1p36 420
4q21.2 749
6p 89
7q11.22–q21.12 812
8q21–q22 966
9p21–22 121
14q24.1–14q24.3 prelingual 77
15q15 497
18q21.1 623
ABCC6/MRP6 gene 215
Activin receptor-like kinase 279
Adams–Oliver syndrome 457
Affected siblings 179
Age grouping 425
Alcohol 687
Aldosterone 395
ALK-1 279
Allele combinations 573
Allele frequency distribution 444
Allele sharing method 17
Alpha satellite DNA 357
Alternative splicing 951
Alu 931
ALX4 457, 892
Aneuploidy 325, 337, 754
Aniridia 163
Anterior segment dysgenesis 163
Anticipation 737
Apo(a) isoforms 693
ApoB 444
Apolipoprotein E 437
Apoptosis 784
Arrhythmogenic cardiomyopathy 69
ARVD1 69
Asperger syndrome 189
Association 395, 819
Association study 23, 659
Asthma 590, 619
Asymptomatic carriers 923
Atopy 590
Attitudes 565
Austronesian 931
Autism 189
Autoimmune thyroid disease 81
Autoimmunity 840
Autosomal dominant nonsyndromic hearing loss 121
Autosomal recessive hypotrichosis 623
Autosomal recessive nonsyndromic hearing impairment 812
Autosomal recessive nonsyndromic hearing loss 77
B-cell lymphomas 416
Balanced translocation 189
Barth syndrome 97
Bi-allelic and microsatellite polymorphisms 705
Bioinformatics 57
Bisulfite 493
BMI 271, 425
Bone dysplasia 639
Bone marrow donor registry 794
BrCa1 210
BRCA1 725
BRCA1 mutation 489
BRCA1/2 464
BRCA2 210, 725, 951
BRCA2 gene 955
C282Y 225
CAG repeat 808
CAG repeat expansion 629
Calcineurin 659
Calsequestrin 888
Cancer 725
Candida 433
Candidate gene 69
Candidate gene prediction 57
Candidate region 189
CARD15 6
Cardiac hypertrophy 659
Cardio-facio-cutaneous syndrome 64, 85
Cardiovascular disease 23
Cardiovascular risk factors 845
Cataracts 770
Catecholamines 945
Cationic trypsinogen gene 93
CATSPER2 497
CD11B 884
CDKN2A germline mutations 288
cenM-FISH on synaptonemal complexes 879
Central nervous system 315
Centromeres 357
Cerebellar ataxia 770
CFC 201
CFTR 687
CFTR gene 543
CGH 452
Chaperone 784
Chromosome 11 12, 64, 433
Chromosome 16p11.2 145
Chromosome 1q 585
Chromosome 2 232, 835
Chromosome 22 816
Chromosome 7q21–q34 409
Chromosome 9 754
Chromosome marker 452
Clavicular hypoplasia 892
Cleft lip and palate 835
Cleft palate 265
Cleidocranial dysplasia 892
clustering 179
CMC 433
CMT1A 170
CNS development 530
COCH 744
coeliac disease 828
COL11A1 185, 265
COL11A2 265
COL2A1 265
Collagen 265
Communication 725
Community genetics 872
Complex disease 573
Complex genetic disorders 179
Complex traits 779
Congenital cataract 375
Conotruncal heart defects 349
Consequences 633
Contiguous gene syndromes 497
Copy number 275
Coronary artery disease 437, 671
Corpus callosum 315
Corpus callosum agenesis 530
Corticosteroids 619
Cowden syndrome 665
Croatia 535
CROHN'S disease 6, 179, 237, 884
Cryptic 89
Cryptic chromosome aberration 643
CTLA4 81
Culture 493
Cystathionine β-synthase (CBS) 23
Cystic fibrosis 385, 687
Cystinosis 503
Data mining 57
DC domain 155
DCC 840
Deafness 744
Deletion 89, 375, 931
Deletion, ring chromosome 749
Desmocollins 623
Desmogleins 623
DFNA23 77
DFNA47 121
DFNA9 77
DFNB32 185
DFNB35 77
DFNB39 812
