Works matching IS 10184813 AND DT 2015 AND VI 23 AND IP 9

Results: 29

Clinical utility gene card for: Alport syndrome - update 2014.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. -1, doi. 10.1038/ejhg.2014.254
By:
- Hertz, Jens Michael;
- Thomassen, Mads;
- Storey, Helen;
- Flinter, Frances
Publication type:
Article
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1270, doi. 10.1038/ejhg.2015.44
By:
- Vrijenhoek, Terry;
- Kraaijeveld, Ken;
- Elferink, Martin;
- de Ligt, Joep;
- Kranendonk, Elcke;
- Santen, Gijs;
- Nijman, Isaac J;
- Butler, Derek;
- Claes, Godelieve;
- Costessi, Adalberto;
- Dorlijn, Wim;
- van Eyndhoven, Winfried;
- Halley, Dicky JJ;
- van den Hout, Mirjam CGN;
- van Hove, Steven;
- Johansson, Lennart F;
- Jongbloed, Jan DH;
- Kamps, Rick;
- Kockx, Christel EM;
- de Koning, Bart
Publication type:
Article
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1116, doi. 10.1038/ejhg.2014.272
By:
- Mora, Marina;
- Angelini, Corrado;
- Bignami, Fabrizia;
- Bodin, Anne-Mary;
- Crimi, Marco;
- Di Donato, Jeanne- Hélène;
- Felice, Alex;
- Jaeger, Cécile;
- Karcagi, Veronika;
- LeCam, Yann;
- Lynn, Stephen;
- Meznaric, Marija;
- Moggio, Maurizio;
- Monaco, Lucia;
- Politano, Luisa;
- de la Paz, Manuel Posada;
- Saker, Safaa;
- Schneiderat, Peter;
- Ensini, Monica;
- Garavaglia, Barbara
Publication type:
Article
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1266, doi. 10.1038/ejhg.2014.256
By:
- Gauthier, Julie;
- Ouled Amar Bencheikh, Bouchra;
- Hamdan, Fadi F;
- Harrison, Steven M;
- Baker, Linda A;
- Couture, Françoise;
- Thiffault, Isabelle;
- Ouazzani, Reda;
- Samuels, Mark E;
- Mitchell, Grant A;
- Rouleau, Guy A;
- Michaud, Jacques L;
- Soucy, Jean- François
Publication type:
Article
Exome sequencing followed by genotyping suggests SYPL2 as a susceptibility gene for morbid obesity.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1216, doi. 10.1038/ejhg.2014.255
By:
- Jiao, Hong;
- Arner, Peter;
- Gerdhem, Paul;
- Strawbridge, Rona J;
- Näslund, Erik;
- Thorell, Anders;
- Hamsten, Anders;
- Kere, Juha;
- Dahlman, Ingrid
Publication type:
Article
Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1259, doi. 10.1038/ejhg.2014.295
By:
- Kassner, Ursula;
- Salewsky, Bastian;
- Wühle-Demuth, Marion;
- Szijarto, Istvan Andras;
- Grenkowitz, Thomas;
- Binner, Priska;
- März, Winfried;
- Steinhagen-Thiessen, Elisabeth;
- Demuth, Ilja
Publication type:
Article
Isolation and prominent aboriginal maternal legacy in the present-day population of La Gomera (Canary Islands).
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1236, doi. 10.1038/ejhg.2014.251
By:
- Fregel, Rosa;
- Cabrera, Vicente M;
- Larruga, José M;
- Hernández, Juan C;
- Gámez, Alejandro;
- Pestano, Jose J;
- Arnay, Matilde;
- González, Ana M
Publication type:
Article
Heritability of liver enzyme levels estimated from genome-wide SNP data.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1223, doi. 10.1038/ejhg.2014.259
By:
- van Beek, Jenny H D A;
- Lubke, Gitta H;
- de Moor, Marleen H M;
- Willemsen, Gonneke;
- de Geus, Eco J C;
- Hottenga, Jouke Jan;
- Walters, Raymond K;
- Smit, Jan H;
- Penninx, Brenda W J H;
- Boomsma, Dorret I
Publication type:
Article
Effects of copy number variable regions on local gene expression in white blood cells of Mexican Americans.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1229, doi. 10.1038/ejhg.2014.280
By:
- Blackburn, August;
- Almeida, Marcio;
- Dean, Angela;
- Curran, Joanne E;
- Johnson, Matthew P;
- Moses, Eric K;
- Abraham, Lawrence J;
- Carless, Melanie A;
- Dyer, Thomas D;
- Kumar, Satish;
- Almasy, Laura;
- Mahaney, Michael C;
- Comuzzie, Anthony;
- Williams-Blangero, Sarah;
- Blangero, John;
- Lehman, Donna M;
- Göring, Harald H H
Publication type:
Article
