Works matching IS 10184813 AND DT 2012 AND VI 20 AND IP 2

Results: 30

Identification and functional analysis of novel THAP1 mutations.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 171, doi. 10.1038/ejhg.2011.159
By:
- Lohmann, Katja;
- Uflacker, Nils;
- Erogullari, Alev;
- Lohnau, Thora;
- Winkler, Susen;
- Dendorfer, Andreas;
- Schneider, Susanne A;
- Osmanovic, Alma;
- Svetel, Marina;
- Ferbert, Andreas;
- Zittel, Simone;
- Kühn, Andrea A;
- Schmidt, Alexander;
- Altenmüller, Eckart;
- Münchau, Alexander;
- Kamm, Christoph;
- Wittstock, Matthias;
- Kupsch, Andreas;
- Moro, Elena;
- Volkmann, Jens
Publication type:
Article
Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 185, doi. 10.1038/ejhg.2011.150
By:
- Balog, Judit;
- Miller, Dan;
- Sanchez-Curtailles, Elena;
- Carbo-Marques, Jose;
- Block, Gregory;
- Potman, Marco;
- de Knijff, Peter;
- Lemmers, Richard JLF;
- Tapscott, Stephen J;
- van der Maarel, Silvère M
Publication type:
Article
Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms.
Published in:
2012
By:
- Isrie, Mala;
- Hendriks, Yvonne;
- Gielissen, Nicole;
- Sistermans, Erik A;
- Willemsen, Marjolein H;
- Peeters, Hilde;
- Vermeesch, Joris R;
- Kleefstra, Tjitske;
- Van Esch, Hilde
Publication type:
Letter
A useful guide for your practice.
Published in:
2012
By:
- Rusu, Cristina
Publication type:
Book Review
Clinical utility gene card for: Central core disease.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 1, doi. 10.1038/ejhg.2011.179
By:
- Lillis, Suzanne;
- Abbs, Stephen;
- Mueller, Clemens R;
- Muntoni, Francesco;
- Jungbluth, Heinz
Publication type:
Article
Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 1, doi. 10.1038/ejhg.2011.158
By:
- Morcel, Karine;
- Dallapiccola, Bruno;
- Pasquier, Laurent;
- Watrin, Tanguy;
- Bernardini, Laura;
- Guerrier, Daniel
Publication type:
Article
Involvement of surfactant protein D in emphysema revealed by genetic association study.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 230, doi. 10.1038/ejhg.2011.183
By:
- Ishii, Takeo;
- Hagiwara, Koichi;
- Kamio, Koichiro;
- Ikeda, Shinobu;
- Arai, Tomio;
- Mieno, Makiko Naka;
- Kumasaka, Toshio;
- Muramatsu, Masaaki;
- Sawabe, Motoji;
- Gemma, Akihiko;
- Kida, Kozui
Publication type:
Article
Genome-wide homozygosity and multiple sclerosis in Orkney and Shetland Islanders.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 198, doi. 10.1038/ejhg.2011.170
By:
- McWhirter, Rebekah E;
- McQuillan, Ruth;
- Visser, Elizabeth;
- Counsell, Carl;
- Wilson, James F
Publication type:
Article
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 166, doi. 10.1038/ejhg.2011.157
By:
- Nowakowska, Beata A;
- de Leeuw, Nicole;
- Ruivenkamp, Claudia AL;
- Sikkema-Raddatz, Birgit;
- Crolla, John A;
- Thoelen, Reinhilde;
- Koopmans, Marije;
- den Hollander, Nicolette;
- van Haeringen, Arie;
- van der Kevie-Kersemaekers, Anne-Marie;
- Pfundt, Rolph;
- Mieloo, Hanneke;
- van Essen, Ton;
- de Vries, Bert B A;
- Green, Andrew;
- Reardon, Willie;
- Fryns, Jean-Pierre;
- Vermeesch, Joris R
Publication type:
Article
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 176, doi. 10.1038/ejhg.2011.171
By:
- Nagamani, Sandesh C Sreenath;
- Erez, Ayelet;
- Bay, Carolyn;
- Pettigrew, Anjana;
- Lalani, Seema R;
- Herman, Kristin;
- Graham, Brett H;
- Nowaczyk, Malgorzata JM;
- Proud, Monica;
- Craigen, William J;
- Hopkins, Bobbi;
- Kozel, Beth;
- Plunkett, Katie;
- Hixson, Patricia;
- Stankiewicz, Pawel;
- Patel, Ankita;
- Cheung, Sau Wai
Publication type:
Article
Association of TMEM18 variants with BMI and waist circumference in children and correlation of mRNA expression in the PFC with body weight in rats.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 192, doi. 10.1038/ejhg.2011.176
By:
- Rask-Andersen, Mathias;
- Jacobsson, Josefin A;
- Moschonis, George;
- Chavan, Rohit A;
- Sikder, Md Abu Noman;
- Allzén, Elin;
- Alsiö, Johan;
- Chrousos, George P;
- Manios, Yannis;
- Fredriksson, Robert;
- Schiöth, Helgi B
Publication type:
Article
DNA and ability to reproduce: the 'Secret' of evolution.
