-
1
-
-
0023027515
-
Cytogenetic analysis by in situ hybridization with fluorescently labeled nucleic acid probes
-
Pinkel D., Gray J.W., Trask B., van den Engh G., Fuscoe J., van Dekken H. Cytogenetic analysis by in situ hybridization with fluorescently labeled nucleic acid probes. Cold Spring Harbor Symp Quant Biol 1986, 51(Pt 1):151-157.
-
(1986)
Cold Spring Harbor Symp Quant Biol
, vol.51
, Issue.PART 1
, pp. 151-157
-
-
Pinkel, D.1
Gray, J.W.2
Trask, B.3
van den Engh, G.4
Fuscoe, J.5
van Dekken, H.6
-
2
-
-
0034709126
-
Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory
-
Atkins K.E., Gregg A., Spikes A.S., et al. Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory. Am J Med Genet 2000, 91:377-382.
-
(2000)
Am J Med Genet
, vol.91
, pp. 377-382
-
-
Atkins, K.E.1
Gregg, A.2
Spikes, A.S.3
-
3
-
-
0027370619
-
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis
-
Driscoll D.A., Salvin J., Sellinger B., et al. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet 1993, 30:813-817.
-
(1993)
J Med Genet
, vol.30
, pp. 813-817
-
-
Driscoll, D.A.1
Salvin, J.2
Sellinger, B.3
-
4
-
-
0028905182
-
Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome
-
Nickerson E., Greenberg F., Keating M.T., McCaskill C., Shaffer L.G. Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. Am J Hum Genet 1995, 56:1156-1161.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1156-1161
-
-
Nickerson, E.1
Greenberg, F.2
Keating, M.T.3
McCaskill, C.4
Shaffer, L.G.5
-
5
-
-
0030845141
-
DMD-specific FISH probes are diagnostically useful in the detection of female carriers of DMD gene deletions
-
Voskova-Goldman A., Peier A., Caskey C.T., Richards C.S., Shaffer L.G. DMD-specific FISH probes are diagnostically useful in the detection of female carriers of DMD gene deletions. Neurology 1997, 48:1633-1638.
-
(1997)
Neurology
, vol.48
, pp. 1633-1638
-
-
Voskova-Goldman, A.1
Peier, A.2
Caskey, C.T.3
Richards, C.S.4
Shaffer, L.G.5
-
6
-
-
0034110622
-
Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach
-
Ligon A.H., Kashork C.D., Richards C.S., Shaffer L.G. Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach. Eur J Hum Genet 2000, 8:293-298.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 293-298
-
-
Ligon, A.H.1
Kashork, C.D.2
Richards, C.S.3
Shaffer, L.G.4
-
7
-
-
0031004203
-
Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory
-
Shaffer L.G., Kennedy G.M., Spikes A.S., Lupski J.R. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. Am J Med Genet 1997, 69:325-331.
-
(1997)
Am J Med Genet
, vol.69
, pp. 325-331
-
-
Shaffer, L.G.1
Kennedy, G.M.2
Spikes, A.S.3
Lupski, J.R.4
-
8
-
-
0030765306
-
Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation
-
Ligon A.H., Beaudet A.L., Shaffer L.G. Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation. Am J Hum Genet 1997, 61:51-59.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 51-59
-
-
Ligon, A.H.1
Beaudet, A.L.2
Shaffer, L.G.3
-
9
-
-
0026636703
-
Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH)
-
Klinger K., Landes G., Shook D., et al. Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH). Am J Hum Genet 1992, 51:55-65.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 55-65
-
-
Klinger, K.1
Landes, G.2
Shook, D.3
-
10
-
-
16044371402
-
Anonymous A complete set of human telomeric probes and their clinical application. National Institutes of Health and Institute of Molecular Medicine collaboration
-
Anonymous A complete set of human telomeric probes and their clinical application. National Institutes of Health and Institute of Molecular Medicine collaboration. Nat Genet 1996, 14:86-89.
