-
1
-
-
0026574505
-
Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding
-
1015848 1:STN:280:DyaK38zgvFegsg%3D%3D 1613759
-
Jacobs PA, Browne C, Gregson N, Joyce C, White H. Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J Med Genet. 1992;29(2):103-8.
-
(1992)
J Med Genet
, vol.29
, Issue.2
, pp. 103-108
-
-
Jacobs, P.A.1
Browne, C.2
Gregson, N.3
Joyce, C.4
White, H.5
-
2
-
-
0025941775
-
De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints
-
1683246 1:STN:280:DyaK38%2Fis1WjsQ%3D%3D 1928105
-
Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet. 1991;49(5):995-1013.
-
(1991)
Am J Hum Genet
, vol.49
, Issue.5
, pp. 995-1013
-
-
Warburton, D.1
-
3
-
-
19944432367
-
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes
-
1735914 1:CAS:528:DC%2BD2MXht1Klt70%3D 15635069
-
Gribble SM, Prigmore E, Burford DC, Porter KM, Ng BL, Douglas EJ, et al. The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet. 2005;42(1):8-16.
-
(2005)
J Med Genet
, vol.42
, Issue.1
, pp. 8-16
-
-
Gribble, S.M.1
Prigmore, E.2
Burford, D.C.3
Porter, K.M.4
Ng, B.L.5
Douglas, E.J.6
-
4
-
-
37249022297
-
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: A study of 59 patients
-
2652810 17766364
-
De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, et al. Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet. 2007;44(12):750-62.
-
(2007)
J Med Genet
, vol.44
, Issue.12
, pp. 750-762
-
-
De Gregori, M.1
Ciccone, R.2
Magini, P.3
Pramparo, T.4
Gimelli, S.5
Messa, J.6
-
5
-
-
41149106868
-
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project
-
2427206 1:CAS:528:DC%2BD1cXksVGrur4%3D 18319076
-
Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, et al. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet. 2008;82(3):712-22.
-
(2008)
Am J Hum Genet
, vol.82
, Issue.3
, pp. 712-722
-
-
Higgins, A.W.1
Alkuraya, F.S.2
Bosco, A.F.3
Brown, K.K.4
Bruns, G.A.5
Donovan, D.J.6
-
6
-
-
41649104062
-
Breakpoint mapping and array CGH in translocations: Comparison of a phenotypically normal and an abnormal cohort
-
2427237 1:CAS:528:DC%2BD1cXltVKrsbY%3D 18371933
-
Baptista J, Mercer C, Prigmore E, Gribble SM, Carter NP, Maloney V, et al. Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. Am J Hum Genet. 2008;82(4):927-36.
-
(2008)
Am J Hum Genet
, vol.82
, Issue.4
, pp. 927-936
-
-
Baptista, J.1
Mercer, C.2
Prigmore, E.3
Gribble, S.M.4
Carter, N.P.5
Maloney, V.6
-
7
-
-
67650001560
-
Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype
-
2516517 18644119
-
Sismani C, Kitsiou-Tzeli S, Ioannides M, Christodoulou C, Anastasiadou V, Stylianidou G, et al. Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype. Mol Cytogenet. 2008;1:15.
-
(2008)
Mol Cytogenet
, vol.1
, pp. 15
-
-
Sismani, C.1
Kitsiou-Tzeli, S.2
Ioannides, M.3
Christodoulou, C.4
Anastasiadou, V.5
Stylianidou, G.6
-
8
-
-
69049109727
-
Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases
-
19505601
-
Schluth-Bolard C, Delobel B, Sanlaville D, Boute O, Cuisset JM, Sukno S, et al. Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases. Eur J Med Genet. 2009;52(5):291-6.
-
(2009)
Eur J Med Genet
, vol.52
, Issue.5
, pp. 291-296
-
-
Schluth-Bolard, C.1
Delobel, B.2
Sanlaville, D.3
Boute, O.4
Cuisset, J.M.5
Sukno, S.6
-
9
-
-
77956891982
-
Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes
-
20542150
-
Gijsbers AC, Bosch CA, Dauwerse JG, Giromus O, Hansson K, Hilhorst-Hofstee Y, et al. Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes. Eur J Med Genet. 2010;53(5):227-33.
