- Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14)
[作者：Pinto, YM; Wilde, AAAM; van Rijsingen, IAW; Christiaans, I; Deprez, RHL; Elliott, PM,期刊：European Journal of Human Genetics, 页码：2294-2305 , 文章类型： Editorial Material，,卷期：2011年19-8]
-
- Clinical utility gene card for: Gorlin syndrome
[作者：Lo Muzio, L; Pastorino, L; Levanat, S; Musani, V; Situm, M; Scarra, GB,期刊：European Journal of Human Genetics, 页码：2294-2305 , 文章类型： Editorial Material，,卷期：2011年19-8]
-
- Clinical and functional data implicate the Arg(151)Ser variant of MSX1 in familial hypodontia
[作者：Kamamoto, M; Machida, J; Yamaguchi, S; Kimura, M; Ono, T; Jezewski, PA; Higashi, Y; Nakayama, A; Shimozato, K; Tokita, Y,期刊：European Journal of Human Genetics, 页码：844-850 , 文章类型： Article，,卷期：2011年19-8]
- Multiple previous reports confirm that several missense alleles of MSX1 exhibit Mendelian inheritance of an oligodontia phenotype (agenesis of more than six secondary teeth besides third molars). However, the extent to w...
- The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly
[作者：Chograni, M; Rejeb, I; Ben Jemaa, L; Chaabouni, M; Bouhamed, HC,期刊：European Journal of Human Genetics, 页码：851-856 , 文章类型： Article，,卷期：2011年19-8]
- Nance-Horan Syndrome (NHS) or X-linked cataract-dental syndrome is a disease of unknown gene action mechanism, characterized by congenital cataract, dental anomalies, dysmorphic features and, in some cases, mental retard...
- Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes
[作者：Boyle, J; Hawkins, M; Barton, DE; Meaney, K; Guitart, M; O'Grady, A; Tobi, S; Ramsden, SC; Elles, R; Gray, E; Metcalfe, P; Hawkins, JR,期刊：European Journal of Human Genetics, 页码：857-864 , 文章类型： Article，,卷期：2011年19-8]
- Prader Willi and Angelman syndromes are clinically distinct genetic disorders both mapping to chromosome region 15q11-q13, which are caused by a loss of function of paternally or maternally inherited genes in the region,...
- New disease gene location and high genetic heterogeneity in idiopathic scoliosis
[作者：Edery, P; Margaritte-Jeannin, P; Biot, B; Labalme, A; Bernard, JC; Chastang, J; Kassai, B; Plais, MH; Moldovan, F; Clerget-Darpoux, F,期刊：European Journal of Human Genetics, 页码：865-869 , 文章类型： Article，,卷期：2011年19-8]
- Idiopathic scoliosis (IS) is a spine disorder of unknown origin with 1.5-3% prevalence in the general population. Besides the large multifactorial-form sample of IS, there is a good evidence for the existence of a monoge...
- Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation
[作者：Jongmans, MCJ; van der Burgt, I; Hoogerbrugge, PM; Noordam, K; Yntema, HG; Nillesen, WM; Kuiper, RP; Ligtenberg, MJL; van Kessel, AG; van Krieken, JHJM; Kiemeney, LALM; Hoogerbrugge, N,期刊：European Journal of Human Genetics, 页码：870-874 , 文章类型： Article，,卷期：2011年19-8]
- Noonan syndrome (NS) is characterized by short stature, facial dysmorphisms and congenital heart defects. PTPN11 mutations are the most common cause of NS. Patients with NS have a predisposition for leukemia and certain ...
- Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)
[作者：Laine, CM; Chung, BD; Susic, M; Prescott, T; Semler, O; Fiskerstrand, T; D'Eufemia, P; Castori, M; Pekkinen, M; Sochett, E; Cole, WG; Netzer, C; Makitie, O,期刊：European Journal of Human Genetics, 页码：875-881 , 文章类型： Article，,卷期：2011年19-8]
- Osteoporosis-pseudoglioma sydrome (OPPG) is an autosomal recessive disorder with early-onset severe osteoporosis and blindness, caused by biallelic loss-of-function mutations in the low-density lipoprotein receptor-relat...
- The genetic component of human longevity: analysis of the survival advantage of parents and siblings of Italian nonagenarians
[作者：Montesanto, A; Latorre, V; Giordano, M; Martino, C; Domma, F; Passarino, G,期刊：European Journal of Human Genetics, 页码：882-886 , 文章类型： Article，,卷期：2011年19-8]
- Many epidemiological studies have shown that parents, siblings and offspring of long-lived subjects have a significant survival advantage when compared with the general population. However, how much of this reported adva...
- Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers
[作者：Houlle, S; Charbonnier, F; Houivet, E; Tinat, J; Buisine, MP; Caron, O; Benichou, J; Baert-Desurmont, S; Frebourg, T,期刊：European Journal of Human Genetics, 页码：887-892 , 文章类型： Article，,卷期：2011年19-8]
- Several studies have reported that, in Lynch syndrome resulting from mutations of the mismatch repair (MMR) genes, a CA repeat <= 17 within the IGF1 promoter, SNPs within the xenobiotic metabolizing enzyme gene CYP1A1 an...
|