, S. Stal, and C.D. Kashork Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterisation of the syndrome Am J Hum Genet 72 2003 1200 1212
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1200-1212
-
-
Heilstedt, H.A.1
Ballif, B.C.2
Howard, L.A.3
Lewis, R.A.4
Stal, S.5
Kashork, C.D.6
-
19
-
-
0034057704
-
Neurodevelopmental profile of a new dysmorphic syndrome associated with submicroscopic partial deletion of 1p36.3
-
E. Knight-Jones, S. Knight, H. Heussler, R. Regan, J. Flint, and K. Martin Neurodevelopmental profile of a new dysmorphic syndrome associated with submicroscopic partial deletion of 1p36.3 Dev Med Child Neurol 42 2000 201 206
-
(2000)
Dev Med Child Neurol
, vol.42
, pp. 201-206
-
-
Knight-Jones, E.1
Knight, S.2
Heussler, H.3
Regan, R.4
Flint, J.5
Martin, K.6
-
20
-
-
0009790898
-
1p deletion syndrome: A common, important and often missed cause of developmental delay/mental retardation
-
A. Battaglia, D.H. Viskochil, S.O. Lewin, M. Bamshad, Z. Chen, and A.N. Lamb 1p deletion syndrome: a common, important and often missed cause of developmental delay/mental retardation Am J Hum Genet 69 2001 193
-
(2001)
Am J Hum Genet
, vol.69
, pp. 193
-
-
Battaglia, A.1
Viskochil, D.H.2
Lewin, S.O.3
Bamshad, M.4
Chen, Z.5
Lamb, A.N.6
-
21
-
-
32744455560
-
1p deletion syndrome: Further characterisation of a common, important and often missed cause of developmental delay/mental retardation
-
in press.
-
Battaglia A, Viskochil DH, Lewin SO, Bamshad M, Chen Z, Palumbos JP, et al. 1p deletion syndrome: further characterisation of a common, important and often missed cause of developmental delay/mental retardation. Eur J Hum Genet; in press.
-
Eur J Hum Genet
-
-
Battaglia, A.1
Viskochil, D.H.2
Lewin, S.O.3
Bamshad, M.4
Chen, Z.5
Palumbos, J.P.6
-
22
-
-
22244434476
-
1p deletion syndrome: Further clinical characterisation of a common, important and often missed cause of developmental delay/mental retardation
-
Battaglia A, Viskochil DH, Lewin SO, Bamshad M, Chen Z, Palumbos JP, et al. 1p deletion syndrome: further clinical characterisation of a common, important and often missed cause of developmental delay/mental retardation. Proceed Greenwood Genet Ctr 2004;23:140-1.
-
(2004)
Proceed Greenwood Genet Ctr
, vol.23
, pp. 140-141
-
-
Battaglia, A.1
Viskochil, D.H.2
Lewin, S.O.3
Bamshad, M.4
Chen, Z.5
Palumbos, J.P.6
-
23
-
-
0032899034
-
Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature
-
L. Faivre, N. Morichon-Delvallez, G. Vior, J. Martinovic, M.P. Pinson, and J.P. Aubry Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature Prenat Diagn 19 1999 49 53
-
(1999)
Prenat Diagn
, vol.19
, pp. 49-53
-
-
Faivre, L.1
Morichon-Delvallez, N.2
Vior, G.3
Martinovic, J.4
Pinson, M.P.5
Aubry, J.P.6
-
25
-
-
0019217574
-
The ascertainment and implications of an unbalanced translocation in the neonate: Familial 1:15 translocation
-
D. Hain, M. Leversha, and N. Campbell The ascertainment and implications of an unbalanced translocation in the neonate: familial 1:15 translocation Aust Paediatric J 16 1980 196 200
-
(1980)
Aust Paediatric J
, vol.16
, pp. 196-200
-
-
Hain, D.1
Leversha, M.2
Campbell, N.3
-
26
-
-
0027476712
-
Constitutional 1p36 deletion in a child with neuroblastoma
-
J.A. Biegel, P.S. White, and H.N. Marshall Constitutional 1p36 deletion in a child with neuroblastoma Am J Hum Genet 52 1993 176 182
-
(1993)
Am J Hum Genet
, vol.52
, pp. 176-182
-
-
Biegel, J.A.1
White, P.S.2
Marshall, H.N.3
-
27
-
-
0032901062
-
Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres
-
A. Slavotinek, M. Rosenberg, S. Knight, L. Gaunt, W. Fergusson, and C. Killoran Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres J Med Genet 36 1999 405 411
-
(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
-
29
-
-
0032898935
-
Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions
-
Y.Q. Wu, H.A. Heilstedt, J.A. Bedell, K.M. May, D.E. Starkey, and J.D. McPherson Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions Hum Mol Genet 8 1999 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
-
31
-
-
0034785511
-
Loss of the potassium channel β-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome
-
H.A. Heilstedt, D.L. Burgess, A.E. Anderson, A. Chedrawi, B. Tharp, and O. Lee Loss of the potassium channel β-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome Epilepsia 42 2001 1103 1111
-
(2001)
Epilepsia
, vol.42
, pp. 1103-1111
-
-
Heilstedt, H.A.1
Burgess, D.L.2
Anderson, A.E.3
Chedrawi, A.4
Tharp, B.5
Lee, O.6
|