-
(2010)
Eur J Med Genet
, vol.53
, Issue.5
, pp. 227-233
-
-
Gijsbers, A.C.1
Bosch, C.A.2
Dauwerse, J.G.3
Giromus, O.4
Hansson, K.5
Hilhorst-Hofstee, Y.6
-
10
-
-
80054802258
-
Balanced into array: Genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis
-
3198145 21712853
-
Feenstra I, Hanemaaijer N, Sikkema-Raddatz B, Yntema H, Dijkhuizen T, Lugtenberg D, et al. Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis. Eur J Hum Genet. 2011;19(11):1152-60.
-
(2011)
Eur J Hum Genet
, vol.19
, Issue.11
, pp. 1152-1160
-
-
Feenstra, I.1
Hanemaaijer, N.2
Sikkema-Raddatz, B.3
Yntema, H.4
Dijkhuizen, T.5
Lugtenberg, D.6
-
11
-
-
79952313620
-
Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting
-
1:CAS:528:DC%2BC3MXisFGnu7c%3D 21129364
-
Betancur C. Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res. 2011;1380:42-77.
-
(2011)
Brain Res
, vol.1380
, pp. 42-77
-
-
Betancur, C.1
-
12
-
-
84879883914
-
Recent developments in the genetics of autism spectrum disorders
-
1:CAS:528:DC%2BC3sXksFOqurY%3D 23537858
-
Murdoch JD, State MW. Recent developments in the genetics of autism spectrum disorders. Curr Opin Genet Dev. 2013;23(3):310-5.
-
(2013)
Curr Opin Genet Dev
, vol.23
, Issue.3
, pp. 310-315
-
-
Murdoch, J.D.1
State, M.W.2
-
13
-
-
1242286110
-
Associated medical disorders and disabilities in children with autistic disorder: A population-based study
-
15070547
-
Kielinen M, Rantala H, Timonen E, Linna SL, Moilanen I. Associated medical disorders and disabilities in children with autistic disorder: a population-based study. Autism. 2004;8(1):49-60.
-
(2004)
Autism
, vol.8
, Issue.1
, pp. 49-60
-
-
Kielinen, M.1
Rantala, H.2
Timonen, E.3
Linna, S.L.4
Moilanen, I.5
-
14
-
-
77950564908
-
Clinical genetic testing for patients with autism spectrum disorders
-
4247857 20231187
-
Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, et al. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010;125(4):e727-35.
-
(2010)
Pediatrics
, vol.125
, Issue.4
, pp. 727-735
-
-
Shen, Y.1
Dies, K.A.2
Holm, I.A.3
Bridgemohan, C.4
Sobeih, M.M.5
Caronna, E.B.6
-
15
-
-
77956103865
-
Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism
-
20684015
-
Devillard F, Guinchat V, Moreno-De-Luca D, Tabet AC, Gruchy N, Guillem P, et al. Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism. Am J Med Genet A. 2010;152A(9):2346-54.
-
(2010)
Am J Med Genet A
, vol.152
, Issue.9
, pp. 2346-2354
-
-
Devillard, F.1
Guinchat, V.2
Moreno-De-Luca, D.3
Tabet, A.C.4
Gruchy, N.5
Guillem, P.6
-
16
-
-
75149156576
-
A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21
-
2801886 20034085
-
Haldeman-Englert CR, Chapman KA, Kruger H, Geiger EA, McDonald-McGinn DM, Rappaport E, et al. A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21. Am J Med Genet A. 2010;152A(1):196-202.
-
(2010)
Am J Med Genet A
, vol.152
, Issue.1
, pp. 196-202
-
-
Haldeman-Englert, C.R.1
Chapman, K.A.2
Kruger, H.3
Geiger, E.A.4
McDonald-Mcginn, D.M.5
Rappaport, E.6
-
17
-
-
67651183634
-
Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders
-
1:CAS:528:DC%2BD1MXptlWks7w%3D 19278672
-
Depienne C, Moreno-De-Luca D, Heron D, Bouteiller D, Gennetier A, Delorme R, et al. Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biol Psychiatry. 2009;66(4):349-59.