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1186, doi. 10.1038/ejhg.2014.264
By:
- Steinkellner, Hannes;
- Etzler, Julia;
- Gogoll, Laura;
- Neesen, Jürgen;
- Stifter, Eva;
- Brandau, Oliver;
- Laccone, Franco
Publication type:
Article
Resequencing of LPL in African Blacks and associations with lipoprotein-lipid levels.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1244, doi. 10.1038/ejhg.2014.268
By:
- Pirim, Dilek;
- Wang, Xingbin;
- Radwan, Zaheda H;
- Niemsiri, Vipavee;
- Bunker, Clareann H;
- Barmada, M Michael;
- Kamboh, M Ilyas;
- Demirci, F Yesim
Publication type:
Article
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1151, doi. 10.1038/ejhg.2014.273
By:
- Tan-Sindhunata, M Brigita;
- Mathijssen, Inge B;
- Smit, Margriet;
- Baas, Frank;
- de Vries, Johanna I;
- van der Voorn, J Patrick;
- Kluijt, Irma;
- Hagen, Marleen A;
- Blom, Eveline W;
- Sistermans, Erik;
- Meijers-Heijboer, Hanne;
- Waisfisz, Quinten;
- Weiss, Marjan M;
- Groffen, Alexander J
Publication type:
Article
Association of rare variation in the glutamate receptor gene SLC1A2 with susceptibility to bipolar disorder and schizophrenia.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1200, doi. 10.1038/ejhg.2014.261
By:
- Fiorentino, Alessia;
- Sharp, Sally I;
- McQuillin, Andrew
Publication type:
Article
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1192, doi. 10.1038/ejhg.2014.252
By:
- Bullich, Gemma;
- Trujillano, Daniel;
- Santín, Sheila;
- Ossowski, Stephan;
- Mendizábal, Santiago;
- Fraga, Gloria;
- Madrid, Álvaro;
- Ariceta, Gema;
- Ballarín, José;
- Torra, Roser;
- Estivill, Xavier;
- Ars, Elisabet
Publication type:
Article
ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1113, doi. 10.1038/ejhg.2014.262
By:
- Pembrey, Marcus;
- Golding, Jean;
- Connelly, Jessica
Publication type:
Article
A human laterality disorder associated with a homozygous WDR16 deletion.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1262, doi. 10.1038/ejhg.2014.265
By:
- Ta-Shma, Asaf;
- Perles, Zeev;
- Yaacov, Barak;
- Werner, Marion;
- Frumkin, Ayala;
- Rein, Azaria JJT;
- Elpeleg, Orly
Publication type:
Article
Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1135, doi. 10.1038/ejhg.2014.260
By:
- Hayeems, Robin Z;
- Hoang, Ny;
- Chenier, Sebastien;
- Stavropoulos, Dimitri J;
- Pu, Shuye;
- Weksberg, Rosanna;
- Shuman, Cheryl
Publication type:
Article
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1142, doi. 10.1038/ejhg.2014.279
By:
- Vrijenhoek, Terry;
- Kraaijeveld, Ken;
- Elferink, Martin;
- de Ligt, Joep;
- Kranendonk, Elcke;
- Santen, Gijs;
- Nijman, Isaac J;
- Butler, Derek;
- Claes, Godelieve;
- Costessi, Adalberto;
- Dorlijn, Wim;
- van Eyndhoven, Winfried;
- Halley, Dicky J J;
- van den Hout, Mirjam C G N;
- van Hove, Steven;
- Johansson, Lennart F;
- Jongbloed, Jan D H;
- Kamps, Rick;
- Kockx, Christel E M;
- de Koning, Bart
Publication type:
Article
Consent procedures in pediatric biobanks.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1129, doi. 10.1038/ejhg.2014.267
By:
- Giesbertz, Noor AA;
- Bredenoord, Annelien L;
- van Delden, Johannes JM
Publication type:
Article
Further delineation of the KBG syndrome caused by ANKRD11 aberrations.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1270, doi. 10.1038/ejhg.2015.130
By:
- Ockeloen, Charlotte W;
- Willemsen, Marjolein H;
- de Munnik, Sonja;
- van Bon, Bregje WM;
- de Leeuw, Nicole;
- Verrips, Aad;
- Kant, Sarina G;
- Jones, Elizabeth A;
- Brunner, Han G;
- van Loon, Rosa LE;
- Smeets, Eric EJ;
- van Haelst, Mieke M;
- van Haaften, Gijs;
- Nordgren, Ann;
- Malmgren, Helena;
- Grigelioniene, Giedre;
- Vermeer, Sascha;
- Louro, Pedro;
- Ramos, Lina;
- Maal, Thomas JJ
Publication type:
Article
Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1113, doi. 10.1038/ejhg.2014.275
By:
