-
1
-
-
0030671068
-
Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: Dose effect of the PAX6 gene product?
-
Aalfs CM, Fantes JA, Wenniger-Prick LJ, Sluijter S, Hennekam RC, van Heyningen V, Hoovers JM (1997) Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: Dose effect of the PAX6 gene product? Am J Med Genet 73:267-271
-
(1997)
Am J Med Genet
, vol.73
, pp. 267-271
-
-
Aalfs, C.M.1
Fantes, J.A.2
Wenniger-Prick, L.J.3
Sluijter, S.4
Hennekam, R.C.5
van Heyningen, V.6
Hoovers, J.M.7
-
2
-
-
46949100005
-
Congenital malformations of the nervous system
-
In: Panteliadis C, Darras B (eds) Thessaloniki
-
Arvanitis D (1999) Congenital malformations of the nervous system. In: Panteliadis C, Darras B (eds) Encyclopaedia of peadiatric neurology, Thessaloniki
-
(1999)
Encyclopaedia of Peadiatric Neurology
-
-
Arvanitis, D.1
-
3
-
-
0347916881
-
Comparative genomic analysis of the eight-membered ring cystine knot-containing bone morphogenetic protein antagonists
-
Avsian-Kretchmer O, Hsueh AJ (2004) Comparative genomic analysis of the eight-membered ring cystine knot-containing bone morphogenetic protein antagonists. Mol Endocrinol 18:1-12
-
(2004)
Mol Endocrinol
, vol.18
, pp. 1-12
-
-
Avsian-Kretchmer, O.1
Hsueh, A.J.2
-
4
-
-
0031576373
-
C2H2-171: A novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain
-
Becker KG, Lee IJ, Nagle JW, Canning RD, Gado AM, Torres R, Polymeropoulos MH, Massa PT, Biddison WE, Drew PD (1997) C2H2-171: A novel human cDNA representing a developmentally regulated POZ domain/ zinc finger protein preferentially expressed in brain. Int J Dev Neurosci 15:891-899
-
(1997)
Int J Dev Neurosci
, vol.15
, pp. 891-899
-
-
Becker, K.G.1
Lee, I.J.2
Nagle, J.W.3
Canning, R.D.4
Gado, A.M.5
Torres, R.6
Polymeropoulos, M.H.7
Massa, P.T.8
Biddison, W.E.9
Drew, P.D.10
-
5
-
-
33644554160
-
Agenesis of corpus callosum: Clinical and genetic study in 63 young patients
-
Bedeschi M, Bonaglia M, Grasso R, Pellegri A, Garghentino R, Battaglia M, Panarisi A, Rocco M, Balottin U, Bresolin N, Bassi M, Borgatti R (2006) Agenesis of corpus callosum: Clinical and genetic study in 63 young patients. Pediatr Neurol 34:186-193
-
(2006)
Pediatr Neurol
, vol.34
, pp. 186-193
-
-
Bedeschi, M.1
Bonaglia, M.2
Grasso, R.3
Pellegri, A.4
Garghentino, R.5
Battaglia, M.6
Panarisi, A.7
Rocco, M.8
Balottin, U.9
Bresolin, N.10
Bassi, M.11
Borgatti, R.12
-
6
-
-
34547786100
-
Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum
-
Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr EH, Dobyns WB, Black GC (2007) Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet 81:292-303
-
(2007)
Am J Hum Genet
, vol.81
, pp. 292-303
-
-
Boland, E.1
Clayton-Smith, J.2
Woo, V.G.3
McKee, S.4
Manson, F.D.5
Medne, L.6
Zackai, E.7
Swanson, E.A.8
Fitzpatrick, D.9
Millen, K.J.10
Sherr, E.H.11
Dobyns, W.B.12
Black, G.C.13
-
7
-
-
0032231333
-
A chromosomal deletion map of human malformations
-
Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D (1998) A chromosomal deletion map of human malformations. Am J Hum Genet 63:1153-1159
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1153-1159
-
-
Brewer, C.1
Holloway, S.2
Zawalnyski, P.3
Schinzel, A.4
FitzPatrick, D.5
-
8
-
-
0033361899
-
