2008 Barcelona - European Society of Human Genetics

Keyword Index
KCNJ11: P05.026
KCNQ1: P05.109
KCNQ2 mutations: C06.2
Kelley-Seegmiller syndrome: P05.093
keratin 3: P01.310
keratin 5, keratin 14: P05.038
KIAA0319: P06.272
KIAA1279 gene: P01.133
kidney development: P05.203
Kjellin syndrome: P05.184
Klinefelter syndrome: EP14.14, P03.18
KLK4: P05.110
Knee Osteoarthritis: P06.146
Kniest dysplasia: P01.151
Knockout model: C02.5
Knowledge and risk perception: EPL1.2
knowledge: P09.54
KOA: P06.146
KORA: C13.4
Korean: P06.178
KRIT1: P05.019
KRT14: P05.135
KRT5: P05.135
KRT86: P05.213
L162V: P07.104
L-2-hydroxyglutaric aciduria: P01.060
laboratories: P09.15
lacrimoauriculodentodigital: P01.311
lactase: P05.111
LADD syndrome: S13.3
LADD: P01.311
lagopththalmos: P01.255
LAMA2 gene: P03.37
LAMA2: P01.202
lamellar ichthyosis: P03.75
lamin: P05.136
laminophaties: P01.313
large deletions: P06.118
large families: P06.037
large family: P07.125
large genomic rearrangements: P04.051,
P05.151
large rearrangements: P04.045, P05.116
larynx cancer: P04.166
late cornified envelope: P06.244
late maternal age: P07.075
late-onset: EP08.6
laterality disorders: P06.060
Latinamerica: P07.085
law: P09.16
LBP: P06.147
LBWC: P01.312
LCAT: P06.148
LCHAD deficiency: P07.076
LD map: P06.010
LDL Receptor Gene: EP14.09
LDLR mutations: P05.112
LDLR: P05.042, P05.048, P07.049
Leber Congenital Amaurosis: P05.113
left ventricular hypertrophy: P06.300
legal system: P09.17
Leiden mutation: P05.197
Leigh syndrome: P05.114
Leningrad province: P09.45
Lentivector: P08.28
lentiviral vector: P10.28
Leopard Syndrome: P01.185, P01.188
leptin: P07.077
Leri-Weill dyschondrosteosis: P01.165
Léri-Weill dyschondrosteosis: P05.180
leri-Weill syndrome: P01.164
Lesch-Nyhan: P01.059
leucine-rich repeat kinase 2 gene: P06.149
leukaemia: P04.094, P04.095
leukemia: C10.4, C10.5, P04.076, P04.096
leukoencephalopathy: P05.136
leupaxin: P04.154
LGMD2B: P01.222
LGMD2I: P01.204
LHON: P06.150
Lieu de naissance: P07.024
life span: P07.028
Li-Fraumeni syndrome: P01.365, P04.155,
P04.156
limb and endochondral bone development:
C12.5
limb defects: C11.5
Limb malformation: C11.1
Limb-girdle muscular dystrophy: P01.205
linguistics: P07.129
Linkage analysis: P01.235, P01.252,
P06.040, P06.154, P07.125
Linkage analysis-QRT-MLPA: P01.219
linkage disequilibrium, allele distribution:
P07.044
linkage disequilibrium: P06.155, P06.243,
P07.078
linkage disequlibrium study: P06.092
linkage power: P06.156
linkage study: P06.042
linkage: P06.060, P06.108, P06.151,
P06.152, P06.153, P06.163, P06.199,
P06.220, P07.096
LIPG: P06.157
Lipid metabolism: C02.5
lipids: P06.153, P06.158
lipodystrophy: P05.016
lipoprotein a: P06.159
Lipoprotein lipase gene: P05.115
Lithuanian athletes: P07.002
liver disease: P05.001
liver: P05.086
LMNA/C: C06.6
LMNA: P01.313
LMX1B gene: P01.314
LMX1B: P01.330
local human population: P07.079
locus 2q32: P02.144
Loeys-Dietz syndrome: P10.18
LOH analysis: P04.157
LOH: P04.120
long bone fragility: P01.340
long distance gene regulation: P08.02
Long QT syndrome: P06.160
longevity: P07.028, P07.080, P07.081
longitudinal analysis: P08.16
losartan: P10.18
loss of function: P01.162
Low cholesterol: P02.134
Low level mosaicism: P02.159
low level mosaics: P02.173
LOXIN: P05.138
LPA: P06.159
LQTS: EP13.7, P05.108
LRP1: P06.161
LRP1B: P02.180
LRP5: P01.159
LRRK2 gene: P05.155
LRRK2: P05.156, P05.157
LTBP2: C02.3
lung cancer: P04.157, P04.198, PL3.2
lung carcinoma: P04.158
lung: P06.077
Lymphedema: P01.171
lymphoblastoid: P07.082
lymphoma: S14.3
Lynch syndrome: EPL3.4, P04.019, S05.1
LYNCH: EPL3.3
lypoatrophy: P01.349
lypodystrophy: P01.253
Lysinuric protein intolerance: P05.116
lysosomal membrane permeabilization:
P01.061
Lysosomal storage disorders: P01.061
lysosome: P01.057
Lysyl Oxidase-like 1 gene: P06.101
M470V: P07.083
M6P/IGF 2R: P04.158
Machado Joseph disease: EP08.3
Machado-joseph disease: EP08.4, P09.41
Macrocephaly: P01.060, P01.274
Macrocephaly-capillary malformation:
P01.315
Madeira Island: P07.050
magnetic particle: P08.44
Major depression: EPL2.2, P05.201
major depressive disorder: P06.162
major histocompatibility complex: P07.132
malaria: P06.163
MALDI-TOF: P01.039
Male infertility: P02.221, P02.231, P02.233,
P02.234, P02.235, P02.239, P02.241,
P02.242, P07.084
male pseudohermaphroditism: P02.099
Malformation syndrome: C06.1
Malformation: P01.003
malformations: S08.1
malformative nephrouropathies: P06.274
malignant hyperthermia: P05.117
malignant transformation: P04.173
malonyl-CoA: P06.003
man infertility: P06.316
management: P01.195
mandibuloacral dysplasia: P10.19
mannose binding lecine: P01.034
MAOA: P01.099
MAOB: P01.099, P06.263
MAPK: P01.175
Mapping: P01.361, P06.117
MAQ: P03.10