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Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 420, doi. 10.1038/ejhg.2008.188
By:
- Neumann, Thomas E.;
- Allanson, Judith;
- Kavamura, Ines;
- Kerr, Bronwyn;
- Neri, Giovanni;
- Noonan, Jacqueline;
- Cordeddu, Viviana;
- Gibson, Kate;
- Tzschach, Andreas;
- Krüger, Gabriele;
- Hoeltzenbein, Maria;
- Goecke, Timm O.;
- Kehl, Hans Gerd;
- Albrecht, Beate;
- Luczak, Klaudiusz;
- Sasiadek, Maria M;
- Musante, Luciana;
- Laurie, Rohan;
- Peters, Hartmut;
- Tartaglia, Marco
Publication type:
Article
Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 417, doi. 10.1038/ejhg.2008.190
By:
- Stuhrmann, Manfred;
- Brakensiek, Kai;
- Argyriou, Loukas;
- Boehm, Ingolf;
- Hinderhofer, Katrin;
- Bauer, Ingrid;
- Rhode, Britta M;
- Maelzer, Madeleine;
- Zuehlke, Christine;
- Krueger, Gabriele;
- Schmidtke, Joerg
Publication type:
Article
Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 483, doi. 10.1038/ejhg.2008.191
By:
- Griseri, Paola;
- Vos, Yvonne;
- Giorda, Roberto;
- Gimelli, Stefania;
- Beri, Silvana;
- Santamaria, Giuseppe;
- Mognato, Guendalina;
- Hofstra, Robert M. W.;
- Gimelli, Giorgio;
- Ceccherini, Isabella
Publication type:
Article
Promoter polymorphism of matrilin-1 gene predisposes to adolescent idiopathic scoliosis in a Chinese population.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 525, doi. 10.1038/ejhg.2008.203
By:
- Zhijun Chen;
- Tang, Nelson L. S.;
- Xingbin Cao;
- Di Qiao;
- Long Yi;
- Cheng, Jack C. Y.;
- Yong Qiu
Publication type:
Article
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 491, doi. 10.1038/ejhg.2008.207
By:
- Faivre, L.;
- Collod-Beroud, G.;
- Callewaert, B.;
- Child, A.;
- Binquet, C.;
- Gautier, E.;
- Loeys, B. .L;
- Arbustini, E.;
- Mayer, K.;
- Arslan-Kirchner, M.;
- Stheneur, C.;
- Kiotsekoglou, A.;
- Comeglio, P.;
- Marziliano, N.;
- Wolf, J. E.;
- Bouchot, O.;
- Khau-Van-Kien, P.;
- Beroud, C.;
- Claustres, M.;
- Bonithon-Kopp, C.
Publication type:
Article
Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 474, doi. 10.1038/ejhg.2008.167
By:
- Hmani-Aifa, Mounira;
- Benzina, Zeineb;
- Zulfiqar, Fareeha;
- Dhouib, Houria;
- Shahzadi, Amber;
- Ghorbel, Abdelmonem;
- Rebaï, Ahmed;
- Söderkvist, Peter;
- Riazuddin, Sheikh;
- Kimberling, William J.;
- Ayadi, Hammadi
Publication type:
Article
Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 502, doi. 10.1038/ejhg.2008.179
By:
- Mani, Ram Shankar;
- Ganapathy, Aparna;
- Jalvi, Rajeev;
- Srikumari Srisailapathy, C. R.;
- Malhotra, Vikas;
- Chadha, Shelly;
- Agarwal, Arun;
- Ramesh, Arabandi;
- Rangasayee, Raghunath Rao;
- Anand, Anuranjan
Publication type:
Article
Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 467, doi. 10.1038/ejhg.2008.197
By:
- Alders, Marielle;
- Bliek, Jet;
- vd Lip, Karin;
- vd Bogaard, Ruud;
- Mannens, Marcel
Publication type:
Article
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 517, doi. 10.1038/ejhg.2008.201
By:
- Hilgert, Nele;
- Huentelman, Matthew J.;
- Thorburn, Ashley Q.;
- Fransen, Erik;
- Dieltjens, Nele;
- Mueller-Malesinska, Malgorzata;
- Pollak, Agnieszka;
- Skorka, Agata;
- Waligora, Jaroslaw;
- Ploski, Rafal;
- Castorina, Pierangela;
- Primignani, Paola;