A chromosomal duplication map of malformations: Regions of suspected haplo- and triplolethality - And tolerance of segmental aneuploidy - In humans
-
Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D (1999) A chromosomal duplication map of malformations: Regions of suspected haplo- and triplolethality - and tolerance of segmental aneuploidy - in humans. Am J Hum Genet 64:1702-1708
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1702-1708
-
-
Brewer, C.1
Holloway, S.2
Zawalnyski, P.3
Schinzel, A.4
FitzPatrick, D.5
-
9
-
-
0027402372
-
Preliminary definition of a "critical region" of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature
-
Brown S, Gersen S, Anyane-Yeboa K, Warburton D (1993) Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am J Med Genet 45:52-59
-
(1993)
Am J Med Genet
, vol.45
, pp. 52-59
-
-
Brown, S.1
Gersen, S.2
Anyane-Yeboa, K.3
Warburton, D.4
-
10
-
-
12244277605
-
Molecular cloning and characterisation of a novel GABAB-related G-protein coupled receptor
-
Calver AR, Michalovich D, Testa TT, Robbins MJ, Jaillard C, Hill J, Szekeres PG, Charles KJ, Jourdain S, Holbrook JD, Boyfield I, Patel N, Medhurst AD, Pangalos MN (2003) Molecular cloning and characterisation of a novel GABAB-related G-protein coupled receptor. Brain Res Mol Brain Res 110:305-317
-
(2003)
Brain Res Mol Brain Res
, vol.110
, pp. 305-317
-
-
Calver, A.R.1
Michalovich, D.2
Testa, T.T.3
Robbins, M.J.4
Jaillard, C.5
Hill, J.6
Szekeres, P.G.7
Charles, K.J.8
Jourdain, S.9
Holbrook, J.D.10
Boyfield, I.11
Patel, N.12
Medhurst, A.D.13
Pangalos, M.N.14
-
11
-
-
37249038572
-
Status of the human malformation map: 2007
-
Carey JC, Viskochil DH (2007) Status of the human malformation map: 2007. Am J Med Genet A 143:2868-2885
-
(2007)
Am J Med Genet A
, vol.143
, pp. 2868-2885
-
-
Carey, J.C.1
Viskochil, D.H.2
-
13
-
-
0035888111
-
Problems in the definition of holoprosencephaly
-
Cohen MM Jr (2001) Problems in the definition of holoprosencephaly. Am J Med Genet 103:183-187
-
(2001)
Am J Med Genet
, vol.103
, pp. 183-187
-
-
Cohen Jr., M.M.1
-
14
-
-
25444432040
-
Diagnostic genome profiling in mental retardation
-
de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, Janssen IM, Reijmersdal S, Nillesen WM, Huys EH, Leeuw N, Smeets D, Sistermans EA, Feuth T, van Ravenswaaij-Arts CM, van Kessel AG, Schoenmakers EF, Brunner HG, Veltman JA (2005) Diagnostic genome profiling in mental retardation. Am J Hum Genet 77:606-616
-
(2005)
Am J Hum Genet
, vol.77
, pp. 606-616
-
-
de Vries, B.B.1
Pfundt, R.2
Leisink, M.3
Koolen, D.A.4
Vissers, L.E.5
Janssen, I.M.6
Reijmersdal, S.7
Nillesen, W.M.8
Huys, E.H.9
Leeuw, N.10
Smeets, D.11
Sistermans, E.A.12
Feuth, T.13
van Ravenswaaij-Arts, C.M.14
van Kessel, A.G.15
Schoenmakers, E.F.16
Brunner, H.G.17
Veltman, J.A.18
-
15
-
-
0029655911
-
Absence makes the search grow longer
-
Dobyns WB (1996) Absence makes the search grow longer. Am J Hum Genet 58:7-16
-
(1996)
Am J Hum Genet
, vol.58
, pp. 7-16
-
-
Dobyns, W.B.1
-
16
-
-
0041319265
-
FISH and cytogenetic characterization of a terminal chromosome 1q deletion: Clinical case report and phenotypic implications
-
