Works matching IS 10184813 AND DT 2009 AND VI 17 AND IP 11

Results: 26

The difficulty to classify complex dysmorphic syndromes on the ward.

Published in:

2009

By:

Schinzel, Albert

Publication type:

Book Review

Human longevity and 11p15.5: a study in 1321 centenarians.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1515, doi. 10.1038/ejhg.2009.54

By:

Lescai, Francesco;
Blanché, Helene;
Nebel, Almut;
Beekman, Marian;
Sahbatou, Mourad;
Flachsbart, Friederike;
Slagboom, Eline;
Schreiber, Stefan;
Sorbi, Sandro;
Passarino, Giuseppe;
Franceschi, Claudio

Publication type:

Article

Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to child.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1403, doi. 10.1038/ejhg.2009.56

By:

De Rademaeker, Marjan;
Verpoest, Willem;
De Rycke, Martine;
Seneca, Sara;
Sermon, Karen;
Desmyttere, Sonja;
Bonduelle, Maryse;
Van der Elst, Josianne;
Devroey, Paul;
Liebaers, Inge

Publication type:

Article

J1-M267 Y lineage marks climate-driven pre-historical human displacements.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1520, doi. 10.1038/ejhg.2009.58

By:

Tofanelli, Sergio;
Ferri, Gianmarco;
Bulayeva, Kazima;
Caciagli, Laura;
Onofri, Valerio;
Taglioli, Luca;
Bulayev, Oleg;
Boschi, Ilaria;
Alù, Milena;
Berti, Andrea;
Rapone, Cesare;
Beduschi, Giovanni;
Luiselli, Donata;
Cadenas, Alicia M.;
Awadelkarim, Khalid Dafaallah;
Mariani-Costantini, Renato;
Elwali, Nasr Eldin;
Verginelli, Fabio;
Pilli, Elena;
Herrera, Rene J.

Publication type:

Article

JEAN B DAUSSET, 19 OCTOBER 1916–6 JUNE 2009.

Published in:

2009

By:

Mandel, Jean-Louis;
Lathrop, Mark;
Cann, Howard M.

Publication type:

Obituary

Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome.

Published in:

2009

By:

Rand-Hendriksen, Svend;
Lundby, Rigmor;
Tjeldhorn, Lena;
Andersen, Kai;
Offstad, Jon;
Semb, Svein Ove;
Smith, Hans-Jørgen;
Paus, Benedicte;
Geiran, Odd

Publication type:

Correction Notice

A heterozygote–homozygote test of Hardy–Weinberg equilibrium.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1495, doi. 10.1038/ejhg.2009.57

By:

Zhou, Jin J.;
Lange, Kenneth;
Papp, Jeanette C.;
Sinsheimer, Janet S.

Publication type:

Article

Risk-reducing surgery for ovarian cancer: outcomes in 300 surgeries suggest a low peritoneal primary risk.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1381, doi. 10.1038/ejhg.2009.60

By:

Evans, D. Gareth R.;
Clayton, Richard;
Donnai, Paul;
Shenton, Andrew;
Lalloo, Fiona

Publication type:

Article

Angelman syndrome (AS, MIM 105830).

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1367, doi. 10.1038/ejhg.2009.67

By:

Van Buggenhout, Griet;
Fryns, Jean-Pierre

Publication type:

Article

Phosphodiesterase 4D and 5-lipoxygenase activating protein genes and risk of ischemic stroke in Sardinians.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1448, doi. 10.1038/ejhg.2009.71

By:

Quarta, Giovanni;
Stanzione, Rosita;
Evangelista, Anna;
Zanda, Bastianina;
Di Angelantonio, Emanuele;
Marchitti, Simona;
Di Castro, Sara;
Di Vavo, Marta;
Volpe, Massimo;
Rubattu, Speranza

Publication type:

Article

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1432, doi. 10.1038/ejhg.2009.72

By:

van Silfhout, Anneke T.;
van den Akker, Peter C.;
Dijkhuizen, Trijnie;
Verheij, Joke B. G. M.;
Olderode-Berends, Maran J. W.;
Kok, Klaas;
Sikkema-Raddatz, Birgit;
van Ravenswaaij-Arts, Conny M. A.

Publication type:

Article

Diagnostic value of post-heparin lipase testing in detecting common genetic variants in the LPL and LIPC genes.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1386, doi. 10.1038/ejhg.2009.61

By:

van Hoek, Mandy;
Dallinga-Thie, Geesje M.;
Steyerberg, Ewout W.;
Sijbrands, Eric J. G.

Publication type:

Article

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1394, doi. 10.1038/ejhg.2009.74

By:

Gijsbers, Antoinet C. J.;
Lew, Janet Y. K.;
Bosch, Cathy A. J.;
Schuurs-Hoeijmakers, Janneke H. M.;
van Haeringen, Arie;
den Hollander, Nicolette S.;
Kant, Sarina G.;
Bijlsma, Emilia K.;
Breuning, Martijn H.;
Bakker, Egbert;
Ruivenkamp, Claudia A. L.

