Works matching IS 10184813 AND DT 2008 AND VI 16

Results: 230

What process attributes of clinical genetics services could maximise patient benefits?

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1467, doi. 10.1038/ejhg.2008.121

By:

McAllister, Marion;
Payne, Katherine;
MacLeod, Rhona;
Nicholls, Stuart;
Donnai, Dian;
Davies, Linda

Publication type:

Article

Replication of the Wellcome Trust genome-wide association study of essential hypertension: the Family Blood Pressure Program.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1507, doi. 10.1038/ejhg.2008.102

By:

Ehret, Georg B.;
Morrison, Alanna C.;
O'Connor, Ashley A.;
Grove, Megan L.;
Baird, Lisa;
Schwander, Karen;
Weder, Alan;
Cooper, Richard S.;
Rao, D. C.;
Hunt, Steven C.;
Boerwinkle, Eric;
Chakravarti, Aravinda

Publication type:

Article

Genetic diversity patterns at the human clock gene period 2 are suggestive of population-specific positive selection.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1526, doi. 10.1038/ejhg.2008.105

By:

Cruciani, Fulvio;
Trombetta, Beniamino;
Labuda, Damian;
Modiano, David;
Torroni, Antonio;
Costa, Rodolfo;
Scozzari, Rosaria

Publication type:

Article

Genome-wide linkage analysis for identifying quantitative trait loci involved in the regulation of lipoprotein a (Lpa) levels.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1372, doi. 10.1038/ejhg.2008.114

By:

López, Sonia;
Buil, Alfonso;
Ordoñez, Jordi;
Souto, Juan Carlos;
Almasy, Laura;
Lathrop, Mark;
Blangero, John;
Blanco-Vaca, Francisco;
Fontcuberta, Jordi;
Soria, José Manuel

Publication type:

Article

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1430, doi. 10.1038/ejhg.2008.110

By:

Collin, Rob W. J.;
de Heer, Anne-Martine R.;
Oostrik, Jaap;
Pauw, Robert-Jan;
Plantinga, Rutger F.;
Huygen, Patrick L.;
Admiraal, Ronald;
de Brouwer, Arjan P. M.;
Strom, Tim M.;
Cremers, Cor W. R. J.;
Kremer, Hannie

Publication type:

Article

Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1443, doi. 10.1038/ejhg.2008.119

By:

Bonaglia, Maria Clara;
Ciccone, Roberto;
Gimelli, Giorgio;
Gimelli, Stefania;
Marelli, Susan;
Verheij, Joke;
Giorda, Roberto;
Grasso, Rita;
Borgatti, Renato;
Pagone, Filomena;
Rodrìguez, Laura;
Martinez-Frias, Maria-Luisa;
van Ravenswaaij, Conny;
Zuffardi, Orsetta

Publication type:

Article

Array-based comparative genomic hybridization of mapped BAC DNA clones to screen for chromosome 14 copy number abnormalities in meningiomas.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1450, doi. 10.1038/ejhg.2008.128

By:

Espinosa, Ana Belén;
Mackintosh, Carlos;
Maíllo, Angel;
Gutierrez, Laura;
Sousa, Pablo;
Merino, Marta;
Ortiz, Javier;
de Alava, Enrique;
Orfao, Alberto;
Tabernero, María Dolores

Publication type:

Article

Influence of MUC1 genetic variation on prostate cancer risk and survival.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1521, doi. 10.1038/ejhg.2008.131

By:

Strawbridge, Rona J.;
Nister, Monica;
Brismar, Kerstin;
Chunde Li;
Lindström, Sara

Publication type:

Article

Predicting the number and sizes of IBD regions among family members and evaluating the family size requirement for linkage studies.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1535, doi. 10.1038/ejhg.2008.116

By:

Wanling Yang;
Zhanyong Wang;
Lusheng Wang;
Pak-Chung Sham;
Peng Huang;
Yu Lung Lau

Publication type:

Article

Familial aggregation of preeclampsia and intrauterine growth restriction in a genetically isolated population in The Netherlands.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1437, doi. 10.1038/ejhg.2008.118

By:

Berends, Anne L.;
Steegers, Eric A.;
Isaacs, Aaron;
Aulchenko, Y. S.;
Fan Liu;
de Groot, Christianne J.;
Oostra, Ben A.;
van Duijn, Cornelia M.