Gentile M, Di Carlo A, Volpe P, Pansini A, Nanna P, Valenzano MC, Buonadonna AL (2003) FISH and cytogenetic characterization of a terminal chromosome 1q deletion: Clinical case report and phenotypic implications. Am J Med Genet A 117:251-254
-
(2003)
Am J Med Genet A
, vol.117
, pp. 251-254
-
-
Gentile, M.1
Di Carlo, A.2
Volpe, P.3
Pansini, A.4
Nanna, P.5
Valenzano, M.C.6
Buonadonna, A.L.7
-
17
-
-
15844421228
-
The ZIC gene family in development and disease
-
Grinberg I, Millen KJ (2005) The ZIC gene family in development and disease. Clin Genet 67:290-296
-
(2005)
Clin Genet
, vol.67
, pp. 290-296
-
-
Grinberg, I.1
Millen, K.J.2
-
18
-
-
6944220087
-
Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation
-
Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ (2004) Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. Nat Genet 36:1053-1055
-
(2004)
Nat Genet
, vol.36
, pp. 1053-1055
-
-
Grinberg, I.1
Northrup, H.2
Ardinger, H.3
Prasad, C.4
Dobyns, W.B.5
Millen, K.J.6
-
19
-
-
0037743605
-
Specification of dorsal telencephalic character by sequential Wnt and FGF signaling
-
Gunhaga L, Marklund M, Sjodal M, Hsieh JC, Jessell TM, Edlund T (2003) Specification of dorsal telencephalic character by sequential Wnt and FGF signaling. Nat Neurosci 6:701-707
-
(2003)
Nat Neurosci
, vol.6
, pp. 701-707
-
-
Gunhaga, L.1
Marklund, M.2
Sjodal, M.3
Hsieh, J.C.4
Jessell, T.M.5
Edlund, T.6
-
20
-
-
0035280521
-
Characterization of a novel human opsin gene with wide tissue expression and identification of embedded and flanking genes on chromosome 1q43
-
Halford S, Freedman MS, Bellingham J, Inglis SL, Poopalasundaram S, Soni BG, Foster RG, Hunt DM (2001) Characterization of a novel human opsin gene with wide tissue expression and identification of embedded and flanking genes on chromosome 1q43. Genomics 72:203-208
-
(2001)
Genomics
, vol.72
, pp. 203-208
-
-
Halford, S.1
Freedman, M.S.2
Bellingham, J.3
Inglis, S.L.4
Poopalasundaram, S.5
Soni, B.G.6
Foster, R.G.7
Hunt, D.M.8
-
21
-
-
23244447637
-
BT-IgSF, a novel immunoglobulin superfamily protein, functions as a cell adhesion molecule
-
Harada H, Suzu S, Hayashi Y, Okada S (2005) BT-IgSF, a novel immunoglobulin superfamily protein, functions as a cell adhesion molecule. J Cell Physiol 204:919-926
-
(2005)
J Cell Physiol
, vol.204
, pp. 919-926
-
-
Harada, H.1
Suzu, S.2
Hayashi, Y.3
Okada, S.4
-
22
-
-
0034774605
-
Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype
-
Joly G, Lapierre JM, Ozilou C, Gosset P, Aurias A, de Blois MC, Prieur M, Raoul O, Colleaux L, Munnich A, Romana S, Vekemans M, Turleau C (2001) Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype. Clin Genet 60:212-219
-
(2001)
Clin Genet
, vol.60
, pp. 212-219
-
-
Joly, G.1
Lapierre, J.M.2
Ozilou, C.3
Gosset, P.4
Aurias, A.5
de Blois, M.C.6
Prieur, M.7
Raoul, O.8
Colleaux, L.9
Munnich, A.10
Romana, S.11
Vekemans, M.12
Turleau, C.13
-
23
-
-
0024418401
-
Tandem Y/6 translocation with partial deletion 6 (p23-pter)
-
Kelly PC, Blake WW, Davis JR (1989) Tandem Y/6 translocation with partial deletion 6 (p23-pter). Clin Genet 36:204-207
-
(1989)
Clin Genet
, vol.36
, pp. 204-207
-
-
Kelly, P.C.1
Blake, W.W.2
Davis, J.R.3
-
24
-
-
0036550633
-
Expression of WRCH1 in human cancer and down-regulation of WRCH1 by beta-estradiol in MCF-7 cells
-
