Works matching IS 10184813 AND DT 2007 AND VI 15 AND IP 1

Results: 20

Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 3, doi. 10.1038/sj.ejhg.5201654

By:

Robertson, Stephen P

Publication type:

Article

Vasoactive intestinal peptide gene alterations in patients with idiopathic pulmonary arterial hypertension.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 18, doi. 10.1038/sj.ejhg.5201711

By:

Haberl, Ines;
Frei, Klemens;
Ramsebner, Reinhard;
Doberer, Daniel;
Petkov, Ventzislav;
Albinni, Sulaima;
Lang, Irene;
Lucas, Trevor;
Mosgoeller, Wilhelm

Publication type:

Article

A recent genetic link between Sami and the Volga-Ural region of Russia.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 115, doi. 10.1038/sj.ejhg.5201712

By:

Ingman, Max;
Gyllensten, Ulf

Publication type:

Article

Molecular genetic analysis of the human dihydrofolate reductase gene: relation with plasma total homocysteine, serum and red blood cell folate levels.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 103, doi. 10.1038/sj.ejhg.5201713

By:

Gellekink, Henkjan;
Blom, Henk J.;
Van der Linden, I. J. M.;
Den Heijer, Martin

Publication type:

Article

X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 68, doi. 10.1038/sj.ejhg.5201714

By:

Jensen, Lars Riff;
Lenzner, Steffen;
Moser, Bettina;
Freude, Kristine;
Tzschach, Andreas;
Wei, Chen;
Fryns, Jean-Pierre;
Chelly, Jamel;
Turner, Gillian;
Moraine, Claude;
Hamel, Ben;
Ropers, Hans-Hilger;
Kuss, Andreas Walter

Publication type:

Article

The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li–Fraumeni syndrome and related phenotypes.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 110, doi. 10.1038/sj.ejhg.5201715

By:

Ruijs, Mariëlle W. G.;
Schmidt, Marjanka K.;
Nevanlinna, Heli;
Tommiska, Johanna;
Aittomäki, Kristiina;
Pruntel, Roelof;
Verhoef, Senno;
Van't Veer, Laura J.

Publication type:

Article

Changing rates of genetic subtypes of Prader–Willi syndrome in the UK.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 127, doi. 10.1038/sj.ejhg.5201716

By:

Whittington, Joyce E;
Butler, Jill V;
Holland, Anthony J

Publication type:

Article

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 29, doi. 10.1038/sj.ejhg.5201717

By:

Martínez-Garay, Isabel;
Tomás, Miguel;
Oltra, Silvestre;
Ramser, Juliane;
Moltó, Maria D;
Prieto, Félix;
Meindl, Alfons;
Kutsche, Kerstin;
Martínez, Francisco

Publication type:

Article

Towards mapping phenotypical traits in 18p− syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 35, doi. 10.1038/sj.ejhg.5201718

By:

Brenk, Christian H.;
Prott, Eva-Christina;
Trost, Detlef;
Hoischen, Alexander;
Walldorf, Constanze;
Radlwimmer, Bernhard;
Wieczorek, Dagmar;
Propping, Peter;
Gillessen-Kaesbach, Gabriele;
Weber, Ruthild G.;
Engels, Hartmut

Publication type:

Article

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 76, doi. 10.1038/sj.ejhg.5201719

By:

Gimelli, Giorgio;
Gimelli, Stefania;
Dimasi, Nazzareno;
Bocciardi, Renata;
Battista, Eliana Di;
Pramparo, Tiziano;
Zuffardi, Orsetta

Publication type:

Article

Novel deletion variants of 9q13–q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 45, doi. 10.1038/sj.ejhg.5201720

By:

Willatt, Lionel R.;
Barber, John C. K.;
Clarkson, Amanda;
Simonic, Ingrid;
Raymond, F. Lucy;
Docherty, Zoe;
Ogilvie, Caroline Mackie

Publication type:

Article

Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 81, doi. 10.1038/sj.ejhg.5201721

By:

Tomiuk, Jürgen;
Bachmann, Lutz;
Bauer, Claudia;
Rolfs, Arndt;
Schöls, Ludger;
Roos, Christian;
Zischler, Hans;
Schuler, Mathias M;
Bruntner, Silke;
Riess, Olaf;
Bauer, Peter

Publication type:

Article

Mutation screening of BMP4, BMP7, HOXA4 and HOXB6 genes in Chinese patients with hypospadias.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 23, doi. 10.1038/sj.ejhg.5201722

By:

Taiji Chen;
Qiang Li;
Jiajie Xu;
Keyue Ding;
Yanping Wang;
Weiqiu Wang;
Senkai Li;
Yan Shen

Publication type:

Article

Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 88, doi. 10.1038/sj.ejhg.5201724

By:

Moran, Colin N.;
Nan Yang;
Bailey, Mark E. S.;
Tsiokanos, Athanasios;
Jamurtas, Athanasios;
MacArthur, Daniel G.;
North, Kathryn;
Pitsiladis, Yannis P.;
Wilson, Richard H.

Publication type:

Article

Rapid and reliable genotyping of polymorphic loci modifying correct splicing of CFTR pre-mRNA using mass spectrometry.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 53, doi. 10.1038/sj.ejhg.5201725

By:

Schaller, André;
Von Känel, Thomas;
Gehr, Benedikt;
Sanz, Javier;
Gallati, Sabina

Publication type:

Article

Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 121, doi. 10.1038/sj.ejhg.5201726

By:

Firasat, Sadaf;
Khaliq, Shagufta;
Mohyuddin, Aisha;
Papaioannou, Myrto;
Tyler-Smith, Chris;
Underhill, Peter A;
Ayub, Qasim

Publication type:

Article

Implication of abnormal epigenetic patterns for human diseases.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 10, doi. 10.1038/sj.ejhg.5201727

By:

Santos-Rebouças, C. B.;
Pimentel, M. M. G.

Publication type:

Article

Diagnostics: Genomic copy number analysis in mental retardation: finding the needles in the haystack.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 1, doi. 10.1038/sj.ejhg.5201728

By:

Veltman, Joris A

Publication type:

Article

A genome-wide scan for naevus count: linkage to CDKN2A and to other chromosome regions.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 94, doi. 10.1038/sj.ejhg.5201729

By:

Gu Zhu;
Montgomery, Grant W;
James, Michael R;
Trent, Jeff M;
Hayward, Nicholas K;
Martin, Nicholas G;
Duffy, David L

Publication type:

Article

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams–Beuren locus.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 62, doi. 10.1038/sj.ejhg.5201730

By:

Torniero, Claudia;
Bernardina, Bernardo dalla;
Novara, Francesca;
Vetro, Annalisa;
Ricca, Ivana;
Darra, Francesca;
Pramparo, Tiziano;
Guerrini, Renzo;
Zuffardi, Orsetta

Publication type:

Article