Works matching IS 10184813 AND DT 2009 AND VI 17 AND IP 6

Results: 23

Listen carefully: LIS1 and DCX MLPA in lissencephaly and subcortical band heterotopia.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 6, p. 701, doi. 10.1038/ejhg.2008.230

By:

Delatycki, Martin B.;
Leventer, Richard J.

Publication type:

Article

Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 6, p. 820, doi. 10.1038/ejhg.2008.249

By:

Battaglia, Vincenza;
Fornarino, Simona;
Al-Zahery, Nadia;
Olivieri, Anna;
Pala, Maria;
Myres, Natalie M.;
King, Roy J.;
Rootsi, Siiri;
Marjanovic, Damir;
Primorac, Dragan;
Hadziselimovic, Rifat;
Vidovic, Stojko;
Drobnic, Katia;
Durmishi, Naser;
Torroni, Antonio;
Santachiara-Benerecetti, A. Silvana;
Underhill, Peter A.;
Semino, Ornella

Publication type:

Article

Gains in power for exhaustive analyses of haplotypes using variable-sized sliding window strategy: a comparison of association-mapping strategies.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 6, p. 785, doi. 10.1038/ejhg.2008.244

By:

Yanfang Guo;
Jian Li;
Bonham, Aaron J.;
Yuping Wang;
Hongwen Deng

Publication type:

Article

MYO9B polymorphisms in multiple sclerosis.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 6, p. 840, doi. 10.1038/ejhg.2008.251

By:

Kemppinen, Anu;
Suvela, Minna;
Tienari, Pentti J.;
Elovaara, Irina;
Koivisto, Keijo;
Pirttilä, Tuula;
Reunanen, Mauri;
Rautakorpi, Ilkka;
Hillert, Jan;
Lundmark, Frida;
Oturai, Annette;
Ryder, Lars;
Harbo, Hanne F.;
Celius, Elisabeth G.;
Palotie, Aarno;
Daly, Mark;
Peltonen, Leena;
Saarela, Janna

Publication type:

Article

When linkage signal for autism MET candidate gene.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 6, p. 699, doi. 10.1038/ejhg.2008.217

By:

Campbell, Daniel B.

Publication type:

Article

Breast cancer susceptibility: current knowledge and implications for genetic counselling.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 6, p. 722, doi. 10.1038/ejhg.2008.212

By:

Ripperger, Tim;
Gadzicki, Dorothea;
Meindl, Alfons;
Schlegelberger, Brigitte

Publication type:

Article

MET and autism susceptibility: family and case–control studies.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 6, p. 749, doi. 10.1038/ejhg.2008.215

By:

Sousa, Inês;
Clark, Taane G.;
Toma, Claudio;
Kobayashi, Kazuhiro;
Choma, Maja;
Holt, Richard;
Sykes, Nuala H.;
Lamb, Janine A.;
Bailey, Anthony J.;
Battaglia, Agatino;
Maestrini, Elena;
Monaco, Anthony P.

Publication type:

Article

The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 6, p. 774, doi. 10.1038/ejhg.2008.245

By:

Choi, Sun J.;
Marazita, Mary L.;
Hart, P. Suzanne;
Sulima, Pawel P.;
Field, L. Leigh;
McHenry, Toby Goldstein;
Govil, Manika;
Cooper, Margaret E.;
Letra, Ariadne;
Menezes, Renato;
Narayanan, Somnya;
Mansilla, Maria Adela;
Granjeiro, José M.;
Vieira, Alexandre R.;
Lidral, Andrew C.;
Murray, Jeffrey C.;
Hart, Thomas C.

Publication type:

Article

Global similarity with local differences in linkage disequilibrium between the Dutch and HapMap–CEU populations.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 6, p. 802, doi. 10.1038/ejhg.2008.248

By:

Pardo, Luba;
Bochdanovits, Zoltán;
de Geus, Eco;
Hottenga, Jouke J.;
Sullivan, Patrick;
Posthuma, Danielle;
Penninx, Brenda W. J. H.;
Boomsma, Dorret;
Heutink, Peter

Publication type:

Article

Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 6, p. 766, doi. 10.1038/ejhg.2008.243

By:

Lorenz, Delia;
Klebe, Stephan;
Stevanin, Giovanni;
Thier, Sandra;
Nebel, Almut;
Feingold, Josué;
Frederiksen, Henrik;
Denis, Elodie;
Christensen, Kaare;
Schreiber, Stefan;
Brice, Alexis;
Deuschl, Günther;
Dürr, Alexandra

Publication type:

Article

Maternal transmission effects of the PAX genes among cleft case–parent trios from four populations.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 6, p. 831, doi. 10.1038/ejhg.2008.250

By:

Jae Woong Sull;
Kung-Yee Liang;
Hetmanski, Jacqueline B.;
Fallin, Margaret Daniele;
Ingersoll, Roxanne G.;
Jiwan Park;
Yah-Huei Wu-Chou;
Chen, Philip K.;
Chong, Samuel S.;
Cheah, Felicia;
Yeow, Vincent;
Beyoung Yun Park;
Sun Ha Jee;
Jabs, Ethylin W.;
Redett, Richard;
Scott, Alan F.;
Beaty, Terri H.