Kirikoshi H, Katoh M (2002) Expression of WRCH1 in human cancer and down-regulation of WRCH1 by beta-estradiol in MCF-7 cells. Int J Oncol 20:777-783
-
(2002)
Int J Oncol
, vol.20
, pp. 777-783
-
-
Kirikoshi, H.1
Katoh, M.2
-
25
-
-
16444384270
-
Case report: Y;6 translocation with deletion of 6p
-
Klein OD, Backstrand K, Cotter PD, Marco E, Sherr E, Slavotinek A (2005) Case report: Y;6 translocation with deletion of 6p. Clin Dysmorphol 14:93-96
-
(2005)
Clin Dysmorphol
, vol.14
, pp. 93-96
-
-
Klein, O.D.1
Backstrand, K.2
Cotter, P.D.3
Marco, E.4
Sherr, E.5
Slavotinek, A.6
-
26
-
-
0004293174
-
-
3rd edn. Churchill Livingstone, New York
-
Larsen W (2001) Human embryology, 3rd edn. Churchill Livingstone, New York
-
(2001)
Human Embryology
-
-
Larsen, W.1
-
27
-
-
33748549597
-
Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum
-
Lawson-Yuen A, Berend SA, Soul JS, Irons M (2006) Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum. Clin Dysmorphol 15:217-220
-
(2006)
Clin Dysmorphol
, vol.15
, pp. 217-220
-
-
Lawson-Yuen, A.1
Berend, S.A.2
Soul, J.S.3
Irons, M.4
-
28
-
-
0034191965
-
Formin-2, a novel formin homology protein of the cappuccino subfamily, is highly expressed in the developing and adult central nervous system
-
Leader B, Leder P (2000) Formin-2, a novel formin homology protein of the cappuccino subfamily, is highly expressed in the developing and adult central nervous system. Mech Dev 93:221-231
-
(2000)
Mech Dev
, vol.93
, pp. 221-231
-
-
Leader, B.1
Leder, P.2
-
30
-
-
22044447468
-
Terminal deletion of 6p results in a recognizable phenotype
-
Lin RJ, Cherry AM, Chen KC, Lyons M, Hoyme HE, Hudgins L (2005) Terminal deletion of 6p results in a recognizable phenotype. Am J Med Genet A 136:162-168
-
(2005)
Am J Med Genet A
, vol.136
, pp. 162-168
-
-
Lin, R.J.1
Cherry, A.M.2
Chen, K.C.3
Lyons, M.4
Hoyme, H.E.5
Hudgins, L.6
-
31
-
-
0031040866
-
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome
-
Lo Nigro C, Chong CS, Smith AC, Dobyns WB, Carrozzo R, Ledbetter DH (1997) Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Mol Genet 6:157-164
-
(1997)
Hum Mol Genet
, vol.6
, pp. 157-164
-
-
Lo Nigro, C.1
Chong, C.S.2
Smith, A.C.3
Dobyns, W.B.4
Carrozzo, R.5
Ledbetter, D.H.6
-
32
-
-
0034105691
-
Neural tube defects and the 13q deletion syndrome: Evidence for a critical region in 13q33-34
-
Luo J, Balkin N, Stewart JF, Sarwark JF, Charrow J, Nye JS (2000) Neural tube defects and the 13q deletion syndrome: Evidence for a critical region in 13q33-34. Am J Med Genet 91:227-230
-
(2000)
Am J Med Genet
, vol.91
, pp. 227-230
-
-
Luo, J.1
Balkin, N.2
Stewart, J.F.3
Sarwark, J.F.4
Charrow, J.5
Nye, J.S.6
-
33
-
-
0027279190
-
Autosomal imbalance syndromes: Genetic interactions and the origin of congenital malformations in aneuploidy syndromes
-
Lurie IW (1993) Autosomal imbalance syndromes: Genetic interactions and the origin of congenital malformations in aneuploidy syndromes. Am J Med Genet 47:410-416
-
(1993)
Am J Med Genet
, vol.47
, pp. 410-416
-
-
Lurie, I.W.1
-
34
-
-
0037020216
-
Hedgehog-mediated patterning of the mammalian embryo requires transporter-like function of dispatched
-