-
(2009)
Biol Psychiatry
, vol.66
, Issue.4
, pp. 349-359
-
-
Depienne, C.1
Moreno-De-Luca, D.2
Heron, D.3
Bouteiller, D.4
Gennetier, A.5
Delorme, R.6
-
18
-
-
79960812993
-
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
-
Working Group of the American College of Medical Genetics Laboratory Quality Assurance C 21681106
-
Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST, Working Group of the American College of Medical Genetics Laboratory Quality Assurance C. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med. 2011;13(7):680-5.
-
(2011)
Genet Med
, vol.13
, Issue.7
, pp. 680-685
-
-
Kearney, H.M.1
Thorland, E.C.2
Brown, K.K.3
Quintero-Rivera, F.4
South, S.T.5
-
19
-
-
77954100579
-
Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis
-
2962443 1:CAS:528:DC%2BC3cXhtVWmtLbF 20583184
-
Tabet AC, Aboura A, Gerard M, Pilorge M, Dupont C, Gadisseux JF, et al. Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis. Am J Med Genet A. 2010;152A(7):1781-8.
-
(2010)
Am J Med Genet A
, vol.152
, Issue.7
, pp. 1781-1788
-
-
Tabet, A.C.1
Aboura, A.2
Gerard, M.3
Pilorge, M.4
Dupont, C.5
Gadisseux, J.F.6
-
20
-
-
2942703848
-
Molecular analysis of 20 patients with 2q37.3 monosomy: Definition of minimum deletion intervals for key phenotypes
-
1735790 1:CAS:528:DC%2BD2cXlsl2gsLs%3D 15173228
-
Aldred MA, Sanford RO, Thomas NS, Barrow MA, Wilson LC, Brueton LA, et al. Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. J Med Genet. 2004;41(6):433-9.
-
(2004)
J Med Genet
, vol.41
, Issue.6
, pp. 433-439
-
-
Aldred, M.A.1
Sanford, R.O.2
Thomas, N.S.3
Barrow, M.A.4
Wilson, L.C.5
Brueton, L.A.6
-
21
-
-
34250812575
-
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly
-
3381648 1:CAS:528:DC%2BD2sXnsVSltb0%3D 17427195
-
Buxbaum JD, Cai G, Chaste P, Nygren G, Goldsmith J, Reichert J, et al. Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. Am J Med Genet B Neuropsychiatr Genet. 2007;144B(4):484-91.
-
(2007)
Am J Med Genet B Neuropsychiatr Genet
, vol.144
, Issue.4
, pp. 484-491
-
-
Buxbaum, J.D.1
Cai, G.2
Chaste, P.3
Nygren, G.4
Goldsmith, J.5
Reichert, J.6
-
22
-
-
0022532840
-
Pericentric inversions in man. A French collaborative study
-
Groupe de Cytogeneticiens Francais
-
Groupe de Cytogeneticiens Francais. Pericentric inversions in man. A French collaborative study. Ann Genet. 1986;29(3):129-68.
-
(1986)
Ann Genet
, vol.29
, Issue.3
, pp. 129-168
-
-
-
23
-
-
0023232927
-
Chromosomal polymorphisms of 1, 9, 16, and y in 4 major ethnic groups: A large prenatal study
-
1:STN:280:DyaL2s7isV2kuw%3D%3D 3812584
-
Hsu LY, Benn PA, Tannenbaum HL, Perlis TE, Carlson AD. Chromosomal polymorphisms of 1, 9, 16, and Y in 4 major ethnic groups: a large prenatal study. Am J Med Genet. 1987;26(1):95-101.