-
(1996)
Nat Genet
, vol.14
, pp. 86-89
-
-
-
11
-
-
0030960829
-
Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres
-
Knight S.J., Horsley S.W., Regan R., et al. Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres. Eur J Hum Genet 1997, 5:1-8.
-
(1997)
Eur J Hum Genet
, vol.5
, pp. 1-8
-
-
Knight, S.J.1
Horsley, S.W.2
Regan, R.3
-
12
-
-
0029965984
-
Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities
-
Ning Y., Rosenberg M., Biesecker L.G., Ledbetter D.H. Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities. Hum Genet 1996, 97:765-769.
-
(1996)
Hum Genet
, vol.97
, pp. 765-769
-
-
Ning, Y.1
Rosenberg, M.2
Biesecker, L.G.3
Ledbetter, D.H.4
-
13
-
-
0033776316
-
FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes
-
Ballif B.C., Kashork C.D., Shaffer L.G. FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes. Eur J Hum Genet 2000, 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
-
14
-
-
0038820242
-
Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients
-
Jalal S.M., Harwood A.R., Sekhon G.S., et al. Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients. Genet Med 2003, 5:28-34.
-
(2003)
Genet Med
, vol.5
, pp. 28-34
-
-
Jalal, S.M.1
Harwood, A.R.2
Sekhon, G.S.3
-
15
-
-
33745226965
-
Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
-
Ravnan J.B., Tepperberg J.H., Papenhausen P., et al. Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 2006, 43:478-489.
-
(2006)
J Med Genet
, vol.43
, pp. 478-489
-
-
Ravnan, J.B.1
Tepperberg, J.H.2
Papenhausen, P.3
-
16
-
-
0033764929
-
The promise and pitfalls of telomere region-specific probes
-
Ballif B.C., Kashork C.D., Shaffer L.G. The promise and pitfalls of telomere region-specific probes. Am J Hum Genet 2000, 67:1356-1359.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1356-1359
-
-
Ballif, B.C.1
Kashork, C.D.2
Shaffer, L.G.3
-
17
-
-
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., et al. Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci USA 1988, 85:9138-9142.
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 9138-9142
-
-
Pinkel, D.1
Landegent, J.2
Collins, C.3
-
18
-
-
0038214755
-
Multicolor spectral karyotyping of human chromosomes
-
Schröck E., du Manoir S., Veldman T., et al. Multicolor spectral karyotyping of human chromosomes. Science 1996, 273:494-497.
-
(1996)
Science
, vol.273
, pp. 494-497
-
-
Schröck, E.1
du Manoir, S.2
Veldman, T.3
-
19
-
-
0030909689
-
Hidden chromosome abnormalities in haematological malignancies detected by multicolour spectral karyotyping
-
Veldman T., Vignon C., Schrock E., Rowley J.D., Ried T. Hidden chromosome abnormalities in haematological malignancies detected by multicolour spectral karyotyping. Nat Genet 1997, 15:406-410.
-
(1997)
Nat Genet
, vol.15
, pp. 406-410
-
-
Veldman, T.1
Vignon, C.2
Schrock, E.3
Rowley, J.D.4
Ried, T.5
-
20
-
-
77955173454
-
Clinical and genetic aspects of Angelman syndrome
-
Williams C.A., Driscoll D.J., Dagli A.I. Clinical and genetic aspects of Angelman syndrome. Genet Med 2010, 12:385-395.
-
(2010)
Genet Med
, vol.12
, pp. 385-395
-
-
Williams, C.A.1
Driscoll, D.J.2
Dagli, A.I.3
-
21
-
-
77953956556
-
Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH
-
Neill N.J., Torchia B.S., Bejjani B.A., et al. Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH. Mol Cytogenet 2010, 3:11.
