-
1
-
-
33746853117
-
Identifying infants and young children with developmental disorders in the medical home: An algorithm for developmental surveillance and screening
-
AAP (American Academy of Pediatrics)
-
AAP (American Academy of Pediatrics) Identifying infants and young children with developmental disorders in the medical home: An algorithm for developmental surveillance and screening. Pediatrics 2006, 118:405-420.
-
(2006)
Pediatrics
, vol.118
, pp. 405-420
-
-
-
2
-
-
57249086236
-
Clinical utility of array comparative genomic hybridization: Uncovering tumor susceptibility in individuals with developmental delay
-
Adam M.P., Justice A.N., Schelley S., Kwan A., Hudgins L., Martin C.L. Clinical utility of array comparative genomic hybridization: Uncovering tumor susceptibility in individuals with developmental delay. J Pediatr 2009, 154:143-146.
-
(2009)
J Pediatr
, vol.154
, pp. 143-146
-
-
Adam, M.P.1
Justice, A.N.2
Schelley, S.3
Kwan, A.4
Hudgins, L.5
Martin, C.L.6
-
3
-
-
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
-
4
-
-
84859494373
-
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis
-
(Epub.)
-
Armengol L., Nevado J., Serra-Juhe C., et al. Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis. Hum Genet 2011, (Epub.). 10.1007/s00439-011-1095-5.
-
(2011)
Hum Genet
-
-
Armengol, L.1
Nevado, J.2
Serra-Juhe, C.3
-
5
-
-
48849108010
-
Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray
-
Baldwin E.L., Lee J.Y., Blake D.M., et al. Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray. Genet Med 2008, 10:415-429.
-
(2008)
Genet Med
, vol.10
, pp. 415-429
-
-
Baldwin, E.L.1
Lee, J.Y.2
Blake, D.M.3
-
6
-
-
23744487028
-
Directly transmitted unbalanced chromosome abnormalities and euchromatic variants
-
Barber J.C. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J Med Genet 2005, 42:609-629.
-
(2005)
J Med Genet
, vol.42
, pp. 609-629
-
-
Barber, J.C.1
-
7
-
-
79960444931
-
Practical guidelines for managing patients with 22q11.2 deletion syndrome
-
e331
-
Bassett A.S., McDonald-McGinn D.M., Devriendt K., et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 2011, 159:332-339. e331.
-
(2011)
J Pediatr
, vol.159
, pp. 332-339
-
-
Bassett, A.S.1
McDonald-McGinn, D.M.2
Devriendt, K.3
-
8
-
-
77249119762
-
The landscape of somatic copy-number alteration across human cancers
-
Beroukhim R., Mermel C.H., Porter D., et al. The landscape of somatic copy-number alteration across human cancers. Nature 2010, 463:899-905.
-
(2010)
Nature
, vol.463
, pp. 899-905
-
-
Beroukhim, R.1
Mermel, C.H.2
Porter, D.3
-
9
-
-
0036467131
-
The end of the beginning of chromosome ends
-
Biesecker L.G. The end of the beginning of chromosome ends. Am J Med Genet 2002, 107:263-266.
-
(2002)
Am J Med Genet
, vol.107
, pp. 263-266
-
-
Biesecker, L.G.1
-
10
-
-
84856005830
-
Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping
-
Bruno D.L., White S.M., Ganesamoorthy D., et al. Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping. J Med Genet 2011, 48:831-839.
-
(2011)
J Med Genet
, vol.48
, pp. 831-839
-
-
Bruno, D.L.1
White, S.M.2
Ganesamoorthy, D.3
-
11
-
-
34247124695
-
Resolving the resolution of array CGH
-
Coe B.P., Ylstra B., Carvalho B., Meijer G.A., Macaulay C., Lam W.L. Resolving the resolution of array CGH. Genomics 2007, 89:647-653.
-
(2007)
Genomics
, vol.89
, pp. 647-653
-
-
Coe, B.P.1
Ylstra, B.2
Carvalho, B.3
Meijer, G.A.4
Macaulay, C.5
Lam, W.L.6
-
12
-
-
77951702768
-
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis
-
Conlin L.K., Thiel B.D., Bonnemann C.G., et al. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet 2010, 19:1263-1275.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1263-1275
-
-
Conlin, L.K.1
Thiel, B.D.2
Bonnemann, C.G.3
-
13
-
-
80052260252
-
A copy number variation morbidity map of developmental delay
-
Cooper G.M., Coe B.P., Girirajan S., et al. A copy number variation morbidity map of developmental delay. Nat Genet 2011, 43:838-846.
