- Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C > G/p.Y27X)
[作者：Fullston, T; Brueton, L; Willis, T; Philip, S; MacPherson, L; Finnis, M; Gecz, J; Morton, J,期刊：European Journal of Human Genetics, 页码：157-162 , 文章类型： Article，,卷期：2010年18-2]
- Aristaless-related homeobox (ARX) gene mutations cause a diverse spectrum of disorders of the human brain, including lissencephaly, various forms of epilepsy and non-syndromic mental retardation. We have identified a nov...
- The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
[作者：van Bon, BWM; Koolen, DA; Brueton, L; McMullan, D; Lichtenbelt, KD; Ades, LC; Peters, G; Gibson, K; Novara, F; Pramparo, T; Dalla Bernardina, B; Zoccante, L; Balottin, U; Piazza, F; Pecile, V; Gasparini, P; Guerci, V; Kets, M; Pfundt, R; de Brouwer, AP; Veltman, JA; de Leeuw, N; Wilson, M; Antony, J; Reitano, S; Luciano, D; Fichera, M; Romano, C; Brunner, HG; Zuffardi, O; de Vries, BBA,期刊：European Journal of Human Genetics, 页码：163-170 , 文章类型： Article，,卷期：2010年18-2]
- Six submicroscopic deletions comprising chromosome band 2q23.1 in patients with severe mental retardation (MR), short stature, microcephaly and epilepsy have been reported, suggesting that haploinsufficiency of one or mo...
- Study of smell and reproductive organs in a mouse model for CHARGE syndrome
[作者：Bergman, JEH; Bosman, EA; van Ravenswaaij-Arts, CMA; Steel, KP,期刊：European Journal of Human Genetics, 页码：171-177 , 文章类型： Article，,卷期：2010年18-2]
- CHARGE syndrome is a multiple congenital anomaly syndrome characterised by Coloboma, Heart defects, Atresia of choanae, Retardation of growth and/or development, Genital hypoplasia, and Ear anomalies often associated wit...
- High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?
[作者：Bernardini, L; Alesi, V; Loddo, S; Novelli, A; Bottillo, I; Battaglia, A; Digilio, MC; Zampino, G; Ertel, A; Fortina, P; Surrey, S; Dallapiccola, B,期刊：European Journal of Human Genetics, 页码：178-185 , 文章类型： Article，,卷期：2010年18-2]
- We used Affymetrix 6.0 GeneChip SNP arrays to characterize copy number variations (CNVs) in a cohort of 70 patients previously characterized on lower-density oligonucleotide arrays affected by idiopathic mental retardati...
- Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis
[作者：Douma, KFL; Aaronson, NK; Vasen, HFA; Verhoef, S; Gundy, CM; Bleiker, EMA,期刊：European Journal of Human Genetics, 页码：186-193 , 文章类型： Article，,卷期：2010年18-2]
- Childhood DNA testing, prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) are available for familial adenomatous polyposis (FAP). However, the use of PND and PGD is controversial. The purpose of this st...
- Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses
[作者：Kaidonis, X; Liaw, WC; Roberts, AD; Ly, M; Anson, D; Byers, S,期刊：European Journal of Human Genetics, 页码：194-199 , 文章类型： Article，,卷期：2010年18-2]
- Neurological pathology is characteristic of the mucopolysaccharidoses (MPSs) that store heparan sulphate (HS) glycosaminoglycan ( gag) and has been proven to be refractory to systemic therapies. Substrate deprivation the...
- Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder
[作者：Vegt, R; Bertoli-Avella, AM; Tulen, JHM; de Graaf, B; Verkerk, AJMH; Vervoort, J; Twigt, CM; Maat-Kievit, A; van Tuijl, R; van der Lijn, M; Hengeveld, MW; Oostra, BA,期刊：European Journal of Human Genetics, 页码：206-211 , 文章类型： Article，,卷期：2010年18-2]
- Attention deficit hyperactivity disorder (ADHD) is a common neuropsychiatric disorder. Genetics has an important role in the aetiology of this disease. In this study, we describe the clinical findings in a Dutch family w...
- The CFTR frameshift mutation 3905insT and its effect at transcript and protein level
[作者：Sanz, J; von Kanel, T; Schneider, M; Steiner, B; Schaller, A; Gallati, S,期刊：European Journal of Human Genetics, 页码：212-217 , 文章类型： Article，,卷期：2010年18-2]
- Cystic fibrosis (CF) is one of the most common genetic diseases in the Caucasian population and is characterized by chronic obstructive pulmonary disease, exocrine pancreatic insufficiency, and elevation of sodium and ch...
- Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth
[作者：Malan, V; Chevallier, S; Soler, G; Coubes, C; Lacombe, D; Pasquier, L; Soulier, J; Morichon-Delvallez, N; Turleau, C; Munnich, A; Romana, S; Vekemans, M; Cormier-Daire, V; Colleaux, L,期刊：European Journal of Human Genetics, 页码：227-232 , 文章类型： Article，,卷期：2010年18-2]
- Overgrowth syndromes are a heterogeneous group of conditions including endocrine hormone disorders, several genetic syndromes and other disorders with unknown etiopathogenesis. Among genetic causes, chromosomal deletions...
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