| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14
|
Wiszniewski, Wojciech
|
|
2007
|
|
3-4 |
p. 433-439
|
artikel
|
| 2 |
A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia
|
Solovyev, Aisen V.
|
|
|
|
3-4 |
p. 697-707
|
artikel
|
| 3 |
Advancing discovery in hearing research via biologist-friendly access to multi-omic data
|
Hertzano, Ronna
|
|
|
|
3-4 |
p. 319-322
|
artikel
|
| 4 |
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis
|
Ali, Ghazanfar
|
|
2007
|
|
3-4 |
p. 319-325
|
artikel
|
| 5 |
Analysis of genotype–phenotype relationships in 90 Chinese probands with Waardenburg syndrome
|
Wang, Guojian
|
|
|
|
3-4 |
p. 839-852
|
artikel
|
| 6 |
An entropy-based genome-wide transmission/disequilibrium test
|
Zhao, Jinying
|
|
2007
|
|
3-4 |
p. 357-367
|
artikel
|
| 7 |
Announcement
|
|
|
2007
|
|
3-4 |
p. 527
|
artikel
|
| 8 |
A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3
|
Hanein, Sylvain
|
|
2007
|
|
3-4 |
p. 261-273
|
artikel
|
| 9 |
A novel locus for autosomal recessive spastic ataxia on chromosome 17p
|
Bouslam, Naima
|
|
2007
|
|
3-4 |
p. 413-420
|
artikel
|
| 10 |
A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene
|
Abdelfatah, Nelly
|
|
|
|
3-4 |
p. 965-979
|
artikel
|
| 11 |
AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss
|
Thorpe, Ryan K.
|
|
|
|
3-4 |
p. 877-887
|
artikel
|
| 12 |
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene
|
Pater, Justin A.
|
|
|
|
3-4 |
p. 431-444
|
artikel
|
| 13 |
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1
|
Ramachandran, Ramya Devi
|
|
2007
|
|
3-4 |
p. 475-482
|
artikel
|
| 14 |
A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis
|
Højland, Allan Thomas
|
|
|
|
3-4 |
p. 951-963
|
artikel
|
| 15 |
AZFc somatic microdeletions and copy number polymorphism of the DAZ genes in human males exposed to natural background radiation
|
Premi, Sanjay
|
|
2007
|
|
3-4 |
p. 337-346
|
artikel
|
| 16 |
Baldness and the androgen receptor: the AR polyglycine repeat polymorphism does not confer susceptibility to androgenetic alopecia
|
Ellis, Justine A.
|
|
2007
|
|
3-4 |
p. 451-457
|
artikel
|
| 17 |
Candidate SNPs for a universal individual identification panel
|
Pakstis, Andrew J.
|
|
2007
|
|
3-4 |
p. 305-317
|
artikel
|
| 18 |
Central auditory deficits associated with genetic forms of peripheral deafness
|
Michalski, Nicolas
|
|
|
|
3-4 |
p. 335-345
|
artikel
|
| 19 |
Cholesteryl ester transfer protein gene haplotypes, plasma high-density lipoprotein levels and the risk of coronary heart disease
|
McCaskie, Pamela A.
|
|
2007
|
|
3-4 |
p. 401-411
|
artikel
|
| 20 |
COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype–genotype study
|
Oh, Kyung Seok
|
|
|
|
3-4 |
p. 889-901
|
artikel
|
| 21 |
Comments on the paper by D. Li and L. He: Meta-analysis shows association between the tryptophan hydroxylase (TPH) gene and schizophrenia
|
Sand, P. G.
|
|
2007
|
|
3-4 |
p. 409-411
|
artikel
|
| 22 |
Common variation in KLKB1 and essential hypertension risk: tagging-SNP haplotype analysis in a case-control study
|
Lu, Xiangfeng
|
|
2007
|
|
3-4 |
p. 327-335
|
artikel
|
| 23 |
Correction to: Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan
|
Iwasa, Yoh-ichiro
|
|
|
|
3-4 |
p. 993-995
|
artikel
|
| 24 |
Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant
|
Smits, Jeroen J.
|
|
|
|
3-4 |
p. 991
|
artikel
|
| 25 |
Correction to: Genetic etiology of non-syndromic hearing loss in Latin America
|
Lezirovitz, Karina
|
|
|
|
3-4 |
p. 997
|
artikel
|
| 26 |
CYP19A1 polymorphisms are associated with bone mineral density in Chinese men
|
Hong, Xiumei
|
|
2007
|
|
3-4 |
p. 491-500
|
artikel
|
| 27 |
Deafness-in-a-dish: modeling hereditary deafness with inner ear organoids
|
Romano, Daniel R.
