-
1
-
-
0031783968
-
Neonatal cytokines and coagulation factors in children with cerebral palsy
-
Nelson KB, Dambrosia JM, Grether JK, Phillips TM: Neonatal cytokines and coagulation factors in children with cerebral palsy. Ann Neurol 1998; 44: 665-675.
-
(1998)
Ann Neurol
, vol.44
, pp. 665-675
-
-
Nelson, K.B.1
Dambrosia, J.M.2
Grether, J.K.3
Phillips, T.M.4
-
2
-
-
0033576152
-
A template for defining a causal relation between acute intrapartum events and cerebral palsy: International consensus statement
-
MacLennan A: A template for defining a causal relation between acute intrapartum events and cerebral palsy: international consensus statement. BMJ 1999; 319: 1054-1059.
-
(1999)
BMJ
, vol.319
, pp. 1054-1059
-
-
MacLennan, A.1
-
3
-
-
34247869927
-
A report: The definition and classification of cerebral palsy April 2006
-
Rosenbaum P, Paneth N, Leviton A et al: A report: the definition and classification of cerebral palsy April 2006. Dev Med Child Neurol Suppl 2007; 109: 8-14.
-
(2007)
Dev Med Child Neurol Suppl
, vol.109
, pp. 8-14
-
-
Rosenbaum, P.1
Paneth, N.2
Leviton, A.3
-
4
-
-
33745611808
-
Cerebral palsy and the application of the international criteria for acute intrapartum hypoxia
-
Strijbis EM, Oudman I, van Essen P, MacLennan AH: Cerebral palsy and the application of the international criteria for acute intrapartum hypoxia. Obstet Gynecol 2006; 107: 1357-1365.
-
(2006)
Obstet Gynecol
, vol.107
, pp. 1357-1365
-
-
Strijbis, E.M.1
Oudman, I.2
Van Essen, P.3
MacLennan, A.H.4
-
6
-
-
84857058937
-
Genomic insights into the causes and classification of the cerebral palsies
-
Moreno-De-Luca A, Ledbetter DH, Martin CL: Genomic insights into the causes and classification of the cerebral palsies. Lancet Neurol 2012; 11: 283-292.
-
(2012)
Lancet Neurol
, vol.11
, pp. 283-292
-
-
Moreno-De-Luca, A.1
Ledbetter, D.H.2
Martin, C.L.3
-
7
-
-
0025153698
-
Cerebral palsy in multiple births in Western Australia: Genetic aspects
-
Petterson B, Stanley F, Henderson D: Cerebral palsy in multiple births in Western Australia: genetic aspects. Am J Med Genet 1990; 37: 346-351.
-
(1990)
Am J Med Genet
, vol.37
, pp. 346-351
-
-
Petterson, B.1
Stanley, F.2
Henderson, D.3
-
8
-
-
0022576653
-
Birth and the origins of cerebral palsy
-
Paneth N: Birth and the origins of cerebral palsy. N Engl J Med 1986; 315: 124-126.
-
(1986)
N Engl J Med
, vol.315
, pp. 124-126
-
-
Paneth, N.1
-
9
-
-
0022511890
-
Familial cerebral palsy associated with normal intelligence
-
Wild NJ, Rosenbloom L: Familial cerebral palsy associated with normal intelligence. Postgrad Med J 1986; 62: 827-830.
-
(1986)
Postgrad Med J
, vol.62
, pp. 827-830
-
-
Wild, N.J.1
Rosenbloom, L.2
-
10
-
-
67651121993
-
The genomic basis of cerebral palsy: A HuGE systematic literature review
-
O'Callaghan ME, MacLennan AH, Haan EA, Dekker G: The genomic basis of cerebral palsy: a HuGE systematic literature review. Hum Genet 2009; 126: 149-172.
-
(2009)
Hum Genet
, vol.126
, pp. 149-172
-
-
O'Callaghan, M.E.1
MacLennan, A.H.2
Haan, E.A.3
Dekker, G.4
-
11
-
-
0033072088
-
A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25
-
McHale DP, Mitchell S, Bundey S et al: A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25. Am J Hum Genet 1999; 64: 526-532.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 526-532
-
-
McHale, D.P.1
Mitchell, S.2
Bundey, S.3
-
12
-
-
12944281505
-
Homozygosity for a missense mutation in the 67kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: Parallels with Stiff-Person Syndrome and other movement disorders
-
Lynex CN, Carr IM, Leek JP et al: Homozygosity for a missense mutation in the 67kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders. BMC Neurol 2004; 4: 20.