-
(2011)
Nat Genet
, vol.43
, pp. 838-846
-
-
Cooper, G.M.1
Coe, B.P.2
Girirajan, S.3
-
14
-
-
80052592396
-
Chromosomal microarray testing influences medical management
-
Coulter M.E., Miller D.T., Harris D.J., et al. Chromosomal microarray testing influences medical management. Genet Med 2011, 13:770-776.
-
(2011)
Genet Med
, vol.13
, pp. 770-776
-
-
Coulter, M.E.1
Miller, D.T.2
Harris, D.J.3
-
15
-
-
34848823144
-
An innocuous duplication of 11.2Mb at 13q21 is gene poor: Sub-bands of gene paucity and pervasive CNV characterize the chromosome anomalies
-
Daniel A., Darmanian A., Peters G., Goodwin L., Hort J.R. An innocuous duplication of 11.2Mb at 13q21 is gene poor: Sub-bands of gene paucity and pervasive CNV characterize the chromosome anomalies. Am J Med Genet 2007, 143A:2452-2459.
-
(2007)
Am J Med Genet
, vol.143 A
, pp. 2452-2459
-
-
Daniel, A.1
Darmanian, A.2
Peters, G.3
Goodwin, L.4
Hort, J.R.5
-
16
-
-
25444432040
-
Diagnostic genome profiling in mental retardation
-
De Vries B.B., Pfundt R., Leisink M., et al. Diagnostic genome profiling in mental retardation. Am J Hum Genet 2005, 77:606-616.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 606-616
-
-
De Vries, B.B.1
Pfundt, R.2
Leisink, M.3
-
17
-
-
0037376804
-
DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones
-
Fiegler H., Carr P., Douglas E.J., et al. DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones. Genes Chromosom Cancer 2003, 36:361-374.
-
(2003)
Genes Chromosom Cancer
, vol.36
, pp. 361-374
-
-
Fiegler, H.1
Carr, P.2
Douglas, E.J.3
-
18
-
-
64149099583
-
DECIPHER: Database of chromosomal imbalance and phenotype in humans using ensembl resources
-
Firth H.V., Richards S.M., Bevan A.P., et al. DECIPHER: Database of chromosomal imbalance and phenotype in humans using ensembl resources. Am J Hum Genet 2009, 84:524-533.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 524-533
-
-
Firth, H.V.1
Richards, S.M.2
Bevan, A.P.3
-
19
-
-
35348897165
-
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays
-
Hoyer J., Dreweke A., Becker C., et al. Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays. J Med Genet 2007, 44:629-636.
-
(2007)
J Med Genet
, vol.44
, pp. 629-636
-
-
Hoyer, J.1
Dreweke, A.2
Becker, C.3
-
20
-
-
10744233914
-
A tiling resolution DNA microarray with complete coverage of the human genome
-
Ishkanian A.S., Malloff C.A., Watson S.K., et al. A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet 2004, 36:299-303.
-
(2004)
Nat Genet
, vol.36
, pp. 299-303
-
-
Ishkanian, A.S.1
Malloff, C.A.2
Watson, S.K.3
-
21
-
-
0026495364
-
Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors
-
Kallioniemi A., Kallioniemi O.P., Sudar D., et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 1992, 258:818-821.
-
(1992)
Science
, vol.258
, pp. 818-821
-
-
Kallioniemi, A.1
Kallioniemi, O.P.2
Sudar, D.3
-
22
-
-
80052588672
-
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
-
Kaminsky E.B., Kaul V., Paschall J., et al. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med 2011, 13:777-784.
-
(2011)
Genet Med
, vol.13
, pp. 777-784
-
-
Kaminsky, E.B.1
Kaul, V.2
Paschall, J.3
-
23
-
-
79960783840
-
American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities
-
Kearney H.M., South S.T., Wolff D.J., Lamb A., Hamosh A., Rao K.W. American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities. Genet Med 2011, 13:676-679.
-
(2011)
Genet Med
, vol.13
, pp. 676-679
-
-
Kearney, H.M.1
South, S.T.2
Wolff, D.J.3
Lamb, A.4
Hamosh, A.5
Rao, K.W.6
-
24
-
-
79960812993
-
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
-
Kearney H.M., Thorland E.C., Brown K.K., Quintero-Rivera F., South S.T. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med 2011, 13:680-685.