Published in:
2012
By:
- Ferlini, Alessandra
Publication type:
Book Review
Permanence of the information given during oncogenetic counseling to persons at familial risk of breast/ovarian and/or colon cancer.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 141, doi. 10.1038/ejhg.2011.169
By:
- Kwiatkowski, Fabrice;
- Dessenne, Pascal;
- Laquet, Claire;
- Petit, Marie-Françoise;
- Bignon, Yves-Jean
Publication type:
Article
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 148, doi. 10.1038/ejhg.2011.167
By:
- Vieira, Gustavo H;
- Rodriguez, Jayson D;
- Carmona-Mora, Paulina;
- Cao, Lei;
- Gamba, Bruno F;
- Carvalho, Daniel R;
- de Rezende Duarte, Andréa;
- Santos, Suely R;
- de Souza, Deise H;
- DuPont, Barbara R;
- Walz, Katherina;
- Moretti-Ferreira, Danilo;
- Srivastava, Anand K
Publication type:
Article
Imaging genetics of FOXP2 in dyslexia.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 224, doi. 10.1038/ejhg.2011.160
By:
- Wilcke, Arndt;
- Ligges, Carolin;
- Burkhardt, Jana;
- Alexander, Michael;
- Wolf, Christiane;
- Quente, Elfi;
- Ahnert, Peter;
- Hoffmann, Per;
- Becker, Albert;
- Müller-Myhsok, Bertram;
- Cichon, Sven;
- Boltze, Johannes;
- Kirsten, Holger
Publication type:
Article
Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 134, doi. 10.1038/ejhg.2011.155
By:
- Haasdijk, Remco A;
- Cheng, Caroline;
- Maat-Kievit, Anneke J;
- Duckers, Henricus J
Publication type:
Article
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 161, doi. 10.1038/ejhg.2011.174
By:
- Hanemaaijer, Nicolien M;
- Sikkema-Raddatz, Birgit;
- van der Vries, Gerben;
- Dijkhuizen, Trijnie;
- Hordijk, Roel;
- van Essen, Anthonie J;
- Veenstra-Knol, Hermine E;
- Kerstjens-Frederikse, Wilhelmina S;
- Herkert, Johanna C;
- Gerkes, Erica H;
- Leegte, Lamberta K;
- Kok, Klaas;
- Sinke, Richard J;
- van Ravenswaaij-Arts, Conny M A
Publication type:
Article
Surname and Y chromosome in Southern Europe: a case study with Colom/Colombo.
Published in:
2012
By:
- Martínez-González, Luis Javier;
- Martínez-Espín, Esther;
- Álvarez, Juan Carlos;
- Albardaner, Francesc;
- Rickards, Olga;
- Martínez-Labarga, Cristina;
- Calafell, Francesc;
- Lorente, José Antonio
Publication type:
Case Study
Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development.
