Works matching IS 10184813 AND DT 2014 AND VI 22 AND IP 4

Results: 30

Fine mapping genetic determinants of the highly variably expressed MHC gene ZFP57.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 568, doi. 10.1038/ejhg.2013.244
By:
- Plant, Katharine;
- Fairfax, Benjamin P;
- Makino, Seiko;
- Vandiedonck, Claire;
- Radhakrishnan, Jayachandran;
- Knight, Julian C
Publication type:
Article
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 542, doi. 10.1038/ejhg.2013.171
By:
- Rouzier, Cécile;
- Chaussenot, Annabelle;
- Serre, Valérie;
- Fragaki, Konstantina;
- Bannwarth, Sylvie;
- Ait-El-Mkadem, Samira;
- Attarian, Shahram;
- Kaphan, Elsa;
- Cano, Aline;
- Delmont, Emilien;
- Sacconi, Sabrina;
- de Camaret, Bénédicte Mousson;
- Rio, Marlène;
- Lebre, Anne-Sophie;
- Jardel, Claude;
- Deschamps, Romain;
- Richelme, Christian;
- Pouget, Jean;
- Chabrol, Brigitte;
- Paquis-Flucklinger, Véronique
Publication type:
Article
Clinical Utility Gene Card for: 3-M syndrome - Update 2013.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 00, doi. 10.1038/ejhg.2013.156
By:
- Holder-Espinasse, Muriel;
- Irving, Melita;
- Cormier-Daire, Valérie
Publication type:
Article
Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 458, doi. 10.1038/ejhg.2013.185
By:
- Tyson, Christine;
- Sharp, Andrew J;
- Hrynchak, Monica;
- Yong, Siu L;
- Hollox, Edward J;
- Warburton, Peter;
- Barber, John CK
Publication type:
Article
Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 564, doi. 10.1038/ejhg.2013.215
By:
- Sabbaghian, Nelly;
- Srivastava, Archana;
- Hamel, Nancy;
- Plourde, François;
- Gajtko-Metera, Malgorzata;
- Niedziela, Marek;
- Foulkes, William D
Publication type:
Article
Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 2.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 00, doi. 10.1038/ejhg.2013.187
By:
- Gonzales, Emmanuel;
- Spraul, Anne;
- Jacquemin, Emmanuel
Publication type:
Article
Congenital disorders of glycosylation: other causes of ichthyosis.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 444, doi. 10.1038/ejhg.2013.168
By:
- Jaeken, Jaak;
- Rymen, Daisy;
- Matthijs, Gert
Publication type:
Article
Haplotype structure and positive selection at TLR1.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 551, doi. 10.1038/ejhg.2013.194
By:
- Heffelfinger, Christopher;
- Pakstis, Andrew J;
- Speed, William C;
- Clark, Allison P;
- Haigh, Eva;
- Fang, Rixun;
- Furtado, Mahohar R;
- Kidd, Kenneth K;
- Snyder, Michael P
Publication type:
Article
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 528, doi. 10.1038/ejhg.2013.175
By:
- Trujillano, Daniel;
- Perez, Belén;
- González, Justo;
- Tornador, Cristian;
- Navarrete, Rosa;
- Escaramis, Georgia;
- Ossowski, Stephan;
- Armengol, Lluís;
- Cornejo, Verónica;
- Desviat, Lourdes R;
- Ugarte, Magdalena;
- Estivill, Xavier
Publication type:
Article
New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 497, doi. 10.1038/ejhg.2013.178
By:
- Lainez, Sergio;
- Schlingmann, Karl Peter;
- van der Wijst, Jenny;
- Dworniczak, Bernd;
- van Zeeland, Femke;
- Konrad, Martin;
- Bindels, René J;
- Hoenderop, Joost G
Publication type:
Article
Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 1.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 00, doi. 10.1038/ejhg.2013.186
By:
- Gonzales, Emmanuel;
- Spraul, Anne;
- Jacquemin, Emmanuel
Publication type:
Article
Consanguineous marriage and reproductive risk: attitudes and understanding of ethnic groups practising consanguinity in Western society.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 452, doi. 10.1038/ejhg.2013.167
By:
- Teeuw, Marieke E;
- Loukili, Ghariba;
- Bartels, Edien AC;
- ten Kate, Leo P;
- Cornel, Martina C;
- Henneman, Lidewij
Publication type:
Article
Incidental findings: the time is not yet ripe for a policy for biobanks.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 437, doi. 10.1038/ejhg.2013.217
By:
- Viberg, Jennifer;
- Hansson, Mats G;
- Langenskiöld, Sophie;
- Segerdahl, Pär
Publication type:
Article
Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 3.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 00, doi. 10.1038/ejhg.2013.188
By:
- Gonzales, Emmanuel;
- Spraul, Anne;
- Jacquemin, Emmanuel
Publication type:
Article
Factors influencing public participation in biobanking.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 445, doi. 10.1038/ejhg.2013.174
By:
- Ahram, Mamoun;
- Othman, Areej;
- Shahrouri, Manal;
- Mustafa, Ebtihal
Publication type:
Article
Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 486, doi. 10.1038/ejhg.2013.165
By:
- Martinez, Hugo R;
- Craigen, William J;
- Ummat, Monika;
- Adesina, Adekunle M;
- Lotze, Timothy E;
- Jefferies, John L
Publication type:
Article
Clinical utility gene card for: Choroideremia.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 00, doi. 10.1038/ejhg.2013.183
By:
- Moosajee, Mariya;
- Ramsden, Simon C;
- Black, Graeme CM;
- Seabra, Miguel C;
- Webster, Andrew R
Publication type:
Article
Variants at IRX4 as prostate cancer expression quantitative trait loci.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 558, doi. 10.1038/ejhg.2013.195
By:
- Xu, Xing;
- Hussain, Wasay M;
- Vijai, Joseph;
- Offit, Kenneth;
- Rubin, Mark A;
- Demichelis, Francesca;
- Klein, Robert J
Publication type:
Article
Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 535, doi. 10.1038/ejhg.2013.181
By:
- Tarabeux, Julien;
- Zeitouni, Bruno;
- Moncoutier, Virginie;
- Tenreiro, Henrique;
- Abidallah, Khadija;
- Lair, Séverine;
- Legoix-Né, Patricia;
- Leroy, Quentin;
- Rouleau, Etienne;
- Golmard, Lisa;
- Barillot, Emmanuel;
- Stern, Marc-Henri;
- Rio-Frio, Thomas;
- Stoppa-Lyonnet, Dominique;
- Houdayer, Claude
Publication type:
Article
Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 517, doi. 10.1038/ejhg.2013.191
By:
- Yasmeen, Saiqa;
- Lund, Katrine;
- De Paepe, Anne;
- De Bie, Sylvia;
- Heiberg, Arvid;
- Silva, João;
- Martins, Márcia;
- Skjørringe, Tina;
- Møller, Lisbeth B
Publication type:
Article
Clinical utility gene card for: von Hippel-Lindau (VHL).
