-
1
-
-
38749099110
-
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders
-
Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, et al. 2008. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet 82:165-173.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 165-173
-
-
Bakkaloglu, B.1
O'Roak, B.J.2
Louvi, A.3
Gupta, A.R.4
Abelson, J.F.5
Morgan, T.M.6
Chawarska, K.7
Klin, A.8
Ercan-Sencicek, A.G.9
Stillman, A.A.10
-
2
-
-
84860633072
-
A developmental and genetic classification for malformations of cortical development: Update 2012
-
Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB. 2012. A developmental and genetic classification for malformations of cortical development: Update 2012. Brain 135:1348-1369.
-
(2012)
Brain
, vol.135
, pp. 1348-1369
-
-
Barkovich, A.J.1
Guerrini, R.2
Kuzniecky, R.I.3
Jackson, G.D.4
Dobyns, W.B.5
-
3
-
-
30144445287
-
Isolated 6q terminal deletions: An emerging new syndrome
-
Bertini V, De Vito G, Costa R, Simi P, Valetto A. 2006. Isolated 6q terminal deletions: An emerging new syndrome. Am J Med Genet A 140:74-81.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 74-81
-
-
Bertini, V.1
De Vito, G.2
Costa, R.3
Simi, P.4
Valetto, A.5
-
4
-
-
84858809441
-
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
-
Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, et al. 2012. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. Orphanet J Rare Dis 7:18.
-
(2012)
Orphanet J Rare Dis
, vol.7
, pp. 18
-
-
Burglen, L.1
Chantot-Bastaraud, S.2
Garel, C.3
Milh, M.4
Touraine, R.5
Zanni, G.6
Petit, F.7
Afenjar, A.8
Goizet, C.9
Barresi, S.10
-
5
-
-
80052260252
-
A copy number variation morbidity map of developmental delay
-
Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, et al. 2011. A copy number variation morbidity map of developmental delay. Nature Genet 43:838-846.
-
(2011)
Nature Genet
, vol.43
, pp. 838-846
-
-
Cooper, G.M.1
Coe, B.P.2
Girirajan, S.3
Rosenfeld, J.A.4
Vu, T.H.5
Baker, C.6
Williams, C.7
Stalker, H.8
Hamid, R.9
Hannig, V.10
-
6
-
-
0028829783
-
Inversion duplication of the short arm of chromosome 8: Clinical data on seven patients and review of the literature
-
de Die-Smulders CE, Engelen JJ, Schrander-Stumpel CT, Govaerts LC, de Vries B, Vles JS, Wagemans A, Schijns-Fleuren S, Gillessen-Kaesbach G, Fryns JP. 1995. Inversion duplication of the short arm of chromosome 8: Clinical data on seven patients and review of the literature. Am J Med Genet 59:369-374.
-
(1995)
Am J Med Genet
, vol.59
, pp. 369-374
-
-
de Die-Smulders, C.E.1
Engelen, J.J.2
Schrander-Stumpel, C.T.3
Govaerts, L.C.4
de Vries, B.5
Vles, J.S.6
Wagemans, A.7
Schijns-Fleuren, S.8
Gillessen-Kaesbach, G.9
Fryns, J.P.10
-
7
-
-
47149093878
-
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2
-
Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, et al. 2008. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A 146A:1637-1654.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 1637-1654
-
-
Dobyns, W.B.1
Mirzaa, G.2
Christian, S.L.3
Petras, K.4
Roseberry, J.5
Clark, G.D.6
Curry, C.J.7
McDonald-McGinn, D.8
Medne, L.9
Zackai, E.10
-
8
-
-
17644424608
-
Calibration of 6q subtelomere deletions to define genotype/phenotype correlations
-
Eash D, Waggoner D, Chung J, Stevenson D, Martin CL. 2005. Calibration of 6q subtelomere deletions to define genotype/phenotype correlations. Clin Genet 67:396-403.