-
(2004)
BMC Neurol
, vol.4
, pp. 20
-
-
Lynex, C.N.1
Carr, I.M.2
Leek, J.P.3
-
13
-
-
0034035450
-
A gene for ataxic cerebral palsy maps to chromosome 9p12-q12
-
McHale DP, Jackson AP, Campbell et al: A gene for ataxic cerebral palsy maps to chromosome 9p12-q12. Eur J Hum Genet 2000; 8: 267-272.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 267-272
-
-
McHale, D.P.1
Jackson, A.P.2
Campbell3
-
14
-
-
67649587137
-
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy
-
Verkerk AJ, Schot R, Dumee B et al: Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. Am J Hum Genet 2009; 85: 40-52.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 40-52
-
-
Verkerk, A.J.1
Schot, R.2
Dumee, B.3
-
15
-
-
79958820932
-
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature
-
Abou Jamra R, Philippe O, Raas-Rothschild A et al: Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet 2011; 88: 788-795.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 788-795
-
-
Abou, J.R.1
Philippe, O.2
Raas-Rothschild, A.3
-
16
-
-
79551651120
-
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability
-
Moreno-De-Luca A, Helmers SL, Mao H et al: Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. J Med Genet 2011; 48: 141-144.
-
(2011)
J Med Genet
, vol.48
, pp. 141-144
-
-
Moreno-De-Luca, A.1
Helmers, S.L.2
Mao, H.3
-
17
-
-
84861318140
-
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)
-
Bauer P, Leshinsky-Silver E, Blumkin L et al: Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47). Neurogenetics 2012; 13: 73-76.
-
(2012)
Neurogenetics
, vol.13
, pp. 73-76
-
-
Bauer, P.1
Leshinsky-Silver, E.2
Blumkin, L.3
-
19
-
-
77954657070
-
Functional impact of global rare copy number variation in autism spectrum disorders
-
Pinto D, Pagnamenta AT, Klei L et al: Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010; 466: 368-372.
-
(2010)
Nature
, vol.466
, pp. 368-372
-
-
Pinto, D.1
Pagnamenta, A.T.2
Klei, L.3
-
20
-
-
77649122250
-
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
-
Girirajan S, Rosenfeld JA, Cooper GM et al: A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 2010; 42: 203-209.
-
(2010)
Nat Genet
, vol.42
, pp. 203-209
-
-
Girirajan, S.1
Rosenfeld, J.A.2
Cooper, G.M.3
-
21
-
-
80052260252
-
A copy number variation morbidity map of develomental delay
-
Cooper G, Coe B, Girirajan S et al: A copy number variation morbidity map of develomental delay. Nat Genet 2011; 43: 838-846.
-
(2011)
Nat Genet
, vol.43
, pp. 838-846
-
-
Cooper, G.1
Coe, B.2
Girirajan, S.3
-
22
-
-
74249088463
-
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
-
de Kovel CG, Trucks H, Helbig I et al: Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 2010; 133: 23-32.
-
(2010)
Brain
, vol.133
, pp. 23-32
-
-
De Kovel, C.G.1
Trucks, H.2
Helbig, I.3
-
23
-
-
79957589237
-
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
-
O'Roak BJ, Deriziotis P, Lee C et al: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 2011; 43: 585-589.
-
(2011)
Nat Genet
, vol.43
, pp. 585-589
-
-
O'Roak, B.J.1
Deriziotis, P.2
Lee, C.3
-
24
-
-
84865812309
-
Customised assessment of fetal growth potential: Implications for perinatal care
-
Gardosi J: Customised assessment of fetal growth potential: implications for perinatal care. Arch Dis Child Fetal Neonatal Ed 2012; 97: F314-F317.
-
(2012)
Arch Dis Child Fetal Neonatal Ed
, vol.97
-
-
Gardosi, J.1
-
25
-
-
81755183108
-
Relative burden of large CNVs on a range of neurodevelopmental phenotypes
-
Girirajan S, Brkanac Z, Coe BP et al: Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet 2011; 7: e1002334.
-
(2011)
PLoS Genet
, vol.7
-
-
Girirajan, S.1
Brkanac, Z.2
Coe, B.P.3
-
26
-
-
25844494223
-
Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH
-
Selzer RR, Richmond TA, Pofahl NJ et al: Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH. Genes Chromosomes Cancer 2005; 44: 305-319.
