- Clinical utility gene card for: Cystinuria
[作者：Eggermann, T; Zerres, K; Nunes, V; Font-Llitjos, M; Bisceglia, L; Chatzikyriakidou, A; dello Strologo, L; Pras, E; Creemers, J; Palacin, M,期刊：European Journal of Human Genetics, 页码：361-364 , 文章类型： Editorial Material，,卷期：2012年20-2]
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- Clinical utility gene card for: Mayer-Rokitansky-Kuster-Hauser syndrome
[作者：Morcel, K; Dallapiccola, B; Pasquier, L; Watrin, T; Bernardini, L; Guerrier, D,期刊：European Journal of Human Genetics, 页码：361-364 , 文章类型： Editorial Material，,卷期：2012年20-2]
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- Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms
[作者：Isrie, M; Hendriks, Y; Gielissen, N; Sistermans, EA; Willemsen, MH; Peeters, H; Vermeesch, JR; Kleefstra, T; Van Esch, H,期刊：European Journal of Human Genetics, 页码：131-133 , 文章类型： Letter，,卷期：2012年20-2]
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- Permanence of the information given during oncogenetic counseling to persons at familial risk of breast/ovarian and/or colon cancer
[作者：Kwiatkowski, F; Dessenne, P; Laquet, C; Petit, MF; Bignon, YJ,期刊：European Journal of Human Genetics, 页码：141-147 , 文章类型： Article，,卷期：2012年20-2]
- How long counselees retain the information given during their genetic consultation is of major importance. To address this issue, we conducted a survey among the 3500 families that have been offered genetic counseling at...
- Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome
[作者：Vieira, GH; Rodriguez, JD; Carmona-Mora, P; Cao, L; Gamba, BF; Carvalho, DR; Duarte, AD; Santos, SR; de Souza, DH; DuPont, BR; Walz, K; Moretti-Ferreira, D; Srivastava, AK,期刊：European Journal of Human Genetics, 页码：148-154 , 文章类型： Article，,卷期：2012年20-2]
- Smith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech delay, growth failure, brachycephaly, flat midface, short broad hands, and behavioral ...
- Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics
[作者：Hanemaaijer, NM; Sikkema-Raddatz, B; van der Vries, G; Dijkhuizen, T; Hordijk, R; van Essen, AJ; Veenstra-Knol, HE; Kerstjens-Frederikse, WS; Herkert, JC; Gerkes, EH; Leegte, LK; Kok, K; Sinke, RJ; van Ravenswaaij-Arts, CMA,期刊：European Journal of Human Genetics, 页码：161-165 , 文章类型： Article，,卷期：2012年20-2]
- The correct interpretation of copy number gains in patients with developmental delay and multiple congenital anomalies is hampered by the large number of copy number variations (CNVs) encountered in healthy individuals. ...
- Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies
[作者：Nowakowska, BA; de Leeuw, N; Ruivenkamp, CAL; Sikkema-Raddatz, B; Crolla, JA; Thoelen, R; Koopmans, M; den Hollander, N; van Haeringen, A; van der Kevie-Kersemaekers, AM; Pfundt, R; Mieloo, H; van Essen, T; de Vries, BBA; Green, A; Reardon, W; Fryns, JP; Vermeesch, JR,期刊：European Journal of Human Genetics, 页码：166-170 , 文章类型： Article，,卷期：2012年20-2]
- In several laboratories, genome-wide array analysis has been implemented as the first tier diagnostic test for the identification of copy number changes in patients with mental retardation and/or congenital anomalies. Th...
- Identification and functional analysis of novel THAP1 mutations
[作者：Lohmann, K; Uflacker, N; Erogullari, A; Lohnau, T; Winkler, S; Dendorfer, A; Schneider, SA; Osmanovic, A; Svetel, M; Ferbert, A; Zittel, S; Kuhn, AA; Schmidt, A; Altenmuller, E; Munchau, A; Kamm, C; Wittstock, M; Kupsch, A; Moro, E; Volkmann, J; Kostic, V; Kaiser, FJ; Klein, C; Bruggemann, N,期刊：European Journal of Human Genetics, 页码：171-175 , 文章类型： Article，,卷期：2012年20-2]
- Mutations in THAP1 have been associated with dystonia 6 (DYT6). THAP1 encodes a transcription factor that represses the expression of DYT1. To further evaluate the mutational spectrum of THAP1 and its associated phenotyp...
- Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44
[作者：Nagamani, SCS; Erez, A; Bay, C; Pettigrew, A; Lalani, SR; Herman, K; Graham, BH; Nowaczyk, MJM; Proud, M; Craigen, WJ; Hopkins, B; Kozel, B; Plunkett, K; Hixson, P; Stankiewicz, P; Patel, A; Cheung, SW,期刊：European Journal of Human Genetics, 页码：176-179 , 文章类型： Article，,卷期：2012年20-2]
- Submicroscopic deletions involving chromosome 1q43-q44 result in cognitive impairment, microcephaly, growth restriction, dysmorphic features, and variable involvement of other organ systems. A consistently observed featu...
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