-
(2005)
Clin Genet
, vol.67
, pp. 396-403
-
-
Eash, D.1
Waggoner, D.2
Chung, J.3
Stevenson, D.4
Martin, C.L.5
-
9
-
-
33745229227
-
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: A report of five cases
-
Elia M, Striano P, Fichera M, Gaggero R, Castiglia L, Galesi O, Malacarne M, Pierluigi M, Amato C, Musumeci SA, et al. 2006. 6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: A report of five cases. Epilepsia 47:830-838.
-
(2006)
Epilepsia
, vol.47
, pp. 830-838
-
-
Elia, M.1
Striano, P.2
Fichera, M.3
Gaggero, R.4
Castiglia, L.5
Galesi, O.6
Malacarne, M.7
Pierluigi, M.8
Amato, C.9
Musumeci, S.A.10
-
10
-
-
84856680555
-
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
-
Hayashi S, Okamoto N, Chinen Y, Takanashi J, Makita Y, Hata A, Imoto I, Inazawa J. 2012. Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). Hum Genet 131:99-110.
-
(2012)
Hum Genet
, vol.131
, pp. 99-110
-
-
Hayashi, S.1
Okamoto, N.2
Chinen, Y.3
Takanashi, J.4
Makita, Y.5
Hata, A.6
Imoto, I.7
Inazawa, J.8
-
11
-
-
77952096810
-
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes
-
Heinzen EL, Radtke RA, Urban TJ, Cavalleri GL, Depondt C, Need AC, Walley NM, Nicoletti P, Ge D, Catarino CB, et al. 2010. Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet 86:707-718.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 707-718
-
-
Heinzen, E.L.1
Radtke, R.A.2
Urban, T.J.3
Cavalleri, G.L.4
Depondt, C.5
Need, A.C.6
Walley, N.M.7
Nicoletti, P.8
Ge, D.9
Catarino, C.B.10
-
12
-
-
83555164890
-
Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: Lessons for diagnostic workflow and research
-
Hochstenbach R, Buizer-Voskamp JE, Vorstman JA, Ophoff RA. 2011. Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: Lessons for diagnostic workflow and research. Cytogenet Genome Res 135:174-202.
-
(2011)
Cytogenet Genome Res
, vol.135
, pp. 174-202
-
-
Hochstenbach, R.1
Buizer-Voskamp, J.E.2
Vorstman, J.A.3
Ophoff, R.A.4
-
13
-
-
80054975052
-
Heredity in epilepsy: Neurodevelopment, comorbidity, and the neurological trait
-
Johnson MR, Shorvon SD. 2011. Heredity in epilepsy: Neurodevelopment, comorbidity, and the neurological trait. Epilepsy Behav 22:421-427.
-
(2011)
Epilepsy Behav
, vol.22
, pp. 421-427
-
-
Johnson, M.R.1
Shorvon, S.D.2
-
14
-
-
81255207146
-
High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations
-
Kariminejad R, Lind-Thomsen A, Tumer Z, Erdogan F, Ropers HH, Tommerup N, Ullmann R, Moller RS. 2011. High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. Hum Mutat 32:1427-1435.
-
(2011)
Hum Mutat
, vol.32
, pp. 1427-1435
-
-
Kariminejad, R.1
Lind-Thomsen, A.2
Tumer, Z.3
Erdogan, F.4
Ropers, H.H.5
Tommerup, N.6
Ullmann, R.7
Moller, R.S.8
-
15
-
-
77954625557
-
Definition of drug resistant epilepsy: Consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies
-
Kwan P, Arzimanoglou A, Berg AT, Brodie MJ, Allen Hauser, Mathern W, Moshe G, Perucca SL, Wiebe E, French S. 2010. Definition of drug resistant epilepsy: Consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies. Epilepsia 51:1069-1077.
-
(2010)
Epilepsia
, vol.51
, pp. 1069-1077
-
-
Kwan, P.1
Arzimanoglou, A.2
Berg, A.T.3
Brodie, M.J.4
Allen, H.5
Mathern, W.6
Moshe, G.7
Perucca, S.L.8
Wiebe, E.9
French, S.10
-
16
-
-
0031920916
-
Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay
-
Long FL, Duckett DP, Billam LJ, Williams DK, Crolla JA. 1998. Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay. J Med Genet 35:425-428.