-
(1987)
Am J Med Genet
, vol.26
, Issue.1
, pp. 95-101
-
-
Hsu, L.Y.1
Benn, P.A.2
Tannenbaum, H.L.3
Perlis, T.E.4
Carlson, A.D.5
-
24
-
-
45049084125
-
Investigation of the origins of human autosomal inversions
-
18470537
-
Thomas NS, Bryant V, Maloney V, Cockwell AE, Jacobs PA. Investigation of the origins of human autosomal inversions. Hum Genet. 2008;123(6):607-16.
-
(2008)
Hum Genet
, vol.123
, Issue.6
, pp. 607-616
-
-
Thomas, N.S.1
Bryant, V.2
Maloney, V.3
Cockwell, A.E.4
Jacobs, P.A.5
-
25
-
-
4444242261
-
Mild Wolf-Hirschhorn syndrome: Micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map
-
1735886 15342700
-
Van Buggenhout G, Melotte C, Dutta B, Froyen G, Van Hummelen P, Marynen P, et al. Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. J Med Genet. 2004;41(9):691-8.
-
(2004)
J Med Genet
, vol.41
, Issue.9
, pp. 691-698
-
-
Van Buggenhout, G.1
Melotte, C.2
Dutta, B.3
Froyen, G.4
Van Hummelen, P.5
Marynen, P.6
-
26
-
-
33745226965
-
Subtelomere FISH analysis of 11 688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
-
2564531 1:CAS:528:DC%2BD28XmvVKksLk%3D 16199540
-
Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, 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(6):478-89.
-
(2006)
J Med Genet
, vol.43
, Issue.6
, pp. 478-489
-
-
Ravnan, J.B.1
Tepperberg, J.H.2
Papenhausen, P.3
Lamb, A.N.4
Hedrick, J.5
Eash, D.6
-
27
-
-
0029025865
-
Clinical manifestations of trisomy 4p syndrome
-
1:STN:280:DyaK2MvgtF2quw%3D%3D 7671938
-
Patel SV, Dagnew H, Parekh AJ, Koenig E, Conte RA, Macera MJ, et al. Clinical manifestations of trisomy 4p syndrome. Eur J Pediatr. 1995;154(6):425-31.
-
(1995)
Eur J Pediatr
, vol.154
, Issue.6
, pp. 425-431
-
-
Patel, S.V.1
Dagnew, H.2
Parekh, A.J.3
Koenig, E.4
Conte, R.A.5
Macera, M.J.6
-
28
-
-
0035934003
-
Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4
-
1:STN:280:DC%2BD3MvhvFaisw%3D%3D 11471177
-
Cotter PD, Kaffe S, Li L, Gershin IF, Hirschhorn K. Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4. Am J Med Genet. 2001;102(1):76-80.
-
(2001)
Am J Med Genet
, vol.102
, Issue.1
, pp. 76-80
-
-
Cotter, P.D.1
Kaffe, S.2
Li, L.3
Gershin, I.F.4
Hirschhorn, K.5
-
29
-
-
4744376183
-
Classical West "syndrome" phenotype with a subtelomeric 4p trisomy
-
15378535
-
Gerard-Blanluet M, Romana S, Munier C, Le Lorc'h M, Kanafani S, Sinico M, et al. Classical West "syndrome" phenotype with a subtelomeric 4p trisomy. Am J Med Genet A. 2004;130A(3):299-302.
-
(2004)
Am J Med Genet A
, vol.130
, Issue.3
, pp. 299-302
-
-
Gerard-Blanluet, M.1
Romana, S.2
Munier, C.3
Le Lorc'H, M.4
Kanafani, S.5
Sinico, M.6
-
30
-
-
70249099952
-
Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion
-
19729912
-
Roselló M, Monfort S, Orellana C, Ferrer-Bolufer I, Quiroga R, Oltra S, et al. Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion. Cytogenet Genome Res. 2009;125(2):103-8.
-
(2009)
Cytogenet Genome Res
, vol.125
, Issue.2
, pp. 103-108
-
-
Roselló, M.1
Monfort, S.2
Orellana, C.3
Ferrer-Bolufer, I.4
Quiroga, R.5
Oltra, S.6
-
31
-
-
79953319580
-
Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype
-
21412978
-
Carmany EP, Bawle EV. Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype. Am J Med Genet A. 2011;155A(4):819-24.