DFNB5 77
DHPLC 85, 493
Differential methylation 138
DiGeorge/Velo-cardio-facial syndrome 349
Digyny 972
Dilated cardiomyopathy 97
Diploidy 754
Direct sequencing 858
Discrimination 561
DNA damage 671
DNA polymorphism 444
DNA repair 489
Dominance 710
DYS385 304
E2 931
Early-onset breast cancer 464
Eating disorders 945
Echocardiography 395
Economics 475
EEC syndrome 700
Effective population size 385
Elderly 225
Empirical survey 475
Enlarged vestibular aqueduct 916
Epistasis 573
Epsilon-sarcoglycan 138
Ethical dilemma 872
Ethics 475
Europe 385, 475
European MH group 342
Exercise intolerance 516
Face recognition 555
Facial pattern 555
Familial breast cancer 633
Familial cancer clinic 633
Familial intracranial aneurysm 737
Familial ligand-defective apoB 100 959
Familial Mediterranean fever 50
Family selection 489
FCH domain 744
FG syndrome 352
First polar body 325
FISH 89, 325, 337, 452, 754, 858
FJHN 145
FKRP gene 923
Flow sorted chromosomes 315
Folate 671
Folate metabolism 245
Forensic genetics 39
Forensic markers 39
Founder effect 288, 916, 931
Founder populations 597
Fourth locus 409
Foveal hypoplasia 163
French Canadian population 585
G4.5 (TAZ) gene mutations 97
Gastritis 380
Gaucher disease 369
Gene conversion 275
Gene–environment interaction 693
Gene–gene interaction 693
Gene-gene interaction 945
Gene localisation 185
Gene localization 816
Gene structure 516
Genealogy 705
Genetic association 840
Genetic collection management 475
Genetic data 561
Genetic diagnosis 342, 959
Genetic diversity 385, 444
Genetic heterogeneity 590
Genetic linkage 112
Genetic polymorphisms 437, 659
Genetic screening 565
Genetic testing 489, 561, 565, 872
Genetics 232
Genome scan 271, 828
Genome-wide scan 112
Genomic deletion 497
Genotyping 357
German population 464
Germline mutations 464
Gliostatin 102
Glycogen storage disease 516
Gout 145
GSMA 828
Guidelines 633
H63D 225
Handedness 779
Haplogroups 535
Haplotype analysis 6
Haplotypes 395, 489, 509, 603, 760, 808, 896
Hardy-Weinberg equilibrium 39
Healthy population 679
Hearing loss 652
Heart 395
Height 271
Hemochromatosis 225
Hereditary cancer 611
Hereditary hemorrhagic telangiectasia 279
Hereditary prostate cancer 17
Heritable 652
Heterozygotes 297
Heterozygous familial hypercholesterolemia 959
HFE 225
HFE2 585
High frequency 652
Hirschsprung’s disease 364
Histological subtype 611
HLA 81
HLA haplotype frequency 794
HMSN 170
HNPCC 725
HNPP 170
Homoallelism 872
Homocysteine 23, 671
Homozygosity 872
Homozygosity mapping 770, 966
Human biobanking 475
Human deafness 816
Human genetics 611
Human population genetics 597
Human spermatoza 337
Huntington's disease 30
Hybrid vaccinia expression system 369
Hyper-IgD and periodic fever syndrome 196
Hypertrophy 395
Hyperuricaemia 145
Hypervariable region 1 253
Hypodontia 866
IBD 884
ICAM-1 679
IDDM6 840
Idiopathic pancreatitis 543
IL-4R 884
Immunocytogenetics 879
Imprinting 138, 425, 493
In vitro contracture test 342
Incidence of inborn errors 196
India 253
inflammatory bowel disease 112, 237
Insurers 561