Ma Y, Erkner A, Gong R, Yao S, Taipale J, Basler K, Beachy PA (2002) Hedgehog-mediated patterning of the mammalian embryo requires transporter-like function of dispatched. Cell 111:63-75
-
(2002)
Cell
, vol.111
, pp. 63-75
-
-
Ma, Y.1
Erkner, A.2
Gong, R.3
Yao, S.4
Taipale, J.5
Basler, K.6
Beachy, P.A.7
-
35
-
-
33747054494
-
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: A new series of 140 patients and review of published reports
-
Menten B, Maas N, Thienpont B, Buysse K, Vandesompele J, Melotte C, de Ravel T, Van Vooren S, Balikova I, Backx L, Janssens S, De Paepe A, De Moor B, Moreau Y, Marynen P, Fryns JP, Mortier G, Devriendt K, Speleman F, Vermeesch JR (2006) Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: A new series of 140 patients and review of published reports. J Med Genet 43:625-633
-
(2006)
J Med Genet
, vol.43
, pp. 625-633
-
-
Menten, B.1
Maas, N.2
Thienpont, B.3
Buysse, K.4
Vandesompele, J.5
Melotte, C.6
de Ravel, T.7
Van Vooren, S.8
Balikova, I.9
Backx, L.10
Janssens, S.11
De Paepe, A.12
De Moor, B.13
Moreau, Y.14
Marynen, P.15
Fryns, J.P.16
Mortier, G.17
Devriendt, K.18
Speleman, F.19
Vermeesch, J.R.20
more..
-
36
-
-
4644244221
-
Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes
-
Mirza G, Williams RR, Mohammed S, Clark R, Newbury-Ecob R, Baldinger S, Flinter F, Ragoussis J (2004) Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes. Eur J Hum Genet 12:718-728
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 718-728
-
-
Mirza, G.1
Williams, R.R.2
Mohammed, S.3
Clark, R.4
Newbury-Ecob, R.5
Baldinger, S.6
Flinter, F.7
Ragoussis, J.8
-
37
-
-
0037766786
-
DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: Regulation and loss of interaction with mutation
-
Morris JA, Kandpal G, Ma L, Austin CP (2003) DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: Regulation and loss of interaction with mutation. Hum Mol Genet 12:1591-1608
-
(2003)
Hum Mol Genet
, vol.12
, pp. 1591-1608
-
-
Morris, J.A.1
Kandpal, G.2
Ma, L.3
Austin, C.P.4
-
39
-
-
0033604913
-
Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro
-
Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (1999) Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res 6:63-70
-
(1999)
DNA Res
, vol.6
, pp. 63-70
-
-
Nagase, T.1
Ishikawa, K.2
Suyama, M.3
Kikuno, R.4
Hirosawa, M.5
Miyajima, N.6
Tanaka, A.7
Kotani, H.8
Nomura, N.9
Ohara, O.10
-
40
-
-
0037422609
-
Disrupted-in-Schizophrenia-1 (DISC-1): Mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth
-
Ozeki Y, Tomoda T, Kleiderlein J, Kamiya A, Bord L, Fujii K, Okawa M, Yamada N, Hatten ME, Snyder SH, Ross CA, Sawa A (2003) Disrupted-in-Schizophrenia-1 (DISC-1): Mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth. Proc Natl Acad Sci USA 100:289-294
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 289-294
-
-
Ozeki, Y.1
Tomoda, T.2
Kleiderlein, J.3
Kamiya, A.4
Bord, L.5
Fujii, K.6
Okawa, M.7
Yamada, N.8
Hatten, M.E.9
Snyder, S.H.10
Ross, C.A.11
Sawa, A.12
-
42
-
-
0036674092
-
Analysis and classification of cerebellar malformations
-
Patel S, Barkovich AJ (2002) Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol 23:1074-1087
-
(2002)
AJNR Am J Neuroradiol
, vol.23
, pp. 1074-1087
-
-
Patel, S.1
Barkovich, A.J.2
-
43
-
-
0029983910
-
