-
1
-
-
0003535936
-
-
3rd edition, Hoboken, New Jersey, Wiley
-
Agresti A. 2013. Categorical data analysis, 3rd edition. Hoboken, New Jersey: Wiley. p 744. ISBN: 978-0-470-46363-5
-
(2013)
Categorical data analysis
, pp. 744
-
-
Agresti, A.1
-
2
-
-
84897537565
-
Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): Preliminary results
-
Ajmone PF, Rigamonti C, Dall'Ara F, Monti F, Vizziello P, Milani D, Cereda A, Selicorni A, Costantino A. 2014. Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): Preliminary results. Am J Med Genet 165:223–229.
-
(2014)
Am J Med Genet
, vol.165
, pp. 223-229
-
-
Ajmone, P.F.1
Rigamonti, C.2
Dall'Ara, F.3
Monti, F.4
Vizziello, P.5
Milani, D.6
Cereda, A.7
Selicorni, A.8
Costantino, A.9
-
3
-
-
0030788742
-
De Lange syndrome: Subjective and objective comparison of the classical and mild phenotypes
-
Allanson JE, Hennekam RC, Ireland M. 1997. De Lange syndrome: Subjective and objective comparison of the classical and mild phenotypes. J Med Genet 34:645–650.
-
(1997)
J Med Genet
, vol.34
, pp. 645-650
-
-
Allanson, J.E.1
Hennekam, R.C.2
Ireland, M.3
-
4
-
-
84911409557
-
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
-
Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, Bengani H, Chan CY, Kayserili H, Avci S, Hennekam RCM, Lampe AK, Redeker E, Homfray T, Ross A, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB, Fryer A, Magee AC, Wilkie A, Barnicoat A, Brady AF, Cooper NS, Mercer C, Deshpande C, Bennett CP, Pilz DT, Ruddy D, Cilliers D, Johnson DS, Josifova D, Rosser E, Thompson EM, Wakeling E, Kinning E, Stewart F, Flinter F, Girisha KM, Cox H, Firth HV, Kingston H, Wee JS, Hurst JA, Clayton-Smith J, Tolmie J, Vogt J, Tatton-Brown K, Chandler K, Prescott K, Wilson L, Behnam M, McEntagart M, Davidson R, Lynch SA, Sisodiya S, Mehta SG, McKee SA, Mohammed S, Holden S, Park SM, Holder SE, Harrison V, McConnell V, Lam WK, Green AJ, Donnai D, Bitner-Glindzicz M, Donnelly DE, Nellåker C, Taylor MS, FitzPatrick DR. 2014. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. J Med Genet 51:659–668.
-
(2014)
J Med Genet
, vol.51
, pp. 659-668
-
-
Ansari, M.1
Poke, G.2
Ferry, Q.3
Williamson, K.4
Aldridge, R.5
Meynert, A.M.6
Bengani, H.7
Chan, C.Y.8
Kayserili, H.9
Avci, S.10
Hennekam, R.C.M.11
Lampe, A.K.12
Redeker, E.13
Homfray, T.14
Ross, A.15
Falkenberg Smeland, M.16
Mansour, S.17
Parker, M.J.18
Cook, J.A.19
Splitt, M.20
Fisher, R.B.21
Fryer, A.22
Magee, A.C.23
Wilkie, A.24
Barnicoat, A.25
Brady, A.F.26
Cooper, N.S.27
Mercer, C.28
Deshpande, C.29
Bennett, C.P.30
Pilz, D.T.31
Ruddy, D.32
Cilliers, D.33
Johnson, D.S.34
Josifova, D.35
Rosser, E.36
Thompson, E.M.37
Wakeling, E.38
Kinning, E.39
Stewart, F.40
Flinter, F.41
Girisha, K.M.42
Cox, H.43
Firth, H.V.44
Kingston, H.45
Wee, J.S.46
Hurst, J.A.47
Clayton-Smith, J.48
Tolmie, J.49
Vogt, J.50
Tatton-Brown, K.51
Chandler, K.52
Prescott, K.53
Wilson, L.54
Behnam, M.55
McEntagart, M.56
Davidson, R.57
Lynch, S.A.58
Sisodiya, S.59
Mehta, S.G.60
McKee, S.A.61
Mohammed, S.62
Holden, S.63
Park, S.M.64
Holder, S.E.65
Harrison, V.66
McConnell, V.67
Lam, W.K.68
Green, A.J.69
Donnai, D.70
Bitner-Glindzicz, M.71
Donnelly, D.E.72
Nellåker, C.73
Taylor, M.S.74
FitzPatrick, D.R.75
more..
-
5
-
-
0027488443
-
Mild Brachmann-de Lange syndrome. Delineation of the clinical phenotype, and characteristic behaviors in a six-year-old boy
-
Bay C, Mauk J, Radcliffe J, Kaplan P. 1993. Mild Brachmann-de Lange syndrome. Delineation of the clinical phenotype, and characteristic behaviors in a six-year-old boy. Am J Med Genet 47:965–968.