Publication type:

Article

Rational diagnostic strategy for Zellweger syndrome spectrum patients.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 6, p. 741, doi. 10.1038/ejhg.2008.252

By:

Krause, Cindy;
Rosewich, Hendrik;
Gärtner, Jutta

Publication type:

Article

Variable number of tandem repeat polymorphisms of DRD4: re-evaluation of selection hypothesis and analysis of association with schizophrenia.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 6, p. 793, doi. 10.1038/ejhg.2008.247

By:

Hattori, Eiji;
Nakajima, Mizuho;
Yamada, Kazuo;
Iwayama, Yoshimi;
Toyota, Tomoko;
Saitou, Naruya;
Yoshikawa, Takeo

Publication type:

Article

EuroGentest patient information leaflets: a free resource available in over 20 languages.

Published in:

2009

By:

Lewis, Celine;
Kent, Alastair;
Skirton, Heather;
Coviello, Domenico

Publication type:

Letter

Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe.

Published in:

2009

By:

Battaglia, Vincenza;
Fornarino, Simona;
Al-Zahery, Nadia;
Olivieri, Anna;
Pala, Maria;
Myres, Natalie M;
King, Roy J;
Rootsi, Siiri;
Marjanovic, Damir;
Primorac, Dragan;
Hadziselimovic, Rifat;
Vidovic, Stojko;
Drobnic, Katia;
Durmishi, Naser;
Torroni, Antonio;
Santachiara-Benerecetti, A Silvana;
Underhill, Peter A;
Semino, Ornella

Publication type:

Correction Notice

Genetic testing in asymptomatic minorsBackground considerations towards ESHG Recommendations.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 6, p. 711, doi. 10.1038/ejhg.2009.25

By:

Borry, Pascal;
Evers-Kiebooms, Gerry;
Cornel, Martina C.;
Clarke, Angus;
Dierickx, Kris

Publication type:

Article

Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 6, p. 811, doi. 10.1038/ejhg.2008.255

By:

McBride, Kim L.;
Zender, Gloria A.;
Fitzgerald-Butt, Sara M.;
Koehler, Daniel;
Menesses-Diaz, Andres;
Fernbach, Susan;
Kwanghyuk Lee;
Towbin, Jeffrey A.;
Leal, Suzanne;
Belmont, John W.

Publication type:

Article

IFIH1-GCA-KCNH7 locus is not associated with genetic susceptibility to multiple sclerosis in French patients.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 6, p. 844, doi. 10.1038/ejhg.2008.259

By:

Couturier, Nicolas;
Gourraud, Pierre-Antoine;
Cournu-Rebeix, Isabelle;
Gout, Claire;
Bucciarelli, Florence;
Edan, Gilles;
Babron, Marie-Claude;
Clerget-Darpoux, Françoise;
Clanet, Michel;
Fontaine, Bertrand;
Brassat, David

Publication type:

Article

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 6, p. 733, doi. 10.1038/ejhg.2008.256

By:

Dentici, Maria Lisa;
Sarkozy, Anna;
Pantaleoni, Francesca;
Carta, Claudio;
Lepri, Francesca;
Ferese, Rosangela;
Cordeddu, Viviana;
Martinelli, Simone;
Briuglia, Silvana;
Digilio, Maria Cristina;
Zampino, Giuseppe;
Tartaglia, Marco;
Dallapiccola, Bruno

Publication type:

Article

Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 6, p. 848, doi. 10.1038/ejhg.2008.258

By:

Capelli, Cristian;
Onofri, Valerio;
Brisighelli, Francesca;
Boschi, Ilaria;
Scarnicci, Francesca;
Masullo, Mara;
Ferri, Gianmarco;
Tofanelli, Sergio;
Tagliabracci, Adriano;
Gusmao, Leonor;
Amorim, Antonio;
Gatto, Francesco;
Kirin, Mirna;
Merlitti, Davide;
Brion, Maria;
Verea, Alejandro Blanco;
Romano, Valentino;
Cali, Francesco;
Pascali, Vincenzo

Publication type:

Article

Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 6, p. 759, doi. 10.1038/ejhg.2008.257

By:

Divina, Petr;
Kvitkovicova, Andrea;
Buratti, Emanuele;
Vorechovsky, Igor

Publication type:

Article

Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics.

Published in:: European Journal of Human Genetics, 2009, v. 17, n. 6, p. 720, doi. 10.1038/ejhg.2009.26
Publication type:: Article

Charcot–Marie–Tooth disease.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 6, p. 703, doi. 10.1038/ejhg.2009.31

By:

Szigeti, Kinga;
Lupski, James R

Publication type:

Article