Publication type:

Article

Deciphering the genetics of hereditary non-syndromic colorectal cancer.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1477, doi. 10.1038/ejhg.2008.129

By:

Papaemmanuil, Eli;
Carvajal-Carmona, Luis;
Sellick, Gabrielle S.;
Kemp, Zoe;
Webb, Emily;
Spain, Sarah;
Sullivan, Kate;
Barclay, Ella;
Lubbe, Steven;
Jaeger, Emma;
Vijayakrishnan, Jayaram;
Broderick, Peter;
Gorman, Maggie;
Martin, Lynn;
Lucassen, Anneke;
Bishop, D. Timothy;
Evans, D. Gareth;
Maher, Eamonn R.;
Steinke, Verena;
Rahner, Nils

Publication type:

Article

Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1499, doi. 10.1038/ejhg.2008.132

By:

Koehler, Katrin;
Brockmann, Knut;
Krumbholz, Manuela;
Kind, Barbara;
Bönnemann, Carsten;
Gärtner, Jutta;
Huebner, Angela

Publication type:

Article

Haplotypic analysis of tag SNPs of the interleukin-18 gene in relation to cardiovascular disease events: the MORGAM Project.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1512, doi. 10.1038/ejhg.2008.127

By:

Grisoni, Marie-Lise;
Proust, Carole;
Alanne, Mervi;
DeSuremain, Maylis;
Salomaa, Veikko;
Kuulasmaa, Kari;
Cambien, François;
Nicaud, Viviane;
Stegmayr, Birgitta;
Virtamo, Jarmo;
Shields, Denis;
Kee, Frank;
Tiret, Laurence;
Evans, Alun;
Tregouet, David-Alexandre

Publication type:

Article

Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1487, doi. 10.1038/ejhg.2008.130

By:

Tabolacci, Elisabetta;
Moscato, Umberto;
Zalfa, Francesca;
Bagni, Claudia;
Chiurazzi, Pietro;
Neri, Giovanni

Publication type:

Article

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1311, doi. 10.1038/ejhg.2008.109

By:

Filoni, Camilla;
Caciotti, Anna;
Carraresi, Laura;
Donati, Maria Alice;
Mignani, Renzo;
Parini, Rossella;
Filocamo, Mirella;
Soliani, Fausto;
Simi, Lisa;
Guerrini, Renzo;
Zammarchi, Enrico;
Morrone, Amelia

Publication type:

Article

Identification of human haploinsufficient genes and their genomic proximity to segmental duplications.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1350, doi. 10.1038/ejhg.2008.111

By:

Dang, Vinh T.;
Kassahn, Karin S.;
Marcos, Andrés Esteban;
Ragan, Mark A.

Publication type:

Article

The copy number variant involving part of the α7 nicotinic receptor gene contains a polymorphic inversion.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1364, doi. 10.1038/ejhg.2008.112

By:

Flomen, Rachel H.;
Davies, Angela F.;
Di Forti, Marta;
La Cascia, Caterina;
Mackie-Ogilvie, Caroline;
Murray, Robin;
Makoff, Andrew J.