-
(2011)
Am J Med Genet A
, vol.155
, Issue.4
, pp. 819-824
-
-
Carmany, E.P.1
Bawle, E.V.2
-
32
-
-
79951966256
-
A family with partial duplication/deletion 4p due to a balanced t (4; 15) (p16.2; P11.2) translocation
-
21351245
-
Wu L, Meng D, Zhou Z, Du J, Long Z, Liang D. A family with partial duplication/deletion 4p due to a balanced t (4; 15) (p16.2; p11.2) translocation. Am J Med Genet A. 2011;155A(3):656-9.
-
(2011)
Am J Med Genet A
, vol.155
, Issue.3
, pp. 656-659
-
-
Wu, L.1
Meng, D.2
Zhou, Z.3
Du, J.4
Long, Z.5
Liang, D.6
-
33
-
-
84881661362
-
Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family
-
Schonewolf-Greulich B, Ravn K, Hamborg-Petersen B, Brondum-Nielsen K, Tumer Z. Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family. Am J Med Genet A. 2013;161(9):2358-62.
-
(2013)
Am J Med Genet A
, vol.161
, Issue.9
, pp. 2358-2362
-
-
Schonewolf-Greulich, B.1
Ravn, K.2
Hamborg-Petersen, B.3
Brondum-Nielsen, K.4
Tumer, Z.5
-
34
-
-
77952033488
-
Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay
-
20197130
-
Hannes F, Drozniewska M, Vermeesch JR, Haus O. Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay. Eur J Med Genet. 2010;53(3):136-40.
-
(2010)
Eur J Med Genet
, vol.53
, Issue.3
, pp. 136-140
-
-
Hannes, F.1
Drozniewska, M.2
Vermeesch, J.R.3
Haus, O.4
-
35
-
-
84860419791
-
A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features
-
21815251
-
Cyr AB, Nimmakayalu M, Longmuir SQ, Patil SR, Keppler-Noreuil KM, Shchelochkov OA. A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features. Am J Med Genet A. 2011;155A(9):2224-8.
-
(2011)
Am J Med Genet A
, vol.155
, Issue.9
, pp. 2224-2228
-
-
Cyr, A.B.1
Nimmakayalu, M.2
Longmuir, S.Q.3
Patil, S.R.4
Keppler-Noreuil, K.M.5
Shchelochkov, O.A.6
-
36
-
-
84899918742
-
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
-
4067558 1:CAS:528:DC%2BC2cXntVCjsr0%3D 24768552
-
Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, et al. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet. 2014;94(5):677-94.
-
(2014)
Am J Hum Genet
, vol.94
, Issue.5
, pp. 677-694
-
-
Pinto, D.1
Delaby, E.2
Merico, D.3
Barbosa, M.4
Merikangas, A.5
Klei, L.6
-
37
-
-
26444609712
-
Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter
-
1174871 15904506
-
Sogaard M, Tumer Z, Hjalgrim H, Hahnemann J, Friis B, Ledaal P, et al. Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter. BMC Med Genet. 2005;6:21.
-
(2005)
BMC Med Genet.
, vol.6
, pp. 21
-
-
Sogaard, M.1
Tumer, Z.2
Hjalgrim, H.3
Hahnemann, J.4
Friis, B.5
Ledaal, P.6
-
38
-
-
78049377004
-
Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions
-
20981770
-
Fisch GS, Grossfeld P, Falk R, Battaglia A, Youngblom J, Simensen R. Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions. Am J Med Genet C Semin Med Genet. 2010;154C(4):417-26.
-
(2010)
Am J Med Genet C Semin Med Genet
, vol.154
, Issue.4
, pp. 417-426
-
-
Fisch, G.S.1
Grossfeld, P.2
Falk, R.3
Battaglia, A.4
Youngblom, J.5
Simensen, R.6
-
39
-
-
0041821830
-
Inv dup del(4)(:p14 - > p16.3::p16.3 - > qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome
-
12794704
-
Kondoh Y, Toma T, Ohashi H, Harada N, Yoshiura K, Ohta T, et al. Inv dup del(4)(:p14 - > p16.3::p16.3 - > qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome. Am J Med Genet A. 2003;120A(1):123-6.