-
(1993)
Am J Med Genet
, vol.47
, pp. 965-968
-
-
Bay, C.1
Mauk, J.2
Radcliffe, J.3
Kaplan, P.4
-
6
-
-
33745909174
-
Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: The Dutch experience
-
Bhuiyan ZA, Klein M, Hammond P, van Haeringen A, Mannens MM, Van Berckelaer-Onnes I, Hennekam RC. 2005. Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: The Dutch experience. J Med Genet 43:568–575.
-
(2005)
J Med Genet
, vol.43
, pp. 568-575
-
-
Bhuiyan, Z.A.1
Klein, M.2
Hammond, P.3
van Haeringen, A.4
Mannens, M.M.5
Van Berckelaer-Onnes, I.6
Hennekam, R.C.7
-
7
-
-
21144443363
-
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome
-
Borck G, Redon R, Sanlaville D, Rio M, Prieur M, Lyonnet S, Vekemans M, Carter NP, Munnich A, Colleaux L, Cormier-Daire V. 2004. NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. J Med Genet 41:e128.
-
(2004)
J Med Genet
, vol.41
, pp. e128
-
-
Borck, G.1
Redon, R.2
Sanlaville, D.3
Rio, M.4
Prieur, M.5
Lyonnet, S.6
Vekemans, M.7
Carter, N.P.8
Munnich, A.9
Colleaux, L.10
Cormier-Daire, V.11
-
8
-
-
84940593173
-
Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome
-
Boyle MI, Jespersgaard C, Nazaryan L, Ravn K, Brøndum-Nielsen K, Bisgaard AM, Tümer Z. 2015. Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome. Gene 572:130–134.
-
(2015)
Gene
, vol.572
, pp. 130-134
-
-
Boyle, M.I.1
Jespersgaard, C.2
Nazaryan, L.3
Ravn, K.4
Brøndum-Nielsen, K.5
Bisgaard, A.M.6
Tümer, Z.7
-
9
-
-
0000358890
-
Ein fall von symmetrischer monodaktylie durch Ulnadefekt, mit symmetrischer flughautbildung in den ellenbeugen, sowie anderen abnormitaten (zwerghaf-togkeit, halsrippen, behaarung)
-
Brachmann W. 1916. Ein fall von symmetrischer monodaktylie durch Ulnadefekt, mit symmetrischer flughautbildung in den ellenbeugen, sowie anderen abnormitaten (zwerghaf-togkeit, halsrippen, behaarung). Jarb Kinder Phys Erzie 84:225–235.
-
(1916)
Jarb Kinder Phys Erzie
, vol.84
, pp. 225-235
-
-
Brachmann, W.1
-
10
-
-
0027358361
-
Mild mental retardation with classic somatic phenotype in the Brachmann-de Lange syndrome
-
Clericuzio CL. 1993. Mild mental retardation with classic somatic phenotype in the Brachmann-de Lange syndrome. Am J Med Genet 47:992–994.
-
(1993)
Am J Med Genet
, vol.47
, pp. 992-994
-
-
Clericuzio, C.L.1
-
11
-
-
0001547083
-
Sur un type nouveau de dégénération (typus Amstelodamensis)
-
de Lange C. 1933. Sur un type nouveau de dégénération (typus Amstelodamensis). Arch Med Enfants 36:713–7193.
-
(1933)
Arch Med Enfants
, vol.36
, pp. 713-7193
-
-
de Lange, C.1
-
12
-
-
33847196427
-
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation
-
Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. 2007. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet 80:485–494.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 485-494
-
-
Deardorff, M.A.1
Kaur, M.2
Yaeger, D.3
Rampuria, A.4
Korolev, S.5
Pie, J.6
Gil-Rodríguez, C.7
Arnedo, M.8
Loeys, B.9
Kline, A.D.10
Wilson, M.11
Lillquist, K.12
Siu, V.13
Ramos, F.J.14
Musio, A.15
Jackson, L.S.16
Dorsett, D.17
Krantz, I.D.18
-
13
-
-
84862142852
-
RAD21 mutations cause a human cohesinopathy
-
Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Mönnich M, Yan Y, Xu W, Gil-Rodríguez MC, Clark D, Hakonarson H, Halbach S, Michelis LD, Rampuria A, Rossier E, Spranger S, Van Maldergem L, Lynch SA, Gillessen-Kaesbach G, Lüdecke HJ, Ramsay RG, McKay MJ, Krantz ID, Xu H, Horsfield JA, Kaiser FJ. 2012a. RAD21 mutations cause a human cohesinopathy. Am J Hum Genet 8:1014–1027.
-
(2012)
Am J Hum Genet
, vol.8
, pp. 1014-1027
-
-
Deardorff, M.A.1
Wilde, J.J.2
Albrecht, M.3
Dickinson, E.4
Tennstedt, S.5
Braunholz, D.6
Mönnich, M.7
Yan, Y.8
Xu, W.9
Gil-Rodríguez, M.C.10
Clark, D.11
Hakonarson, H.12
Halbach, S.13
Michelis, L.D.14
Rampuria, A.15
Rossier, E.16
Spranger, S.17
Van Maldergem, L.18
Lynch, S.A.19
Gillessen-Kaesbach, G.20
Lüdecke, H.J.21
Ramsay, R.G.22
McKay, M.J.23
Krantz, I.D.24
Xu, H.25
Horsfield, J.A.26
Kaiser, F.J.27
more..