Interaction 573, 693
Interleukin-7 receptor α 509
Intermediate alleles 872
Intestinal metaplasia 380
Intra-chromosomal recombination 304
Iron 225
Isolate populations 535
Isolated autosomal recessive optic atrophy 966
Italian population 503
Italy 50
ITGAM 884
Japanese 916
Japanese population 402
Jewish origin 288
Juvenile hemochromatosis 585
Kidney disease 693
Kidney transplantation 693
Klippel–Feil syndrome 468
Language impairment 89
Laser biopsy 325
Lay people 565
LCA 420
LCA9 420
LDL receptor gene mutations 959
Leber's congenital amaurosis 420
Leigh disease 375
Lens 784
LGMD2I 923
LHβ gene 402
Life insurance 561
Ligation 357
LINE-1 931
Linkage 81, 271, 409, 420, 425, 433, 590, 845
Linkage analysis 17, 237, 585, 779, 835
Linkage disequilibrium 23, 237, 437, 489, 760, 819
Linkage disequilibrium mapping 125
Linkage interval mapping 125
Linkage mapping 812
Lipoprotein(a) 693
Lipoprotein phenotype 959
LTC4S 619
Macrodeletion 896
Male breast cancer 210
Male-infertility 497
Malignant hyperthermia 342
Manic depressive illness 597
Marenostrin 50
Marinesco–Sjögren syndrome 770
MCKD 145
Mediterranean 288
Medullary thyroid carcinoma 364
MEFV mutations 50
Meiotic recombination 879
Melanoma families 288
Meniere's disease 744
Mental retardation 352, 770
Meta-analysis 828
Metabolic myopathy 516
Methionine synthase reductase 671
Methylation 493
Methylenetetrahydrofolate reductase (MTHFR) 245, 671
Mevalonate kinase 196
Mevalonic aciduria 196
Micronucleus test 671
Microsatellites 304
Midline defects 315
Midwives 565
Mitochondrial DNA 253, 375, 652, 896
Mitochondrial myopathy 102
MNGIE 102, 547
Molecular pathology 215
MSUD 931
MSX2 457, 892
mtDNA deletions 102
MUC1 380
Mucin 380
Multicolour FISH 643
Multilocus statistics 573
Multiple endocrine neoplasia 364
Multiple mtDNA deletions 547
Multiple sclerosis 509, 573
Multiple testing 573
Multiplex assay 416
Mutation 215, 700, 714, 888, 931, 955
Mutation analysis 185, 457
Mutation origin 503
Mutation spectra 385
Mutational analysis 210
Mutations 196, 369, 402, 468, 503, 543
Myoclonus-dystonia syndrome 138
Myopathy 770
Neocentromere 749
Neonatal hypertrypsinaemia 93
Nephropathy 145
Neurodegeneration 808
Neuropathy 170, 770
Neutropenia 97
Nibrin 297
Nijmegen Breakage Syndrome 297, 416
NOD2 237
Nonhomologous recombination 931
Nonsyndromic hearing impairment 185
Noonan 201
Noonan syndrome 85
Novel mutations 923
NSD1 858
NTD 245
Nuclear inclusions 784
Obstetric cholestasis 232
Oligodontia 866
Oocyte 325
Oogenesis 493
Organic aciduria 97
Osteoarthritis 714
Osteosarcoma 611
Ovarian cancer 210, 955
Overgrowth 665
Ovulatory disorders 402
p16 protein structure–function analysis 288
padlock probes 357
Paired-box gene 468
Paiwan 931
Pakistan 77, 812
Pancreatic secretory trypsin inhibitor gene 93
Pancreatitis 687
Parentage testing 39
Parental age 718
Parietal foramina 892
Partial isodisomy 629
Paternal age 754
PAX1 468
PAX6 mutations 163
PAX9 866
PCR-SSCP 714
PDS (SLC26A4) 916
Pendred syndrome 916
Penetrance 225
PEO 547
Periodic fever 50
Periventricular nodular heterotopia 530
