2008 Barcelona - European Society of Human Genetics

Keyword Index
CK20: P04.137
classification: P01.001, P09.28
CLCN1: P01.212, P05.023, P06.302
CLCNKB: P05.012
CLD: P05.111
cleft lip and palate: C02.1, P03.36, P06.053,
P10.07
cleft lip and/or cleft palate: P06.054
Cleft lip palate: P06.185
cleft lip: P01.259
Cleft Palate: C02.6, P01.259
cleidocranial dysplasia: P01.125
Clinical criteria checklist: P02.017
clinical decision making: EP14.20
clinical diagnosis of CLS: P01.079
clinical diagnosis: P01.275
clinical diagnostics: C04.6
clinical features: P02.047
clinical follow up: P10.07
clinical genetics: P01.254, P01.260, P02.129
clinical heterogeneity: P01.364
Clinical phenotypes: P02.004
clinical service: EP04.1
clinical utility: P09.65
clinical: P01.331, P08.29
Clinics: EP05.2
CLL: P04.105, P08.38
CLN7: P06.207
clonal evolution: P04.089
clonal rearrangements: P04.169
cloning studies: S01.2
Cloning: P08.60
clopidogrel responsiveness: P06.055
clopidogrel: P06.076, P06.141
CLSPN: P04.056
CMG2: P01.306
CML patients: P04.102
CML: P04.084, P04.091, P04.092, P04.093
CMPD: P04.105
CMT: P01.226, P01.232, P01.234, P01.235,
P10.08
CMT1A: P01.237
CMT2: P01.227, P01.233
CNC: C05.1, P08.28
CNCs: P05.013
CNP: P01.107
CNR1 gene: P02.198
CNR1: P06.213
CNS: P05.168
CNTNAP2: P06.271
CNV: P01.320, S12.2
CNVs: S01.1
coagulation factor deficiency: P10.09
Coagulation: P06.009, P08.34
cocaine: P06.056
cochlear implants: P05.070
Cockayne syndrome: P01.261
coding polymorphisms: P06.091
Codon24: P01.018
coeliac disease: P05.024
coeliac: C08.5
coexistence: P01.367
coexpression: P05.057
Coffin-Lowry syndrome: P01.079
cognition: P06.025
cognitive outcome: P02.070
cohesin: S14.2
cohesinopathy: S14.2
COL1A1: P06.219
COL2A1: C11.2, P01.126, P01.128
COL4A1: P01.250
COL4A4: P01.249
collaboration: P09.03
collagen type VII: P05.038
Collagen VI: P06.057
colon cancer: P04.002, P04.021
colon polyps: P04.002
colorectal cancer: P04.005, P04.009,
P04.010, P04.011, P04.027, P04.046,
P04.137
Colorectal: C10.3, P04.008
Common Deletion: P04.142
common disease: P06.298
common diseases: P07.028, P07.117
common mutation: P07.116
communication: EP10.07, EP10.15
community genetics: P09.05
community genomics: P09.06
community: P09.64
comparative genomic hybridization: P04.199
Comparative sequence analysis: P10.01
competence: P09.07
competitive multiplex methylation-sensitive
PCR: P02.056
complement genes: P06.292
Complete androgen insensitivity syndrome:
P01.262
complex chromosomal aberrations: P04.106
complex chromosomal abnormality: P01.263
complex chromosomal rearrangement:
P04.071
Complex Chromosome Rearrangement
(CCR): P02.124
Complex disease: P06.151
complex karyotype: P04.108, P04.110
complex segregation analysis: P06.008
Complex traits: S06.2
complex Y: P02.225
computational genetics: P06.058
computational genome annotation: P02.036
confidentiality: EP14.02
Congenital adrenal hyperplasia: P05.025,
P06.184
congenital ataxia: P06.059
congenital cardiac malformations: P01.264
Congenital Cataract: P01.051, P01.250
congenital contractural arachnodactyly:
C11.3
Congenital deafness: P09.08
congenital heart defects: P01.265, P06.060,
P06.111, P08.15
Congenital Heart Disease: P02.066, P02.135
Congenital hip dislocation: P06.061
congenital hyperinsulinism of infancy:
P05.026, P05.027
congenital malformations: P01.337, P02.007,
P02.093, P02.133
Congenital Muscular Dsytrophy: P01.202,
P03.37
congenital nephrotic syndrome: C01.5,
P05.028
congenital skeletal abnormalities: P02.076
congenital: P01.292
Connective tissue dysplasia: P06.062
connexin: P05.054
connexin26: P05.055, P05.068
connexine 26: P07.053
consanguineous marriage: P02.162
consanguineous: P09.18
consanguinity: EP10.08, P07.023
consent: P09.51
Contralateral prophylactic mastectomy:
P04.039
cooley’s anaemia: P07.017
COPD: P06.014, P07.007
coping interventions: EP14.06
coping: EPL6.5
copper metabolism: P01.049, P05.139
Copy number change: C04.2
Copy number polymorphism: P07.029
copy number variant (CNV): PL2.5
Copy Number Variant: P02.125
Copy Number Variants: P02.032, P08.16
copy number Variation (CNV): P08.17
copy number variation: C13.3, P02.038,
P02.039, P06.063, P06.073, P06.292,
P07.030, P08.73
copy number: S01.3
cordocentesis: P03.38
core competence: P09.09
cornea: P01.310
corneal erosion: P06.064
Cornelia de Lange Syndrome: P01.266,
P07.093, S14.2
coronary artery disease: P06.065, P06.102
coronary heart disease: P06.112, P06.236
corpus callosum agenesy: P01.322
Corpus callosum hypogenesis: C01.1
corpus callosum: P01.267, P02.090
cortical malformation: P02.033
cortisol: P07.061
Costello: P01.189
Counselling: P09.10, P09.11
counsellor-counselee relationship: EP10.24
Cowden Syndrome: P04.012, P04.190
COX-2: P04.170
Cox5a: P05.172
CPEO: P06.150
CpG island: P04.061, P06.307
Cranio-lenticulo-sutural dysplasia: P01.268
Craniosynostosis syndromes: P01.154
craniosynostosis: P01.127, P01.139,
P01.156
CRC: P04.013
Creatine deficiency syndromes: P05.029
CREB signaling pathway: P06.066
CREBBP: P01.119, P01.269
cri du chat: P01.270
Crisponi syndrome: P01.271
CRLF1: P01.271
Croatian population: P07.043
Croatians: P07.114