-
(1998)
J Med Genet
, vol.35
, pp. 425-428
-
-
Long, F.L.1
Duckett, D.P.2
Billam, L.J.3
Williams, D.K.4
Crolla, J.A.5
-
17
-
-
77956628767
-
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies
-
Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P, et al. 2010. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 6: e1000962.
-
(2010)
PLoS Genet
, vol.6
, pp. e1000962
-
-
Mefford, H.C.1
Muhle, H.2
Ostertag, P.3
von Spiczak, S.4
Buysse, K.5
Baker, C.6
Franke, A.7
Malafosse, A.8
Genton, P.9
Thomas, P.10
-
18
-
-
84255175953
-
Rare copy number variants are an important cause of epileptic encephalopathies
-
Mefford HC, Yendle SC, Hsu C, Cook J, Geraghty E, McMahon JM, Eeg-Olofsson O, Sadleir LG, Gill D, Ben-Zeev B, et al. 2011. Rare copy number variants are an important cause of epileptic encephalopathies. Ann Neurol 70:974-985.
-
(2011)
Ann Neurol
, vol.70
, pp. 974-985
-
-
Mefford, H.C.1
Yendle, S.C.2
Hsu, C.3
Cook, J.4
Geraghty, E.5
McMahon, J.M.6
Eeg-Olofsson, O.7
Sadleir, L.G.8
Gill, D.9
Ben-Zeev, B.10
-
19
-
-
84856383783
-
Psychosocial adjustment in adolescents who have used cochlear implants since preschool
-
Moog JS, Geers AE, Gustus CH, Brenner CA. 2011. Psychosocial adjustment in adolescents who have used cochlear implants since preschool. Ear Hear 32:75S-83S.
-
(2011)
Ear Hear
, vol.32
, pp. 75S-83S
-
-
Moog, J.S.1
Geers, A.E.2
Gustus, C.H.3
Brenner, C.A.4
-
20
-
-
83555168191
-
Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia
-
Poot M, van der Smagt JJ, Brilstra EH, Bourgeron T. 2011. Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia. Cytogenet Genome Res 135:228-240.
-
(2011)
Cytogenet Genome Res
, vol.135
, pp. 228-240
-
-
Poot, M.1
van der Smagt, J.J.2
Brilstra, E.H.3
Bourgeron, T.4
-
21
-
-
84866361451
-
Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis
-
Quelin C, Saillour Y, Poirier K, Roubertie A, Boddaert N, Desguerre I, Letourneur F, Beldjord C, Chelly J, Bahi-Buisson N. 2012. Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis. Eur J Med Genet 55:527-530.
-
(2012)
Eur J Med Genet
, vol.55
, pp. 527-530
-
-
Quelin, C.1
Saillour, Y.2
Poirier, K.3
Roubertie, A.4
Boddaert, N.5
Desguerre, I.6
Letourneur, F.7
Beldjord, C.8
Chelly, J.9
Bahi-Buisson, N.10
-
22
-
-
0036523933
-
Characterisation of interstitial duplications and triplications of chromosome 15q11-q13
-
Roberts SE, Dennis NR, Browne CE, Willatt L, Woods G, Cross I, Jacobs PA, Thomas S. 2002. Characterisation of interstitial duplications and triplications of chromosome 15q11-q13. Hum Genet 110:227-234.
-
(2002)
Hum Genet
, vol.110
, pp. 227-234
-
-
Roberts, S.E.1
Dennis, N.R.2
Browne, C.E.3
Willatt, L.4
Woods, G.5
Cross, I.6
Jacobs, P.A.7
Thomas, S.8
-
23
-
-
84892805805
-
Shining a light on CNTNAP2: complex functions to complex disorders
-
Rodenas-Cuadrado P, Ho J, Vernes SC. 2013. Shining a light on CNTNAP2: complex functions to complex disorders. Eur J Hum Genet 22:171-178.