-
(2010)
Mol Cytogenet
, vol.3
, pp. 11
-
-
Neill, N.J.1
Torchia, B.S.2
Bejjani, B.A.3
-
22
-
-
37349042458
-
Resolution of trisomic mosaicism in prenatal diagnosis: estimated performance of a 50K SNP microarray
-
Cross J., Peters G., Wu Z., et al. Resolution of trisomic mosaicism in prenatal diagnosis: estimated performance of a 50K SNP microarray. Prenat Diagn 2007, 7:1197-1204.
-
(2007)
Prenat Diagn
, vol.7
, pp. 1197-1204
-
-
Cross, J.1
Peters, G.2
Wu, Z.3
-
23
-
-
16344393207
-
Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?
-
Bejjani B.A., Saleki R., Ballif B.C., et al. Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?. Am J Med Genet A 2005, 134:259-267.
-
(2005)
Am J Med Genet A
, vol.134
, pp. 259-267
-
-
Bejjani, B.A.1
Saleki, R.2
Ballif, B.C.3
-
24
-
-
77952032690
-
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
-
Miller D.T., Adam M.P., Aradhya S., et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010, 86:749-764.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 749-764
-
-
Miller, D.T.1
Adam, M.P.2
Aradhya, S.3
-
25
-
-
0031896698
-
The evaluation of the child with a global developmental delay
-
Shevell M.I. The evaluation of the child with a global developmental delay. Semin Pediatr Neurol 1998, 5:21-26.
-
(1998)
Semin Pediatr Neurol
, vol.5
, pp. 21-26
-
-
Shevell, M.I.1
-
26
-
-
55349141809
-
Array comparative genomic hybridization in global developmental delay
-
Shevell M.I., Bejjani B.A., Srour M., Rorem E.A., Hall N., Shaffer L.G. Array comparative genomic hybridization in global developmental delay. Am J Med Genet B Neuropsychiatr Genet 2008, 147B:1101-1108.
-
(2008)
Am J Med Genet B Neuropsychiatr Genet
, vol.147 B
, pp. 1101-1108
-
-
Shevell, M.I.1
Bejjani, B.A.2
Srour, M.3
Rorem, E.A.4
Hall, N.5
Shaffer, L.G.6
-
27
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate A.J., Feuk L., Rivera M.N., et al. Detection of large-scale variation in the human genome. Nat Genet 2004, 36:949-951.
-
(2004)
Nat Genet
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
-
28
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J., Lakshmi B., Troge J., et al. Large-scale copy number polymorphism in the human genome. Science 2004, 305:525-528.
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
-
29
-
-
59749098567
-
Emerging themes and new challenges in defining the role of structural variation in human disease
-
Sharp A.J. Emerging themes and new challenges in defining the role of structural variation in human disease. Hum Mutat 2009, 30:135-144.
-
(2009)
Hum Mutat
, vol.30
, pp. 135-144
-
-
Sharp, A.J.1
-
30
-
-
85128251104
-
Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications
-
Rosenfeld J.A., Coppinger J., Bejjani B.A., et al. Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications. J Neurodev Disord 2010, 2:26-38.
-
(2010)
J Neurodev Disord
, vol.2
, pp. 26-38
-
-
Rosenfeld, J.A.1
Coppinger, J.2
Bejjani, B.A.3
-
31
-
-
56749154242
-
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
-
Brunetti-Pierri N., Berg J.S., Scaglia F., et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 2008, 40:1466-1471.
-
(2008)
Nat Genet
, vol.40
, pp. 1466-1471
-
-
Brunetti-Pierri, N.1
Berg, J.S.2
Scaglia, F.3
-
32
-
-
54049094444
-
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
-
Mefford H.C., Sharp A.J., Baker C., et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008, 359:1685-1699.
-
(2008)
N Engl J Med
, vol.359
, pp. 1685-1699
-
-
Mefford, H.C.1
Sharp, A.J.2
Baker, C.3
-
33
-
-
39049087253
-
A hot spot of genetic instability in autism
-
Eichler E.E., Zimmerman A.W. A hot spot of genetic instability in autism. N Engl J Med 2008, 358:737-739.
