- Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog
[作者：Byrnes, AM; Racacho, L; Grimsey, A; Hudgins, L; Kwan, AC; Sangalli, M; Kidd, A; Yaron, Y; Lau, YL; Nikkel, SM; Bulman, DE,期刊：European Journal of Human Genetics, 页码：1112-1120 , 文章类型： Article，,卷期：2009年17-9]
- Mutations in the gene Indian Hedgehog (IHH) that cause Brachydactyly A-1 (BDA1) have been restricted to a specific region of the N-terminal active fragment of Indian Hedgehog involving codons 95, 100, 131, and 154. We de...
- Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene
[作者：Stheneur, C; Collod-Beroud, G; Faivre, L; Buyck, JF; Gouya, L; Le Parc, JM; Moura, B; Muti, C; Grandchamp, B; Sultan, G; Claustres, M; Aegerter, P; Chevallier, B; Jondeau, G; Boileau, C,期刊：European Journal of Human Genetics, 页码：1121-1128 , 文章类型： Article，,卷期：2009年17-9]
- Mutations identified in the fibrillin-1 (FBN1) gene have been associated with Marfan syndrome (MFS). Molecular analysis of the gene is classically performed in probands with MFS to offer diagnosis for at-risk relatives a...
- Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies
[作者：Mandich, P; Fossa, P; Capponi, S; Geroldi, A; Acquaviva, M; Gulli, R; Ciotti, P; Manganelli, F; Grandis, M; Bellone, E,期刊：European Journal of Human Genetics, 页码：1129-1134 , 文章类型： Article，,卷期：2009年17-9]
- Mutations in the myelin protein zero (MPZ) gene have been associated with different Charcot-Marie-Tooth disease (CMT) phenotypes, including classical demyelinating CMT1B and the axonal form of the disease (CMT2). The MPZ...
- 16p subtelomeric duplication: a clinically recognizable syndrome
[作者：Digilio, MC; Bernardini, L; Capalbo, A; Capolino, R; Gagliardi, MG; Marino, B; Novelli, A; Dallapiccola, B,期刊：European Journal of Human Genetics, 页码：1135-1140 , 文章类型： Article，,卷期：2009年17-9]
- We report on two patients with duplication of the subterminal region of chromosome 16p (dup16p) recognized by fluorescent in situ hybridization (FISH) telomere analysis, presenting with closely overlapping facial feature...
- Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis
[作者：Mari, F; Hermanns, P; Giovannucci-Uzielli, ML; Galluzzi, F; Scott, D; Lee, B; Renieri, A; Unger, S; Zabel, B; Superti-Furga, A,期刊：European Journal of Human Genetics, 页码：1141-1147 , 文章类型： Article，,卷期：2009年17-9]
- In their studies on the molecular basis of osteopoikilosis, Menten et al have identified three individuals with microdeletions on chromosome 12q14.4, which removed several genes including LEMD3, the osteopoikilosis gene....
- Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?
[作者：Bauer, R; Hudson, J; Muller, HD; Sommer, C; Dekomien, G; Bourke, J; Routledge, D; Bushby, K; Klepper, J; Straub, V,期刊：European Journal of Human Genetics, 页码：1148-1153 , 文章类型： Article，,卷期：2009年17-9]
- In this study we clinically and genetically characterize a consanguineous family with a homozygous novel missense mutation in the delta-sarcoglycan gene and a second delta-sarcoglycan mutation that has previously been re...
- Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations
[作者：Miltenberger-Miltenyi, G; Schwarzbraun, T; Loscher, WN; Wanschitz, J; Windpassinger, C; Duba, HC; Seidl, R; Albrecht, G; Weirich-Schwaiger, H; Zoller, H; Utermann, G; Auer-Grumbach, M; Janecke, AR,期刊：European Journal of Human Genetics, 页码：1154-1159 , 文章类型： Article，,卷期：2009年17-9]
- Duplication within the chromosome 17p11.2 (CMT1Adup), peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) and gap junction beta 1-protein (GJB1) gene mutations are frequent causes of the Charcot-Marie-Tooth d...
- Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G > A (p.S384N) as to be a polymorphism
[作者：Zanetti, A; Ferraresi, E; Picci, L; Filocamo, M; Parini, R; Rosano, C; Tomanin, R; Scarpa, M,期刊：European Journal of Human Genetics, 页码：1160-1164 , 文章类型： Article，,卷期：2009年17-9]
- Maroteaux-Lamy syndrome is an autosomal-recessive disorder due to the deficit of the lysosomal enzyme, arylsulfatase B (ARSB). Among the numerous genomic lesions reported till now, the sequence variant, c.1151G>A (p.S384...
- Three independent mutations in the TSC2 gene in a family with tuberous sclerosis
[作者：Le Caignec, C; Kwiatkowski, DJ; Kury, S; Hardouin, JB; Melki, J; David, A,期刊：European Journal of Human Genetics, 页码：1165-1170 , 文章类型： Article，,卷期：2009年17-9]
- Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder characterized by hamartomas and hamartias in multiple organs. TSC is caused by a wide spectrum of mutations within the TSC1 and TSC2 genes. Here, we ...
- Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)
[作者：Strug, LJ; Clarke, T; Chiang, T; Chien, MC; Baskurt, Z; Li, WL; Dorfman, R; Bali, B; Wirrell, E; Kugler, SL; Mandelbaum, DE; Wolf, SM; McGoldrick, P; Hardison, H; Novotny, EJ; Ju, JY; Greenberg, DA; Russo, JJ; Pal, DK,期刊：European Journal of Human Genetics, 页码：1171-1181 , 文章类型： Article，,卷期：2009年17-9]
- Rolandic epilepsy (RE) is the most common human epilepsy, affecting children between 3 and 12 years of age, boys more often than girls (3: 2). Focal sharp waves in the centrotemporal area define the electroencephalograph...
- Assessment of transmission distortion on chromosome 6p in healthy individuals using tagSNPs
[作者：Santos, PSC; Hohne, J; Schlattmann, P; Konig, IR; Ziegler, A; Uchanska-Ziegler, B; Ziegler, A,期刊：European Journal of Human Genetics, 页码：1182-1189 , 文章类型： Article，,卷期：2009年17-9]
- The best-documented example for transmission distortion (TD) to normal offspring are the t haplotypes on mouse chromosome 17. In healthy humans, TD has been described for whole chromosomes and for particular loci, but mu...
- Multilocus analysis of age-related macular degeneration
[作者：Bergeron-Sawitzke, J; Gold, B; Olsh, A; Schlotterbeck, S; Lemon, K; Visvanathan, K; Allikmets, R; Dean, M,期刊：European Journal of Human Genetics, 页码：1190-1199 , 文章类型： Article，,卷期：2009年17-9]
- Age-related macular degeneration (AMD) is a late onset vision disorder. Recent studies demonstrate that alterations in complement cascade genes are associated with AMD. Of the three identified complement loci, variants i...
- Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews
[作者：Spiegel, R; Shaag, A; Mandel, H; Reich, D; Penyakov, M; Hujeirat, Y; Saada, A; Elpeleg, O; Shalev, SA,期刊：European Journal of Human Genetics, 页码：1200-1203 , 文章类型： Article，,卷期：2009年17-9]
- NADH:ubiquinone oxidoreductase (complex I; EC 1.6.5.3), the largest respiratory chain complex is composed of 45 proteins and is located at the mitochondrial inner membrane. Defects in complex I are associated with energy...
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