-
(2003)
Am J Med Genet A
, vol.120
, Issue.1
, pp. 123-126
-
-
Kondoh, Y.1
Toma, T.2
Ohashi, H.3
Harada, N.4
Yoshiura, K.5
Ohta, T.6
-
40
-
-
66349121956
-
Inv dup del(4)(:p13->p16.3::p16.3->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome
-
1:CAS:528:DC%2BD1MXotFSguro%3D 19449429
-
Paskulin GA, Riegel M, Cotter PD, Kiss A, Rosa RF, Zen PR, et al. Inv dup del(4)(:p13->p16.3::p16.3->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome. Am J Med Genet A. 2009;149A(6):1302-7.
-
(2009)
Am J Med Genet A
, vol.149
, Issue.6
, pp. 1302-1307
-
-
Paskulin, G.A.1
Riegel, M.2
Cotter, P.D.3
Kiss, A.4
Rosa, R.F.5
Zen, P.R.6
-
41
-
-
21844452724
-
Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype
-
15966060
-
Beaujard MP, Jouannic JM, Bessieres B, Borie C, Martin-Luis I, Fallet-Bianco C, et al. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype. Prenat Diagn. 2005;25(6):451-5.
-
(2005)
Prenat Diagn
, vol.25
, Issue.6
, pp. 451-455
-
-
Beaujard, M.P.1
Jouannic, J.M.2
Bessieres, B.3
Borie, C.4
Martin-Luis, I.5
Fallet-Bianco, C.6
-
42
-
-
66549096195
-
Inverted duplications deletions: Underdiagnosed rearrangements
-
1:STN:280:DC%2BD1Mvgs1arsQ%3D%3D 19508415
-
Zuffardi O, Bonaglia M, Ciccone R, Giorda R. Inverted duplications deletions: underdiagnosed rearrangements Clin Genet. 2009;75(6):505-13.
-
(2009)
Clin Genet
, vol.75
, Issue.6
, pp. 505-513
-
-
Zuffardi, O.1
Bonaglia, M.2
Ciccone, R.3
Giorda, R.4
-
43
-
-
70349656642
-
U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements
-
1:STN:280:DC%2BD1MnmtlGnuw%3D%3D 19293169
-
Rowe LR, Lee JY, Rector L, Kaminsky EB, Brothman AR, Martin CL, et al. U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements. J Med Genet. 2009;46(10):694-702.
-
(2009)
J Med Genet
, vol.46
, Issue.10
, pp. 694-702
-
-
Rowe, L.R.1
Lee, J.Y.2
Rector, L.3
Kaminsky, E.B.4
Brothman, A.R.5
Martin, C.L.6
-
44
-
-
77955710069
-
Telomere capture as a frequent mechanism for stabilization of the terminal chromosomal deletion associated with inverted duplication
-
1:CAS:528:DC%2BC3cXpvVKqtbw%3D 20606397
-
Yu S, Graf WD. Telomere capture as a frequent mechanism for stabilization of the terminal chromosomal deletion associated with inverted duplication. Cytogenet Genome Res. 2010;129(4):265-74.
-
(2010)
Cytogenet Genome Res
, vol.129
, Issue.4
, pp. 265-274
-
-
Yu, S.1
Graf, W.D.2
-
45
-
-
33744829020
-
Clinical and molecular characterization of individuals with 18p deletion: A genotype-phenotype correlation
-
16691587
-
Wester U, Bondeson ML, Edeby C, Anneren G. Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation. Am J Med Genet A. 2006;140(11):1164-71.