-
(2008)
N Engl J Med
, vol.358
, pp. 737-739
-
-
Eichler, E.E.1
Zimmerman, A.W.2
-
34
-
-
38849126088
-
Recurrent 16p11.2 microdeletions in autism
-
Kumar R.A., KaraMohamed S., Sudi J., et al. Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 2008, 17:628-638.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 628-638
-
-
Kumar, R.A.1
KaraMohamed, S.2
Sudi, J.3
-
35
-
-
39049163023
-
Association between microdeletion and microduplication at 16p11.2 and autism
-
Weiss L.A., Shen Y., Korn J.M., et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008, 358:667-675.
-
(2008)
N Engl J Med
, vol.358
, pp. 667-675
-
-
Weiss, L.A.1
Shen, Y.2
Korn, J.M.3
-
36
-
-
34447278070
-
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation
-
Ullmann R., Turner G., Kirchhoff M., et al. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum Mutat 2007, 28:674-682.
-
(2007)
Hum Mutat
, vol.28
, pp. 674-682
-
-
Ullmann, R.1
Turner, G.2
Kirchhoff, M.3
-
37
-
-
65949097704
-
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
-
Hannes F.D., Sharp A.J., Mefford H.C., et al. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet 2009, 46:223-232.
-
(2009)
J Med Genet
, vol.46
, pp. 223-232
-
-
Hannes, F.D.1
Sharp, A.J.2
Mefford, H.C.3
-
38
-
-
33748644928
-
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation
-
Friedman J.M., Baross A., Delaney A.D., et al. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet 2006, 79:500-513.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 500-513
-
-
Friedman, J.M.1
Baross, A.2
Delaney, A.D.3
-
39
-
-
68049117211
-
High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings
-
Tyreman M., Abbott K.M., Willatt L.R., et al. High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings. J Med Genet 2009, 46:531-541.
-
(2009)
J Med Genet
, vol.46
, pp. 531-541
-
-
Tyreman, M.1
Abbott, K.M.2
Willatt, L.R.3
-
40
-
-
67249148525
-
Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH
-
Adams S.A., Coppinger J., Saitta S.C., et al. Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH. Genet Med 2009, 11:314-322.
-
(2009)
Genet Med
, vol.11
, pp. 314-322
-
-
Adams, S.A.1
Coppinger, J.2
Saitta, S.C.3
-
41
-
-
34548691008
-
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome
-
Shaffer L.G., Theisen A., Bejjani B.A., et al. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genet Med 2007, 9:607-616.
-
(2007)
Genet Med
, vol.9
, pp. 607-616
-
-
Shaffer, L.G.1
Theisen, A.2
Bejjani, B.A.3
-
42
-
-
20544435269
-
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome
-
Willatt L., Cox J., Barber J., et al. 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet 2005, 77:154-160.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 154-160
-
-
Willatt, L.1
Cox, J.2
Barber, J.3
-
43
-
-
33744464743
-
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome
-
Redon R., Baujat G., Sanlaville D., et al. Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. Eur J Hum Genet 2006, 14:759-767.
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 759-767
-
-
Redon, R.1
Baujat, G.2
Sanlaville, D.3
-
44
-
-
39749154724
-
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
-
Sharp A.J., Mefford H.C., Li K., et al. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet 2008, 40:322-328.
