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2009 Vienna - European Society of Human Genetics

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Keyword Index<br />

ALL: P06.005, P06.177<br />

Allan-Herndon-Dudley: P11.069<br />

Allele specific PCR: P11.004<br />

alleles frequencies: P10.16<br />

Allelic association: P09.077<br />

allelic frequency: P09.019<br />

allelic imbalance: P06.098<br />

allelic losses: P06.099<br />

ALMS1: P16.01<br />

Alpers syndrome: P13.02<br />

alpha 1-antitrypsin: P11.005<br />

alpha fetoprotein: P05.01<br />

alpha globin gene: P12.010<br />

Alpha Synuclein: P17.58<br />

Alpha thalassemia: P02.170, P02.171,<br />

P12.010<br />

Alpha-1 antitrypsin (AAT),: P06.006,<br />

P10.02<br />

alpha-galactosidase A: P13.03<br />

alpha-synuclein: C12.2<br />

Alpha-Thalassemia: P02.172<br />

Alport syndrome: P02.007, P12.011,<br />

P12.012<br />

Alström syndrome: P12.013, P16.01<br />

alternative splicing: C01.2, P11.041<br />

Alu insertion/deletion polymorphism:<br />

P10.62, P17.39<br />

Alveolar capillary dysplasia: P02.008<br />

ALX: C04.3<br />

ALX3: C04.2<br />

Alzheimer´s disease: P03.004, P08.04,<br />

P08.05, P08.06, P09.024, P10.03,<br />

P12.015<br />

Alzheimer’s disease (AD) - early onset:<br />

P12.014<br />

ambiguous genitalia: P02.143, P03.201<br />

AMD: P10.04<br />

amelogenesis imperfecta: P02.026<br />

Amelogenin: P02.099<br />

Amenorrhea: P03.005<br />

amino acid: P13.43<br />

AML: C06.5, P06.069, P06.167, P06.168<br />

AMME syndrome: P02.009<br />

Amniocetesis: P05.24<br />

AMRF: P08.07<br />

Amyotrophic Lateral Sclerosis: S10.3<br />

Anatolian population.: P10.57, P10.82<br />

Anderson Fabry Disease: P13.03<br />

androgen receptor: P03.193, P12.016<br />

Anesthesia: P11.045<br />

aneuploidies: P05.53<br />

aneuploidy: C07.1, P03.006, P03.007,<br />

P03.016, P03.018, P03.045, P04.01,<br />

P04.32, P05.02, P05.59, P11.020<br />

Angelman syndrome: P03.170<br />

angiogenesis: P02.050, P09.044<br />

Angiotensin converting enzyme: P17.39,<br />

P17.45<br />

Anhidrotic ectodermal dysplasia: P12.017<br />

animal model: P17.66<br />

ANKRD1: C13.3<br />

Anomaly Dandy-Walker: P05.04<br />

anophthalmia-microphthalmia: P12.147<br />

Anorexia nervosa: P09.007<br />

Antihypertensive: P03.025<br />

aortic aneurysm: P08.08<br />

aortoliac occlusive disease: P08.43<br />

APC gene: P06.161<br />

APC: P06.158, P06.159, P06.160,<br />

P06.163<br />

APEX: P06.108<br />

aplastic anemia: P02.034<br />

aplastic breast: P02.095<br />

apoA1/C3/A5 gene cluster: P17.11<br />

ApoA5: P17.42<br />

APOC3: P08.09<br />

ApoE: P09.008, P17.34<br />

Apolipoprotein A5: P10.06<br />

Apolipoprotein B: P17.40<br />

apolipoprotein E polymorphism: P13.20<br />

Apolipoprotein E: P17.18<br />

Apoptosis: P03.197, P09.029, P14.09,<br />

P14.15<br />

APP, RUNX1, DIRK1A: P08.04<br />

ARCMT2: P12.101<br />

ARE sequences: P06.095<br />

Armenian patients: P08.28<br />

array CGH, SNP array: P03.082<br />

array CGH: C16.3, P03.076, P03.077,<br />

P03.083, P03.093, P03.099, P03.105,<br />

P03.162, P03.165, P05.54, P06.005,<br />

P06.167, PL2.4, S09.1<br />

array comparative genomic hybridization:<br />

P06.184<br />

Array Comparative Hybridization: C02.1<br />

arrayCGH: C07.5, C16.6, P03.079,<br />

P07.10, P11.006, S05.2<br />

Array-CGH: C16.2, P02.004, P02.084,<br />

P02.090, P02.155, P03.008, P03.040,<br />

P03.067, P03.068, P03.069, P03.084,<br />

P03.085, P03.086, P03.087, P03.088,<br />

P03.096, P03.097, P03.145, P03.161,<br />

P05.34, P05.42, P07.03<br />

arrhythmia syndromes: P16.05<br />

Arrhythmias: C13.6, P16.07<br />

Arrhythmogenic right ventricular<br />

cardiomyopathy: P16.09, P16.18<br />

ARRP: P12.018<br />

ARS: P12.107<br />

Arsenic: P03.009<br />

arterial anomalies: P02.092<br />

arterial hypertension: P17.14<br />

arterial ischemic stroke: P17.19<br />

arterial stiffness: P08.10<br />

Artrogryphosis: P02.073<br />

ARVC: P16.10<br />

ARX: P03.157<br />

Assisted reproductive technique: P05.47<br />

association study design: P08.13<br />

association study: P06.030, P08.11,<br />

P08.12, P08.20, P08.57, P08.63,<br />

P09.010, P09.012, P17.51, PL2.6<br />

association: C17.5, P06.076, P09.004,<br />

P09.009, P09.031, P09.067, P09.087,<br />

P09.109, P10.15, P11.047, P11.048<br />

associations: P08.64<br />

asthma: P02.010, P08.14, P09.011,<br />

P09.012, P10.48<br />

Ataxia telangiectasia: P12.019<br />

Ataxia type 10: P02.011<br />

ataxia: C03.3, P12.065, P17.59<br />

Ataxia-telangiectasia: P03.004<br />

ATGL: P10.05<br />

atherogenic dyslipidemia: P17.11<br />

Atherosclerosis: P17.18, P17.20, P17.40<br />

athletes: P09.013, P09.014, P09.015,<br />

P09.043, P09.044, P09.066, P09.129<br />

ATM gene: P12.019<br />

Atopic asthma: P10.07<br />

Atopic Eczema: P08.15, P09.016<br />

ATOX1: P13.49<br />

ATP1A3: P17.62<br />

ATP7B gene: P12.167<br />

ATP7B: P13.49<br />

Attention-Deficit Hyperactivity Disorder:<br />

P09.017<br />

ATXN10: P02.011<br />

ATXN2: P10.74<br />

atypical deletion: P03.183<br />

autism: P03.094, P09.018, P09.019,<br />

P09.112<br />

Autisme: P03.075<br />

Autoantibodies: P06.104<br />

autoimmune diseases: P15.01<br />

Autoimmune thyroid disease: P09.020<br />

autoimmune: C17.5<br />

automation: P03.052<br />

autophagy: P12.166<br />

autosomal dominant cardiomyopathy:<br />

P16.30<br />

Autosomal dominant congenital cataract:<br />

P12.020<br />

Autosomal dominant inheritance: P02.046,<br />

P02.154<br />

autosomal dominant optic atrophy:<br />

P12.082<br />

Autosomal dominant polycystic kidney<br />

disease: P12.021

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