-
(2013)
Eur J Hum Genet
, vol.22
, pp. 171-178
-
-
Rodenas-Cuadrado, P.1
Ho, J.2
Vernes, S.C.3
-
24
-
-
0028081050
-
Intrachromosomal triplication of 15q11-q13
-
Schinzel AA, Brecevic L, Bernasconi F, Binkert F, Berthet F, Wuilloud A, Robinson WP. 1994. Intrachromosomal triplication of 15q11-q13. J Med Genet 31:798-803.
-
(1994)
J Med Genet
, vol.31
, pp. 798-803
-
-
Schinzel, A.A.1
Brecevic, L.2
Bernasconi, F.3
Binkert, F.4
Berthet, F.5
Wuilloud, A.6
Robinson, W.P.7
-
25
-
-
7444235828
-
6q subtelomeric deletion: is there a recognizable syndrome
-
Stevenson DA, Brothman AR, Carey JC, Chen Z, Dent KM, Bale JF, Jr., Longo N. 2004. 6q subtelomeric deletion: is there a recognizable syndrome. Clin Dysmorphol 13:103-106.
-
(2004)
Clin Dysmorphol
, vol.13
, pp. 103-106
-
-
Stevenson, D.A.1
Brothman, A.R.2
Carey, J.C.3
Chen, Z.4
Dent, K.M.5
Bale Jr, J.F.6
Longo, N.7
-
26
-
-
84858602053
-
Clinical significance of rare copy number variations in epilepsy: A case-control survey using microarray-based comparative genomic hybridization
-
Striano P, Coppola A, Paravidino R, Malacarne M, Gimelli S, Robbiano A, Traverso M, Pezzella M, Belcastro V, Bianchi A, et al. 2012. Clinical significance of rare copy number variations in epilepsy: A case-control survey using microarray-based comparative genomic hybridization. Arch Neurol 69:322-330.
-
(2012)
Arch Neurol
, vol.69
, pp. 322-330
-
-
Striano, P.1
Coppola, A.2
Paravidino, R.3
Malacarne, M.4
Gimelli, S.5
Robbiano, A.6
Traverso, M.7
Pezzella, M.8
Belcastro, V.9
Bianchi, A.10
-
27
-
-
0035136724
-
Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14
-
Ungaro P, Christian SL, Fantes JA, Mutirangura A, Black S, Reynolds J, Malcolm S, Dobyns WB, Ledbetter DH. 2001. Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14. J Med Genet 38:26-34.
-
(2001)
J Med Genet
, vol.38
, pp. 26-34
-
-
Ungaro, P.1
Christian, S.L.2
Fantes, J.A.3
Mutirangura, A.4
Black, S.5
Reynolds, J.6
Malcolm, S.7
Dobyns, W.B.8
Ledbetter, D.H.9
-
28
-
-
34548770577
-
Distal partial trisomy 1q: report of two cases and a review of the literature
-
Utine GE, Aktas D, Alanay Y, Gucer S, Tuncbilek E, Mrasek K, Liehr T. 2007. Distal partial trisomy 1q: report of two cases and a review of the literature. Prenat Diagn 27:865-871.
-
(2007)
Prenat Diagn
, vol.27
, pp. 865-871
-
-
Utine, G.E.1
Aktas, D.2
Alanay, Y.3
Gucer, S.4
Tuncbilek, E.5
Mrasek, K.6
Liehr, T.7
-
29
-
-
78650895100
-
High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting
-
Wincent J, Anderlid BM, Lagerberg M, Nordenskjold M, Schoumans J. 2011. High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting. Clin Genet 79:147-157.
-
(2011)
Clin Genet
, vol.79
, pp. 147-157
-
-
Wincent, J.1
Anderlid, B.M.2
Lagerberg, M.3
Nordenskjold, M.4
Schoumans, J.5
|