Publication type:

Article

Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1459, doi. 10.1038/ejhg.2008.134

By:

Pasmant, Eric;
de Saint-Trivier, Aurélie;
Laurendeau, Ingrid;
Dieux-Coeslier, Anne;
Parfait, Béatrice;
Vidaud, Michel;
Vidaud, Dominique;
Bièche, Ivan

Publication type:

Article

Investigation of the fine structure of European populations with applications to disease association studies.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1413, doi. 10.1038/ejhg.2008.210

By:

Heath, Simon C.;
Gut, Ivo G.;
Brennan, Paul;
McKay, James D.;
Bencko, Vladimir;
Fabianova, Eleonora;
Foretova, Lenka;
Georges, Michel;
Janout, Vladimir;
Kabesch, Michael;
Krokan, Hans E.;
Elvestad, Maiken B.;
Lissowska, Jolanta;
Mates, Dana;
Rudnai, Peter;
Skorpen, Frank;
Schreiber, Stefan;
Soria, José M.;
Syvänen, Ann-Christine;
Meneton, Pierre

Publication type:

Article

Testing replication of a 5-SNP set for general cognitive ability in six population samples.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1388, doi. 10.1038/ejhg.2008.100

By:

Luciano, Michelle;
Lind, Penelope A.;
Deary, Ian J.;
Payton, Antony;
Posthuma, Danielle;
Butcher, Lee M.;
Bochdanovits, Zoltan;
Whalley, Lawrence J.;
Visscher, Peter M.;
Harris, Sarah E.;
Polderman, Tinca J. C.;
Davis, Oliver S. P.;
Wright, Margaret J.;
Starr, John M.;
de Geus, Eco J. C.;
Bates, Timothy C.;
Montgomery, Grant W.;
Boomsma, Dorret I.;
Martin, Nicholas G.;
Plomin, Robert

Publication type:

Article

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1358, doi. 10.1038/ejhg.2008.103

By:

Rejeb, Imen;
Saillour, Yoann;
Castelnau, Laetitia;
Julien, Cédric;
Bienvenu, Thierry;
Taga, Patricia;
Chaabouni, Habiba;
Chelly, Jamel;
Jemaa, Lamia Ben;
Bahi-Buisson, Nadia

Publication type:

Article

Gene–environment interactions for complex traits: definitions, methodological requirements and challenges.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1164, doi. 10.1038/ejhg.2008.106

By:

Dempfle, Astrid;
Scherag, André;
Hein, Rebecca;
Beckmann, Lars;
Chang-Claude, Jenny;
Schäfer, Helmut

Publication type:

Article

Health first, genetics second: exploring families' experiences of communicating genetic information.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1329, doi. 10.1038/ejhg.2008.104

By:

Forrest, Laura E.;
Curnow, Lisette;
Delatycki, Martin B.;
Skene, Loane;
Aitken, MaryAnne

Publication type:

Article

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1301, doi. 10.1038/ejhg.2008.107

By:

Wilson, Heather L.;
Crolla, John A.;
Walker, Dena;
Artifoni, Lina;
Dallapiccola, Bruno;
Takano, Takako;
Vasudevan, Pradeep;
Shuwen Huang;
Maloney, Vivienne;
Yobb, Twila;
Quarrell, Oliver;
McDermid, Heather E.

Publication type:

Article

Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1407, doi. 10.1038/ejhg.2008.108

By:

Verschuuren-Bemelmans, Corien C.;
Winter, Pia;
Sival, Deborah A.;
Elting, Jan-Willem;
Brouwer, Oebele F.;
Müller, Ulrich

Publication type:

Article

Comprehensive association analyses of IGF1, ESR2, and CYP17 genes with adult height in Caucasians.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1380, doi. 10.1038/ejhg.2008.113

By:

Tie-Lin Yang;
Dong-Hai Xiong;
Yan Guo;
Recker, Robert R.;
Hong-Wen Deng

Publication type:

Article

The use of common mitochondrial variants to detect and characterise population structure in the Australian population: implications for genome-wide association studies.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1396, doi. 10.1038/ejhg.2008.117

By:

Byrne, Enda M.;
McRae, Allan F.;
Zhen-Zhen Zhao;
Martin, Nicholas G.;
Montgomery, Grant W.;
Visscher, Peter M.

