Works matching IS 10184813 AND DT 2014 AND VI 22 AND IP 3

Results: 28

The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 338, doi. 10.1038/ejhg.2013.147

By:

Nazaryan, Lusine;
Stefanou, Eunice G;
Hansen, Claus;
Kosyakova, Nadezda;
Bak, Mads;
Sharkey, Freddie H;
Mantziou, Theodora;
Papanastasiou, Anastasios D;
Velissariou, Voula;
Liehr, Thomas;
Syrrou, Maria;
Tommerup, Niels

Publication type:

Article

Dysmorphology at a distance: results of a web-based diagnostic service.

Published in:: European Journal of Human Genetics, 2014, v. 22, n. 3, p. 327, doi. 10.1038/ejhg.2013.137
Publication type:: Article

Expansive marker analysis replicating the association of glaucoma susceptibility with human chromosome loci 1q43 and 10p12.31.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 409, doi. 10.1038/ejhg.2013.149

By:

Kim, Kyunglan;
Heo, Dong Won;
Kim, Sewon;
Kim, Jong-Sung;
Kim, Chang-sik;
Kang, Changwon

Publication type:

Article

Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 307, doi. 10.1038/ejhg.2013.134

By:

Silva, Amanda G;
Krepischi, Ana CV;
Torrezan, Giovana T;
Capelli, Leonardo P;
Carraro, Dirce M;
D'Angelo, Carla S;
Koiffmann, Celia P;
Zatz, Mayana;
Naslavsky, Michel S;
Masotti, Cibele;
Otto, Paulo A;
Achatz, Maria IW;
Mills, Ryan E;
Lee, Charles;
Pearson, Peter L;
Rosenberg, Carla

Publication type:

Article

Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 374, doi. 10.1038/ejhg.2013.159

By:

Cohen, Idan;
Silberstein, Eldad;
Perez, Yonatan;
Landau, Daniella;
Elbedour, Khalil;
Langer, Yshaia;
Kadir, Rotem;
Volodarsky, Michael;
Sivan, Sara;
Narkis, Ginat;
Birk, Ohad S

Publication type:

Article

Meta-analysis of SNPs involved in variance heterogeneity using Levene's test for equal variances.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 427, doi. 10.1038/ejhg.2013.166

By:

Deng, Wei Q;
Asma, Senay;
Paré, Guillaume

Publication type:

Article

A systematic review of cancer GWAS and candidate gene meta-analyses reveals limited overlap but similar effect sizes.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 402, doi. 10.1038/ejhg.2013.161

By:

Chang, Christine Q;
Yesupriya, Ajay;
Rowell, Jessica L;
Pimentel, Camilla B;
Clyne, Melinda;
Gwinn, Marta;
Khoury, Muin J;
Wulf, Anja;
Schully, Sheri D

Publication type:

Article

A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 423, doi. 10.1038/ejhg.2013.146

By:

Rivera, B;
Perea, J;
Sánchez, E;
Villapún, M;
Sánchez-Tomé, E;
Mercadillo, F;
Robledo, M;
Benítez, J;
Urioste, M

Publication type:

Article

THEMIS and PTPRK in celiac intestinal mucosa: coexpression in disease and after in vitro gliadin challenge.

Published in:: European Journal of Human Genetics, 2014, v. 22, n. 3, p. 358, doi. 10.1038/ejhg.2013.136
Publication type:: Article

Experiences of predictive testing in young people at risk of Huntington's disease, familial cardiomyopathy or hereditary breast and ovarian cancer.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 396, doi. 10.1038/ejhg.2013.143

By:

MacLeod, Rhona;
Beach, Anna;
Henriques, Sasha;
Knopp, Jasmin;
Nelson, Katie;
Kerzin-Storrar, Lauren

Publication type:

Article

The Moroccan Genetic Disease Database (MGDD): a database for DNA variations related to inherited disorders and disease susceptibility.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 322, doi. 10.1038/ejhg.2013.151

By:

Charoute, Hicham;
Nahili, Halima;
Abidi, Omar;
Gabi, Khalid;
Rouba, Hassan;
Fakiri, Malika;
Barakat, Abdelhamid

Publication type:

Article

Atrial fibrillation: the role of common and rare genetic variants.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 297, doi. 10.1038/ejhg.2013.139

By:

Olesen, Morten S;
Nielsen, Morten W;
Haunsø, Stig;
Svendsen, Jesper H

Publication type:

Article

Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 391, doi. 10.1038/ejhg.2013.158

By:

Miller, Fiona A;
Hayeems, Robin Z;
Bytautas, Jessica P;
Bedard, Philippe L;
Ernst, Scott;
Hirte, Hal;
Hotte, Sebastien;
Oza, Amit;
Razak, Albiruni;
Welch, Stephen;
Winquist, Eric;
Dancey, Janet;
Siu, Lillian L

Publication type:

Article

Sustained effects of online genetics education: a randomized controlled trial on oncogenetics.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 310, doi. 10.1038/ejhg.2013.163

By:

Houwink, Elisa JF;
van Teeffelen, Sarah R;
Muijtjens, Arno MM;
Henneman, Lidewij;
Jacobi, Florijn;
van Luijk, Scheltus J;
Jan Dinant, Geert;
van der Vleuten, Cees;
Cornel, Martina C

Publication type:

Article

A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 333, doi. 10.1038/ejhg.2013.138

By:

Yıldırım, Yeşerin;
Kerem, Metin;
Köroğlu, Çiğdem;
Tolun, Aslıhan

Publication type:

Article

Clinical utility gene card for: Alagille Syndrome (ALGS).

