2009 Vienna - European Society of Human Genetics

Keyword Index
CLA: P06.073
CLCN1 gene: P16.50
clear cell renal cancer: P06.100
cleft lip and/or palate: P09.026
cleft lip with or without cleft palate: C17.6
Cleft lip with or without clefts palate:
P09.027
Cleft lip/palate: P02.020, P09.130
cleft palate: P02.091, P09.028, P09.029
cleidocranial dysplasia: P12.037
Clinical diagnosis: P03.101
clinical diagnostics: C15.4
clinical outcome: P05.44
clinical pathways: P14.16
clinical utility: P15.04
clinical: C14.5
CLL-B: P06.185, P06.200
clonal chromosomal abnormalities:
P06.189
cloning: P14.05
clustering: P11.105
CMI: P12.032
CML: P06.171, P06.176, P06.180,
P06.192
CMT: P11.001
CMT1X: P16.36
cmt2a: P16.37
CMTX1: P16.34
Cnsanguinity: P03.016
CNV: P02.004, P02.184, P03.017,
P03.075, P09.030, P11.006, P11.020,
P11.021, P11.022, P11.023
CNV’s: P11.121
Cobalamin B Deficiency: P13.33
Cobalamin: S11.1
Cockayne Syndrome: P02.023
Cockayne: P02.021, P02.022
CODAS syndrome: P02.024
codon 12: P12.073
coeliac disease: P09.032, P09.033
coeliac: P09.031
COFS: P02.021
COH1: P02.025
Cohen syndrome: P12.038
Cohen: P02.025
COL17A1 gene: P12.068
COL18A1: P02.058
COL1A1 gene: P09.034, P09.035
COL1A1: P12.126
COL1A2: P12.126
COL3A1 gene: P12.163
COL3A1: P12.039
COL4A1 gene: P12.131
COL4A5: P12.011, P12.012
COL7A1: P02.036
collagen IV alpha 5 chain: P12.012
collagen: P12.127
collateralization: P17.38
Colon cancer: P06.001, P06.140, P06.141,
P06.154
colonrectal cancer: P06.205
colorectal cancer predisposition: C06.2
colorectal cancer: P06.002, P06.093,
P06.096, P06.142, P06.143, P06.144,
P06.155, P06.161, P11.043, S06.3
colorectal: S12.3
common disease predisposition: P08.33
Common disease: S13.1
Common fragile sites: P07.01
Common variants near MC4R: P17.01
Common variants: S01.3
community views: C18.4
Community: P01.43
complement activation: P11.125
complement component C4: P09.119
complement system: P09.005
complete mitochondrial genome: C09.5
complex chromosomal rearrangment:
P03.121, P05.52
complex disease: C05.3, P09.029
Complex Regional Pain Syndrome:
P09.036
COMT: P09.096, P10.10
conditional KO: P11.078
Cone rod dystrophy: P02.026
conformational changes: P12.042
Congenital Abnormalities: P01.09
congenital adrenal hyperplasia: P04.02,
P05.10, P12.040, P12.041, P12.050
Congenital anomalies: P10.11
congenital CMV infection: P02.035
congenital cyphoscoliosis: P02.078
Congenital dislocation of the hip: P08.20
Congenital Disorders of Glycosylation:
C14.6
Congenital generalized hypertrichosis:
P03.091
congenital glaucoma: P12.042
congenital heart defects: C11.1, P02.056
Congenital heart disease: P02.057,
P02.081, P03.122, P12.043
congenital hyperinsulinism: P11.024
congenital hypothyroidism: P13.09
congenital ichthyosis: P02.027
congenital malformations: P02.037
congenital muscular dystrophy: P16.39
Congenital nephrotic syndrome: P12.044
congenital neutropenia: P12.045
Congenital scoliosis: P02.161
congenital variant: P02.185
congenital: P02.003, P16.06
connective tissue disease: P10.67
Connexin 26 (GJB2): P08.21
CONNEXIN 26: P12.046
consanguineous marriage: P03.156
consanguinity: P02.028, P02.057, P10.12,
P12.038, P12.123, P13.40, P16.11
Conserved extended haplotype: P10.54
Consortium: C16.6
Constitutional diseases: C16.6
constitutionnal: C02.6
conventional cytogenetics: P05.36
Cooks syndrome: PL2.4
COPD: P09.037, P10.02
Copy Number Analysis: P02.104
copy number changes: C07.2, P03.165
Copy number mutation: P03.091
copy number variant: P09.100
Copy number variants: C15.1, P03.011
Copy Number Variation: C02.1, C17.2,
P02.068, P03.023, P06.027, P09.021,
P09.037, P09.068, P11.025, P11.026,
P11.038, P12.026, S08.2
CORD: P02.026
Cordocentes: P05.23
core myopathy: P12.047
Cornelia de Lange syndrome: P12.048
Coronary Artery Disease: P10.13, P17.41
Coronary Heart Disease: C10.5, P17.47
coronary: P17.38
corpus callosum dysgenesis: P02.028
corpus callosum: P03.093, P03.161
Costello syndrome: P02.144
coumarin: P10.86
counseling: P03.130
Counselling: P01.25, S03.4
Cowden Syndrome: P06.028, P06.078
COX-2 polymorphism: P06.140, P10.14
COX-2: P06.029
CpG Island Methylator Phenotype regions:
P11.028
CpG island: P11.027
C-propeptide: P12.127
craniofacial: C04.3, P02.022
craniofrontonasal syndrome: C04.6
craniolacunia: P02.029
craniosynostosis: P02.134, P03.092
CRC: P06.158
Cre ERT2 recombinase: P11.078
Creatine: P02.201
CREB1: P11.029
cri du chat: P03.163
Crohn: P09.038
Crohn’s disease: P09.039, P10.15
cryptic deletion: P03.080
cryptic splice site: P02.122
CSB gene: P02.021
CSCE-screening: P06.117