European Human Genetics Conference 2007 June 16 – 19, 2007 ...
European Human Genetics Conference 2007 June 16 – 19, 2007 ...
European Human Genetics Conference 2007 June 16 – 19, 2007 ...
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Keyword Index<br />
IRF5: P1086<br />
IRF6: P0774<br />
Irish Traveller: P0<strong>19</strong>4, P1181<br />
Iron metabolism: P1025<br />
IRS-1: P0957<br />
ischaemic stroke: P0906<br />
ischemia: P0870<br />
isolate break-up: C47<br />
Israeli Arab: P0174<br />
Ivemark syndrome: P0025<br />
IVF: C76, P1182<br />
IVF failure: P0351<br />
IVS1-110 mutation: P0668<br />
IVSI-7 A→T T: P0667<br />
Jacobsen syndrome: P0147, P0352<br />
Jak2: P0583<br />
JARID1C: P0888<br />
Johanson-Blizzard Syndrome: P0148<br />
Joubert syndrome: C02, P0149, P0<strong>16</strong>4<br />
Joubert type B syndrome: C01<br />
JPS: P0150<br />
July: P0151<br />
jumping translocation: P0353<br />
juvenile: P0236<br />
juvenile haemochromatosis: P0775<br />
Juvenile idiopathic arthritis: P0887<br />
juvenile parkinson disease: P0776<br />
Juvenile Rheumatoid Arthritis: P1006<br />
K+ channel: P1183<br />
Kabuki syndrome: P0152<br />
kaposiform hemangioendothelioma: P0266<br />
Kartagener syndrome: P0844<br />
karyological analysis: P0408<br />
karyotipe abnormalities: P0031<br />
karyotype: P0002, P0289, P0308, P0313, P0338,<br />
P0354, P0365, P0392, P0398, P0409, P0415, P0423<br />
karyotypic aberrations: P0521<br />
karyotyping: P0345, P0355<br />
KCNE1: P1183<br />
KCNH2: P1099<br />
KCNQ1 and KCNH2 genes: P0782<br />
Keutel syndrome: P0153<br />
kidney disease: P0188<br />
Klinefelter sy: P0356<br />
Klinefelter Syndrome: P0568<br />
Klippel-Feil: P0271<br />
KLOTHO: P1007<br />
Knowledge transfer: C81<br />
Kostman disease: P0062<br />
Kostmann: P1030<br />
KRAS: P0204<br />
LADI, LADII, XLA, WASP, HIGM: P0772<br />
LAM PCR: C55<br />
lamellar ichthyosis: P0777<br />
laminin gamma 3 chain gene: P0569<br />
laminopathies: P0158<br />
Langer mesomelic dysplasia: P0407<br />
language: P1391<br />
large deletions: P0853<br />
Large genomic rearrangements: P0507<br />
Larsen syndrome: P0110, P0154<br />
laryngeal squamous cell carcinoma: P0520<br />
latent class analysis: C45<br />
Late-onset primary dystonia: P1008<br />
Lateral determination: C64<br />
Latvian population: P1<strong>16</strong>3, P1<strong>19</strong>0<br />
Law: P1361<br />
LCPUFA (DHA and ARA): P1269<br />
LCR22: P0297<br />
LDB3: P0032<br />
learning outcomes: C83<br />
Leber congenital amaurosis: P0778<br />
Lef-1: P07<strong>19</strong><br />
Left ventricular hypertrophy: P1009<br />
Left ventricular non-compaction: P0779<br />
Legionnaires’ disease: P1184<br />
Leigh syndrome: P0155, P0156<br />
Leningrad province: P1362<br />
leptin: P1010<br />
leptin receptor: P1010<br />
Leri-Weill dyschondrosteosis: P0407<br />
Leri-Weill syndrome: C34<br />
leukaemia: C54<br />
Leukaemic: P0357<br />
Leukemia: P0501, P0570, P0571, P0572, P0579,<br />
P0977<br />
leukodystrophy: P0100, P0675<br />
leukotriene: P0910<br />
LGMD: P0713, P0877, P0961<br />
LGMD2A: P0676, P0677, P1011<br />
LGMD2H: P1111<br />
LHON: P0807<br />
Li-Fraumeni syndrome: P0573, P0574<br />
limb reduction defects: P0157<br />
LINE-1: C68<br />
linkage: C12, P0767, P0924, P0935, P0975, P0988,<br />
P1000, P1123, P1227<br />
Linkage analysis: C39, P0131, P0132, P0264, P0923,<br />
P1031, P1087<br />
linkage disequilibrium: C44, C48, P0943, P1072<br />
Linkage mapping: P1025<br />
linkage power: P1185<br />
Linkage screening: P0941<br />
linkworkers (interpreters): P1339<br />