|
|
|
|
3-4 |
p. 347-362
|
artikel
|
| 28 |
Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan
|
Iwasa, Yoh-ichiro
|
|
|
|
3-4 |
p. 865-875
|
artikel
|
| 29 |
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation
|
Rim, John Hoon
|
|
|
|
3-4 |
p. 915-927
|
artikel
|
| 30 |
DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss
|
Bu, Fengxiao
|
|
|
|
3-4 |
p. 401-411
|
artikel
|
| 31 |
Editorial
|
Cooper, David N.
|
|
2007
|
|
3-4 |
p. 217
|
artikel
|
| 32 |
Editorial to the Special Issue on “The molecular genetics of hearing and deafness”
|
Booth, Kevin T.
|
|
|
|
3-4 |
p. 305-306
|
artikel
|
| 33 |
Edwin K. Silverman, Steven D. Shapiro, David A. Lomas, Scott T. Weiss: Respiratory Genetics
|
Hall, Ian P.
|
|
2007
|
|
3-4 |
p. 525
|
artikel
|
| 34 |
Enrichment of longevity phenotype in mtDNA haplogroups D4b2b, D4a, and D5 in the Japanese population
|
Alexe, Gabriela
|
|
2007
|
|
3-4 |
p. 347-356
|
artikel
|
| 35 |
Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis
|
Rizzolio, Flavio
|
|
2007
|
|
3-4 |
p. 441-450
|
artikel
|
| 36 |
Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings
|
Abbasi, Wafaa
|
|
|
|
3-4 |
p. 387-400
|
artikel
|
| 37 |
Evidence for a large double-cruciform DNA structure on the X chromosome of human and chimpanzee
|
Losch, Florian O.
|
|
2007
|
|
3-4 |
p. 337-343
|
artikel
|
| 38 |
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant
|
Smits, Jeroen J.
|
|
|
|
3-4 |
p. 465-484
|
artikel
|
| 39 |
First glance at the molecular etiology of hearing loss in French-Canadian families from Saguenay-Lac-Saint-Jean’s founder population
|
Cruz Marino, Tania
|
|
|
|
3-4 |
p. 607-622
|
artikel
|
| 40 |
Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes
|
Gao, Xue
|
|
|
|
3-4 |
p. 821-838
|
artikel
|
| 41 |
Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss
|
Honda, Keiji
|
|
|
|
3-4 |
p. 455-464
|
artikel
|
| 42 |
Genetic etiology of hearing loss in Iran
|
Babanejad, Mojgan
|
|
|
|
3-4 |
p. 623-631
|
artikel
|
| 43 |
Genetic etiology of hearing loss in Russia
|
Posukh, Olga L.
|
|
|
|
3-4 |
p. 649-663
|
artikel
|
| 44 |
Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries
|
Al Mutery, Abdullah
|
|
|
|
3-4 |
p. 595-605
|
artikel
|
| 45 |
Genetic etiology of non-syndromic hearing loss in Europe
|
del Castillo, Ignacio
|
|
|
|
3-4 |
p. 683-696
|
artikel
|
| 46 |
Genetic etiology of non-syndromic hearing loss in Latin America
|
Lezirovitz, Karina
|
|
|
|
3-4 |
p. 539-581
|
artikel
|
| 47 |
Genetic hearing loss: the audiologist’s perspective
|
Brewer, Carmen C.
|
|
|
|
3-4 |
p. 311-314
|
artikel
|
| 48 |
Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges
|
Souissi, Amal
|
|
|
|
3-4 |
p. 583-593
|
artikel
|
| 49 |
Genetics of otosclerosis: finally catching up with other complex traits?
|
Tavernier, Lisse J. M.
|
|
|
|
3-4 |
p. 939-950
|
artikel
|
| 50 |
Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2
|
Stemerdink, M.
|
|
|
|
3-4 |
p. 737-758
|
artikel
|
| 51 |
Genetic testing for pediatric hearing loss: no time to waste
|
Kenna, Margaret A.
|
|
|
|
3-4 |
p. 315-317
|
artikel
|
| 52 |
Genetic variation in prehistoric Sardinia
|
Caramelli, David
|
|
2007
|
|
3-4 |
p. 327-336
|
artikel
|
| 53 |
Genetic variation in tumor necrosis factor and lymphotoxin-alpha (TNF–LTA) and breast cancer risk
|
Gaudet, Mia M.
