-
1
-
-
0015788965
-
Deletion of the short arm of chromosome 9 (46,9p-): A new deletion syndrome
-
Alfi O, Donnell GN, Crandall BF, Derencenyi A, Menon R (1973) Deletion of the short arm of chromosome 9 (46,9p-): a new deletion syndrome. Ann Genet 16:17-22
-
(1973)
Ann Genet
, vol.16
, pp. 17-22
-
-
Alfi, O.1
Donnell, G.N.2
Crandall, B.F.3
Derencenyi, A.4
Menon, R.5
-
2
-
-
0008529589
-
Chromosome breakage in Prader-Willi and Angelman syndrome deletions may involve recombination between a repeat at the proximal and distal breakpoints
-
Amos-Landgraf J, Gottlieb W, Rogan PK, Nicholls RD (1994) Chromosome breakage in Prader-Willi and Angelman syndrome deletions may involve recombination between a repeat at the proximal and distal breakpoints. Am J Hum Genet Suppl 55:A38
-
(1994)
Am J Hum Genet Suppl
, vol.55
-
-
Amos-Landgraf, J.1
Gottlieb, W.2
Rogan, P.K.3
Nicholls, R.D.4
-
3
-
-
0027316087
-
Deletion 9p and sex reversal
-
Bennett CP, Docherty Z, Robb SA, Ramani P, Hawkins JR, Grant D (1993) Deletion 9p and sex reversal. J Med Genet 30:518-520
-
(1993)
J Med Genet
, vol.30
, pp. 518-520
-
-
Bennett, C.P.1
Docherty, Z.2
Robb, S.A.3
Ramani, P.4
Hawkins, J.R.5
Grant, D.6
-
4
-
-
0017056298
-
Deletion in the short arm of chromosome 9 from a subject with congenital cerebral maldevelopment
-
Breg WR, Aronson MM, Hill R, Green AE, Coriell LL (1976) Deletion in the short arm of chromosome 9 from a subject with congenital cerebral maldevelopment. Cytogenet Cell Genet 17:296-297
-
(1976)
Cytogenet Cell Genet
, vol.17
, pp. 296-297
-
-
Breg, W.R.1
Aronson, M.M.2
Hill, R.3
Green, A.E.4
Coriell, L.L.5
-
5
-
-
0027402372
-
Preliminary definition of a "critical region" of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature
-
Brown S, Gersen S, Anyane-Yeboa K, Warburton D (1993) Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am J Med Genet 45:52-59
-
(1993)
Am J Med Genet
, vol.45
, pp. 52-59
-
-
Brown, S.1
Gersen, S.2
Anyane-Yeboa, K.3
Warburton, D.4
-
6
-
-
0028982746
-
The 13q syndrome: The molecular definition of a critical deletion region in band 13q32
-
Brown S, Russo J, Chitayat D, Warburton D (1995) The 13q syndrome: the molecular definition of a critical deletion region in band 13q32. Am J Hum Genet 57:859-866
-
(1995)
Am J Hum Genet
, vol.57
, pp. 859-866
-
-
Brown, S.1
Russo, J.2
Chitayat, D.3
Warburton, D.4
-
7
-
-
0028939902
-
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15
-
Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz, S, Nicholls RD, Horsthemke B (1995) Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 9:395-400
-
(1995)
Nat Genet
, vol.9
, pp. 395-400
-
-
Buiting, K.1
Saitoh, S.2
Gross, S.3
Dittrich, B.4
Schwartz, S.5
Nicholls, R.D.6
Horsthemke, B.7
-
8
-
-
0024373430
-
Nonketotic hyperglycemia in a patient with the 9p-syndrome
-
Burton BK, Pettenati MJ, Block SM, Bensen J, Roach ES (1989) Nonketotic hyperglycemia in a patient with the 9p-syndrome. Am J Med Genet 32:504-505
-
(1989)
Am J Med Genet
, vol.32
, pp. 504-505
-
-
Burton, B.K.1
Pettenati, M.J.2
Block, S.M.3
Bensen, J.4
Roach, E.S.5
-
9
-
-
0030881588
-
Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
-
Chen KS, Manian P, Kocuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, et al (1997) Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet 17:154-163
-
(1997)
Nat Genet
, vol.17
, pp. 154-163
-
-
Chen, K.S.1
Manian, P.2
Kocuth, T.3
Potocki, L.4
Zhao, Q.5
Chinault, A.C.6
Lee, C.C.7
-
10
-
-
0029011991
-
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients
-
