Works matching IS 10184813 AND DT 2009 AND VI 17 AND IP 9

Results: 17

Direct to consumer genetic tests.

Published in:

2009

By:

Patch, Christine;
Sequeiros, Jorge;
Cornel, Martina C.

Publication type:

Correction Notice

16p subtelomeric duplication: a clinically recognizable syndrome.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1135, doi. 10.1038/ejhg.2009.14

By:

Digilio, Maria Cristina;
Bernardini, Laura;
Capalbo, Anna;
Capolino, Rossella;
Gagliardi, Maria Giulia;
Marino, Bruno;
Novelli, Antonio;
Dallapiccola, Bruno

Publication type:

Article

Assessment of transmission distortion on chromosome 6p in healthy individuals using tagSNPs.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1182, doi. 10.1038/ejhg.2009.16

By:

Santos, Pablo Sandro Carvalho;
Höhne, Johannes;
Schlattmann, Peter;
König, Inke R.;
Ziegler, Andreas;
Uchanska-Ziegler, Barbara

Publication type:

Article

Does δ-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1148, doi. 10.1038/ejhg.2009.17

By:

Bauer, Ralf;
Hudson, Judith;
Müller, Harald D.;
Sommer, Clemens;
Dekomien, Gabriele;
Bourke, John;
Routledge, Daniel;
Bushby, Kate;
Klepper, Jörg;
Straub, Volker

Publication type:

Article

Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4).

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1171, doi. 10.1038/ejhg.2008.267

By:

Strug, Lisa J.;
Clarke, Tara;
Chiang, Theodore;
Chien, Minchen;
Baskurt, Zeynep;
Weili Li;
Dorfman, Ruslan;
Bali, Bhavna;
Wirrell, Elaine;
Kugler, Steven L.;
Mandelbaum, David E.;
Wolf, Steven M.;
McGoldrick, Patricia;
Hardison, Huntley;
Novotny, Edward J.;
Jingyue Ju;
Greenberg, David A.;
Russo, James J.;
Pal, Deb K.

Publication type:

Article

Segregation analysis in a family at risk for the Maroteaux–Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1160, doi. 10.1038/ejhg.2009.19

By:

Zanetti, Alessandra;
Ferraresi, Elena;
Picci, Luigi;
Filocamo, Mirella;
Parini, Rossella;
Rosano, Camillo;
Tomanin, Rosella;
Scarpa, Maurizio

Publication type:

Article

Lessons from cutis laxa syndromes: wrinkles due to improper reloading of the extracellular matrix?

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1097, doi. 10.1038/ejhg.2009.59

By:

Kornak, Uwe

Publication type:

Article

Direct to consumer genetic tests.

Published in:

2009

By:

Patch, Christine;
Sequeiros, Jorge;
Cornel, Martina C.

Publication type:

Letter

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1112, doi. 10.1038/ejhg.2009.18

By:

Byrnes, Ashley M.;
Racacho, Lemuel;
Grimsey, Allison;
Hudgins, Louanne;
Kwan, Andrea C.;
Sangalli, Michel;
Kidd, Alexa;
Yaron, Yuval;
Yu-Lung Lau;
Nikkel, Sarah M.;
Bulman, Dennis E.

Publication type:

Article

Autosomal recessive cutis laxa syndrome revisited.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1099, doi. 10.1038/ejhg.2009.22

By:

Morava, Éva;
Guillard, Maïlys;
Lefeber, Dirk J.;
Wevers, Ron A.

Publication type:

Article

Multilocus analysis of age-related macular degeneration.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1190, doi. 10.1038/ejhg.2009.23

By:

Bergeron-Sawitzke, Julie;
Gold, Bert;
Olsh, Adam;
Schlotterbeck, Sarah;
Lemon, Kendal;
Visvanathan, Kala;
Allikmets, Rando;
Dean, Michael

Publication type:

Article

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1200, doi. 10.1038/ejhg.2009.24

By:

Spiegel, Ronen;
Shaag, Avraham;
Mandel, Hanna;
Reich, Dan;
Penyakov, Marina;
Hujeirat, Yasir;
Saada, Ann;
Elpeleg, Orly;
Shalev, Stavit A.

Publication type:

Article

Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1141, doi. 10.1038/ejhg.2009.27

By:

Mari, Francesca;
Hermanns, Pia;
Giovannucci-Uzielli, Maria L.;
Galluzzi, Fiorella;
Scott, Daryl;
Lee, Brendan;
Renieri, Alessandra;
Unger, Sheila;
Zabel, Bernhard;
Superti-Furga, Andrea

Publication type:

Article

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1165, doi. 10.1038/ejhg.2009.28

By:

Le Caignec, Cédric;
Kwiatkowski, David J.;
Küry, Sébastien;
Hardouin, Jean-Benoit;
Melki, Judith;
David, Albert

Publication type:

Article

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1154, doi. 10.1038/ejhg.2009.29

By:

Miltenberger-Miltenyi, Gabriel;
Schwarzbraun, Thomas;
Löscher, Wolfgang N.;
Wanschitz, Julia;
Windpassinger, Christian;
Duba, Hans-Christoph;
Seidl, Rainer;
Albrecht, Gerhard;
Weirich-Schwaiger, Helga;
Zoller, Heinz;
Utermann, Gerd;
Auer-Grumbach, Michaela;
Janecke, Andreas R.

Publication type:

Article

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1121, doi. 10.1038/ejhg.2009.36

By:

Stheneur, Chantal;
Collod-Béroud, Gwenaëlle;
Faivre, Laurence;
Buyck, Jean François;
Gouya, Laurent;
Le Parc, Jean-Marie;
Moura, Bertrand;
Muti, Christine;
Grandchamp, Bernard;
Sultan, Gilles;
Claustres, Mireille;
Aegerter, Philippe;
Chevallier, Bertrand;
Jondeau, Guillaume;
Boileau, Catherine

Publication type:

Article

Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1129, doi. 10.1038/ejhg.2009.37

By:

Mandich, Paola;
Fossa, Paola;
Capponi, Simona;
Geroldi, Alessandro;
Acquaviva, Massimo;
Gulli, Rossella;
Ciotti, Paola;
Manganelli, Fiore;
Grandis, Marina;
Bellone, Emilia

Publication type:

Article