Publication type:

Article

Twenty-year trends in prevalence and survival of Down syndrome.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1336, doi. 10.1038/ejhg.2008.122

By:

Irving, Claire;
Basu, Anna;
Richmond, Sam;
Burn, John;
Wren, Christopher

Publication type:

Article

Northwest Siberian Khanty and Mansi in the junction of West and East Eurasian gene pools as revealed by uniparental markers.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1254, doi. 10.1038/ejhg.2008.101

By:

Pimenoff, Ville N.;
Comas, David;
Palo, Jukka U.;
Vershubsky, Galina;
Kozlov, Andrew;
Sajantila, Antti

Publication type:

Article

Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1404, doi. 10.1038/ejhg.2008.135

By:

van Gijn, Marielle E.;
Soler, Stéphan;
de la Chapelle, Claire;
Mulder, Marcel;
Ritorre, Cécile;
Kriek, Marjolein;
Philibert, Laurent;
van der Wielen, Michiel;
Frenkel, Joost;
Grandemange, Sylvie;
Bakker, Egbert;
van Amstel, Johannes K. Ploos;
Touitou, Isabelle

Publication type:

Article

A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1050, doi. 10.1038/ejhg.2008.58

By:

Breckpot, Jeroen;
Takiyama, Yoshihisa;
Thienpont, Bernard;
Van Vooren, Steven;
Vermeesch, Joris Robert;
Ortibus, Els;
Devriendt, Koenraad

Publication type:

Article

The effect of pedigree structure on detection of deletions and other null alleles.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1225, doi. 10.1038/ejhg.2008.75

By:

Johansson, Anna M.;
Säll, Torbjörn

Publication type:

Article

The polymorphisms of protein-tyrosine phosphatase receptor-type delta gene and its association with pediatric asthma in the Taiwanese population.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1283, doi. 10.1038/ejhg.2008.79

By:

Shyh-Dar Shyur;
Jiu-Yao Wang;
Cherry Guan-Ju Lin;
Ya-Hsin Hsiao;
Ya-Huei Liou;
Ying-Jye Wu;
Lawrence Shih-Hsin Wu

Publication type:

Article

PTEN hamartoma tumor syndromes.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1289, doi. 10.1038/ejhg.2008.162

By:

Blumenthal, Gideon M.;
Dennis, Phillip A.

Publication type:

Article

Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1318, doi. 10.1038/ejhg.2008.78

By:

Lybæk, Helle;
Meza-Zepeda, Leonardo A.;
Kresse, Stine H.;
Høysæter, Trude;
Steen, Vidar M.;
Houge, Gunnar

Publication type:

Article

Genetic origin of the Swedish Sami inferred from HLA class I and class II allele frequencies.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1341, doi. 10.1038/ejhg.2008.88

By:

Johansson, Åsa;
Ingman, Max;
Mack, Steven J.;
Erlich, Henry;
Gyllensten, Ulf

Publication type:

Article

Victor McKusick, 1921–2008: the founder of medical genetics as we know it.

Published in:

2008

By:

Romeo, Giovanni

Publication type:

Obituary

Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1208, doi. 10.1038/ejhg.2008.93

By:

Rantanen, Elina;
Hietala, Marja;
Kristoffersson, Ulf;
Nippert, Irmgard;
Schmidtke, Jörg;
Sequeiros, Jorge;
Kääriäinen, Helena

Publication type:

Article

Patenting and licensing in genetic testing: Recommendations of the European Society of Human Genetics.

Published in:: European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1159, doi. 10.1038/ejhg.2008.123
Publication type:: Article

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1265, doi. 10.1038/ejhg.2008.65

By:

Swalwell, Helen;
Blakely, Emma L.;
Sutton, Ruth;
Tonska, Kasia;
Elstner, Matthias;
Langping He;
Taivassalo, Tanja;
Burns, Dennis K.;
Turnbull, Douglass M.;
Haller, Ronald G.;
Davidson, Mercy M.;
Taylor, Robert W.