Christian SL, Robinson WP, Huang B, Mutirangura A, Line MR, Nakao M, Surti U, et al (1995) Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet 57:40-48
-
(1995)
Am J Hum Genet
, vol.57
, pp. 40-48
-
-
Christian, S.L.1
Robinson, W.P.2
Huang, B.3
Mutirangura, A.4
Line, M.R.5
Nakao, M.6
Surti, U.7
-
11
-
-
0028947055
-
Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features
-
Church DM, Bengtsson U, Nielsen KV, Wasmuth JJ, Niebuhr E (1995) Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features. Am J Hum Genet 56:1162-1172
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1162-1172
-
-
Church, D.M.1
Bengtsson, U.2
Nielsen, K.V.3
Wasmuth, J.J.4
Niebuhr, E.5
-
12
-
-
0027359791
-
Physical mapping by FISH of the DiGeorge Critical Region (DGCR): Involvement of the region in familial cases
-
Desmaze C, Prieur M, Amblard F, Aïkem M, LeDeist F, Demczuk S, Zucman J, et al (1993) Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases. Am J Hum Genet 53:1239-1249
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1239-1249
-
-
Desmaze, C.1
Prieur, M.2
Amblard, F.3
Aïkem, M.4
LeDeist, F.5
Demczuk, S.6
Zucman, J.7
-
13
-
-
0027486966
-
Lissencephaly: A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13
-
Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH (1993) Lissencephaly: a human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA 270:2838-2842
-
(1993)
JAMA
, vol.270
, pp. 2838-2842
-
-
Dobyns, W.B.1
Reiner, O.2
Carrozzo, R.3
Ledbetter, D.H.4
-
14
-
-
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, et al (1995) Summary of the 1993 ASHG ancillary meeting "Recent Research on Chromosome 4p Syndromes and Genes." Am J Med Genet 55:453-458
-
(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
-
15
-
-
0023734622
-
Eleven new cases of del(9p) and features from 80 cases
-
Huret JL, Leonard C, Forestier B, Rethore MO, Lejeune J (1988) Eleven new cases of del(9p) and features from 80 cases. J Med Genet 25:74-749
-
(1988)
J Med Genet
, vol.25
, pp. 74-749
-
-
Huret, J.L.1
Leonard, C.2
Forestier, B.3
Rethore, M.O.4
Lejeune, J.5
-
16
-
-
0021153338
-
Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high resolution chromosome banding
-
Ikeuchi T (1984) Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high resolution chromosome banding. Cytogenet Cell Genet 38:56-61
-
(1984)
Cytogenet Cell Genet
, vol.38
, pp. 56-61
-
-
Ikeuchi, T.1
-
17
-
-
0029978246
-
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients
-
Juyal RC, Figuera LE, Hange X, Elsea SH, Lupski JR, Greenberg F, Baldini A, et al (1996) Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet 58:998-1007
-
(1996)
Am J Hum Genet
, vol.58
, pp. 998-1007
-
-
Juyal, R.C.1
Figuera, L.E.2
Hange, X.3
Elsea, S.H.4
Lupski, J.R.5
Greenberg, F.6
Baldini, A.7
-
18
-
-
0029999248
-
Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot
-
Kiyosawa H, Chance PF (1996) Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot. Hum Mol Genet 5:745-753
-
(1996)
Hum Mol Genet
, vol.5
, pp. 745-753
-
-
Kiyosawa, H.1
Chance, P.F.2
-
19
-
-
0028205957
-
Molecular cytogenetic analysis of inv dup(15) chromosomes using probes specific for the Prader-Willi/Angelman syndrome region: Clinical implications
-
Leana-Cox J, Jenkins L, Palmer CG, Plattner R, Sheppard L, Fletjer WL, Zackowski J, et al (1994) Molecular cytogenetic analysis of inv dup(15) chromosomes using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications. Am J Hum Genet 54:748-756
-
(1994)
Am J Hum Genet
, vol.54
, pp. 748-756
-
-
Leana-Cox, J.1
Jenkins, L.2
Palmer, C.G.3
Plattner, R.4
Sheppard, L.5
Fletjer, W.L.6
Zackowski, J.7
-