-
(2005)
Genes Chromosomes Cancer
, vol.44
, pp. 305-319
-
-
Selzer, R.R.1
Richmond, T.A.2
Pofahl, N.J.3
-
27
-
-
0030988386
-
Development and reliability of a system to classify gross motor function in children with cerebral palsy
-
Palisano R, Rosenbaum P, Walter S, Russell D, Wood E, Galuppi B: Development and reliability of a system to classify gross motor function in children with cerebral palsy. Dev Med Child Neurol 1997; 39: 214-223.
-
(1997)
Dev Med Child Neurol
, vol.39
, pp. 214-223
-
-
Palisano, R.1
Rosenbaum, P.2
Walter, S.3
Russell, D.4
Wood, E.5
Galuppi, B.6
-
28
-
-
47149112546
-
Peroxisomal acyl-CoA-oxidase deficiency: Two new cases
-
Carrozzo R, Bellini C, Lucioli S et al: Peroxisomal acyl-CoA-oxidase deficiency: two new cases. Am J Med Genet A 2008; 146A: 1676-1681.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 1676-1681
-
-
Carrozzo, R.1
Bellini, C.2
Lucioli, S.3
-
29
-
-
0031829508
-
Antigen-independent suppression of the IgE immune response to bee venom phospholipase A2 by maternally derived monoclonal IgG antibodies
-
Seeger M, Thierse HJ, Lange H, Shaw L, Hansen H, Lemke H: Antigen-independent suppression of the IgE immune response to bee venom phospholipase A2 by maternally derived monoclonal IgG antibodies. Eur J Immunol 1998; 28: 2124-2130.
-
(1998)
Eur J Immunol
, vol.28
, pp. 2124-2130
-
-
Seeger, M.1
Thierse, H.J.2
Lange, H.3
Shaw, L.4
Hansen, H.5
Lemke, H.6
-
30
-
-
0033119211
-
Comparison of human COP9 signalsome and 26S proteasome lid'
-
Henke W, Ferrell K, Bech-Otschir D et al: Comparison of human COP9 signalsome and 26S proteasome lid'. Mol Biol Rep 1999; 26: 29-34.
-
(1999)
Mol Biol Rep
, vol.26
, pp. 29-34
-
-
Henke, W.1
Ferrell, K.2
Bech-Otschir, D.3
-
31
-
-
33748130455
-
Genotype-phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum
-
Girirajan S, Vlangos CN, Szomju BB et al: Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genet Med 2006; 8: 417-427.
-
(2006)
Genet Med
, vol.8
, pp. 417-427
-
-
Girirajan, S.1
Vlangos, C.N.2
Szomju, B.B.3
-
32
-
-
0033987366
-
Molecular mechanism for duplication 17p11.2 the homologous recombination reciprocal of the Smith-Magenis microdeletion
-
Potocki L, Chen KS, Park SS et al: Molecular mechanism for duplication 17p11.2-the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 2000; 24: 84-87.
-
(2000)
Nat Genet
, vol.24
, pp. 84-87
-
-
Potocki, L.1
Chen, K.S.2
Park, S.S.3
-
33
-
-
48249149836
-
Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome
-
Molina J, Carmona-Mora P, Chrast J et al: Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome. Hum Mol Genet 2008; 17: 2486-2495.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 2486-2495
-
-
Molina, J.1
Carmona-Mora, P.2
Chrast, J.3
-
34
-
-
0142027581
-
Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons
-
Chai JH, Locke DP, Greally JM et al: Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. Am J Hum Genet 2003; 73: 898-925.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 898-925
-
-
Chai, J.H.1
Locke, D.P.2
Greally, J.M.3
-
35
-
-
69749104320
-
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease
-
Mefford HC, Cooper GM, Zerr T et al: A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Res 2009; 19: 1579-1585.
-
(2009)
Genome Res
, vol.19
, pp. 1579-1585
-
-
Mefford, H.C.1
Cooper, G.M.2
Zerr, T.3
-
36
-
-
0034009881
-
Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome
-
Medina M, Marinescu RC, Overhauser J, Kosik KS: Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome. Genomics 2000; 63: 157-164.