|
|
2007
|
|
3-4 |
p. 483-490
|
artikel
|
| 54 |
Germ-line DNA copy number variation frequencies in a large North American population
|
Zogopoulos, George
|
|
2007
|
|
3-4 |
p. 345-353
|
artikel
|
| 55 |
Hearing loss and tinnitus: association studies for complex-hearing disorders in mouse and man
|
Boussaty, Ely Cheikh
|
|
|
|
3-4 |
p. 981-990
|
artikel
|
| 56 |
Hearing loss in Africa: current genetic profile
|
Adadey, Samuel Mawuli
|
|
|
|
3-4 |
p. 505-517
|
artikel
|
| 57 |
Heritability and shared environment estimates for myopia and associated ocular biometric traits: the Genes in Myopia (GEM) family study
|
Chen, Christine Yi-Chin
|
|
2007
|
|
3-4 |
p. 511-520
|
artikel
|
| 58 |
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores
|
Miyoshi, Takushi
|
|
|
|
3-4 |
p. 363-382
|
artikel
|
| 59 |
Human gene mutations
|
Orth, Dagmar
|
|
2005
|
|
3-4 |
p. 533
|
artikel
|
| 60 |
Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future
|
Acharya, Anushree
|
|
|
|
3-4 |
p. 413-430
|
artikel
|
| 61 |
Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations
|
Kozlowski, Piotr
|
|
2006
|
|
3-4 |
p. 389-400
|
artikel
|
| 62 |
In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome
|
Rebibo-Sabbah, Annie
|
|
2007
|
|
3-4 |
p. 373-381
|
artikel
|
| 63 |
M. K. Raizada, J. F. R. Paton, S. Kasparov, M. J. Katovich (eds): Cardiovascular genomics
|
Loughna, Siobhan
|
|
2007
|
|
3-4 |
p. 523-524
|
artikel
|
| 64 |
Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss
|
Batissoco, Ana Carla
|
|
|
|
3-4 |
p. 519-538
|
artikel
|
| 65 |
Molecular characterization of a polymorphic 3-Mb deletion at chromosome Yp11.2 containing the AMELY locus in Singapore and Malaysia populations
|
Yong, Rita Y. Y.
|
|
2007
|
|
3-4 |
p. 237-249
|
artikel
|
| 66 |
Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene
|
Kawai, Yoko
|
|
2005
|
|
3-4 |
p. 531-532
|
artikel
|
| 67 |
Molecular genetic landscape of hereditary hearing loss in Pakistan
|
Naz, Sadaf
|
|
|
|
3-4 |
p. 633-648
|
artikel
|
| 68 |
Multilocus OCA2 genotypes specify human iris colors
|
Frudakis, Tony
|
|
2007
|
|
3-4 |
p. 311-326
|
artikel
|
| 69 |
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation
|
Kalscheuer, Vera M.
|
|
2007
|
|
3-4 |
p. 501-509
|
artikel
|
| 70 |
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder
|
Faridi, Rabia
|
|
|
|
3-4 |
p. 805-819
|
artikel
|
| 71 |
Novel gene discovery for hearing loss and other routes to increased diagnostic rates
|
Kremer, Hannie
|
|
|
|
3-4 |
p. 383-386
|
artikel
|
| 72 |
Novel human pathological mutations
|
|
|
2007
|
|
3-4 |
p. 413-420
|
artikel
|
| 73 |
Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum
|
Ali, Bassam R.
|
|
2007
|
|
3-4 |
p. 389-395
|
artikel
|
| 74 |
Polymorphisms in the 3′ UTR in the neurocalcin δ gene affect mRNA stability, and confer susceptibility to diabetic nephropathy
|
Kamiyama, Masumi
|
|
2007
|
|
3-4 |
p. 397-407
|
artikel
|
| 75 |
Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss
|
Nishio, Shin-ya
|
|
|
|
3-4 |
p. 929-937
|
artikel
|
| 76 |
Progress in defining the molecular biology of age related macular degeneration
|
Lotery, Andrew
|
|
2007
|
|
3-4 |
p. 219-236
|
artikel
|
| 77 |
Quantitative effects of common genetic variations in the 3′UTR of the human LDL-receptor gene and their associations with plasma lipid levels in the Atherosclerosis Risk in Communities study
|
Muallem, Hind
|
|
2007
|
|
3-4 |
p. 421-422
|
artikel
|
| 78 |
Quantitative effects of common genetic variations in the 3′UTR of the human LDL-receptor gene and their associations with plasma lipid levels in the Atherosclerosis Risk in Communities study
|
Muallem, Hind
|
|
2007
|
|
3-4 |
p. 421-431
|
artikel
|
| 79 |
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss
|
Florentine, Michelle M.