Publication type:

Article

The role of mitochondrial genome in essential hypertension in a Chinese Han population.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1501, doi. 10.1038/ejhg.2009.63

By:

Hai-Yan Zhu;
Shi-Wen Wang;
Martin, Lisa J.;
Li Liu;
Yan-Hua Li;
Rui Chen;
Lin Wang;
Min-Lu Zhang;
Benson, D. Woodrow

Publication type:

Article

Functional identification of the promoter of SLC4A5, a gene associated with cardiovascular and metabolic phenotypes in the HERITAGE Family Study.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1481, doi. 10.1038/ejhg.2009.64

By:

Stütz, Adrian M.;
Teran-Garcia, Margarita;
Rao, D. C.;
Rice, Treva;
Bouchard, Claude;
Rankinen, Tuomo

Publication type:

Article

Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1411, doi. 10.1038/ejhg.2009.76

By:

Plancke, Aurélie;
Holder-Espinasse, Muriel;
Rigau, Valérie;
Manouvrier, Sylvie;
Claustres, Mireille;
Van Kien, Philippe Khau

Publication type:

Article

Isolated populations as treasure troves in genetic epidemiology: the case of the Basques.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1490, doi. 10.1038/ejhg.2009.69

By:

Garagnani, Paolo;
Laayouni, Hafid;
González-Neira, Anna;
Sikora, Martin;
Luiselli, Donata;
Bertranpetit, Jaume;
Calafell, Francesc

Publication type:

Article

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1439, doi. 10.1038/ejhg.2009.70

By:

Barbaro, Michela;
Balsamo, Antonio;
Anderlid, Britt Marie;
Myhre, Anne Grethe;
Gennari, Monia;
Nicoletti, Annalisa;
Pittalis, Maria Carla;
Oscarson, Mikael;
Wedell, Anna

Publication type:

Article

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1471, doi. 10.1038/ejhg.2009.89

By:

Caux-Moncoutier, Virginie;
Pagès-Berhouet, Sabine;
Michaux, Dorothée;
Asselain, Bernard;
Castéra, Laurent;
De Pauw, Antoine;
Buecher, Bruno;
Gauthier-Villars, Marion;
Stoppa-Lyonnet, Dominique;
Houdayer, Claude

Publication type:

Article

A critical assessment of the factors affecting reporter gene assays for promoter SNP function: a reassessment of −308 TNF polymorphism function using a novel integrated reporter system.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1454, doi. 10.1038/ejhg.2009.80

By:

Karimi, Mahdad;
Goldie, Lauren C.;
Cruickshank, Mark N.;
Moses, Eric K.;
Abraham, Lawrence J.

Publication type:

Article

Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1378, doi. 10.1038/ejhg.2009.82

By:

Fichou, Yann;
Bahi-Buisson, Nadia;
Nectoux, Juliette;
Chelly, Jamel;
Héron, Delphine;
Cuisset, Laurence;
Bienvenu, Thierry

Publication type:

Article

Expression of SNURF–SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1463, doi. 10.1038/ejhg.2009.83

By:

Wawrzik, Michaela;
Spiess, Andrej-Nikolai;
Herrmann, Ralf;
Buiting, Karin;
Horsthemke, Bernhard

Publication type:

Article

Novel SOX2 partner-factor domain mutation in a four-generation family.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1417, doi. 10.1038/ejhg.2009.79

By:

Mihelec, Marija;
Abraham, Peter;
Gibson, Kate;
Krowka, Renata;
Susman, Rachel;
Storen, Rebecca;
Yongjuan Chen;
Donald, Jenny;
Tam, Patrick P. L.;
Grigg, John R.;
Flaherty, Maree;
Gole, Glen A.;
Jamieson, Robyn V.

Publication type:

Article

Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1423, doi. 10.1038/ejhg.2009.91

By:

Gill, Harinder K.;
Parsons, Sian R.;
Spalluto, Cosma;
Davies, Angela F.;
Knorz, Victoria J.;
Burlinson, Clare E. G.;
Bee Ling Ng;
Carter, Nigel P.;
Ogilvie, Caroline Mackie;
Wilson, David I.;
Roberts, Roland G.

Publication type:

Article

A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1507, doi. 10.1038/ejhg.2009.92

By:

Webb, Emily;
Broderick, Peter;
Lubbe, Steven;
Chandler, Ian;
Tomlinson, Ian;
Houlston, Richard S.

Publication type:

Article

Council of Europe adopts protocol on genetic testing for health purposes.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1374, doi. 10.1038/ejhg.2009.84

By:

Lwoff, Laurence

Publication type:

Article