-
14
-
-
84866183822
-
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
-
Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K. 2012b. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature 13:313–317.
-
(2012)
Nature
, vol.13
, pp. 313-317
-
-
Deardorff, M.A.1
Bando, M.2
Nakato, R.3
Watrin, E.4
Itoh, T.5
Minamino, M.6
Saitoh, K.7
Komata, M.8
Katou, Y.9
Clark, D.10
Cole, K.E.11
De Baere, E.12
Decroos, C.13
Di Donato, N.14
Ernst, S.15
Francey, L.J.16
Gyftodimou, Y.17
Hirashima, K.18
Hullings, M.19
Ishikawa, Y.20
Jaulin, C.21
Kaur, M.22
Kiyono, T.23
Lombardi, P.M.24
Magnaghi-Jaulin, L.25
Mortier, G.R.26
Nozaki, N.27
Petersen, M.B.28
Seimiya, H.29
Siu, V.M.30
Suzuki, Y.31
Takagaki, K.32
Wilde, J.J.33
Willems, P.J.34
Prigent, C.35
Gillessen-Kaesbach, G.36
Christianson, D.W.37
Kaiser, F.J.38
Jackson, L.G.39
Hirota, T.40
Krantz, I.D.41
Shirahige, K.42
more..
-
15
-
-
4644296379
-
Adherin: Key to the cohesin ring and cornelia de Lange syndrome
-
Dorsett D. 2004. Adherin: Key to the cohesin ring and cornelia de Lange syndrome. Curr Biol 14:R834–R836.
-
(2004)
Curr Biol
, vol.14
, pp. R834-R836
-
-
Dorsett, D.1
-
16
-
-
33846599680
-
Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes
-
Dorsett D. 2007. Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes. Chromosoma 116:1–13.
-
(2007)
Chromosoma
, vol.116
, pp. 1-13
-
-
Dorsett, D.1
-
17
-
-
58149158042
-
On the molecular etiology of Cornelia de Lange syndrome
-
Dorsett D, Krantz ID. 2009. On the molecular etiology of Cornelia de Lange syndrome. Ann N Y Acad Sci 1151:22–37.
-
(2009)
Ann N Y Acad Sci
, vol.1151
, pp. 22-37
-
-
Dorsett, D.1
Krantz, I.D.2
-
18
-
-
84875685836
-
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
-
Gervasini C, Picinelli C, Azzollini J, Rusconi D, Masciadri M, Cereda A, Marzocchi C, Zampino G, Selicorni A, Tenconi R, Russo S, Larizza Finelli LP. 2013. Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome. BMC Med Genet 14:41.
-
(2013)
BMC Med Genet
, vol.14
, pp. 41
-
-
Gervasini, C.1
Picinelli, C.2
Azzollini, J.3
Rusconi, D.4
Masciadri, M.5
Cereda, A.6
Marzocchi, C.7
Zampino, G.8
Selicorni, A.9
Tenconi, R.10
Russo, S.11
Larizza Finelli, L.P.12
-
19
-
-
4544253309
-
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations
-
Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, Devoto M, Jackson LG, Krantz ID. 2004. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet 75:610–623.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 610-623
-
-
Gillis, L.A.1
McCallum, J.2
Kaur, M.3
DeScipio, C.4
Yaeger, D.5
Mariani, A.6
Kline, A.D.7
Li, H.H.8
Devoto, M.9
Jackson, L.G.10
Krantz, I.D.11
-
20
-
-
84925845145
-
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes
-
Gil-Rodriguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernandez-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié A, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gomez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RCM, Kaiser FJ, FitzPatrick DR, Juan Pié J. 2015. De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat 36:454–462.
-
(2015)
Hum Mutat
, vol.36
, pp. 454-462
-
-
Gil-Rodriguez, M.C.1
Deardorff, M.A.2
Ansari, M.3
Tan, C.A.4
Parenti, I.5
Baquero-Montoya, C.6
Ousager, L.B.7
Puisac, B.8
Hernandez-Marcos, M.9
Teresa-Rodrigo, M.E.10
Marcos-Alcalde, I.11
Wesselink, J.J.12
Lusa-Bernal, S.13
Bijlsma, E.K.14
Braunholz, D.15
Bueno-Martinez, I.16
Clark, D.17
Cooper, N.S.18
Curry, C.J.19
Fisher, R.20
Fryer, A.21
Ganesh, J.22
Gervasini, C.23
Gillessen-Kaesbach, G.24
Guo, Y.25
Hakonarson, H.26
Hopkin, R.J.27
Kaur, M.28
Keating, B.J.29
Kibaek, M.30
Kinning, E.31
Kleefstra, T.32
Kline, A.D.33
Kuchinskaya, E.34
Larizza, L.35
Li, Y.R.36
Liu, X.37
Mariani, M.38
Picker, J.D.39
Pié, A.40
Pozojevic, J.41
Queralt, E.42
Richer, J.43
Roeder, E.44
Sinha, A.45
Scott, R.H.46
So, J.47
Wusik, K.A.48
Wilson, L.49
Zhang, J.50
Gomez-Puertas, P.51
Casale, C.H.52
Ström, L.53
Selicorni, A.54
Ramos, F.J.55
Jackson, L.G.56
Krantz, I.D.57
Das, S.58
Hennekam, R.C.M.59
Kaiser, F.J.60
FitzPatrick, D.R.61
Juan Pié, J.62
more..