-
(2008)
Nat Genet
, vol.40
, pp. 322-328
-
-
Sharp, A.J.1
Mefford, H.C.2
Li, K.3
-
45
-
-
64549106899
-
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region
-
Coppinger J., McDonald-McGinn D., Zackai E., et al. Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region. Hum Mol Genet 2009, 18:1377-1383.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 1377-1383
-
-
Coppinger, J.1
McDonald-McGinn, D.2
Zackai, E.3
-
46
-
-
77649237272
-
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities
-
Ballif B.C., Theisen A., Rosenfeld J.A., et al. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. Am J Hum Genet 2010, 86:454-461.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 454-461
-
-
Ballif, B.C.1
Theisen, A.2
Rosenfeld, J.A.3
-
47
-
-
34047114932
-
Characterization of a recurrent 15q24 microdeletion syndrome
-
Sharp A.J., Selzer R.R., Veltman J.A., et al. Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet 2007, 16:567-572.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 567-572
-
-
Sharp, A.J.1
Selzer, R.R.2
Veltman, J.A.3
-
48
-
-
34548339637
-
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2
-
Ballif B.C., Hornor S.A., Jenkins E., et al. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet 2007, 39:1071-1073.
-
(2007)
Nat Genet
, vol.39
, pp. 1071-1073
-
-
Ballif, B.C.1
Hornor, S.A.2
Jenkins, E.3
-
49
-
-
74249085814
-
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome
-
Rosenfeld J.A., Ballif B.C., Lucas A., et al. Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. PLoS One 2009, 4:e6568.
-
(2009)
PLoS One
, vol.4
-
-
Rosenfeld, J.A.1
Ballif, B.C.2
Lucas, A.3
-
50
-
-
56649099144
-
Clinical variability of the 22q11.2 duplication syndrome
-
Wentzel C., Fernstrom M., Ohrner Y., Anneren G., Thuresson A.C. Clinical variability of the 22q11.2 duplication syndrome. Eur J Med Genet 2008, 51:501-510.
-
(2008)
Eur J Med Genet
, vol.51
, pp. 501-510
-
-
Wentzel, C.1
Fernstrom, M.2
Ohrner, Y.3
Anneren, G.4
Thuresson, A.C.5
-
51
-
-
34547660213
-
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region
-
Berg J.S., Brunetti-Pierri N., Peters S.U., et al. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med 2007, 9:427-441.
-
(2007)
Genet Med
, vol.9
, pp. 427-441
-
-
Berg, J.S.1
Brunetti-Pierri, N.2
Peters, S.U.3
-
52
-
-
67349101629
-
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
-
Van der Aa N., Rooms L., Vandeweyer G., et al. Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur J Med Genet 2009, 52:94-100.
-
(2009)
Eur J Med Genet
, vol.52
, pp. 94-100
-
-
Van der Aa, N.1
Rooms, L.2
Vandeweyer, G.3
-
53
-
-
3242710286
-
High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage
-
Wang N.J., Liu D., Parokonny A.S., Schanen N.C. High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage. Am J Hum Genet 2004, 75:267-281.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 267-281
-
-
Wang, N.J.1
Liu, D.2
Parokonny, A.S.3
Schanen, N.C.4
-
54
-
-
51449094955
-
Williams syndrome in a preterm infant with phenotype of Alagille syndrome
-
Shah P.S., Murthy P., Skidmore D., Shaffer L.G., Bejjani B.A., Chitayat D. Williams syndrome in a preterm infant with phenotype of Alagille syndrome. Am J Med Genet A 2008, 146A:2407-2411.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 2407-2411
-
-
Shah, P.S.1
Murthy, P.2
Skidmore, D.3
Shaffer, L.G.4
Bejjani, B.A.5
Chitayat, D.6
-
55
-
-
77951710448
-
A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features
-
Koifman A., Feigenbaum A., Bi W., et al. A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features. Am J Med Genet A 2010, 152A:1268-1272.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 1268-1272
-
-
Koifman, A.1
Feigenbaum, A.2
Bi, W.3
-
56
-
-
73849121676
-
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations
-
Rosenfeld J.A., Leppig K., Ballif B.C., et al. Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. Genet Med 2009, 11:797-805.
-
(2009)
Genet Med
, vol.11
, pp. 797-805
-
-
Rosenfeld, J.A.1
Leppig, K.2
Ballif, B.C.3
|