20
-
-
0029162269
-
Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis
-
Ledbetter DH, Engel E (1995) Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 4:1757-1764
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1757-1764
-
-
Ledbetter, D.H.1
Engel, E.2
-
21
-
-
0028943334
-
Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region
-
Lindsay EA, Greenberg F, Shaffer LG, Shapira SK, Scambler PJ, Baldini A (1995) Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region. Am J Med Genet 56:191-197
-
(1995)
Am J Med Genet
, vol.56
, pp. 191-197
-
-
Lindsay, E.A.1
Greenberg, F.2
Shaffer, L.G.3
Shapira, S.K.4
Scambler, P.J.5
Baldini, A.6
-
22
-
-
0029656003
-
Chromosomal duplications in bacteria, fruit flies, and humans
-
Lupski JR, Roth JR, Weinstock GM (1996) Chromosomal duplications in bacteria, fruit flies, and humans. Am J Hum Genet 58:21-27
-
(1996)
Am J Hum Genet
, vol.58
, pp. 21-27
-
-
Lupski, J.R.1
Roth, J.R.2
Weinstock, G.M.3
-
23
-
-
0028999447
-
Parental origin of de novo chromosome 9 deletions in del(9p) syndrome
-
Micale MA, Haren JM, Conroy JM, Crowe CA, Schwartz S (1995) Parental origin of de novo chromosome 9 deletions in del(9p) syndrome. Am J Med Genet 57:79-81
-
(1995)
Am J Med Genet
, vol.57
, pp. 79-81
-
-
Micale, M.A.1
Haren, J.M.2
Conroy, J.M.3
Crowe, C.A.4
Schwartz, S.5
-
24
-
-
0027474137
-
Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndrome: A review
-
Nicholls RD (1993) Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndrome: a review. Am J Med Genet 46:16-25
-
(1993)
Am J Med Genet
, vol.46
, pp. 16-25
-
-
Nicholls, R.D.1
-
25
-
-
0028910140
-
Clinical and molecular characterization of patients with distal 11q deletions
-
Penny LA, Dell'Aquila M, Jones MC, Bergoffen J, Cunniff C, Fryns J-P, Grate E, et al (1995) Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet 56:676-683
-
(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
Grate, E.7
-
26
-
-
0028987222
-
Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridization and a PCR assay identifying a dinucleotide repeat polymorphism
-
Pilz, DT, Dalton A, Long A, Jaspan T, Maltby EL, Quarrell OWJ (1995) Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridization and a PCR assay identifying a dinucleotide repeat polymorphism. J Med Genet 32:275-278
-
(1995)
J Med Genet
, vol.32
, pp. 275-278
-
-
Pilz, D.T.1
Dalton, A.2
Long, A.3
Jaspan, T.4
Maltby, E.L.5
Quarrell, O.W.J.6
-
27
-
-
0343319476
-
Fluorescence in situ hybridization with human chromosome-specific libraries: Detection of trisomy 21 and translocations of chromosome 4
-
Pinkel D, Landegent J, Collins C, Fusco J, Segraves R, Lucas J, Gray JW (1988) Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci USA 85:9138-9142
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 9138-9142
-
-
Pinkel, D.1
Landegent, J.2
Collins, C.3
Fusco, J.4
Segraves, R.5
Lucas, J.6
Gray, J.W.7
-
28
-
-
0022446922
-
Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization
-
Pinkel D, Straume T, Gray JW (1986) Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci USA 83:2934-2938
-
(1986)
Proc Natl Acad Sci USA
, vol.83
, pp. 2934-2938
-
-
Pinkel, D.1
Straume, T.2
Gray, J.W.3
-
29
-
-
0029962292
-
A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
-
Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR (1996) A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet 12:288-297
-
(1996)
Nat Genet
, vol.12
, pp. 288-297
-
-
Reiter, L.T.1
Murakami, T.2
Koeuth, T.3
Pentao, L.4
Muzny, D.M.5
Gibbs, R.A.6
Lupski, J.R.7
-
30
-
-
0015246254
-
A rapid banding technique for human chromosomes