-
21
-
-
84945963620
-
Novel SMC1A frameshift mutations in children with developmental delay and epilepsy
-
Goldstein JHR, Tim-aroon T, Shieh J, Merrill M, Deeb KK, Zhang S, Bass NE, Bedoyan JK. 2015. Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. Eur J Med Genet 58:562–568.
-
(2015)
Eur J Med Genet
, vol.58
, pp. 562-568
-
-
Goldstein, J.H.R.1
Tim-aroon, T.2
Shieh, J.3
Merrill, M.4
Deeb, K.K.5
Zhang, S.6
Bass, N.E.7
Bedoyan, J.K.8
-
22
-
-
0027429313
-
Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome
-
Goodban MT. 1993. Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome. Am J Med Genet 47:1059–1063.
-
(1993)
Am J Med Genet
, vol.47
, pp. 1059-1063
-
-
Goodban, M.T.1
-
23
-
-
84355161987
-
In-frame Multi-Exon Deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome
-
Hoppman-Chaney N, Jang JS, Jen J, Babovic-Vuksanovic D, Hodge JC. 2012. In-frame Multi-Exon Deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome. Am J Med Genet Part A 158A:193–198.
-
(2012)
Am J Med Genet Part A
, vol.158A
, pp. 193-198
-
-
Hoppman-Chaney, N.1
Jang, J.S.2
Jen, J.3
Babovic-Vuksanovic, D.4
Hodge, J.C.5
-
24
-
-
84878883157
-
High rate of mosaicism in individuals with Cornelia de Lange syndrome
-
Huisman SA, Redeker EJW, Maas SM, Mannens MM, Hennekam RCM. 2013. High rate of mosaicism in individuals with Cornelia de Lange syndrome. J Med Genet 50:339–344.
-
(2013)
J Med Genet
, vol.50
, pp. 339-344
-
-
Huisman, S.A.1
Redeker, E.J.W.2
Maas, S.M.3
Mannens, M.M.4
Hennekam, R.C.M.5
-
25
-
-
0027423908
-
Brachmann-de Lange syndrome: Delineation of the clinical phenotype
-
Ireland M, Donnai D, Burn J. 1993. Brachmann-de Lange syndrome: Delineation of the clinical phenotype. Am J Med Genet 47:959–964.
-
(1993)
Am J Med Genet
, vol.47
, pp. 959-964
-
-
Ireland, M.1
Donnai, D.2
Burn, J.3
-
27
-
-
84900037229
-
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
-
Kaiser FJ, Ansari M, Braunholz D, Concepcion Gil-Rodriguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del CM, Di DN, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillen-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I, Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Perez-Aytes A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pie J, Christianson DW, Krantz ID, FitzPatrick DR, Deardorff MA. 2014. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet 23:2888–2900.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 2888-2900
-
-
Kaiser, F.J.1
Ansari, M.2
Braunholz, D.3
Concepcion Gil-Rodriguez, M.4
Decroos, C.5
Wilde, J.J.6
Fincher, C.T.7
Kaur, M.8
Bando, M.9
Amor, D.J.10
Atwal, P.S.11
Bahlo, M.12
Bowman, C.M.13
Bradley, J.J.14
Brunner, H.G.15
Clark, D.16
Del, C.M.17
Di, D.N.18
Diakumis, P.19
Dubbs, H.20
Dyment, D.A.21
Eckhold, J.22
Ernst, S.23
Ferreira, J.C.24
Francey, L.J.25
Gehlken, U.26
Guillen-Navarro, E.27
Gyftodimou, Y.28
Hall, B.D.29
Hennekam, R.30
Hudgins, L.31
Hullings, M.32
Hunter, J.M.33
Yntema, H.34
Innes, A.M.35
Kline, A.D.36
Krumina, Z.37
Lee, H.38
Leppig, K.39
Lynch, S.A.40
Mallozzi, M.B.41
Mannini, L.42
McKee, S.43
Mehta, S.G.44
Micule, I.45
Mohammed, S.46
Moran, E.47
Mortier, G.R.48
Moser, J.A.49
Noon, S.E.50
Nozaki, N.51
Nunes, L.52
Pappas, J.G.53
Penney, L.S.54
Perez-Aytes, A.55
Petersen, M.B.56
Puisac, B.57
Revencu, N.58
Roeder, E.59
Saitta, S.60
Scheuerle, A.E.61
Schindeler, K.L.62
Siu, V.M.63
Stark, Z.64
Strom, S.P.65
Thiese, H.66
Vater, I.67
Willems, P.68
Williamson, K.69
Wilson, L.C.70
Hakonarson, H.71
Quintero-Rivera, F.72
Wierzba, J.73
Musio, A.74
Gillessen-Kaesbach, G.75
Ramos, F.J.76
Jackson, L.G.77
Shirahige, K.78
Pie, J.79
Christianson, D.W.80
Krantz, I.D.81
FitzPatrick, D.R.82
Deardorff, M.A.83
more..