-
(2000)
Genomics
, vol.63
, pp. 157-164
-
-
Medina, M.1
Marinescu, R.C.2
Overhauser, J.3
Kosik, K.S.4
-
37
-
-
53049109352
-
Recurrent CNVs disrupt three candidate genes in schizophrenia patients
-
Vrijenhoek T, Buizer-Voskamp JE, van der Stelt I et al: Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am J Hum Genet 2008; 83: 504-510.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 504-510
-
-
Vrijenhoek, T.1
Buizer-Voskamp, J.E.2
Van Der Stelt, I.3
-
38
-
-
84859009895
-
Rare structural variation of synapse and neurotransmission genes in autism
-
Gai X, Xie HM, Perin JC et al: Rare structural variation of synapse and neurotransmission genes in autism. Mol Psychiatry 2012; 17: 402-411.
-
(2012)
Mol Psychiatry
, vol.17
, pp. 402-411
-
-
Gai, X.1
Xie, H.M.2
Perin, J.C.3
-
39
-
-
15844364963
-
A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH
-
Harvard C, Malenfant P, Koochek M et al: A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH. Clin Genet 2005; 67: 341-351.
-
(2005)
Clin Genet
, vol.67
, pp. 341-351
-
-
Harvard, C.1
Malenfant, P.2
Koochek, M.3
-
40
-
-
34547664096
-
Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes
-
Lupski JR, Stankiewicz P: Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 2005; 1: e49.
-
(2005)
PLoS Genet
, vol.1
-
-
Lupski, J.R.1
Stankiewicz, P.2
-
41
-
-
2942744749
-
Reconstructing the evolutionary history of microcephalin, a gene controlling human brain size
-
Evans PD, Anderson JR, Vallender EJ, Choi SS, Lahn BT: Reconstructing the evolutionary history of microcephalin, a gene controlling human brain size. Hum Mol Genet 2004; 13: 1139-1145.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 1139-1145
-
-
Evans, P.D.1
Anderson, J.R.2
Vallender, E.J.3
Choi, S.S.4
Lahn, B.T.5
-
42
-
-
3242657086
-
Mutations in microcephalin cause aberrant regulation of chromosome condensation
-
Trimborn M, Bell SM, Felix C et al: Mutations in microcephalin cause aberrant regulation of chromosome condensation. Am J Hum Genet 2004; 75: 261-266.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 261-266
-
-
Trimborn, M.1
Bell, S.M.2
Felix, C.3
-
43
-
-
32444450454
-
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly
-
Garshasbi M, Motazacker MM, Kahrizi K et al: SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Hum Genet 2006; 118: 708-715.
-
(2006)
Hum Genet
, vol.118
, pp. 708-715
-
-
Garshasbi, M.1
Motazacker, M.M.2
Kahrizi, K.3
-
44
-
-
70350153591
-
Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders
-
Ozgen HM, van Daalen E, Bolton PF et al: Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders. Clin Genet 2009; 76: 348-356.
-
(2009)
Clin Genet
, vol.76
, pp. 348-356
-
-
Ozgen, H.M.1
Van Daalen, E.2
Bolton, P.F.3
-
45
-
-
79959403048
-
Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations
-
Aza-Carmona M, Barreda-Bonis AC, Guerrero-Fernandez J, Gonzalez-Casado I, Gracia R, Heath KE: Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations. J Pediatr Endocrinol Metab 2011; 24: 395-397.
-
(2011)
J Pediatr Endocrinol Metab
, vol.24
, pp. 395-397
-
-
Aza-Carmona, M.1
Barreda-Bonis, A.C.2
Guerrero-Fernandez, J.3
Gonzalez-Casado, I.4
Gracia, R.5
Heath, K.E.6
-
46
-
-
77649134592
-
Understanding variable expressivity in microdeletion syndromes
-
Veltman JA, Brunner HG: Understanding variable expressivity in microdeletion syndromes. Nat Genet 2010; 42: 192-193.
-
(2010)
Nat Genet
, vol.42
, pp. 192-193
-
-
Veltman, J.A.1
Brunner, H.G.2
-
47
-
-
77249114260
-
Variability in gene expression underlies incomplete penetrance
-
Raj A, Rifkin SA, Andersen E, van Oudenaarden A: Variability in gene expression underlies incomplete penetrance. Nature 2010; 463: 913-918.
-
(2010)
Nature
, vol.463
, pp. 913-918
-
-
Raj, A.1
Rifkin, S.A.2
Andersen, E.3
Van Oudenaarden, A.4
|