LIPC: P0102<br />
Lipid profile: P0833, P1329<br />
lipid trafficking: P0725<br />
lipoatrophy: P0306<br />
Lipoedema: P1012<br />
lipopolysaccharide: P0860<br />
LIS1: P0367<br />
Lissencephaly: P0880<br />
LITAF: P0927<br />
Liver disease: C60<br />
LKB1/STRAD/MO25 complex: P06<strong>19</strong><br />
LMNA: P0158, P0766, P0780, P0781<br />
LMX1B: P0<strong>19</strong>9<br />
LNA: P0432<br />
load: P1172<br />
lobular: P0512<br />
LO-CHS: P02<strong>19</strong><br />
Locus Specific Database: P1270<br />
LOD: P0992<br />
Lod score: P1076<br />
Long QT: P1394<br />
long QT syndrome: P0652, P0782<br />
longevity: P1007, P1<strong>19</strong>0<br />
Long-QT Syndrome: P1099<br />
loose anagen hair: P0030<br />
loss of heterozygosity: P0569, P0617<br />
loss of methylation: P0340<br />
low doses of ionizing radiation: P1149<br />
Lowe syndrome: P0159<br />
LQTS: P1013<br />
LRP5: P0742<br />
LRRK2 gene: P1062<br />
LRRK2 mutations: P0834<br />
LSD: PL04<br />
Lujan: P1053<br />
lymph nodes: P0881<br />
Lymphocyte culture: P0295<br />
Lymphoedema: P0783<br />
lymphoma: P0358<br />
Lynch Syndrome (HNPCC): P0604<br />
lysosomal storage disease: PL04<br />
M680I: P0734<br />
macrocephaly: P0<strong>16</strong>9<br />
macrocephaly/autism: P0<strong>16</strong>0<br />
Macroglobulinemia: P0359<br />
MACS: P0708<br />
MADA: P0781<br />
MADH4: P0150<br />
major depression: P1014<br />
malaria: P1015, P1<strong>16</strong>1<br />
male: P0985<br />
male fertility: P0311<br />
male infertility: P0337, P0360, P0361, P0408, P0663,<br />
P0702, P0784, P0785, P0786, P0787, P0879, P0913,<br />
P10<strong>16</strong><br />
males: P0<strong>16</strong>7<br />
malformation: P0364<br />
malformation rate: C25<br />
malignant formation: P1149<br />
malignant hyperthermia: P0855<br />
Malpuech Syndrome: P0<strong>16</strong>1, P0212<br />
MALT-Gene: P0359<br />
Mannose therapy: C60<br />
MAO-A: P0900<br />
MaoA: P1017<br />
MAP: C51<br />
mapping: P1271<br />
MAPT: P0001<br />
Marfan: P0788<br />
Marfan syndrome: P0<strong>16</strong>2<br />
Marinesco-Sjogren Syndrome: P0789<br />
marker: P0488<br />
marker chromosome: P0096, P0386<br />
markers chromosomes 15: P0362<br />
Markov chain Monte Carlo techniques: P1085<br />
maternal circulation: C27<br />
maternal disomy 15: P0222<br />
maternal urine and plasma: P0438<br />
Matrix attachment regions: P0518<br />
matrix Gla protein: P1049<br />
Matthew-Wood: P0<strong>16</strong>3<br />
matUPD15: P0428a<br />
MBD4: P0575<br />
MC4R: P0207<br />
MCA/MR: P0292<br />
MCB: P0346<br />
MCPH: P0180, P1018<br />
MDDS: P1033<br />
MDM2: P0611<br />
MDR1: P10<strong>19</strong><br />
MDR1 gene: P0026<br />
MDR3: P0790<br />
measured genotype: C46<br />
Meckel syndrome: C01<br />
Meckel-Gruber syndrome: C02, P0<strong>16</strong>4, P0799<br />
MecP2: P0<strong>16</strong>5, P0<strong>16</strong>6, P0890, P1385<br />
MECP2 gene: P0<strong>16</strong>7, P0233, P0843, P0852, P0853<br />
MED12: P0108, P0<strong>16</strong>8, P1053<br />
medical education: C83<br />
medical genetics: P1326<br />
medical laboratory accreditation: P1363<br />
medical ontoloogies: P0201<br />
medical service: P1362<br />
Medical simulation: P1333<br />
Mediterranean: P0743<br />
MEFV: P0732, P0733<br />
MEFV gene: P0734<br />
MEFV gene mutations: P0111<br />
Megalencephaly: P0<strong>16</strong>9<br />
Megaloblastic anemia: P0259<br />
Meiosis: C73, P0368, P0671<br />
Meiotic segregation: P0324<br />
Melanoma: P1186<br />
melanoma/pancreatic cancer: P0513
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