-
28
-
-
0027366922
-
Growth manifestations in the Brachmann-de Lange syndrome
-
Kline AD, Barr M, Jackson LG. 1993a. Growth manifestations in the Brachmann-de Lange syndrome. Am J Med Genet 47:1042–1049.
-
(1993)
Am J Med Genet
, vol.47
, pp. 1042-1049
-
-
Kline, A.D.1
Barr, M.2
Jackson, L.G.3
-
29
-
-
0027503882
-
Developmental data on individuals with the Brachmann-de Lange syndrome
-
Kline AD, Stanley C, Belevich J, Brodsky K, Barr M, Jackson LG. 1993b. Developmental data on individuals with the Brachmann-de Lange syndrome. Am J Med Genet 47:1053–1058.
-
(1993)
Am J Med Genet
, vol.47
, pp. 1053-1058
-
-
Kline, A.D.1
Stanley, C.2
Belevich, J.3
Brodsky, K.4
Barr, M.5
Jackson, L.G.6
-
30
-
-
34548070779
-
Natural history of aging in Cornelia de Lange syndrome
-
Kline AD, Grados M, Sponseller P, Levy HP, Blagowidow N, Schoedel C, Rampolla J, Clemens DK, Krantz I, Kimball A, Pichard C, Tuchman D. 2007. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet Part C Semin Med Genet 145C:248–260.
-
(2007)
Am J Med Genet Part C Semin Med Genet
, vol.145C
, pp. 248-260
-
-
Kline, A.D.1
Grados, M.2
Sponseller, P.3
Levy, H.P.4
Blagowidow, N.5
Schoedel, C.6
Rampolla, J.7
Clemens, D.K.8
Krantz, I.9
Kimball, A.10
Pichard, C.11
Tuchman, D.12
-
31
-
-
34249904394
-
Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance
-
Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, FitzPatrick DR, Levin AV, Selicorni A. 2007. Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet Part A 143A:1287–1296.
-
(2007)
Am J Med Genet Part A
, vol.143A
, pp. 1287-1296
-
-
Kline, A.D.1
Krantz, I.D.2
Sommer, A.3
Kliewer, M.4
Jackson, L.G.5
FitzPatrick, D.R.6
Levin, A.V.7
Selicorni, A.8
-
34
-
-
2642542322
-
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
-
Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG. 2004. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 36:631–635.
-
(2004)
Nat Genet
, vol.36
, pp. 631-635
-
-
Krantz, I.D.1
McCallum, J.2
DeScipio, C.3
Kaur, M.4
Gillis, L.A.5
Yaeger, D.6
Jukofsky, L.7
Wasserman, N.8
Bottani, A.9
Morris, C.A.10
Nowaczyk, M.J.11
Toriello, H.12
Bamshad, M.J.13
Carey, J.C.14
Rappaport, E.15
Kawauchi, S.16
Lander, A.D.17
Calof, A.L.18
Li, H.H.19
Devoto, M.20
Jackson, L.G.21
more..
-
35
-
-
0027487865
-
On the variability of the Brachmann-de Lange syndrome in seven patients
-
Leroy JG, Van de Weghe V, Van Hecke R, Oostra A, De Bie S, Craen M. 1993. On the variability of the Brachmann-de Lange syndrome in seven patients. Am J Med Genet 47:983–991.
-
(1993)
Am J Med Genet
, vol.47
, pp. 983-991
-
-
Leroy, J.G.1
Van de Weghe, V.2
Van Hecke, R.3
Oostra, A.4
De Bie, S.5
Craen, M.6
-
36
-
-
70350169074
-
Cornelia de Lange syndrome, cohesin, and beyond
-
Liu J, Krantz ID. 2009. Cornelia de Lange syndrome, cohesin, and beyond. Clin Genet 76:303–314.
-
(2009)
Clin Genet
, vol.76
, pp. 303-314
-
-
Liu, J.1
Krantz, I.D.2
-
37
-
-
70350702802
-
SMC1A expression and mechanism of pathogenicity in probands with X-linked Cornelia de Lange syndrome
-
Liu J, Feldman R, Zhang Z, Deardorff MA, Haverfield EV, Kaur M, Li JR, Clark D, Kline AD, Waggoner DJ, Das S, Jackson LG, Krantz ID. 2009a. SMC1A expression and mechanism of pathogenicity in probands with X-linked Cornelia de Lange syndrome. Hum Mutat 30:1535–1542.
-
(2009)
Hum Mutat
, vol.30
, pp. 1535-1542
-
-
Liu, J.1
Feldman, R.2
Zhang, Z.3
Deardorff, M.A.4
Haverfield, E.V.5
Kaur, M.6
Li, J.R.7
Clark, D.8
Kline, A.D.9
Waggoner, D.J.10
Das, S.11
Jackson, L.G.12
Krantz, I.D.13
-
38
-
-
66249144416
-
Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells
-
Liu J, Zhang Z, Bando M, Itoh T, Deardorff MA, Clark D, Kaur M, Tandy S, Kondoh T, Rappaport E, Spinner NB, Vega H, Jackson LG, Shirahige K, Krantz ID. 2009b. Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells. PLoS Biol 5:e1000119.