-
Seabright M (1971) A rapid banding technique for human chromosomes. Lancet 2:971-972
-
(1971)
Lancet
, vol.2
, pp. 971-972
-
-
Seabright, M.1
-
31
-
-
0028011886
-
Choanal atresia in a patient with the deletion (9p) syndrome
-
Shashi V, Golden WL, Fryburg JS (1994) Choanal atresia in a patient with the deletion (9p) syndrome. Am J Med Genet 49:88-90
-
(1994)
Am J Med Genet
, vol.49
, pp. 88-90
-
-
Shashi, V.1
Golden, W.L.2
Fryburg, J.S.3
-
32
-
-
0029938863
-
Evidence for structural heterogeneity from molecular cytogenetic analysis of dicentric Robertsonian translocations
-
Sullivan BA, Jenkins LS, Karson EM, Leana-Cox J, Schwartz S (1996) Evidence for structural heterogeneity from molecular cytogenetic analysis of dicentric Robertsonian translocations. Am J Hum Genet 59:167-175
-
(1996)
Am J Hum Genet
, vol.59
, pp. 167-175
-
-
Sullivan, B.A.1
Jenkins, L.S.2
Karson, E.M.3
Leana-Cox, J.4
Schwartz, S.5
-
33
-
-
0026049430
-
9p monosomy in a patient with Gilles de la Tourette's syndrome
-
Taylor LD, Krizman DB, Jankovic J, Hayani A, Steuber PC, Greenberg F, Fenwick RG, et al (1991) 9p Monosomy in a patient with Gilles de la Tourette's syndrome. Neurology 41:1513-1515
-
(1991)
Neurology
, vol.41
, pp. 1513-1515
-
-
Taylor, L.D.1
Krizman, D.B.2
Jankovic, J.3
Hayani, A.4
Steuber, P.C.5
Greenberg, F.6
Fenwick, R.G.7
-
34
-
-
0027208980
-
Molecular and cytogenetic characterization of 9p-abnormalities
-
Teebi AS, Gibson L, McGrath J, Meyn MS, Breg WR, Yang-Feng TL (1993) Molecular and cytogenetic characterization of 9p-abnormalities. Am J Med Genet 46:288-292
-
(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
-
35
-
-
0028813216
-
A familial "balanced" 3;9 translocation with cryptic 8q insertion leading to deletion and duplication of 9p23 loci in siblings
-
Wagstaff J, Hemann M (1995) A familial "balanced" 3;9 translocation with cryptic 8q insertion leading to deletion and duplication of 9p23 loci in siblings. Am J Hum Genet 56: 302-309
-
(1995)
Am J Hum Genet
, vol.56
, pp. 302-309
-
-
Wagstaff, J.1
Hemann, M.2
-
36
-
-
0027930370
-
Small marker X chromosomes lack the X inactivation center: Implications for karyotype/phenotype correlations
-
Wolff DJ, Brown CJ, Schwartz S, Duncan AMV, Surti U, Willard HF (1994) Small marker X chromosomes lack the X inactivation center: Implications for karyotype/phenotype correlations. Am J Hum Genet 55:87-95
-
(1994)
Am J Hum Genet
, vol.55
, pp. 87-95
-
-
Wolff, D.J.1
Brown, C.J.2
Schwartz, S.3
Duncan, A.M.V.4
Surti, U.5
Willard, H.F.6
-
37
-
-
0029656085
-
Molecular definition of breakpoints associated with human Xq isochromosomes: Implication for mechanisms of formation
-
Wolff DJ, Miller AP, Van Dyke DL, Schwartz S, Willard HF (1996) Molecular definition of breakpoints associated with human Xq isochromosomes: implication for mechanisms of formation. Am J Hum Genet 58:154-160
-
(1996)
Am J Hum Genet
, vol.58
, pp. 154-160
-
-
Wolff, D.J.1
Miller, A.P.2
Van Dyke, D.L.3
Schwartz, S.4
Willard, H.F.5
-
38
-
-
0020362667
-
The dermatoglyphics and clinical features of the 9p trisomy and partial 9p monosomy syndromes
-
Young RS, Reed T, Hodes ME, Palmer CG (1982) The dermatoglyphics and clinical features of the 9p trisomy and partial 9p monosomy syndromes. Hum Genet 62:31-39
-
(1982)
Hum Genet
, vol.62
, pp. 31-39
-
-
Young, R.S.1
Reed, T.2
Hodes, M.E.3
Palmer, C.G.4
-
39
-
-
0017258328
-
High resolution of human chromosomes
-
Yunis J (1976) High resolution of human chromosomes. Science 191:1268-1270
-
(1976)
Science
, vol.191
, pp. 1268-1270
-
-
Yunis, J.1
|