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

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

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

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

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

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

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

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