-
(2009)
PLoS Biol
, vol.5
, pp. e1000119
-
-
Liu, J.1
Zhang, Z.2
Bando, M.3
Itoh, T.4
Deardorff, M.A.5
Clark, D.6
Kaur, M.7
Tandy, S.8
Kondoh, T.9
Rappaport, E.10
Spinner, N.B.11
Vega, H.12
Jackson, L.G.13
Shirahige, K.14
Krantz, I.D.15
-
39
-
-
74049092772
-
Spectrum and consequences of SMC1A mutations: The unexpected involvement of a core component of cohesin in human disease
-
Mannini L, Liu J, Krantz ID, Musio A. 2009. Spectrum and consequences of SMC1A mutations: The unexpected involvement of a core component of cohesin in human disease. Hum Mutat 31:5–10.
-
(2009)
Hum Mutat
, vol.31
, pp. 5-10
-
-
Mannini, L.1
Liu, J.2
Krantz, I.D.3
Musio, A.4
-
40
-
-
84887615981
-
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome
-
Mannini L, Cucco F, Quarantotti V, Krantz ID, Musio A. 2013. Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. Hum Mutat 34:1589–1596.
-
(2013)
Hum Mutat
, vol.34
, pp. 1589-1596
-
-
Mannini, L.1
Cucco, F.2
Quarantotti, V.3
Krantz, I.D.4
Musio, A.5
-
41
-
-
84893674218
-
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome like presentation and report of the first familial case
-
Minor A, Shinawi M, Hogue JS, Vineyard M, Hamlin DR, Tan C, Donato K, Wysinger L, Botes S, Das S, del Gaudio D. 2014. Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome like presentation and report of the first familial case. Gene 537:279–284.
-
(2014)
Gene
, vol.537
, pp. 279-284
-
-
Minor, A.1
Shinawi, M.2
Hogue, J.S.3
Vineyard, M.4
Hamlin, D.R.5
Tan, C.6
Donato, K.7
Wysinger, L.8
Botes, S.9
Das, S.10
del Gaudio, D.11
-
42
-
-
0027435930
-
Mild Brachmann-de Lange syndrome. Phenotypic and developmental characteristics of mildly affected individuals
-
Moeschler JB, Graham JM, Jr. 1993. Mild Brachmann-de Lange syndrome. Phenotypic and developmental characteristics of mildly affected individuals. Am J Med Genet 47:969–976.
-
(1993)
Am J Med Genet
, vol.47
, pp. 969-976
-
-
Moeschler, J.B.1
Graham, J.M.2
-
43
-
-
33646379870
-
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
-
Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L. 2006. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 38:528–530.
-
(2006)
Nat Genet
, vol.38
, pp. 528-530
-
-
Musio, A.1
Selicorni, A.2
Focarelli, M.L.3
Gervasini, C.4
Milani, D.5
Russo, S.6
Vezzoni, P.7
Larizza, L.8
-
44
-
-
77951724830
-
Cornelia de Lange syndrome: Extending the physical and psychological phenotype
-
Oliver C, Bedeschi MF, Blagowidow N, Carrico CS, Cereda A, Fitzpatrick DR, Gervasini C, Griffith GM, Kline AD, Marchisio P, Moss J, Ramos FJ, Selicorni A, Tunnicliffe P, Wierzba J, Hennekam RC. 2010. Cornelia de Lange syndrome: Extending the physical and psychological phenotype. Am J Med Genet Part A 152A:1127–1135.
-
(2010)
Am J Med Genet Part A
, vol.152A
, pp. 1127-1135
-
-
Oliver, C.1
Bedeschi, M.F.2
Blagowidow, N.3
Carrico, C.S.4
Cereda, A.5
Fitzpatrick, D.R.6
Gervasini, C.7
Griffith, G.M.8
Kline, A.D.9
Marchisio, P.10
Moss, J.11
Ramos, F.J.12
Selicorni, A.13
Tunnicliffe, P.14
Wierzba, J.15
Hennekam, R.C.16
-
45
-
-
0021970795
-
The Brachmann-de Lange syndrome
-
Opitz JM. 1985. The Brachmann-de Lange syndrome. Am J Med Genet 22:89–102.
-
(1985)
Am J Med Genet
, vol.22
, pp. 89-102
-
-
Opitz, J.M.1
-
46
-
-
84955089110
-
Broadening of cohesinopathies: Exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype
-
Parenti I, Gervasini C, Pozojevic J, Graul-Neumann L, Azzollini J, Braunholz D, Watrin E, Wendt KS, Cereda A, Cittaro D, Gillessen-Kaesbach G, Lazarevic D, Mariani M, Russo S, Werner R, Krawitz P, Larizza L, Selicorni A, Kaiser FJ. 2016. Broadening of cohesinopathies: Exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. Clin Genet 89:74–81.