Phosphorylase kinase deficiency 516
Physicians 565
PI3-kinase 665
Plasminogen activator inhibitor 603
PNA 337
POLG 547
Polyamine defect 937
Polyglutamine disorders 872
Polymorphisms 23, 245, 380, 395, 679, 760, 840, 888
Pooled analysis 828
Population genetics 39, 444, 760
Population history 304
Postaxial polydactyly 409
Power 819
Predictive DNA-testing 30
Preeclampsia 232
Preimplantation genetic diagnosis 325
Prenatal detection 749
PRINS 337
Professionals 565
Promoter polymorphism 619
Prostate cancer aggressiveness 17
Proteus syndrome 665
PRSS1 687
Pseudogene 516
Pseudoxanthoma elasticum 215
Psychiatric genetics 597
Psychological impact 30
PTPN11 201, 201
PTPN11 gene 64
PTT 951
PXE 215
Pyrin 50
QTL 125
Quantitative assay 170
Quantitative trait 652
Quantitative trait locus (QTL) 845
R3500Q mutation 959
Radiosensitivity 297
Rapp–Hodgkin syndrome 700
Real-time PCR 170
Recessive genetic conditons 652
Recurrent abortion 972
Reduced folate carrier 1 (RFC-1) 245
Reduced penetrance 196
Referral 633
RET mutation 364
Retina 420
Retinitis pigmentosa 155
Risk 725
ROA1 966
Robin sequence 265
Robustness 819
RP1 155
RP1L1 155
RUNX2 892
Ryanodine receptor 342, 888
Sardinia 802
SCA17 629
SCKL 851
SCKL3 851
Screening 225
Seckel syndrome 851
Second malignancy 611
Sex ratio 754
Short tandem repeats 304
SHP-2 201
Sib-pairs 590
Single-nucleotide poly-morphism 357, 509, 603, 652
Skewed X-inactivation 352
Slavic 416
Smad3 gene 714
SMN 275
SMN1 275
SMN2 275
SNP 6
Sotos syndrome 858
Spastic paraparesis 710
Spastin 710
Spatial autocorrelation 385
Spatial patterns 385
Spermatozoa 754
Spermine synthase 937
SPG4 710
Spinal muscular atrophy 275
SPINK1 687
SPINK1 gene 543
Spinocerebellar ataxias 808
Spondyloepiphyseal dysplasia tarda 639
Spontaneous chromosome instability 297
Sporadic mutation 718
STAT6 884
Stomach cancer 955
STR database 39
Structural aberrations 754
Subtelomeric 89
Subtelomeric chromosome regions 643
Sudden cardiac death 69
Surname 794, 802
Tandem duplication 497
TATA-binding protein 629
TBX1 349
TCOF1 718
TDT 819
TGF-β 279
TGF-β receptors 279
Thymidine phosphorylase 102
Tissue-type plasminogen activator 603
Tooth development 866
Tooth size 866
TP63 700
Transcription 619
Translocation 530
Transmission disequilibrium test 835
TRAPP 643
Treacher Collins syndrome 718
Tribes 253
Triploidy 972
Trisomy 17p 452
Tristan da Cunha 705
Trypsinogen 687
Tuberous sclerosis 665
Tumour suppressor gene 951
Turkish 851
Twin pairs 845
Type 1 diabetes mellitus 81
Ulcerative colitis 237
Variance component models 125
Variant NBS1 proteins 297
Ventricular arrhythmia 888
Vertebral anomalies 468
Vertigo 744
Weaver syndrome 858
X-linked 639
X-linked mental retardation 937
XLMR carriers 352
Y chromosome 535, 705, 802
Y chromosome diversity 304
Zn-finger 530
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Keyword Index to Volume 11. Eur J Hum Genet 11, 982–985 (2003). https://doi.org/10.1038/sj.ejhg.5201123
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DOI: https://doi.org/10.1038/sj.ejhg.5201123