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 />
NBS1 gene: P0567<br />
NBS-heterozygotes: P0586<br />
NCL: C07<br />
ncRNA: P1282<br />
NDP: P0742<br />
Nemaline Myopathy: P0200<br />
neonatal hypoglycemia: P0034<br />
Neonatal Progeria: P0270<br />
neonates: P0745<br />
neoplasia: P0553<br />
Neo-telomere formation: P0412<br />
Nephrogenic diabetes insipidus, type II: P1048<br />
nephrolithiasis: P1049<br />
nephronophthisis: P0817<br />
Network: P1334<br />
Networks: P1325<br />
neural tube defect: P0430<br />
neural tube defects: P0375, P0794<br />
Neuregulin: P1050<br />
Neuroblastoma: P0587, P0601<br />
neurodegeneration: P0858<br />
Neurodegenerative disease: P0868<br />
neurodevelopment: P0057<br />
Neurofibromatosis: P08<strong>19</strong>, P1365<br />
Neurofibromatosis type 1: P0201, P0588, P0589,<br />
P1051<br />
Neurofibromatosis type 2: P0202<br />
neurogenetics: PL03<br />
neuroimaging: PL03<br />
neuroimmunology: P0815<br />
neurologic complications: P0046<br />
neurological development: P0183<br />
neuronal apoptosis inhibitory protein gene: P1393<br />
Neuronal ceroid lipofuscinosis: C07<br />
neuropathy: P0975<br />
neurotoxicity: P0599<br />
new SNP detection: P1093<br />
newborn screening: P0080, P0<strong>19</strong>4, P0444, P1322,<br />
P1359, P1366<br />
Newborn with Malformations: P04<strong>19</strong><br />
Newborns: P0878<br />
next generation: P1283<br />
NF1: P0818, P08<strong>19</strong><br />
NF1 Microdeletion Syndrome: P0589<br />
NF1 Modifying Genes: P0589<br />
NFAT: P1042<br />
NF-kB: P0718, P07<strong>19</strong><br />
N-Glycosylation: C38<br />
NGO collaboration: P1381<br />
NHL: P0623<br />
Nijmegen breakage syndrome: P0203<br />
NIPBL: P0066, P0068<br />
NIPD: P0432<br />
NMSC: P0946<br />
no organomegaly: P0034<br />
NOD2: P1052<br />
NOD2/CARD15: P0949<br />
non invasive prenatal diagnosis: P0460<br />
Non-B DNA structure: P0376<br />
non-invasive: C27<br />
noninvasive: P0446<br />
non-invasive diagnosis: P0434<br />
non-invasive prenatal diagnosis: P0461<br />
noninvasive prenatal diagnosis: PL08<br />
Non-methylated Genomic Sites Coincidence Cloning:<br />
P0542<br />
nonsence-mediated RNA decay: P0820<br />
nonsense-mediated mRNA decay: C58<br />
non-small cell lung cancer: P1272<br />
Non-syndromic hearing loss: P0981<br />
nonsyndromic orofacial clefing: P0774<br />
non-viral vectors: P1407<br />
Noonan syndrome: C36, P0137, P0204, P0205,<br />
P0821<br />
North Africa: P1001<br />
Northern Blot: P0666<br />
NOS3: P0998, P1074<br />
NOTCH3: P0041, P1139<br />
Novel mutation: P0140, P0651, P0724<br />
NPAS3 gene: P0381<br />
NPHP1: P0817<br />
NPHP6/CEP290: P0778<br />
NPHS2: P0206<br />
NRG1: P1091<br />
NSD1: P0867<br />
NT: P0462<br />
NTD: P0459<br />
nucleotide excision repair: P0822<br />
Nurr1 transcription factor: P0638<br />
OAVS: P1<strong>19</strong>9<br />
obesity: P0207, P0996<br />
OCRL1: P0159<br />
OCTN2 mutation: P0823<br />
oculo-aruiculo-vertebral spectrum: P1<strong>19</strong>9<br />
Oculocutaneous albinism: P0824<br />
Oculo-dento-digital: P0825<br />
Oculofaciocardiodental syndrome: C64<br />
OFCD syndrome: P0208<br />
Ohdo: P0209<br />
Olfactory Receptors Gene Clusters: P0424<br />
oligodendrocyte/myelin-related genes: P1092<br />
oligonucleotide biochip: P1047<br />
oligonucleotide microarray: P1272<br />
Oligosaccharyltransferase: C38<br />
O-linked glycosylation: P0045<br />
OMIM #264475: P0008<br />
On line EQA: C78<br />
Oncocytic tumor: P0622<br />