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 1, doi. 10.1038/ejhg.2013.140

By:

Leonard, Laura D;
Chao, Grace;
Baker, Alastair;
Loomes, Kathleen;
Spinner, Nancy B

Publication type:

Article

Correction for multiple testing in a gene region.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 414, doi. 10.1038/ejhg.2013.144

By:

Hendricks, Audrey E;
Dupuis, Josée;
Logue, Mark W;
Myers, Richard H;
Lunetta, Kathryn L

Publication type:

Article

A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 419, doi. 10.1038/ejhg.2013.157

By:

Mory, Adi;
Ruiz, Francesc X;
Dagan, Efrat;
Yakovtseva, Evgenia A;
Kurolap, Alina;
Parés, Xavier;
Farrés, Jaume;
Gershoni-Baruch, Ruth

Publication type:

Article

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 1, doi. 10.1038/ejhg.2013.132

By:

Eggermann, Thomas;
Algar, Elizabeth;
Lapunzina, Pablo;
Mackay, Deborah;
Maher, Eamonn R;
Mannens, Marcel;
Netchine, Irène;
Prawitt, Dirk;
Riccio, Andrea;
Temple, I Karen;
Weksberg, Rosanna

Publication type:

Article

Genetic analysis of the role of Alx4 in the coordination of lower body and external genitalia formation.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 350, doi. 10.1038/ejhg.2013.160

By:

Matsumaru, Daisuke;
Haraguchi, Ryuma;
Moon, Anne M;
Satoh, Yoshihiko;
Nakagata, Naomi;
Yamamura, Ken-ichi;
Takahashi, Naoki;
Kitazawa, Sohei;
Yamada, Gen

Publication type:

Article

An efficient method for long-term room temperature storage of RNA.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 379, doi. 10.1038/ejhg.2013.145

By:

Fabre, Anne-Lise;
Colotte, Marthe;
Luis, Aurélie;
Tuffet, Sophie;
Bonnet, Jacques

Publication type:

Article

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 344, doi. 10.1038/ejhg.2013.162

By:

Thomas, Shery;
Thomas, Mervyn G;
Andrews, Caroline;
Chan, Wai-Man;
Proudlock, Frank A;
McLean, Rebecca J;
Pradeep, Archana;
Engle, Elizabeth C;
Gottlob, Irene

Publication type:

Article

Clinical utility gene card for: Vici Syndrome.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 1, doi. 10.1038/ejhg.2013.142

By:

Cullup, Thomas;
Dionisi-Vici, Carlo;
Kho, Ay L;
Yau, Shu;
Mohammed, Shehla;
Gautel, Mathias;
Jungbluth, Heinz

Publication type:

Article

Genome-wide estimates of inbreeding in unrelated individuals and their association with cognitive ability.

Published in:: European Journal of Human Genetics, 2014, v. 22, n. 3, p. 386, doi. 10.1038/ejhg.2013.155
Publication type:: Article

Data sharing in large research consortia: experiences and recommendations from ENGAGE.

Published in:: European Journal of Human Genetics, 2014, v. 22, n. 3, p. 317, doi. 10.1038/ejhg.2013.131
Publication type:: Article

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 363, doi. 10.1038/ejhg.2013.135

By:

Cacciagli, Pierre;
Desvignes, Jean-Pierre;
Girard, Nadine;
Delepine, Marc;
Zelenika, Diana;
Lathrop, Mark;
Lévy, Nicolas;
Ledbetter, David H;
Dobyns, William B;
Villard, Laurent

Publication type:

Article

Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 431, doi. 10.1038/ejhg.2013.148

By:

Vondráčková, Alžběta;
Veselá, Kateřina;
Kratochvílová, Hana;
Kučerová Vidrová, Vendula;
Vinšová, Kamila;
Stránecký, Viktor;
Honzík, Tomáš;
Hansíková, Hana;
Zeman, Jiří;
Tesařová, Markéta

Publication type:

Article

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 369, doi. 10.1038/ejhg.2013.141

By:

Pebrel-Richard, Céline;
Debost-Legrand, Anne;
Eymard-Pierre, Eléonore;
Greze, Victoria;
Kemeny, Stéphan;
Gay-Bellile, Mathilde;
Gouas, Laetitia;
Tchirkov, Andreï;
Vago, Philippe;
Goumy, Carole;
Francannet, Christine

Publication type:

Article