- Nephronophthisis
[作者：Simms, RJ; Eley, L; Sayer, JA,期刊：European Journal of Human Genetics, 页码：406-416 , 文章类型： Article，,卷期：2009年17-4]
- Nephronophthisis (NPHP) is an autosomal recessive kidney disorder characterized by chronic tubulointerstitial nephritis and leading to end-stage renal failure. NPHP as a renal entity is often part of a multisystem disord...
- Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases
[作者：Stuhrmann, M; Brakensiek, K; Argyriou, L; Boehm, I; Hinderhofer, K; Bauer, I; Rhode, BM; Maelzer, M; Zuehlke, C; Krueger, G; Schmidtke, J,期刊：European Journal of Human Genetics, 页码：417-419 , 文章类型： Letter，,卷期：2009年17-4]
-
- Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome
[作者：Neumann, TE; Allanson, J; Kavamura, I; Kerr, B; Neri, G; Noonan, J; Cordeddu, V; Gibson, K; Tzschach, A; Kruger, G; Hoeltzenbein, M; Goecke, TO; Kehl, HG; Albrecht, B; Luczak, K; Sasiadek, MM; Musante, L; Laurie, R; Peters, H; Tartaglia, M; Zenker, M; Kalscheuer, V,期刊：European Journal of Human Genetics, 页码：420-425 , 文章类型： Article，,卷期：2009年17-4]
- Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes encoding various components of the RAS-MAPK signaling cascade. NS is associated with mutati...
- Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion
[作者：Bonaglia, MC; Giorda, R; Beri, S; Bigoni, S; Sensi, A; Baroncini, A; Capucci, A; De Agostini, C; Gwilliam, R; Deloukas, P; Dunham, I; Zuffardi, O,期刊：European Journal of Human Genetics, 页码：426-433 , 文章类型： Article，,卷期：2009年17-4]
- Although 22q terminal deletions are well documented, very few patients with mosaicism have been reported. We describe two new cases with mosaic 22q13.2-qter deletion, detected by karyotype analysis, showing the neurologi...
- Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance
[作者：Clayton-Smith, J; Walters, S; Hobson, E; Burkitt-Wright, E; Smith, R; Toutain, A; Amiel, J; Lyonnet, S; Mansour, S; Fitzpatrick, D; Ciccone, R; Ricca, I; Zuffardi, O; Donnai, D,期刊：European Journal of Human Genetics, 页码：434-443 , 文章类型： Article，,卷期：2009年17-4]
- Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability and recurrent pneumonia. We identif...
- Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
[作者：Lugtenberg, D; Kleefstra, T; Oudakker, AR; Nillesen, WM; Yntema, HG; Tzschach, A; Raynaud, M; Rating, D; Journel, H; Chelly, J; Goizet, C; Lacombe, D; Pedespan, JM; Echenne, B; Tariverdian, G; O'Rourke, D; King, MD; Green, A; van Kogelenberg, M; Van Esch, H; Gecz, J; Hamel, BCJ; van Bokhoven, H; de Brouwer, APM,期刊：European Journal of Human Genetics, 页码：444-453 , 文章类型： Article，,卷期：2009年17-4]
- Duplications in Xq28 involving MECP2 have been described in patients with severe mental retardation, infantile hypotonia, progressive spasticity, and recurrent infections. However, it is not yet clear to what extent thes...
- Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
[作者：Lyle, R; Bena, F; Gagos, S; Gehrig, C; Lopez, G; Schinzel, A; Lespinasse, J; Bottani, A; Dahoun, S; Taine, L; Doco-Fenzy, M; Cornillet-Lefebvre, P; Pelet, A; Lyonnet, S; Toutain, A; Colleaux, L; Horst, J; Kennerknecht, I; Wakamatsu, N; Descartes, M; Franklin, JC; Florentin-Arar, L; Kitsiou, S; Yahya-Graison, EA; Costantine, M; Sinet, PM; Delabar, JM; Antonarakis, SE,期刊：European Journal of Human Genetics, 页码：454-466 , 文章类型： Article，,卷期：2009年17-4]
- Down syndrome (DS) is one of the most frequent congenital birth defects, and the most common genetic cause of mental retardation. In most cases, DS results from the presence of an extra copy of chromosome 21. DS has a co...
- Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family
[作者：Hmani-Aifa, M; Benzina, Z; Zulfiqar, F; Dhouib, H; Shahzadi, A; Ghorbel, A; Rebai, A; Soderkvist, P; Riazuddin, S; Kimberling, WJ; Ayadi, H,期刊：European Journal of Human Genetics, 页码：474-482 , 文章类型： Article，,卷期：2009年17-4]
- Autosomal recessive retinitis pigmentosa (ARRP) is a genetically heterogeneous disorder. ARRP could be associated with extraocular manifestations that define specific syndromes such as Usher syndrome (USH) characterized ...
- Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11)
[作者：Griseri, P; Vos, Y; Giorda, R; Gimelli, S; Beri, S; Santamaria, G; Mognato, G; Hofstra, RM; Gimelli, G; Ceccherini, I,期刊：European Journal of Human Genetics, 页码：483-490 , 文章类型： Article，,卷期：2009年17-4]
- Hirschsprung's disease (HSCR), a congenital complex disorder of intestinal innervation, is often associated with other inherited syndromes. Identifying genes involved in syndromic HSCR cases will not only help understand...
- Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation
[作者：Faivre, L; Collod-Beroud, G; Callewaert, B; Child, A; Binquet, C; Gautier, E; Loeys, BL; Arbustini, E; Mayer, K; Arslan-Kirchner, M; Stheneur, C; Kiotsekoglou, A; Comeglio, P; Marziliano, N; Wolf, JE; Bouchot, O; Khau-Van-Kien, P; Beroud, C; Claustres, M; Bonithon-Kopp, C; Robinson, PN; Ades, L; De Backer, J; Coucke, P; Francke, U; De Paepe, A; Jondeau, G; Boileau, C,期刊：European Journal of Human Genetics, 页码：491-501 , 文章类型： Article，,卷期：2009年17-4]
- Mutations in the FBN1 gene cause Marfan syndrome (MFS) and a wide range of overlapping phenotypes. The severe end of the spectrum is represented by neonatal MFS, the vast majority of probands carrying a mutation within e...
- Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss
[作者：Mani, RS; Ganapathy, A; Jalvi, R; Srisailapathy, CRS; Malhotra, V; Chadha, S; Agarwal, A; Ramesh, A; Rangasayee, RR; Anand, A,期刊：European Journal of Human Genetics, 页码：502-509 , 文章类型： Article，,卷期：2009年17-4]
- In a study of 530 individuals with non-syndromic, sensorineural hearing loss, we identified 18 mutations at connexin 26 (Cx26), four of which are novel (-23G>T, I33T, 377_383dupTCCGCAT, W172R) and the remaining 14 (ivs1+...
- Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A > G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda
[作者：Xiong, F; Gao, JJ; Li, J; Liu, Y; Feng, GY; Fang, WL; Chang, HF; Xie, J; Zheng, HT; Li, TY; He, L,期刊：European Journal of Human Genetics, 页码：510-516 , 文章类型： Article，,卷期：2009年17-4]
- X-linked spondyloepiphyseal dysplasia tarda can be caused bymutations in the SEDL gene. This study describes an interesting novel mutation (IVS4+1A>G) located exactly at the rare noncanonical AT-AC consensus splicing don...
- Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene
[作者：Hilgert, N; Huentelman, MJ; Thorburn, AQ; Fransen, E; Dieltjens, N; Mueller-Malesinska, M; Pollak, A; Skorka, A; Waligora, J; Ploski, R; Castorina, P; Primignani, P; Ambrosetti, U; Murgia, A; Orzan, E; Pandya, A; Arnos, K; Norris, V; Seeman, P; Janousek, P; Feldmann, D; Marlin, S; Denoyelle, F; Nishimura, CJ; Janecke, A; Nekahm-Heis, D; Martini, A; Mennucci, E; Toth, T; Sziklai, I; del Castillo, I; Moreno, F; Petersen, MB; Iliadou, V; Tekin, M; Incesulu, A; Nowakowska, E; Bal, J; de Heyning, PV; Roux, AF; Blanchet, C; Goizet, C; Lancelot, G; Fialho, G; Caria, H; Liu, XZ; Xiaomei, OY; Govaerts, P; Gronskov, K; Hostmark, K; Frei, K; Dhooge, I; Vlaeminck, S; Kunstmann, E; Van Laer, L; Smith, RJH; Van Camp, G,期刊：European Journal of Human Genetics, 页码：517-524 , 文章类型： Article，,卷期：2009年17-4]
- Hereditary hearing loss (HL) is a very heterogeneous trait, with 46 gene identifications for non-syndromic HL. Mutations in GJB2 cause up to half of all cases of severe-to-profound congenital autosomal recessive non-synd...
- Promoter polymorphism of matrilin-1 gene predisposes to adolescent idiopathic scoliosis in a Chinese population
[作者：Chen, ZJ; Tang, NLS; Cao, XB; Qiao, D; Yi, L; Cheng, JCY; Qiu, Y,期刊：European Journal of Human Genetics, 页码：525-532 , 文章类型： Article，,卷期：2009年17-4]
- Adolescent idiopathic scoliosis (AIS) is widely recognized as a complex disorder with a strong genetic predisposition. In previous studies, a number of extracellular matrixes (ECMs) related genes have been duplicated as ...
|