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 00, doi. 10.1038/ejhg.2013.180
By:
- Decker, Jochen;
- Neuhaus, Christine;
- Macdonald, Fiona;
- Brauch, Hiltrud;
- Maher, Eamonn R
Publication type:
Article
Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 492, doi. 10.1038/ejhg.2013.184
By:
- Kwok, Chun T;
- Morris, Alex;
- de Belleroche, Jacqueline S
Publication type:
Article
Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 522, doi. 10.1038/ejhg.2013.190
By:
- Ylikallio, Emil;
- Johari, Mridul;
- Konovalova, Svetlana;
- Moilanen, Jukka S;
- Kiuru-Enari, Sari;
- Auranen, Mari;
- Pajunen, Leila;
- Tyynismaa, Henna
Publication type:
Article
Looking for CDKN1C enhancers.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 442, doi. 10.1038/ejhg.2013.234
By:
- Cerrato, Flavia;
- De Crescenzo, Agostina;
- Riccio, Andrea
Publication type:
Article
Functional analysis of 11 novel GBA alleles.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 511, doi. 10.1038/ejhg.2013.182
By:
- Malini, Erika;
- Grossi, Serena;
- Deganuto, Marta;
- Rosano, Camillo;
- Parini, Rossella;
- Dominisini, Silvia;
- Cariati, Roberta;
- Zampieri, Stefania;
- Bembi, Bruno;
- Filocamo, Mirella;
- Dardis, Andrea
Publication type:
Article
A novel locus for episodic ataxia:UBR4 the likely candidate.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 505, doi. 10.1038/ejhg.2013.173
By:
- Conroy, Judith;
- McGettigan, Paul;
- Murphy, Raymond;
- Webb, David;
- Murphy, Sinéad M;
- McCoy, Blathnaid;
- Albertyn, Christine;
- McCreary, Dara;
- McDonagh, Cara;
- Walsh, Orla;
- Lynch, SallyAnn;
- Ennis, Sean
Publication type:
Article
Clinical utility gene card for: Hypophosphatasia - update 2013.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 00, doi. 10.1038/ejhg.2013.177
By:
- Mornet, Etienne;
- Hofmann, Christine;
- Bloch-Zupan, Agnès;
- Girschick, Hermann;
- Le Merrer, Martine
Publication type:
Article
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 471, doi. 10.1038/ejhg.2013.189
By:
- Doco-Fenzy, Martine;
- Leroy, Camille;
- Schneider, Anouck;
- Petit, Florence;
- Delrue, Marie-Ange;
- Andrieux, Joris;
- Perrin-Sabourin, Laurence;
- Landais, Emilie;
- Aboura, Azzedine;
- Puechberty, Jacques;
- Girard, Manon;
- Tournaire, Magali;
- Sanchez, Elodie;
- Rooryck, Caroline;
- Ameil, Agnès;
- Goossens, Michel;
- Jonveaux, Philippe;
- Lefort, Geneviève;
- Taine, Laurence;
- Cailley, Dorothée
Publication type:
Article
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 480, doi. 10.1038/ejhg.2013.169
By:
- de Brouwer, Arjan PM;
- Nabuurs, Sander B;
- Verhaart, Ingrid EC;
- Oudakker, Astrid R;
- Hordijk, Roel;
- Yntema, Helger G;
- Hordijk-Hos, Jannet M;
- Voesenek, Krysta;
- de Vries, Bert BA;
- van Essen, Ton;
- Chen, Wei;
- Hu, Hao;
- Chelly, Jamel;
- den Dunnen, Johan T;
- Kalscheuer, Vera M;
- Aartsma-Rus, Annemieke M;
- Hamel, Ben CJ;
- van Bokhoven, Hans;
- Kleefstra, Tjitske
Publication type:
Article
Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 464, doi. 10.1038/ejhg.2013.192
By:
- Andersen, Erica F;
- Carey, John C;
- Earl, Dawn L;
- Corzo, Deyanira;
- Suttie, Michael;
- Hammond, Peter;
- South, Sarah T
Publication type:
Article