- Ambrosetti, Umberto;
- Murgia, Alessandra;
- Orzan, Eva;
- Pandya, Arti;
- Arnos, Kathleen;
- Norris, Virginia;
- Seeman, Pavel;
- Janousek, Petr
Publication type:
Article
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 434, doi. 10.1038/ejhg.2008.192
By:
- Clayton-Smith, Jill;
- Walters, Sarah;
- Hobson, Emma;
- Burkitt-Wright, Emma;
- Smith, Rupert;
- Toutain, Annick;
- Amiel, Jeanne;
- Lyonnet, Stanislas;
- Mansour, Sahar;
- Fitzpatrick, David;
- Ciccone, Roberto;
- Ricca, Ivana;
- Zuffardi, Orsetta;
- Donnai, Dian
Publication type:
Article
Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 426, doi. 10.1038/ejhg.2008.195
By:
- Bonaglia, Maria Clara;
- Giorda, Roberto;
- Beri, Silvana;
- Bigoni, Stefania;
- Sensi, Alberto;
- Baroncini, Anna;
- Capucci, Antonella;
- De Agostini, Cristina;
- Gwilliam, Rhian;
- Deloukas, Panos;
- Dunham, Ian;
- Zuffardi, Orsetta
Publication type:
Article
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 444, doi. 10.1038/ejhg.2008.208
By:
- Lugtenberg, Dorien;
- Kleefstra, Tjitske;
- Oudakker, Astrid R.;
- Nillesen, Willy M.;
- Yntema, Helger G.;
- Tzschach, Andreas;
- Raynaud, Martine;
- Rating, Dietz;
- Journel, Hubert;
- Chelly, Jamel;
- Goizet, Cyril;
- Lacombe, Didier;
- Pedespan, Jean-Michel;
- Echenne, Bernard;
- Tariverdian, Gholamali;
- O'Rourke, Declan;
- King, Mary D;
- Green, Andrew;
- van Kogelenberg, Margriet;
- Van Esch, Hilde
Publication type:
Article
Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 454, doi. 10.1038/ejhg.2008.214
By:
- Lyle, Robert;
- Béna, Frédérique;
- Gagos, Sarantis;
- Gehrig, Corinne;
- Lopez, Gipsy;
- Schinzel, Albert;
- Lespinasse, James;
- Bottani, Armand;
- Dahoun, Sophie;
- Taine, Laurence;
- Doco-Fenzy, Martine;
- Cornillet-Lefèbvre, Pascale;
- Pelet, Anna;
- Lyonnet, Stanislas;
- Toutain, Annick;
- Colleaux, Laurence;
- Horst, Jürgen;
- Kennerknecht, Ingo;
- Wakamatsu, Nobuaki;
- Descartes, Maria
Publication type:
Article
Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 537, doi. 10.1038/ejhg.2008.209
By:
- Camajova, Jana;
- Berwouts, Sarah;
- Matthijs, Gert;
- Macek, Milan;
- Dequeker, Elisabeth
Publication type:
Article
GENESTAT: an information portal for design and analysis of genetic association studies.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 533, doi. 10.1038/ejhg.2008.216
By:
- Ripatti, Samuli;
- Becker, Tim;
- Bickeböller, Heike;
- Dominicus, Annica;
- Fischer, Christine;
- Humphreys, Keith;
- Jonasdottir, Gudrun;
- Moreau, Yves;
- Olsson, Marita;
- Ploner, Alexander;
- Sheehan, Nuala;
- Van Steen, Kristel;
- Baur, Max;
- van Duijn, Cornelia;
- Palmgren, Juni
Publication type:
Article
Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 510, doi. 10.1038/ejhg.2008.219
By:
- Feng Xiong;
- Jianjun Gao;
- Jun Li;
- Yun Liu;
- Guoyin Fe2g;
- Wenli Fang;
- Hongfen Chang;
- Jiang Xie;
- Haitao Zheng;
- Tingyu Li;
- Lin He
Publication type:
Article
When good CF tests go bad.
Published in:
2009
By:
- Devitt, Trudi Mc;
- Barton, David
Publication type:
Opinion
Nephronophthisis.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 406, doi. 10.1038/ejhg.2008.238
By:
- Simms, Roslyn J.;
- Eley, Lorraine;
- Sayer, John A.
Publication type:
Article

Found: 18