|
|
|
|
3-4 |
p. 495-504
|
artikel
|
| 80 |
Racial and ethnic disparities in genetic testing for hearing loss: a systematic review and synthesis
|
Rouse, Stephanie L.
|
|
|
|
3-4 |
p. 485-494
|
artikel
|
| 81 |
Refinement of the genetic cause of ATR-16
|
Harteveld, Cornelis L.
|
|
2007
|
|
3-4 |
p. 283-292
|
artikel
|
| 82 |
Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome
|
Wieczorek, Dagmar
|
|
|
|
3-4 |
p. 369-376
|
artikel
|
| 83 |
Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome
|
Wieczorek, Dagmar
|
|
2007
|
|
3-4 |
p. 369-376
|
artikel
|
| 84 |
Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene
|
Zhang, Qingjiong
|
|
2007
|
|
3-4 |
p. 293-299
|
artikel
|
| 85 |
SP110 polymorphisms are not associated with pulmonary tuberculosis in a South African population
|
Babb, C.
|
|
2007
|
|
3-4 |
p. 521-522
|
artikel
|
| 86 |
Synergistic contribution of CD14 and HLA loci in the susceptibility to Buerger disease
|
Chen, Zhiyong
|
|
2007
|
|
3-4 |
p. 367-372
|
artikel
|
| 87 |
Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms
|
Akagawa, Hiroyuki
|
|
2007
|
|
3-4 |
p. 377-387
|
artikel
|
| 88 |
Tagging SNPs in the kallikrein genes 3 and 2 on 19q13 and their associations with prostate cancer in men of European origin
|
Pal, Prodipto
|
|
2007
|
|
3-4 |
p. 251-259
|
artikel
|
| 89 |
The advantages of dense marker sets for linkage analysis with very large families
|
Thomson, Russell
|
|
2007
|
|
3-4 |
p. 459-468
|
artikel
|
| 90 |
The effects of polymorphisms in genes from the renin–angiotensin, bradykinin, and fibrinolytic systems on plasma t-PA and PAI-1 levels are dependent on environmental context
|
Asselbergs, Folkert W.
|
|
2007
|
|
3-4 |
p. 275-281
|
artikel
|
| 91 |
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification
|
Delmaghani, Sedigheh
|
|
|
|
3-4 |
p. 709-735
|
artikel
|
| 92 |
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients
|
Usami, Shin-ichi
|
|
|
|
3-4 |
p. 665-681
|
artikel
|
| 93 |
The hearing-impaired patient: what the future holds
|
Smith, Richard J. H.
|
|
|
|
3-4 |
p. 307-310
|
artikel
|
| 94 |
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study
|
Thorpe, Ryan K.
|
|
|
|
3-4 |
p. 853-863
|
artikel
|
| 95 |
The noncoding genome and hearing loss
|
Avraham, Karen B.
|
|
|
|
3-4 |
p. 323-333
|
artikel
|
| 96 |
The physical phenotype of girls and women with Turner syndrome is not X-imprinted
|
Bondy, Carolyn A.
|
|
2007
|
|
3-4 |
p. 469-474
|
artikel
|
| 97 |
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
|
Bahena, Paulina
|
|
|
|
3-4 |
p. 785-803
|
artikel
|
| 98 |
Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss
|
Oziębło, Dominika
|
|
|
|
3-4 |
p. 445-453
|
artikel
|
| 99 |
Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches
|
Marouf, Azmi
|
|
|
|
3-4 |
p. 759-783
|
artikel
|
| 100 |
Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss
|
Usami, Shin-ichi
|
|
|
|
3-4 |
p. 903-914
|
artikel
|
| 101 |
Variation in estimated recombination rates across human populations
|
Graffelman, Jan
|
|
2007
|
|
3-4 |
p. 301-310
|
artikel
|
| 102 |
Variation in the selenoprotein S gene locus is associated with coronary heart disease and ischemic stroke in two independent Finnish cohorts
|
Alanne, Mervi
|
|
2007
|
|
3-4 |
p. 355-365
|
artikel
|
| 103 |
Y chromosomes of prehistoric people along the Yangtze River
|
Li, Hui
|
|
2007
|
|
3-4 |
p. 383-388
|
artikel
|
| 104 |
Y chromosomes of prehistoric people along the Yangtze River
|
Li, Hui
|
|
|
|
3-4 |
p. 383-388
|
artikel
|
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