-
(2006)
Am J Med Genet A
, vol.140
, Issue.11
, pp. 1164-1171
-
-
Wester, U.1
Bondeson, M.L.2
Edeby, C.3
Anneren, G.4
-
46
-
-
70350746050
-
SynCAM1 recruits NMDA receptors via protein 4.1B
-
2784006 1:CAS:528:DC%2BD1MXhsVaju73L 19796685
-
Hoy JL, Constable JR, Vicini S, Fu Z, Washbourne P. SynCAM1 recruits NMDA receptors via protein 4.1B. Mol Cell Neurosci. 2009;42(4):466-83.
-
(2009)
Mol Cell Neurosci
, vol.42
, Issue.4
, pp. 466-483
-
-
Hoy, J.L.1
Constable, J.R.2
Vicini, S.3
Fu, Z.4
Washbourne, P.5
-
47
-
-
84886900988
-
The 2q37-deletion syndrome: An update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients
-
3658200 1:CAS:528:DC%2BC3sXnvFyhtLc%3D 23073310
-
Leroy C, Landais E, Briault S, David A, Tassy O, Gruchy N, et al. The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients. Eur J Hum Genet. 2013;21(6):602-12.
-
(2013)
Eur J Hum Genet
, vol.21
, Issue.6
, pp. 602-612
-
-
Leroy, C.1
Landais, E.2
Briault, S.3
David, A.4
Tassy, O.5
Gruchy, N.6
-
48
-
-
77955584378
-
Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems
-
2917703 1:CAS:528:DC%2BC3cXpvFWrs7k%3D 20691407
-
Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, et al. Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J Hum Genet. 2010;87(2):219-28.
-
(2010)
Am J Hum Genet
, vol.87
, Issue.2
, pp. 219-228
-
-
Williams, S.R.1
Aldred, M.A.2
Der Kaloustian, V.M.3
Halal, F.4
Gowans, G.5
McLeod, D.R.6
-
49
-
-
71649092224
-
Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility
-
19877165
-
Cukier HN, Skaar DA, Rayner-Evans MY, Konidari I, Whitehead PL, Jaworski JM, et al. Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility. Autism Res. 2009;2(5):258-66.
-
(2009)
Autism Res
, vol.2
, Issue.5
, pp. 258-266
-
-
Cukier, H.N.1
Skaar, D.A.2
Rayner-Evans, M.Y.3
Konidari, I.4
Whitehead, P.L.5
Jaworski, J.M.6
-
50
-
-
49049118125
-
A translocation t (6;7) (p11-p12;q22) associated with autism and mental retardation: Localization and identification of candidate genes at the breakpoints
-
18496206
-
Vincent JB, Choufani S, Horike S, Stachowiak B, Li M, Dill FJ, et al. A translocation t (6;7) (p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints. Psychiatr Genet. 2008;18(3):101-9.
-
(2008)
Psychiatr Genet
, vol.18
, Issue.3
, pp. 101-109
-
-
Vincent, J.B.1
Choufani, S.2
Horike, S.3
Stachowiak, B.4
Li, M.5
Dill, F.J.6
-
51
-
-
42349088634
-
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
-
1:CAS:528:DC%2BD1cXkvFGkt7s%3D 18369103
-
Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science. 2008;320(5875):539-43.
-
(2008)
Science
, vol.320
, Issue.5875
, pp. 539-543
-
-
Walsh, T.1
McClellan, J.M.2
McCarthy, S.E.3
Addington, A.M.4
Pierce, S.B.5
Cooper, G.M.6
-
52
-
-
80053903662
-
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems
-
21792059
-
Sahoo T, Theisen A, Rosenfeld JA, Lamb AN, Ravnan JB, Schultz RA, et al. Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. Genet Med. 2011;13(10):868-80.
-
(2011)
Genet Med
, vol.13
, Issue.10
, pp. 868-880
-
-
Sahoo, T.1
Theisen, A.2
Rosenfeld, J.A.3
Lamb, A.N.4
Ravnan, J.B.5
Schultz, R.A.6
-
53
-
-
55849152832
-
Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p
-
2953383 18641517
-
Hauge X, Raca G, Cooper S, May K, Spiro R, Adam M, et al. Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p. Genet Med. 2008;10(8):599-611.