-
(2016)
Clin Genet
, vol.89
, pp. 74-81
-
-
Parenti, I.1
Gervasini, C.2
Pozojevic, J.3
Graul-Neumann, L.4
Azzollini, J.5
Braunholz, D.6
Watrin, E.7
Wendt, K.S.8
Cereda, A.9
Cittaro, D.10
Gillessen-Kaesbach, G.11
Lazarevic, D.12
Mariani, M.13
Russo, S.14
Werner, R.15
Krawitz, P.16
Larizza, L.17
Selicorni, A.18
Kaiser, F.J.19
-
47
-
-
84857885510
-
NIPBL rearrangements in Cornelia de Lange syndrome: Evidence for replicative mechanism and genotype-phenotype correlation
-
Pehlivan D, Hullings M, Carvalho CM, Gonzaga-Jauregui CG, Loy E, Jackson LG, Krantz ID, Deardorff MA, Lupski JR. 2012. NIPBL rearrangements in Cornelia de Lange syndrome: Evidence for replicative mechanism and genotype-phenotype correlation. Genet Med 14:313–322.
-
(2012)
Genet Med
, vol.14
, pp. 313-322
-
-
Pehlivan, D.1
Hullings, M.2
Carvalho, C.M.3
Gonzaga-Jauregui, C.G.4
Loy, E.5
Jackson, L.G.6
Krantz, I.D.7
Deardorff, M.A.8
Lupski, J.R.9
-
48
-
-
77950443282
-
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome
-
Pié J, Gil-Rodríguez MC, Ciero M, López-Viñas E, Ribate MP, Arnedo M, Deardorff MA, Puisac B, Legarreta J, de Karam JC, Rubio E, Bueno I, Baldellou A, Calvo MT, Casals N, Olivares JL, Losada A, Hegardt FG, Krantz ID, Gómez-Puertas P, Ramos FJ. 2010. Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. Am J Med Genet Part A 152A:924–929.
-
(2010)
Am J Med Genet Part A
, vol.152A
, pp. 924-929
-
-
Pié, J.1
Gil-Rodríguez, M.C.2
Ciero, M.3
López-Viñas, E.4
Ribate, M.P.5
Arnedo, M.6
Deardorff, M.A.7
Puisac, B.8
Legarreta, J.9
de Karam, J.C.10
Rubio, E.11
Bueno, I.12
Baldellou, A.13
Calvo, M.T.14
Casals, N.15
Olivares, J.L.16
Losada, A.17
Hegardt, F.G.18
Krantz, I.D.19
Gómez-Puertas, P.20
Ramos, F.J.21
more..
-
49
-
-
84944158983
-
Clinical utility gene card for: Cornelia de Lange syndrome
-
Ramos FJ, Puisac B, Baquero-Montoya C, Gil-Rodríguez MC, Bueno I, Deardorff MA, Hennekam RC, Kaiser FJ, Krantz ID, Musio A, Selicorni A, FitzPatrick DR, Pié J. 2015. Clinical utility gene card for: Cornelia de Lange syndrome. Eur J Hum Genet 23:1431.
-
(2015)
Eur J Hum Genet
, vol.23
, pp. 1431
-
-
Ramos, F.J.1
Puisac, B.2
Baquero-Montoya, C.3
Gil-Rodríguez, M.C.4
Bueno, I.5
Deardorff, M.A.6
Hennekam, R.C.7
Kaiser, F.J.8
Krantz, I.D.9
Musio, A.10
Selicorni, A.11
FitzPatrick, D.R.12
Pié, J.13
-
50
-
-
78349310111
-
Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL
-
Ratajska M, Wierzba J, Pehlivan D, Xia Z, Brundage EK, Cheung SW, Stankiewicz P, Lupski JR, Limon J. 2010. Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL. Eur J Med Genet 53:378–382.
-
(2010)
Eur J Med Genet
, vol.53
, pp. 378-382
-
-
Ratajska, M.1
Wierzba, J.2
Pehlivan, D.3
Xia, Z.4
Brundage, E.K.5
Cheung, S.W.6
Stankiewicz, P.7
Lupski, J.R.8
Limon, J.9
-
51
-
-
77954105200
-
Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey
-
Rohatgi S, Clark D, Kline AD, Jackson LG, Pie J, Siu V, Ramos FJ, Krantz ID, Deardorff MA. 2010. Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey. Am J Med Genet Part A 152A:1641–1653.
-
(2010)
Am J Med Genet Part A
, vol.152A
, pp. 1641-1653
-
-
Rohatgi, S.1
Clark, D.2
Kline, A.D.3
Jackson, L.G.4
Pie, J.5
Siu, V.6
Ramos, F.J.7
Krantz, I.D.8
Deardorff, M.A.9
-
52
-
-
84863715663
-
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients
-
Russo S, Masciadri M, Gervasini C, Azzollini J, Cereda A, Zampino G, Haas O, Scarano G, Di Rocco M, Finelli P, Tenconi R, Selicorni A, Larizza L. 2012. Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients. Eur J Hum Genet 20:734–741.
