-
1
-
-
33644857721
-
Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease
-
DOI 10.1002/ajmg.a.31087
-
Baekvad-Hansen M, Tümer Z, Delicado A, Erdogan F, Tommerup N, Larsen LA. 2006. Delineation of a 2.2Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease. Am J Med Genet Part A 140A:427-433. (Pubitemid 43376314)
-
(2006)
American Journal of Medical Genetics
, vol.140 A
, Issue.5
, pp. 427-433
-
-
Baekvad-Hansen, M.1
Tumer, Z.2
Delicado, A.3
Erdogan, F.4
Tommerup, N.5
Larsen, L.A.6
-
3
-
-
62849121751
-
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion
-
Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater HR, Moncla A, Scheffer IE, Guerrini R. 2009. Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. Neurology 72:784-792.
-
(2009)
Neurology
, vol.72
, pp. 784-792
-
-
Cardoso, C.1
Boys, A.2
Parrini, E.3
Mignon-Ravix, C.4
McMahon, J.M.5
Khantane, S.6
Bertini, E.7
Pallesi, E.8
Missirian, C.9
Zuffardi, O.10
Novara, F.11
Villard, L.12
Giglio, S.13
Chabrol, B.14
Slater, H.R.15
Moncla, A.16
Scheffer, I.E.17
Guerrini, R.18
-
4
-
-
34848817416
-
SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma
-
DOI 10.1093/hmg/ddm204
-
Gregory-Evans CY, Moosajee M, Hodges MD, Mackay DS, Game L, Vargesson N, Bloch-Zupan A, Rüschendorf F, Santos-Pinto L, Wackens G, Gregory-Evans K. 2007. SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma. Hum Mol Genet 16:2482-2493. (Pubitemid 47500634)
-
(2007)
Human Molecular Genetics
, vol.16
, Issue.20
, pp. 2482-2493
-
-
Gregory-Evans, C.Y.1
Moosajee, M.2
Hodges, M.D.3
Mackay, D.S.4
Game, L.5
Vargesson, N.6
Bloch-Zupan, A.7
Ruschendorf, F.8
Santos-Pinto, L.9
Wackens, G.10
Gregory-Evans, K.11
-
5
-
-
41149106868
-
Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project
-
DOI 10.1016/j.ajhg.2008.01.011, PII S0002929708001596
-
Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, Kishikawa S, Korf BR, Kulkarni S, Lally E, Leach NT, Lemyre E, Lewis J, Ligon AH, Lu W, Maas RL, MacDonald ME, Moore SD, Peters RE, Quade BJ, Quintero-Rivera F, Saadi I, Shen Y, Shendure J, Williamson RE, Morton CC. 2008. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet 82:712-722. (Pubitemid 351735959)
-
(2008)
American Journal of Human Genetics
, 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.P.5
Donovan, D.J.6
Eisenman, R.7
Fan, Y.8
Farra, C.G.9
Ferguson, H.L.10
Gusella, J.F.11
Harris, D.J.12
Herrick, S.R.13
Kelly, C.14
Kim, H.-G.15
Kishikawa, S.16
Korf, B.R.17
Kulkarni, S.18
Lally, E.19
Leach, N.T.20
Lemyre, E.21
Lewis, J.22
Ligon, A.H.23
Lu, W.24
Maas, R.L.25
MacDonald, M.E.26
Moore, S.D.P.27
Peters, R.E.28
Quade, B.J.29
Quintero-Rivera, F.30
Saadi, I.31
Shen, Y.32
Shendure, J.33
Williamson, R.E.34
Morton, C.C.35
more..
-
6
-
-
33645393665
-
Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature
-
Malan V, Martinovic J, Sanlaville D, Caillat S, Waill MC, Ganne ML, Tantau J, Attie-Bitach T, Vekemans M, Morichon-Delvallez N. 2006. Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature. Prenat Diagn 26:231-238.
-
(2006)
Prenat Diagn
, vol.26
, pp. 231-238
-
-
Malan, V.1
Martinovic, J.2
Sanlaville, D.3
Caillat, S.4
Waill, M.C.5
Ganne, M.L.6
Tantau, J.7
Attie-Bitach, T.8
Vekemans, M.9
Morichon-Delvallez, N.10
-
7
-
-
33644856869
-
Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences
-
DOI 10.1002/ajmg.a.31105
-
Tzschach A, Krause-Plonka I, Menzel C, Kalscheuer V, Toennies H, Scherthan H, Knoblauch A, Radke M, Ropers HH, Hoeltzenbein M. 2006. Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences. Am J Med Genet Part A 140A:496-502. (Pubitemid 43376322)
-
(2006)
American Journal of Medical Genetics
, vol.140 A
, Issue.5
, pp. 496-502
-
-
Tzschach, A.1
Krause-Plonka, I.2
Menzel, C.3
Kalscheuer, V.4
Toennies, H.5
Scherthan, H.6
Knoblauch, A.7
Radke, M.8
Ropers, H.-H.9
Hoeltzenbein, M.10
|