-
(2008)
Genet Med
, vol.10
, Issue.8
, pp. 599-611
-
-
Hauge, X.1
Raca, G.2
Cooper, S.3
May, K.4
Spiro, R.5
Adam, M.6
-
54
-
-
2942562853
-
The transcription factor RFX3 directs nodal cilium development and left-right asymmetry specification
-
400456 1:CAS:528:DC%2BD2cXjvFChtb4%3D 15121860
-
Bonnafe E, Touka M, AitLounis A, Baas D, Barras E, Ucla C, et al. The transcription factor RFX3 directs nodal cilium development and left-right asymmetry specification. Mol Cell Biol. 2004;24(10):4417-27.
-
(2004)
Mol Cell Biol
, vol.24
, Issue.10
, pp. 4417-4427
-
-
Bonnafe, E.1
Touka, M.2
Aitlounis, A.3
Baas, D.4
Barras, E.5
Ucla, C.6
-
55
-
-
33747598459
-
A deficiency in RFX3 causes hydrocephalus associated with abnormal differentiation of ependymal cells
-
1:STN:280:DC%2BD28rgs1Oltw%3D%3D 16930429
-
Baas D, Meiniel A, Benadiba C, Bonnafe E, Meiniel O, Reith W, et al. A deficiency in RFX3 causes hydrocephalus associated with abnormal differentiation of ependymal cells. Eur J Neurosci. 2006;24(4):1020-30.
-
(2006)
Eur J Neurosci
, vol.24
, Issue.4
, pp. 1020-1030
-
-
Baas, D.1
Meiniel, A.2
Benadiba, C.3
Bonnafe, E.4
Meiniel, O.5
Reith, W.6
-
56
-
-
84859230726
-
The ciliogenic transcription factor RFX3 regulates early midline distribution of guidepost neurons required for corpus callosum development
-
3315471 1:CAS:528:DC%2BC38XlsFaltbg%3D 22479201
-
Benadiba C, Magnani D, Niquille M, Morle L, Valloton D, Nawabi H, et al. The ciliogenic transcription factor RFX3 regulates early midline distribution of guidepost neurons required for corpus callosum development. PLoS Genet. 2012;8(3):e1002606.
-
(2012)
PLoS Genet
, vol.8
, Issue.3
, pp. 1002606
-
-
Benadiba, C.1
Magnani, D.2
Niquille, M.3
Morle, L.4
Valloton, D.5
Nawabi, H.6
-
57
-
-
84860347597
-
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries
-
3340505 1:CAS:528:DC%2BC38XlvFyju7c%3D 22521361
-
Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, et al. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 2012;149(3):525-37.
-
(2012)
Cell
, vol.149
, Issue.3
, pp. 525-537
-
-
Talkowski, M.E.1
Rosenfeld, J.A.2
Blumenthal, I.3
Pillalamarri, V.4
Chiang, C.5
Heilbut, A.6
-
58
-
-
84874936077
-
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations
-
1:CAS:528:DC%2BC3sXlt1Wls74%3D 23315544
-
Schluth-Bolard C, Labalme A, Cordier MP, Till M, Nadeau G, Tevissen H, et al. Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations. J Med Genet. 2013;50(3):144-50.
-
(2013)
J Med Genet
, vol.50
, Issue.3
, pp. 144-150
-
-
Schluth-Bolard, C.1
Labalme, A.2
Cordier, M.P.3
Till, M.4
Nadeau, G.5
Tevissen, H.6
-
59
-
-
0026556435
-
Incontinentia pigmenti (type 1) and X;5 translocation
-
1:STN:280:DyaK38zgtl2qsg%3D%3D 1610121
-
Bitoun P, Philippe C, Cherif M, Mulcahy MT, Gilgenkrantz S. Incontinentia pigmenti (type 1) and X;5 translocation. Ann Genet. 1992;35(1):51-4.
-
(1992)
Ann Genet
, vol.35
, Issue.1
, pp. 51-54
-
-
Bitoun, P.1
Philippe, C.2
Cherif, M.3
Mulcahy, M.T.4
Gilgenkrantz, S.5
|