Works matching IS 10184813 AND DT 2014 AND VI 22 AND IP 11

Results: 21

The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1290, doi. 10.1038/ejhg.2014.21
By:
- Hansen, Lars;
- Comyn, Sophie;
- Mang, Yuan;
- Lind-Thomsen, Allan;
- Myhre, Layne;
- Jean, Francesca;
- Eiberg, Hans;
- Tommerup, Niels;
- Rosenberg, Thomas;
- Pilgrim, David
Publication type:
Article
Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1278, doi. 10.1038/ejhg.2014.30
By:
- Briggs, Michael D;
- Brock, Joanne;
- Ramsden, Simon C;
- Bell, Peter A
Publication type:
Article
Clinical utility gene card for: Dent disease (Dent-1 and Dent-2).
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. e1, doi. 10.1038/ejhg.2014.33
By:
- Ludwig, Michael;
- Levtchenko, Elena;
- Bökenkamp, Arend
Publication type:
Article
Face shape differs in phylogenetically related populations.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1268, doi. 10.1038/ejhg.2013.289
By:
- Hopman, Saskia M J;
- Merks, Johannes H M;
- Suttie, Michael;
- Hennekam, Raoul C M;
- Hammond, Peter
Publication type:
Article
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1272, doi. 10.1038/ejhg.2013.288
By:
- Michot, Caroline;
- Le Goff, Carine;
- Mahaut, Clémentine;
- Afenjar, Alexandra;
- Brooks, Alice S;
- Campeau, Philippe M;
- Destree, Anne;
- Di Rocco, Maja;
- Donnai, Dian;
- Hennekam, Raoul;
- Heron, Delphine;
- Jacquemont, Sébastien;
- Kannu, Peter;
- Lin, Angela E;
- Manouvrier-Hanu, Sylvie;
- Mansour, Sahar;
- Marlin, Sandrine;
- McGowan, Ruth;
- Murphy, Helen;
- Raas-Rothschild, Annick
Publication type:
Article
Public views on participating in newborn screening using genome sequencing.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1248, doi. 10.1038/ejhg.2014.22
By:
- Bombard, Yvonne;
- Miller, Fiona A;
- Hayeems, Robin Z;
- Barg, Carolyn;
- Cressman, Celine;
- Carroll, June C;
- Wilson, Brenda J;
- Little, Julian;
- Avard, Denise;
- Painter-Main, Michael;
- Allanson, Judith;
- Giguere, Yves;
- Chakraborty, Pranesh
Publication type:
Article
Redundant enhancers and causal variants in the TCF7L2 gene.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1243, doi. 10.1038/ejhg.2014.17
By:
- Ruiz-Narváez, Edward A
Publication type:
Article
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1340, doi. 10.1038/ejhg.2014.182
By:
- Michot, Caroline;
- Le Goff, Carine;
- Mahaut, Clémentine;
- Afenjar, Alexandra;
- Brooks, Alice S;
- Campeau, Philippe M;
- Destree, Anne;
- Di Rocco, Maja;
- Donnai, Dian;
- Hennekam, Raoul;
- Heron, Delphine;
- Jacquemont, Sébastien;
- Kannu, Peter;
- Lin, Angela E;
- Manouvrier-Hanu, Sylvie;
- Mansour, Sahar;
- Marlin, Sandrine;
- McGowan, Ruth;
- Murphy, Helen;
- Raas-Rothschild, Annick
Publication type:
Article
Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1321, doi. 10.1038/ejhg.2014.19
By:
- Deelen, Patrick;
- Menelaou, Androniki;
- van Leeuwen, Elisabeth M;
- Kanterakis, Alexandros;
- van Dijk, Freerk;
- Medina-Gomez, Carolina;
- Francioli, Laurent C;
- Hottenga, Jouke Jan;
- Karssen, Lennart C;
- Estrada, Karol;
- Kreiner-Møller, Eskil;
- Rivadeneira, Fernando;
- van Setten, Jessica;
- Gutierrez-Achury, Javier;
- Westra, Harm-Jan;
- Franke, Lude;
- van Enckevort, David;
- Dijkstra, Martijn;
- Byelas, Heorhiy;
- van Duijn, Cornelia M
Publication type:
Article
The future of Clinical Utility Gene Cards in the context of next-generation sequencing diagnostic panels.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1247, doi. 10.1038/ejhg.2014.23
By:
- Dierking, Anna;