-
(2011)
Genet Med
, vol.13
, pp. 680-685
-
-
Kearney, H.M.1
Thorland, E.C.2
Brown, K.K.3
Quintero-Rivera, F.4
South, S.T.5
-
25
-
-
0033851883
-
An optimized set of human telomere clones for studying telomere integrity and architecture
-
Knight S.J., Lese C.M., Precht K.S., et al. An optimized set of human telomere clones for studying telomere integrity and architecture. Am J Hum Genet 2000, 67:320-332.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 320-332
-
-
Knight, S.J.1
Lese, C.M.2
Precht, K.S.3
-
26
-
-
67849083157
-
Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1
-
Krepischi-Santos A.C., Rajan D., Temple I.K., et al. Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1. Cytogenet Genome Res 2009, 125:1-7.
-
(2009)
Cytogenet Genome Res
, vol.125
, pp. 1-7
-
-
Krepischi-Santos, A.C.1
Rajan, D.2
Temple, I.K.3
-
27
-
-
3142698256
-
A set of BAC clones spanning the human genome
-
Krzywinski M., Bosdet I., Smailus D., et al. A set of BAC clones spanning the human genome. Nucleic Acids Res 2004, 32:3651-3660.
-
(2004)
Nucleic Acids Res
, vol.32
, pp. 3651-3660
-
-
Krzywinski, M.1
Bosdet, I.2
Smailus, D.3
-
28
-
-
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
-
29
-
-
34347361618
-
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
-
Lee C., Iafrate A.J., Brothman A.R. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet 2007, 39:S48-S54.
-
(2007)
Nat Genet
, vol.39
-
-
Lee, C.1
Iafrate, A.J.2
Brothman, A.R.3
-
30
-
-
34249717942
-
Clinical implementation of chromosomal microarray analysis: Summary of 2513 postnatal cases
-
Lu X., Shaw C.A., Patel A., et al. Clinical implementation of chromosomal microarray analysis: Summary of 2513 postnatal cases. PLoS One 2007, 2:e327.
-
(2007)
PLoS One
, vol.2
-
-
Lu, X.1
Shaw, C.A.2
Patel, A.3
-
31
-
-
78649635514
-
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
-
Manning M., Hudgins L. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med 2010, 12:742-745.
-
(2010)
Genet Med
, vol.12
, pp. 742-745
-
-
Manning, M.1
Hudgins, L.2
-
32
-
-
35348827304
-
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy
-
Mefford H.C., Clauin S., Sharp A.J., et al. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet 2007, 81:1057-1069.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 1057-1069
-
-
Mefford, H.C.1
Clauin, S.2
Sharp, A.J.3
-
33
-
-
82955235679
-
Evidence report: Genetic and metabolic testing on children with global developmental delay: Report of the quality standards subcommittee of the american academy of neurology and the practice committee of the child neurology society
-
Michelson D.J., Shevell M.I., Sherr E.H., Moeschler J.B., Gropman A.L., Ashwal S. Evidence report: Genetic and metabolic testing on children with global developmental delay: Report of the quality standards subcommittee of the american academy of neurology and the practice committee of the child neurology society. Neurology 2011, 77:1629-1635.
-
(2011)
Neurology
, vol.77
, pp. 1629-1635
-
-
Michelson, D.J.1
Shevell, M.I.2
Sherr, E.H.3
Moeschler, J.B.4
Gropman, A.L.5
Ashwal, S.6
-
34
-
-
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
-
35
-
-
85027924732
-
Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions
-
Mitter D., Ullmann R., Muradyan A., et al. Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions. Eur J Hum Genet 2011, 19:947-958.
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 947-958
-
-
Mitter, D.1
Ullmann, R.2
Muradyan, A.3
-
36
-
-
79960080595
-
A de novo 0.57Mb microdeletion in chromosome 11q13.1 in a patient with speech problems, autistic traits, dysmorphic features and multiple endocrine neoplasia type 1
-
Mohrmann I., Gillessen-Kaesbach G., Siebert R., Caliebe A., Hellenbroich Y. A de novo 0.57Mb microdeletion in chromosome 11q13.1 in a patient with speech problems, autistic traits, dysmorphic features and multiple endocrine neoplasia type 1. Eur J Med Genet 2011, 54:e461-e464.
