- Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice
[作者:Bredenoord, A; Dondorp, W; Pennings, G; de Die-Smulders, C; Smeets, B; de Wert, G,期刊:European Journal of Human Genetics, 页码:1550-1559 , 文章类型: Article,,卷期:2009年17-12]
- Although morally acceptable in theory, preimplantation genetic diagnosis (PGD) for mitochondrial DNA (mtDNA) disorders raises several ethical questions in clinical practice. This paper discusses the major conditions for ...
- CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis
[作者:Van Dijk, FS; Nesbitt, IM; Nikkels, PGJ; Dalton, A; Bongers, EMHF; de Kamp, JMV; Hilhorst-Hofstee, Y; Den Hollander, NS; Lachmeijer, AMA; Marcelis, CL; Tan-Sindhunata, GMB; van Rijn, RR; Meijers-Heijboer, H; Cobben, JM; Pals, G,期刊:European Journal of Human Genetics, 页码:1560-1569 , 文章类型: Article,,卷期:2009年17-12]
- Autosomal recessive lethal and severe osteogenesis imperfecta (OI) is caused by the deficiency of cartilage-associated protein (CRTAP) and prolyl-3-hydroxylase 1 (P3H1) because of CRTAP and LEPRE1 mutations. We analyzed ...
- HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing
[作者:Seifert, W; Beninde, J; Hoffmann, K; Lindner, TH; Bassir, C; Aksu, F; Hubner, C; Verbeek, NE; Mundlos, S; Horn, D,期刊:European Journal of Human Genetics, 页码:1570-1576 , 文章类型: Article,,卷期:2009年17-12]
- Cranio-osteoarthropathy, clinically classified as a variant of primary hypertrophic osteoarthropathy, is a very rare autosomal-recessive condition characterized by delayed closure of the cranial sutures and fontanels, di...
- Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature
[作者:Jacob, FD; Ramaswamy, V; Andersen, J; Bolduc, FV,期刊:European Journal of Human Genetics, 页码:1577-1581 , 文章类型: Article,,卷期:2009年17-12]
- Rett syndrome is a severe neurodegenerative disorder characterized by acquired microcephaly, communication dysfunction, psychomotor regression, seizures and stereotypical hand movements. Mutations in methyl CpG binding p...
- DNA methylation errors at imprinted loci after assisted conception originate in the parental sperm
[作者:Kobayashi, H; Hiura, H; John, RM; Sato, A; Otsu, E; Kobayashi, N; Suzuki, R; Suzuki, F; Hayashi, C; Utsunomiya, T; Yaegashi, N; Arima, T,期刊:European Journal of Human Genetics, 页码:1582-1591 , 文章类型: Article,,卷期:2009年17-12]
- There is an increased prevalence of imprinting disorders, such as Beckwith-Wiedemann syndrome, associated with human assisted reproductive technologies (ART). Work on animal models suggests that in vitro culture may be t...
- A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients
[作者:Engels, H; Wohlleber, E; Zink, A; Hoyer, J; Ludwig, KU; Brockschmidt, FF; Wieczorek, D; Moog, U; Hellmann-Mersch, B; Weber, RG; Willatt, L; Kreiss-Nachtsheim, M; Firth, HV; Rauch, A,期刊:European Journal of Human Genetics, 页码:1592-1599 , 文章类型: Article,,卷期:2009年17-12]
- Molecular karyotyping is being increasingly applied to delineate novel disease causing microaberrations and related syndromes in patients with mental retardation of unknown aetiology. We report on three unrelated patient...
- WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome
[作者:Nawaz, S; Klar, J; Wajid, M; Aslam, M; Tariq, M; Schuster, J; Baig, SM; Dahl, N,期刊:European Journal of Human Genetics, 页码:1600-1605 , 文章类型: Article,,卷期:2009年17-12]
- Wnt signalling is one of a few pathways that are crucial for controlling genetic programs during embryonic development as well as in adult tissues. WNT10A is expressed in the skin and epidermis and it has shown to be cri...
- A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy - Russe (HMSNR)
[作者:Hantke, J; Chandler, D; King, R; Wanders, RJA; Angelicheva, D; Tournev, I; McNamara, E; Kwa, M; Guergueltcheva, V; Kaneva, R; Baas, F; Kalaydjieva, L,期刊:European Journal of Human Genetics, 页码:1606-1614 , 文章类型: Article,,卷期:2009年17-12]
- Hereditary Motor and Sensory Neuropathy - Russe (HMSNR) is a severe autosomal recessive disorder, identified in the Gypsy population. Our previous studies mapped the gene to 10q22-q23 and refined the gene region to simil...
- Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level
[作者:Klooster, R; Straasheijm, K; Shah, B; Sowden, J; Frants, R; Thornton, C; Tawil, R; van der Maarel, S,期刊:European Journal of Human Genetics, 页码:1615-1624 , 文章类型: Article,,卷期:2009年17-12]
- In facioscapulohumeral muscular dystrophy (FSHD) the majority of patients carry a D4Z4 macrosatellite repeat contraction in the subtelomere of chromosome 4q. Several disease mechanisms have been proposed to explain how r...
- Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells
[作者:Bliek, J; Alders, M; Maas, SM; Oostra, RJ; Mackay, DM; van der Lip, K; Callaway, JL; Brooks, A; Van 'T Padje, S; Westerveld, A; Leschot, NJ; Mannens, MMAM,期刊:European Journal of Human Genetics, 页码:1625-1634 , 文章类型: Article,,卷期:2009年17-12]
- The Beckwith-Wiedemann syndrome (BWS) is a growth disorder for which an increased frequency of monozygotic (MZ) twinning has been reported. With few exceptions, these twins are discordant for BWS and for females. Here, w...
- Comparing population structure as inferred from genealogical versus genetic information
[作者:Colonna, V; Nutile, T; Ferrucci, RR; Fardella, G; Aversano, M; Barbujani, G; Ciullo, M,期刊:European Journal of Human Genetics, 页码:1635-1641 , 文章类型: Article,,卷期:2009年17-12]
- Algorithms for inferring population structure from genetic data (ie, population assignment methods) have shown to effectively recognize genetic clusters in human populations. However, their performance in identifying gro...
- A novel SRY missense mutation affecting nuclear import in a 46, XY female patient with bilateral gonadoblastoma
[作者:Hersmus, R; de Leeuw, BHCGM; Stoop, H; Bernard, P; van Doorn, HC; Bruggenwirth, HT; Drop, SLS; Oosterhuis, JW; Harley, VR; Looijenga, LHJ,期刊:European Journal of Human Genetics, 页码:1642-1649 , 文章类型: Article,,卷期:2009年17-12]
- Patients with disorders of sex development (DSD), especially those with gonadal dysgenesis and hypovirilization, are at risk of developing the so-called type II germ cell tumors (GCTs). Both carcinoma in situ and gonadob...
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