Published in:
2012
By:
- Bhoj, Elizabeth J;
- Ramos, Purita;
- Baker, Linda A;
- Garg, Vidu;
- Cost, Nicholas;
- Nordenskjöld, Agneta;
- Elder, Frederick F;
- Bleyl, Steven B;
- Bowles, Neil E;
- Arrington, Cammon B;
- Delhomme, Brigitte;
- Vanhoutteghem, Amandine;
- Djian, Philippe;
- Zinn, Andrew R
Publication type:
Correction Notice
Clinical utility gene card for: Cystinuria.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 1, doi. 10.1038/ejhg.2011.163
By:
- Eggermann, Thomas;
- Zerres, Klaus;
- Nunes, Virginia;
- Font-Llitjós, Mariona;
- Bisceglia, Luigi;
- Chatzikyriakidou, Anthoula;
- Strologo, Luca dello;
- Pras, Elon;
- Creemers, John;
- Palacin, Manuel
Publication type:
Article
Clinical utility gene card for: Fabry disease.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 1, doi. 10.1038/ejhg.2011.178
By:
- Gal, Andreas;
- Beck, Michael;
- Winchester, Bryan
Publication type:
Article
Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 240, doi. 10.1038/ejhg.2011.166
By:
- Poole, Rebecca L;
- Leith, Donald J;
- Docherty, Louise E;
- Shmela, Mansur E;
- Gicquel, Christine;
- Splitt, Miranda;
- Temple, I Karen;
- Mackay, Deborah J G
Publication type:
Article
Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 180, doi. 10.1038/ejhg.2011.161
By:
- Viart, Victoria;
- Georges, Marie Des;
- Claustres, Mireille;
- Taulan, Magali
Publication type:
Article
De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 155, doi. 10.1038/ejhg.2011.182
By:
- Sibbons, Charlene;
- Morris, Joan K;
- Crolla, John A;
- Jacobs, Patricia A;
- Thomas, N Simon
Publication type:
Article
Clinical utility gene card for: Phenylketonuria.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 1, doi. 10.1038/ejhg.2011.172
By:
- Zschocke, Johannes;
- Haverkamp, Thomas;
- Møller, Lisbeth Birk
Publication type:
Article
Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 236, doi. 10.1038/ejhg.2011.152
By:
- van Lier, Margot G F;
- Korsse, Susanne E;
- Mathus-Vliegen, Elisabeth M H;
- Kuipers, Ernst J;
- van den Ouweland, Ans M W;
- Vanheusden, Kathleen;
- van Leerdam, Monique E;
- Wagner, Anja
Publication type:
Article
On the statistical properties of family-based association tests in datasets containing both pedigrees and unrelated case-control samples.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 217, doi. 10.1038/ejhg.2011.173
By:
- Hiekkalinna, Tero;
- Göring, Harald HH;
- Lambert, Brian;
- Weiss, Kenneth M;
- Norrgrann, Petri;
- Schäffer, Alejandro A;
- Terwilliger, Joseph D
Publication type:
Article
A British approach to sampling.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 129, doi. 10.1038/ejhg.2011.153
By:
- Tyler-Smith, Chris;
- Xue, Yali
Publication type:
Article
People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 203, doi. 10.1038/ejhg.2011.127
By:
- Winney, Bruce;
- Boumertit, Abdelhamid;
- Day, Tammy;
- Davison, Dan;
- Echeta, Chikodi;
- Evseeva, Irina;
- Hutnik, Katarzyna;
- Leslie, Stephen;
- Nicodemus, Kristin;
- Royrvik, Ellen C;
- Tonks, Susan;
- Yang, Xiaofeng;
- Cheshire, James;
- Longley, Paul;
- Mateos, Pablo;
- Groom, Alexandra;
- Relton, Caroline;
- Bishop, D Tim;
- Black, Kathryn;
- Northwood, Emma
Publication type:
Article
Clinical utility gene card for: Multi-minicore disease.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 1, doi. 10.1038/ejhg.2011.180
By:
- Lillis, Suzanne;
- Abbs, Steve;
- Ferreiro, Ana;
- Muntoni, Francesco;
- Jungbluth, Heinz
Publication type:
Article