- Ceroni, Fabiola;
- Simpson, Nuala H;
- Francks, Clyde;
- Baird, Gillian;
- Conti-Ramsden, Gina;
- Clark, Ann;
- Bolton, Patrick F;
- Hennessy, Elizabeth R;
- Donnelly, Peter;
- Bentley, David R;
- Martin, Hilary;
- Parr, Jeremy;
- Pagnamenta, Alistair T;
- Maestrini, Elena;
- Bacchelli, Elena;
- Fisher, Simon E;
- Newbury, Dianne F
Publication type:
Article
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1176, doi. 10.1038/ejhg.2014.253
By:
- Ockeloen, Charlotte W;
- Willemsen, Marjolein H;
- de Munnik, Sonja;
- van Bon, Bregje WM;
- de Leeuw, Nicole;
- Verrips, Aad;
- Kant, Sarina G;
- Jones, Elizabeth A;
- Brunner, Han G;
- van Loon, Rosa LE;
- Smeets, Eric EJ;
- van Haelst, Mieke M;
- van Haaften, Gijs;
- Nordgren, Ann;
- Malmgren, Helena;
- Grigelioniene, Giedre;
- Vermeer, Sascha;
- Louro, Pedro;
- Ramos, Lina;
- Maal, Thomas JJ
Publication type:
Article
Clinical utility gene card for: Trimethylaminuria - update 2014.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. -1, doi. 10.1038/ejhg.2014.226
By:
- Shephard, Elizabeth A;
- Treacy, Eileen P;
- Phillips, Ian R
Publication type:
Article
Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1171, doi. 10.1038/ejhg.2014.249
By:
- Williamson, Sarah L;
- Ellaway, Carolyn J;
- Peters, Greg B;
- Pelka, Gregory J;
- Tam, Patrick PL;
- Christodoulou, John
Publication type:
Article
Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1207, doi. 10.1038/ejhg.2014.266
By:
- Rehman, Atteeq U;
- Santos-Cortez, Regie Lyn P;
- Drummond, Meghan C;
- Shahzad, Mohsin;
- Lee, Kwanghyuk;
- Morell, Robert J;
- Ansar, Muhammad;
- Jan, Abid;
- Wang, Xin;
- Aziz, Abdul;
- Riazuddin, Saima;
- Smith, Joshua D;
- Wang, Gao T;
- Ahmed, Zubair M;
- Gul, Khitab;
- Shearer, A Eliot;
- Smith, Richard J H;
- Shendure, Jay;
- Bamshad, Michael J;
- Nickerson, Deborah A
Publication type:
Article
Primary coenzyme Q<sub>10</sub> deficiency presenting as fatal neonatal multiorgan failure.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1254, doi. 10.1038/ejhg.2014.277
By:
- Desbats, Maria Andrea;
- Vetro, Annalisa;
- Limongelli, Ivan;
- Lunardi, Giada;
- Casarin, Alberto;
- Doimo, Mara;
- Spinazzi, Marco;
- Angelini, Corrado;
- Cenacchi, Giovanna;
- Burlina, Alberto;
- Rodriguez Hernandez, Maria Angeles;
- Chiandetti, Lino;
- Clementi, Maurizio;
- Trevisson, Eva;
- Navas, Placido;
- Zuffardi, Orsetta;
- Salviati, Leonardo
Publication type:
Article
Maximising the efficiency of clinical screening programmes: balancing predictive genetic testing with a right not to know.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1124, doi. 10.1038/ejhg.2014.269
By:
- Schuurman, Agnes G;
- van der Kolk, Dorina M;
- Verkerk, Marian A;
- Birnie, Erwin;
- Ranchor, Adelita V;
- Plantinga, Mirjam;
- van Langen, Irene M
Publication type:
Article
Confirmation of a founder effect in a Northern European population of a new β-globin variant: HBB:c.23_26dup (codons 8/9 (+AGAA)).
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1158, doi. 10.1038/ejhg.2014.263
By:
- Marchi, Nina;
- Pissard, Serge;
- Cliquennois, Manuel;
- Vasseur, Christian;
- Le Metayer, Nathalie;
- Mereau, Claude;
- Jouet, Jean Pierre;
- Georgel, Anne-France;
- Genin, Emmanuelle;
- Rose, Christian
Publication type:
Article
Further delineation of the KAT6B molecular and phenotypic spectrum.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1165, doi. 10.1038/ejhg.2014.248
By:
- Gannon, Tamsin;
- Perveen, Rahat;
- Schlecht, Hélene;
- Ramsden, Simon;
- Anderson, Beverley;
- Kerr, Bronwyn;
- Day, Ruth;
- Banka, Siddharth;
- Suri, Mohnish;
- Berland, Siren;
- Gabbett, Michael;
- Ma, Alan;
- Lyonnet, Stan;
- Cormier-Daire, Valerie;
- Yilmaz, Rüstem;
- Borck, Guntram;
- Wieczorek, Dagmar;
- Anderlid, Britt-Marie;
- Smithson, Sarah;
- Vogt, Julie
Publication type:
Article