Oncocytoma: P0590<br />
oncogenes: P0591<br />
OPA1: P0826<br />
OPHN1: P0049<br />
ophthalmic status: P0210<br />
Opitz-Kaveggia: P1053<br />
optic atrophies: P0827<br />
optic atrophy: P0826<br />
oral squamous cell carcinomas: P0591<br />
Ordered arrangement of chromosomes: P0377<br />
orofacial clefts: P0211<br />
orphan drugs: P1395<br />
OSA: P0212<br />
osteocalcin: P11<strong>19</strong><br />
osteoclast failure: P0213<br />
osteodysplasia: P1054<br />
Osteogenesis Imperfecta: C63, P1054, P1367<br />
osteonecrosis: P1055<br />
osteopenia: P11<strong>19</strong><br />
Osteopetrosis: P0213<br />
osteopontin: P0828, P11<strong>16</strong><br />
osteoporosis: P0214, P0829, P1056, P1057, P1058,<br />
P1200, P1274<br />
otopalatodigital spectrum disorders: P0215<br />
otopalatodigital syndrome: P0215<br />
Otosclerosis: C<strong>16</strong><br />
OTX2: P0830<br />
outbreeding: C47<br />
ovarian cancer: P0514, P0592, P0593<br />
ovarian dysfunction: P0831<br />
oxidative stress: P0849, P1410<br />
p 11q 13: P0378<br />
p.A204T mutation: P0698<br />
p.F508del: P0077<br />
P2X receptor gene: P0995<br />
P369S mutation: P0735<br />
P4502E1: P1224<br />
p53: P0591, P0594<br />
p53 gene: P0534, P0595, P0596<br />
p63: P0723, P0832<br />
p66shc: P0597<br />
p73: P0598<br />
pacemaking in heart: P0805<br />
Paclitaxel: P0599<br />
PAH: P0837<br />
PAH gene: P0838, P1059<br />
PAH gene mutations: P0838<br />
pain: C04<br />
Palindrome: P0376<br />
Pallister-Killian syndrome: P0379, P0463<br />
panniculitis: P0306<br />
PAP: PL08<br />
PAPP-A: P0447<br />
PAPP-A/proMBP complex: P0464<br />
paraffin-embedded samples: P0613<br />
paraganglioma: P0600, P1060<br />
parametric linkage: P1201<br />
Paraoxonase PON1: P0833<br />
parenting stress: P1368<br />
parent-of-origin effect: C46<br />
park2: P02<strong>16</strong>, P0776<br />
PARK2 gene: P0835<br />
Parkin: P02<strong>16</strong>, P1061<br />
Parkinson’s disease: P02<strong>16</strong><br />
Parkinson’s disease: P0834, P0835, P0872, P0983,<br />
P1062, P1063<br />
Parotid gland: P0153<br />
partial duplication: P0307<br />
partial trisomy: P0354<br />
Partially isolated communities: P1129<br />
Partington syndrome: P0279<br />
Patents: P1369<br />
Patient Empowerment: P1349<br />
patient views: P1370<br />
patients records: P0201<br />
pattern: P1257<br />
PAX6 gene: P0018<br />
PAX9 gene: P0185<br />
PBGD: P0786<br />
PCR: P0245, P0465<br />
PCR diagnosis: P0339<br />
PCR-based assay: P1253<br />
PCSK9: P0768<br />
PDE4D: P1106<br />
Pectoralis muscle aplasia: P0221<br />
pediatric ALL: P0274<br />
pediatric metabolic syndrome: P0649<br />
pediatric obesity: P0649<br />
pediatrics: P1371<br />
pedigree: P1372<br />
pedigree splitting: C44<br />
Pejvakin: P0089<br />
Pelizaeus-Merzbacher disease: P0217<br />
Pendred: P0244<br />
Pendred Syndrome: P0966<br />
penetrance: P0125<br />
People of Blockaded Leningrad: P1058<br />
people with disabilities: P1373<br />
performance-related traits: P1<strong>16</strong>4<br />
pergnancy loss: P1064<br />
Pericentric inversion: P0378, P0380<br />
perinatal autopsy: P0486<br />
periostin: P0836<br />
peripheral blood: P1300<br />
perlecan: C61, P1102<br />
Peroxisomal disorders: P1410<br />
peroxisome: P0634<br />
Persian Gulf: P1103<br />
personal beliefs: P1353<br />
Personal Health Records: P1365<br />
pervasive developmental disorder: P0381<br />
Peutz-Jeghers Syndrome: P06<strong>19</strong>
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