cDNA cloning and structural analysis of the human limbic-system-associated membrane protein (LAMP)
-
Pimenta AF, Fischer I, Levitt P (1996) cDNA cloning and structural analysis of the human limbic-system-associated membrane protein (LAMP). Gene 170:189-195
-
(1996)
Gene
, vol.170
, pp. 189-195
-
-
Pimenta, A.F.1
Fischer, I.2
Levitt, P.3
-
44
-
-
0031786268
-
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25
-
Pirola B, Bortotto L, Giglio S, Piovan E, Janes A, Guerrini R, Zuffardi O (1998) Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. J Med Genet 35:1031-1033
-
(1998)
J Med Genet
, vol.35
, pp. 1031-1033
-
-
Pirola, B.1
Bortotto, L.2
Giglio, S.3
Piovan, E.4
Janes, A.5
Guerrini, R.6
Zuffardi, O.7
-
45
-
-
33749469512
-
Clinical experience with array CGH: Case presentations from nine months of practice
-
Poss AF, Goldenberg PC, Rehder CW, Kearney HM, Melvin EC, Koeberl DD, McDonald MT (2006) Clinical experience with array CGH: Case presentations from nine months of practice. Am J Med Genet A 140:2050-2056
-
(2006)
Am J Med Genet A
, vol.140
, pp. 2050-2056
-
-
Poss, A.F.1
Goldenberg, P.C.2
Rehder, C.W.3
Kearney, H.M.4
Melvin, E.C.5
Koeberl, D.D.6
McDonald, M.T.7
-
46
-
-
0029099297
-
Isolation of cDNA clones encoding eight different human G protein gamma subunits, including three novel forms designated the gamma 4, gamma 10, and gamma 11 subunits
-
Ray K, Kunsch C, Bonner LM, Robishaw JD (1995) Isolation of cDNA clones encoding eight different human G protein gamma subunits, including three novel forms designated the gamma 4, gamma 10, and gamma 11 subunits. J Biol Chem 270:21765-21771
-
(1995)
J Biol Chem
, vol.270
, pp. 21765-21771
-
-
Ray, K.1
Kunsch, C.2
Bonner, L.M.3
Robishaw, J.D.4
-
47
-
-
32944465548
-
Array-CGH detection of micro rearrangements in mentally retarded individuals: Clinical significance of imbalances present both in affected children and normal parents
-
Rosenberg C, Knijnenburg J, Bakker E, Vianna-Morgante AM, Sloos W, Otto PA, Kriek M, Hansson K, Krepischi-Santos AC, Fiegler H, Carter NP, Bijlsma EK, van Haeringen A, Szuhai K, Tanke HJ (2006) Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. J Med Genet 43:180-186
-
(2006)
J Med Genet
, vol.43
, pp. 180-186
-
-
Rosenberg, C.1
Knijnenburg, J.2
Bakker, E.3
Vianna-Morgante, A.M.4
Sloos, W.5
Otto, P.A.6
Kriek, M.7
Hansson, K.8
Krepischi-Santos, A.C.9
Fiegler, H.10
Carter, N.P.11
Bijlsma, E.K.12
van Haeringen, A.13
Szuhai, K.14
Tanke, H.J.15
-
48
-
-
29644444482
-
CNS malformations: Gene locations of known human mutations
-
Sarnat HB (2005) CNS malformations: Gene locations of known human mutations. Eur J Paediatr Neurol 9:427-431
-
(2005)
Eur J Paediatr Neurol
, vol.9
, pp. 427-431
-
-
Sarnat, H.B.1
-
49
-
-
0030581164
-
Influence of PAX6 gene dosage on development: Overexpression causes severe eye abnormalities
-
Schedl A, Ross A, Lee M, Engelkamp D, Rashbass P, van Heyningen V, Hastie ND (1996) Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. Cell 86:71-82
-
(1996)
Cell
, vol.86
, pp. 71-82
-
-
Schedl, A.1
Ross, A.2
Lee, M.3
Engelkamp, D.4
Rashbass, P.5
van Heyningen, V.6
Hastie, N.D.7
-
51
-
-
24944478689
-
Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH)
-