-
(2011)
Eur J Med Genet
, vol.54
-
-
Mohrmann, I.1
Gillessen-Kaesbach, G.2
Siebert, R.3
Caliebe, A.4
Hellenbroich, Y.5
-
37
-
-
78249281977
-
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia
-
Moreno-de-Luca D., Mulle J.G., Kaminsky E.B., et al. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet 2010, 87:618-630.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 618-630
-
-
Moreno-de-Luca, D.1
Mulle, J.G.2
Kaminsky, E.B.3
-
38
-
-
0033063788
-
Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern
-
Moss E.M., Batshaw M.L., Solot C.B., et al. Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern. J Pediatr 1999, 134:193-198.
-
(1999)
J Pediatr
, vol.134
, pp. 193-198
-
-
Moss, E.M.1
Batshaw, M.L.2
Solot, C.B.3
-
39
-
-
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
-
40
-
-
79957589237
-
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
-
O'Roak B.J., Deriziotis P., Lee C., et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 2011, 43:585-589.
-
(2011)
Nat Genet
, vol.43
, pp. 585-589
-
-
O'Roak, B.J.1
Deriziotis, P.2
Lee, C.3
-
41
-
-
79961128043
-
Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: What are the issues?
-
Pichert G., Mohammed S.N., Ahn J.W., Ogilvie C.M., Izatt L. Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: What are the issues?. J Med Genet 2011, 48:535-539.
-
(2011)
J Med Genet
, vol.48
, pp. 535-539
-
-
Pichert, G.1
Mohammed, S.N.2
Ahn, J.W.3
Ogilvie, C.M.4
Izatt, L.5
-
42
-
-
17344371740
-
High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
-
Pinkel D., Segraves R., Sudar D., et al. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 1998, 20:207-211.
-
(1998)
Nat Genet
, vol.20
, pp. 207-211
-
-
Pinkel, D.1
Segraves, R.2
Sudar, D.3
-
43
-
-
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
-
44
-
-
77951977961
-
Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability
-
Regier D.A., Friedman J.M., Marra C.A. Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability. Am J Hum Genet 2010, 86:765-772.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 765-772
-
-
Regier, D.A.1
Friedman, J.M.2
Marra, C.A.3
-
45
-
-
84859560460
-
Towards an evidence-based process for the clinical interpretation of copy number variation
-
(Epub.)
-
Riggs E.R., Church D.M., Hanson K., et al. Towards an evidence-based process for the clinical interpretation of copy number variation. Clin Genet 2011, (Epub.). 10.1111/j.1399-0004.2011.01818.x.
-
(2011)
Clin Genet
-
-
Riggs, E.R.1
Church, D.M.2
Hanson, K.3
-
46
-
-
84864331137
-
Phenotypic information in genomic variant databases enhances clinical care and research: The ISCA consortium experience
-
(Epub.)
-
Riggs E.R., Jackson L., Miller D.T. Phenotypic information in genomic variant databases enhances clinical care and research: The ISCA consortium experience. Hum Mutat 2012, (Epub.). 10.1002/humu.22052.
-
(2012)
Hum Mutat
-
-
Riggs, E.R.1
Jackson, L.2
Miller, D.T.3
-
47
-
-
34548668183
-
Structural variation in the human genome: The impact of copy number variants on clinical diagnosis
-
Rodriguez-Revenga L., Mila M., Rosenberg C., Lamb A., Lee C. Structural variation in the human genome: The impact of copy number variants on clinical diagnosis. Genet Med 2007, 9:600-606.
-
(2007)
Genet Med
, vol.9
, pp. 600-606
-
-
Rodriguez-Revenga, L.1
Mila, M.2
Rosenberg, C.3
Lamb, A.4
Lee, C.5
-
48
-
-
80052814512
-
Combined characterization of a pituitary adenoma and a subcutaneous lipoma in a MEN1 patient with a whole gene deletion
-
Rusconi D., Valtorta E., Rodeschini O., et al. Combined characterization of a pituitary adenoma and a subcutaneous lipoma in a MEN1 patient with a whole gene deletion. Cancer Genet 2011, 204:309-315.
-
(2011)
Cancer Genet
, vol.204
, pp. 309-315
-
-
Rusconi, D.1
Valtorta, E.2
Rodeschini, O.3
-
49
-
-
40949108044
-
How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay
-
Saam J., Gudgeon J., Aston E., Brothman A.R. How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay. Genet Med 2008, 10:181-186.
-
(2008)
Genet Med
, vol.10
, pp. 181-186
-
-
Saam, J.1
Gudgeon, J.2
Aston, E.3
Brothman, A.R.4
-
50
-
-
77951712247
-
17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor
-
Schluth-Bolard C., Sanlaville D., Labalme A., et al. 17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor. Am J Med Genet 2010, 152A:1278-1282.
