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