Schoumans J, Ruivenkamp C, Holmberg E, Kyllerman M, Anderlid BM, Nordenskjold M (2005) Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J Med Genet 42:699-705
-
(2005)
J Med Genet
, vol.42
, pp. 699-705
-
-
Schoumans, J.1
Ruivenkamp, C.2
Holmberg, E.3
Kyllerman, M.4
Anderlid, B.M.5
Nordenskjold, M.6
-
53
-
-
34548691008
-
The discovery of microdeletion syndromes in the post-genomic era: Review of the methodology and characterization of a new 1q41q42 microdeletion syndrome
-
Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T (2007) The discovery of microdeletion syndromes in the post-genomic era: Review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genet Med 9:607-616
-
(2007)
Genet Med
, vol.9
, pp. 607-616
-
-
Shaffer, L.G.1
Theisen, A.2
Bejjani, B.A.3
Ballif, B.C.4
Aylsworth, A.S.5
Lim, C.6
McDonald, M.7
Ellison, J.W.8
Kostiner, D.9
Saitta, S.10
Shaikh, T.11
-
54
-
-
11144356173
-
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
-
Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP (2004) Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 41:241-248
-
(2004)
J Med Genet
, vol.41
, pp. 241-248
-
-
Shaw-Smith, C.1
Redon, R.2
Rickman, L.3
Rio, M.4
Willatt, L.5
Fiegler, H.6
Firth, H.7
Sanlaville, D.8
Winter, R.9
Colleaux, L.10
Bobrow, M.11
Carter, N.P.12
-
55
-
-
1842526843
-
Implications of human genome architecture for rearrangement-based disorders: The genomic basis of disease
-
Shaw CJ, Lupski JR (2004) Implications of human genome architecture for rearrangement-based disorders: The genomic basis of disease. Hum Mol Genet 13(Spec no 1):R57-R64
-
(2004)
Hum Mol Genet
, vol.13
, Issue.1
-
-
Shaw, C.J.1
Lupski, J.R.2
-
56
-
-
0037168586
-
Generation and initial analysis of more than 15, 000 full-length human and mouse cDNA sequences
-
Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA (2002) Generation and initial analysis of more than 15, 000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci USA 99:16899-16903
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 16899-16903
-
-
Strausberg, R.L.1
Feingold, E.A.2
Grouse, L.H.3
Derge, J.G.4
Klausner, R.D.5
Collins, F.S.6
Wagner, L.7
Shenmen, C.M.8
Schuler, G.D.9
Altschul, S.F.10
Zeeberg, B.11
Buetow, K.H.12
Schaefer, C.F.13
Bhat, N.K.14
Hopkins, R.F.15
Jordan, H.16
Moore, T.17
Max, S.I.18
Wang, J.19
Hsieh, F.20
Diatchenko, L.21
Marusina, K.22
Farmer, A.A.23
Rubin, G.M.24
Hong, L.25
Stapleton, M.26
Soares, M.B.27
Bonaldo, M.F.28
Casavant, T.L.29
Scheetz, T.E.30
Brownstein, M.J.31
Usdin, T.B.32
Toshiyuki, S.33
Carninci, P.34
Prange, C.35
Raha, S.S.36
Loquellano, N.A.37
Peters, G.J.38
Abramson, R.D.39
Mullahy, S.J.40
Bosak, S.A.41
McEwan, P.J.42
McKernan, K.J.43
Malek, J.A.44
Gunaratne, P.H.45
Richards, S.46
Worley, K.C.47
Hale, S.48
Garcia, A.M.49
Gay, L.J.50
Hulyk, S.W.51
Villalon, D.K.52
Muzny, D.M.53
Sodergren, E.J.54
Lu, X.55
Gibbs, R.A.56
Fahey, J.57
Helton, E.58
Ketteman, M.59
Madan, A.60
Rodrigues, S.61
Sanchez, A.62
Whiting, M.63
Young, A.C.64
Shevchenko, Y.65
Bouffard, G.G.66
Blakesley, R.W.67
Touchman, J.W.68
Green, E.D.69
Dickson, M.C.70
Rodriguez, A.C.71
Grimwood, J.72
Schmutz, J.73
Myers, R.M.74
Butterfield, Y.S.75
Krzywinski, M.I.76
Skalska, U.77
Smailus, D.E.78
Schnerch, A.79
Schein, J.E.80
Jones, S.J.81
Marra, M.A.82
more..