- Schmidtke, Jörg
Publication type:
Article
Biallelic MUTYH mutations can mimic Lynch syndrome.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1334, doi. 10.1038/ejhg.2014.15
By:
- Morak, Monika;
- Heidenreich, Barbara;
- Keller, Gisela;
- Hampel, Heather;
- Laner, Andreas;
- de la Chapelle, Albert;
- Holinski-Feder, Elke
Publication type:
Article
Clinical utility gene card for: 15q13.3 microdeletion syndrome.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. e1, doi. 10.1038/ejhg.2014.88
By:
- Tropeano, Maria;
- Andrieux, Joris;
- Vassos, Evangelos;
- Collier, David A
Publication type:
Article
Teeth anomalies and genetics, including genetic syndromes.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1339, doi. 10.1038/ejhg.2014.98
By:
- Lacombe, Didier
Publication type:
Article
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1305, doi. 10.1038/ejhg.2014.16
By:
- Castéra, Laurent;
- Krieger, Sophie;
- Rousselin, Antoine;
- Legros, Angélina;
- Baumann, Jean-Jacques;
- Bruet, Olivia;
- Brault, Baptiste;
- Fouillet, Robin;
- Goardon, Nicolas;
- Letac, Olivier;
- Baert-Desurmont, Stéphanie;
- Tinat, Julie;
- Bera, Odile;
- Dugast, Catherine;
- Berthet, Pascaline;
- Polycarpe, Florence;
- Layet, Valérie;
- Hardouin, Agnes;
- Frébourg, Thierry;
- Vaur, Dominique
Publication type:
Article
A national perspective on prenatal testing for mitochondrial disease.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1255, doi. 10.1038/ejhg.2014.35
By:
- Nesbitt, Victoria;
- Alston, Charlotte L;
- Blakely, Emma L;
- Fratter, Carl;
- Feeney, Catherine L;
- Poulton, Joanna;
- Brown, Garry K;
- Turnbull, Doug M;
- Taylor, Robert W;
- McFarland, Robert
Publication type:
Article
Cell therapy using retinal progenitor cells shows therapeutic effect in a chemically-induced rotenone mouse model of Leber hereditary optic neuropathy.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1314, doi. 10.1038/ejhg.2014.26
By:
- Mansergh, Fiona C;
- Chadderton, Naomi;
- Kenna, Paul F;
- Gobbo, Oliviero L;
- Farrar, G Jane
Publication type:
Article
Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1330, doi. 10.1038/ejhg.2014.20
By:
- Ibrahim, Abdulla;
- Barnes, Daniel R;
- Dunlop, Jacqueline;
- Barrowdale, Daniel;
- Antoniou, Antonis C;
- Berg, Jonathan N
Publication type:
Article
Systematic large-scale study of the inheritance mode of Mendelian disorders provides new insight into human diseasome.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1260, doi. 10.1038/ejhg.2013.309
By:
- Hao, Dapeng;
- Wang, Guangyu;
- Yin, Zuojing;
- Li, Chuanxing;
- Cui, Yan;
- Zhou, Meng
Publication type:
Article
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1298, doi. 10.1038/ejhg.2014.18
By:
- Colombo, Elisa Adele;
- Fontana, Laura;
- Roversi, Gaia;
- Negri, Gloria;
- Castiglia, Daniele;
- Paradisi, Mauro;
- Zambruno, Giovanna;
- Larizza, Lidia
Publication type:
Article
Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1327, doi. 10.1038/ejhg.2014.25
By:
- Vals, Mari-Anne;
- Õiglane-Shlik, Eve;
- Nõukas, Margit;
- Shor, Riina;
- Peet, Aleksandr;
- Kals, Mart;
- Kivistik, Paula Ann;
- Metspalu, Andres;
- Õunap, Katrin
Publication type:
Article
Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1283, doi. 10.1038/ejhg.2014.24
By:
- Bertelsen, Birgitte;
- Melchior, Linea;
- Jensen, Lars R;
- Groth, Camilla;
- Glenthøj, Birte;
- Rizzo, Renata;
- Debes, Nanette Mol;
- Skov, Liselotte;
- Brøndum-Nielsen, Karen;
- Paschou, Peristera;
- Silahtaroglu, Asli;
- Tümer, Zeynep
Publication type:
Article