- Renal coloboma syndrome
[作者：Schimmenti, LA,期刊：European Journal of Human Genetics, 页码：1207-1212 , 文章类型： Article，,卷期：2011年19-12]
- Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition characterized by optic nerve dysplasia and renal hypodysplasia. The eye anomalies consist of a wide and sometimes excav...
- Motivators for participation in a whole-genome sequencing study: implications for translational genomics research
[作者：Facio, FM; Brooks, S; Loewenstein, J; Green, S; Biesecker, LG; Biesecker, BB,期刊：European Journal of Human Genetics, 页码：1213-1217 , 文章类型： Article，,卷期：2011年19-12]
- The promise of personalized medicine depends on the ability to integrate genetic sequencing information into disease risk assessment for individuals. As genomic sequencing technology enters the realm of clinical care, it...
- Identification of a Gypsy SHOX mutation (p.A170P) in Leri-Weill dyschondrosteosis and Langer mesomelic dysplasia
[作者：Barca-Tierno, V; Aza-Carmona, M; Barroso, E; Heine-Suner, D; Azmanov, D; Rosell, J; Ezquieta, B; Montane, LS; Vendrell, T; Cruz, J; Santos, F; Rodriguez, JI; Pozo, J; Argente, J; Kalaydjieva, L; Gracia, R; Campos-Barros, A; Benito-Sanz, S; Heath, KE,期刊：European Journal of Human Genetics, 页码：1218-1225 , 文章类型： Article，,卷期：2011年19-12]
- We report the clinical and molecular characteristics of 12 Spanish families with multiple members affected with Leri-Weill dyschondrosteosis (LWD) or Langer mesomelic dysplasia (LMD), who present the SHOX (short stature ...
- Maternally inherited mitochondrial DNA disease in consanguineous families
[作者：Alston, CL; He, LP; Morris, AA; Hughes, I; de Goede, C; Turnbull, DM; McFarland, R; Taylor, RW,期刊：European Journal of Human Genetics, 页码：1226-1229 , 文章类型： Article，,卷期：2011年19-12]
- Mitochondrial respiratory chain disease represents one of the most common inborn errors of metabolism and is genetically heterogeneous, with biochemical defects arising from mutations in the mitochondrial genome (mtDNA) ...
- Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow
[作者：Srebniak, M; Boter, M; Oudesluijs, G; Joosten, M; Govaerts, L; Van Opstal, D; Galjaard, RJH,期刊：European Journal of Human Genetics, 页码：1230-1237 , 文章类型： Article，,卷期：2011年19-12]
- We report on the validation and implementation of the HumanCytoSNP-12 array (Illumina) (HCS) in prenatal diagnosis. In total, 64 samples were used to validate the Illumina platform (20 with a known (sub) microscopic chro...
- Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function
[作者：Paciorkowski, AR; Thio, LL; Rosenfeld, JA; Gajecka, M; Gurnett, CA; Kulkarni, S; Chung, WK; Marsh, ED; Gentile, M; Reggin, JD; Wheless, JW; Balasubramanian, S; Kumar, R; Christian, SL; Marini, C; Guerrini, R; Maltsev, N; Shaffer, LG; Dobyns, WB,期刊：European Journal of Human Genetics, 页码：1238-1245 , 文章类型： Article，,卷期：2011年19-12]
- Infantile spasms (ISS) are an epilepsy disorder frequently associated with severe developmental outcome and have diverse genetic etiologies. We ascertained 11 subjects with ISS and novel copy number variants (CNVs) and c...
- iPS cells to model CDKL5-related disorders
[作者：Amenduni, M; De Filippis, R; Cheung, AYL; Disciglio, V; Epistolato, MC; Ariani, F; Mari, F; Mencarelli, MA; Hayek, Y; Renieri, A; Ellis, J; Meloni, I,期刊：European Journal of Human Genetics, 页码：1246-1255 , 文章类型： Article，,卷期：2011年19-12]
- Rett syndrome (RTT) is a progressive neurologic disorder representing one of the most common causes of mental retardation in females. To date mutations in three genes have been associated with this condition. Classic RTT...
- Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families
[作者：Hebrard, M; Manes, G; Bocquet, B; Meunier, I; Coustes-Chazalette, D; Herald, E; Senechal, A; Bolland-Auge, A; Zelenika, D; Hamel, CP,期刊：European Journal of Human Genetics, 页码：1256-1263 , 文章类型： Article，,卷期：2011年19-12]
- Among inherited retinal dystrophies, autosomal recessive retinitis pigmentosa (arRP) is the most genetically heterogenous condition with 32 genes currently known that account for similar to 60% of patients. Molecular dia...
- 2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders
[作者：Liu, XD; Malenfant, P; Reesor, C; Lee, A; Hudson, ML; Harvard, C; Qiao, Y; Persico, AM; Cohen, IL; Chudley, AE; Forster-Gibson, C; Rajcan-Separovic, E; Lewis, MES; Holden, JJA,期刊：European Journal of Human Genetics, 页码：1264-1270 , 文章类型： Article，,卷期：2011年19-12]
- Reports of unrelated individuals with autism spectrum disorder (ASD) and similar clinical features having overlapping de novo interstitial deletions at 2p15-p16.1 suggest that this region harbors a gene(s) important to t...
- Characterization of autosomal copy-number variation in African Americans: the HyperGEN Study
[作者：Wineinger, NE; Pajewski, NM; Kennedy, RE; Wojczynski, MK; Vaughan, LK; Hunt, SC; Gu, CC; Rao, DC; Lorier, R; Broeckel, U; Arnett, DK; Tiwari, HK,期刊：European Journal of Human Genetics, 页码：1271-1275 , 文章类型： Article，,卷期：2011年19-12]
- African Americans are a genetically diverse population with a high burden of many, common heritable diseases. However, our understanding of genetic variation in African Americans is substandard because of a lack of publi...
- Initial interrogation, confirmation and fine mapping of modifying genes: STAT3, IL1B and IFNGR1 determine cystic fibrosis disease manifestation
[作者：Labenski, H; Hedtfeld, S; Becker, T; Tummler, B; Stanke, F,期刊：European Journal of Human Genetics, 页码：1281-1288 , 文章类型： Article，,卷期：2011年19-12]
- We have used a stepwise approach consisting of initial interrogation, confirmation and fine mapping to analyze STAT3, IL1B and IFNGR1 as modifiers of cystic fibrosis disease building upon the data and sample collection o...
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