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 734-741
-
-
Russo, S.1
Masciadri, M.2
Gervasini, C.3
Azzollini, J.4
Cereda, A.5
Zampino, G.6
Haas, O.7
Scarano, G.8
Di Rocco, M.9
Finelli, P.10
Tenconi, R.11
Selicorni, A.12
Larizza, L.13
-
53
-
-
0027496221
-
Brachmann-de Lange syndrome: Diagnostic difficulties posed by the mild phenotype
-
Saul RA, Rogers RC, Phelan MC, Stevenson RE. 1993. Brachmann-de Lange syndrome: Diagnostic difficulties posed by the mild phenotype. Am J Med Genet 47:999–1002.
-
(1993)
Am J Med Genet
, vol.47
, pp. 999-1002
-
-
Saul, R.A.1
Rogers, R.C.2
Phelan, M.C.3
Stevenson, R.E.4
-
54
-
-
33846300688
-
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
-
Schoumans J, Wincent J, Barbaro M, Djureinovic T, Maguire P, Forsberg L, Staaf J, Thuresson AC, Borg A, Nordgren A, Malm G, Anderlid BM. 2007. Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients. Eur J Hum Genet 15:143–149.
-
(2007)
Eur J Hum Genet
, vol.15
, pp. 143-149
-
-
Schoumans, J.1
Wincent, J.2
Barbaro, M.3
Djureinovic, T.4
Maguire, P.5
Forsberg, L.6
Staaf, J.7
Thuresson, A.C.8
Borg, A.9
Nordgren, A.10
Malm, G.11
Anderlid, B.M.12
-
55
-
-
0027429308
-
Variability of the Brachmann-de Lange syndrome
-
Selicorni A, Lalatta F, Livini E, Briscioli V, Piguzzi T, Bagozzi DC, Mastroiacovo P, Zampino G, Gaeta G, Pugliese A, Cerutti-Mainaroli P, Guala A, Stabile M, Belli S, Franceschini P, Gianotti A, Scarano G. 1993. Variability of the Brachmann-de Lange syndrome. Am J Med Genet 47:977–982.
-
(1993)
Am J Med Genet
, vol.47
, pp. 977-982
-
-
Selicorni, A.1
Lalatta, F.2
Livini, E.3
Briscioli, V.4
Piguzzi, T.5
Bagozzi, D.C.6
Mastroiacovo, P.7
Zampino, G.8
Gaeta, G.9
Pugliese, A.10
Cerutti-Mainaroli, P.11
Guala, A.12
Stabile, M.13
Belli, S.14
Franceschini, P.15
Gianotti, A.16
Scarano, G.17
-
56
-
-
34249864290
-
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation
-
Selicorni A, Russo S, Gervasini C, Castronovo P, Milani D, Cavalleri F, Bentivegna A, Masciadri M, Domi A, Divizia MT, Sforzini C, Tarantino E, Memo L, Scarano G, Larizza L. 2007. Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. Clin Genet 72:98–108.
-
(2007)
Clin Genet
, vol.72
, pp. 98-108
-
-
Selicorni, A.1
Russo, S.2
Gervasini, C.3
Castronovo, P.4
Milani, D.5
Cavalleri, F.6
Bentivegna, A.7
Masciadri, M.8
Domi, A.9
Divizia, M.T.10
Sforzini, C.11
Tarantino, E.12
Memo, L.13
Scarano, G.14
Larizza, L.15
-
57
-
-
2642565901
-
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
-
Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T. 2004. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 36:636–641.
-
(2004)
Nat Genet
, vol.36
, pp. 636-641
-
-
Tonkin, E.T.1
Wang, T.J.2
Lisgo, S.3
Bamshad, M.J.4
Strachan, T.5
-
58
-
-
0027366126
-
Clinical variability within Brachmann-de Lange syndrome: A proposed classification system
-
Van Allen MI, Filippi G, Siegel-Bartelt J, Yong SL, McGillivray B, Zuker RM, Smith CR, Magee JF, Ritchie S, Toi A, Reynolds JF. 1993. Clinical variability within Brachmann-de Lange syndrome: A proposed classification system. Am J Med Genet 47:947–958.
-
(1993)
Am J Med Genet
, vol.47
, pp. 947-958
-
-
Van Allen, M.I.1
Filippi, G.2
Siegel-Bartelt, J.3
Yong, S.L.4
McGillivray, B.5
Zuker, R.M.6
Smith, C.R.7
Magee, J.F.8
Ritchie, S.9
Toi, A.10
Reynolds, J.F.11
-
59
-
-
33745600166
-
Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome
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Yan J, Saifi GM, Wierzba TH, Withers M, Bien-Willner GA, Limon J, Stankiewicz P, Lupski JR, Wierzba J. 2006. Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome. Am J Med Genet Part A 140A:1531–1541.
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(2006)
Am J Med Genet Part A
, vol.140A
, pp. 1531-1541
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Yan, J.1
Saifi, G.M.2
Wierzba, T.H.3
Withers, M.4
Bien-Willner, G.A.5
Limon, J.6
Stankiewicz, P.7
Lupski, J.R.8
Wierzba, J.9
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