-
(2010)
Am J Med Genet
, vol.152 A
, pp. 1278-1282
-
-
Schluth-Bolard, C.1
Sanlaville, D.2
Labalme, A.3
-
51
-
-
33746167778
-
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
-
Shaffer L.G., Kashork C.D., Saleki R., et al. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 2006, 149:98-102.
-
(2006)
J Pediatr
, vol.149
, pp. 98-102
-
-
Shaffer, L.G.1
Kashork, C.D.2
Saleki, R.3
-
52
-
-
84884016587
-
-
Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences of gene dosage imbalance. In: Valle, D., Beaudet, A.L., Vogelstein, B., Kinzler, K.W., et al. (Eds.), Scriver's Online Metabolic and Molecular Bases of Inherited Disease.
-
Shaffer, L.G., Ledbetter, D.H., and Lupski, J.R. 2006b. Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences of gene dosage imbalance. In: Valle, D., Beaudet, A.L., Vogelstein, B., Kinzler, K.W., et al. (Eds.), Scriver's Online Metabolic and Molecular Bases of Inherited Disease.
-
(2006)
-
-
Shaffer, L.G.1
Ledbetter, D.H.2
Lupski, J.R.3
-
53
-
-
55449129552
-
Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens
-
Shaffer L.G., Coppinger J., Alliman S., et al. Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens. Prenat Diagn 2008, 28:789-795.
-
(2008)
Prenat Diagn
, vol.28
, pp. 789-795
-
-
Shaffer, L.G.1
Coppinger, J.2
Alliman, S.3
-
54
-
-
78249286208
-
A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes
-
Shlien A., Baskin B., Achatz M.I., et al. A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes. Am J Hum Genet 2010, 87:631-642.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 631-642
-
-
Shlien, A.1
Baskin, B.2
Achatz, M.I.3
-
55
-
-
0035179871
-
Assembly of microarrays for genome-wide measurement of DNA copy number
-
Snijders A.M., Nowak N., Segraves R., et al. Assembly of microarrays for genome-wide measurement of DNA copy number. Nat Genet 2001, 29:263-264.
-
(2001)
Nat Genet
, vol.29
, pp. 263-264
-
-
Snijders, A.M.1
Nowak, N.2
Segraves, R.3
-
56
-
-
59449102851
-
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases
-
Van den Veyver I.B., Patel A., Shaw C.A., et al. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn 2009, 29:29-39.
-
(2009)
Prenat Diagn
, vol.29
, pp. 29-39
-
-
Van den Veyver, I.B.1
Patel, A.2
Shaw, C.A.3
-
57
-
-
9144240478
-
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities
-
Vissers L.E., De Vries B.B., Osoegawa K., et al. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 2003, 73:1261-1270.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1261-1270
-
-
Vissers, L.E.1
De Vries, B.B.2
Osoegawa, K.3
-
58
-
-
84859125787
-
1: A multicenter, prospective, masked comparison of chromosomal microarray with standard karyotyping for routine and high risk prenatal diagnosis
-
Wapner R. 1: A multicenter, prospective, masked comparison of chromosomal microarray with standard karyotyping for routine and high risk prenatal diagnosis. Am J Obstet Gynecol 2012, 206:S2.
-
(2012)
Am J Obstet Gynecol
, vol.206
-
-
Wapner, R.1
-
59
-
-
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
-
60
-
-
33847084436
-
Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer
-
Will O., Carvajal-Carmona L.G., Gorman P., et al. Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer. Gastroenterology 2007, 132:527-530.
-
(2007)
Gastroenterology
, vol.132
, pp. 527-530
-
-
Will, O.1
Carvajal-Carmona, L.G.2
Gorman, P.3
-
61
-
-
32644441984
-
BAC to the future! or Oligonucleotides: A perspective for micro array comparative genomic hybridization (array CGH)
-
Ylstra B., Van den Ijssel P., Carvalho B., Brakenhoff R.H., Meijer G.A. BAC to the future! or Oligonucleotides: A perspective for micro array comparative genomic hybridization (array CGH). Nucleic Acids Res 2006, 34:445-450.
-
(2006)
Nucleic Acids Res
, vol.34
, pp. 445-450
-
-
Ylstra, B.1
Van den Ijssel, P.2
Carvalho, B.3
Brakenhoff, R.H.4
Meijer, G.A.5
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