Publication type:

Article

Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1187, doi. 10.1038/ejhg.2008.71

By:

Castermans, Dries;
Thienpont, Bernard;
Volders, Karolien;
Crepel, An;
Vermeesch, Joris R.;
Schrander-Stumpel, Connie T.;
Van de Ven, Wim J. M.;
Steyaert, Jean G.;
Creemers, John W. M.;
Devriendt, Koen

Publication type:

Article

A missense mutation in ALDH18A1, encoding Δ<sup>1</sup>-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1176, doi. 10.1038/ejhg.2008.91

By:

Bicknell, Louise S.;
Pitt, James;
Aftimos, Salim;
Ramadas, Ram;
Maw, Marion A.;
Robertson, Stephen P.

Publication type:

Article

Confirmation of the genetic association between the U2AF homology motif (UHM) kinase 1 (UHMK1) gene and schizophrenia on chromosome 1q23.3.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1275, doi. 10.1038/ejhg.2008.76

By:

Puri, Vinay;
McQuillin, Andrew;
Datta, Susmita;
Choudhury, Khalid;
Pimm, Jonathan;
Thirumalai, Srinivasa;
Krasucki, Robert;
Lawrence, Jacob;
Quested, Digby;
Bass, Nicholas;
Crombie, Caroline;
Fraser, Gillian;
Walker, Nicholas;
Moorey, Helen;
Ray, Manaan Kar;
Sule, Akeem;
Curtis, David;
St Clair, David;
Gurling, Hugh

Publication type:

Article

Frequent mutations in the 3′-untranslated region of IFNGR1 lack functional impairment in microsatellite-unstable colorectal tumours.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1235, doi. 10.1038/ejhg.2008.81

By:

Dierssen, Jan Willem F.;
van Puijenbroek, Marjo;
Dezentjé, David A.;
Fleuren, Gert Jan;
Cornelisse, Cees J.;
van Wezel, Tom;
Offringa, Rienk;
Morreau, Hans

Publication type:

Article

An Internet-based external quality assessment in cytogenetics that audits a laboratory's analytical and interpretative performance.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1217, doi. 10.1038/ejhg.2008.82

By:

Hastings, Rosalind J.;
Maher, Eddy J.;
Quellhorst-Pawley, Bettina;
Howell, Rodney T.

Publication type:

Article

Is paternal age playing a role in the changing prevalence of Klinefelter syndrome?

Published in:

2008

By:

Herlihy, Amy S;
Halliday, Jane

Publication type:

Letter

Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1240, doi. 10.1038/ejhg.2008.83

By:

Bongers, Ernie M. H. F.;
de Wijs, Ilse J.;
Marcelis, Carlo;
Hoefsloot, Lies H.;
Knoers, Nine V. A. M.

Publication type:

Article

Family communication between children and their parents about inherited genetic conditions: a meta-synthesis of the research.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1193, doi. 10.1038/ejhg.2008.84

By:

Metcalfe, Alison;
Coad, Jane;
Plumridge, Gill M;
Gill, Paramjit;
Farndon, Peter

Publication type:

Article

A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1245, doi. 10.1038/ejhg.2008.85

By:

Horvath, Anelia;
Giatzakis, Christoforos;
Tsang, Kitman;
Greene, Elizabeth;
Osorio, Paulo;
Boikos, Sosipatros;
Libè, Rossella;
Patronas, Yianna;
Robinson-White, Audrey;
Remmers, Elaine;
Bertherat, Jerôme;
Nesterova, Maria;
Stratakis, Constantine A.

Publication type:

Article

Reply to Nothnagel et al.

Published in:

2008

By:

van Ommen, Gert Jan B

Publication type:

Letter