-
57
-
-
0028853240
-
Neuronal pathfinding is abnormal in mice lacking the neuronal growth cone protein GAP-43
-
Strittmatter SM, Fankhauser C, Huang PL, Mashimo H, Fishman MC (1995) Neuronal pathfinding is abnormal in mice lacking the neuronal growth cone protein GAP-43. Cell 80:445-452
-
(1995)
Cell
, vol.80
, pp. 445-452
-
-
Strittmatter, S.M.1
Fankhauser, C.2
Huang, P.L.3
Mashimo, H.4
Fishman, M.C.5
-
58
-
-
0034962161
-
De novo interstitial long arm deletion of chromosome 3 with facial dysmorphism, Dandy-Walker variant malformation and hydrocephalus
-
Sudha T, Dawson AJ, Prasad AN, Konkin D, de Groot GW, Prasad C (2001) De novo interstitial long arm deletion of chromosome 3 with facial dysmorphism, Dandy-Walker variant malformation and hydrocephalus. Clin Dysmorphol 10:193-196
-
(2001)
Clin Dysmorphol
, vol.10
, pp. 193-196
-
-
Sudha, T.1
Dawson, A.J.2
Prasad, A.N.3
Konkin, D.4
de Groot, G.W.5
Prasad, C.6
-
59
-
-
0036387019
-
Molecular cloning of a novel immunoglobulin superfamily gene preferentially expressed by brain and testis
-
Suzu S, Hayashi Y, Harumi T, Nomaguchi K, Yamada M, Hayasawa H, Motoyoshi K (2002) Molecular cloning of a novel immunoglobulin superfamily gene preferentially expressed by brain and testis. Biochem Biophys Res Commun 296:1215-1221
-
(2002)
Biochem Biophys Res Commun
, vol.296
, pp. 1215-1221
-
-
Suzu, S.1
Hayashi, Y.2
Harumi, T.3
Nomaguchi, K.4
Yamada, M.5
Hayasawa, H.6
Motoyoshi, K.7
-
60
-
-
28444466985
-
Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH
-
Tyson C, Harvard C, Locker R, Friedman JM, Langlois S, Lewis ME, Van Allen M, Somerville M, Arbour L, Clarke L, McGilivray B, Yong SL, Siegel-Bartel J, Rajcan-Separovic E (2005) Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH. Am J Med Genet A 139:173-185
-
(2005)
Am J Med Genet A
, vol.139
, pp. 173-185
-
-
Tyson, C.1
Harvard, C.2
Locker, R.3
Friedman, J.M.4
Langlois, S.5
Lewis, M.E.6
Van Allen, M.7
Somerville, M.8
Arbour, L.9
Clarke, L.10
McGilivray, B.11
Yong, S.L.12
Siegel-Bartel, J.13
Rajcan-Separovic, E.14
-
61
-
-
0028014337
-
The molecular basis of genetic dominance
-
Wilkie AO (1994) The molecular basis of genetic dominance. J Med Genet 31:89-98
-
(1994)
J Med Genet
, vol.31
, pp. 89-98
-
-
Wilkie, A.O.1
-
62
-
-
4243249923
-
Interstitial deletion of chromosome 3q with Dandy-Walker syndrome
-
Willner J, Vosatka R, Hirschhorn K (1990) Interstitial deletion of chromosome 3q with Dandy-Walker syndrome. Am J Hum Genet 47:A44
-
(1990)
Am J Hum Genet
, vol.47
-
-
Willner, J.1
Vosatka, R.2
Hirschhorn, K.3
|