Works matching IS 10184813 AND DT 2001 AND VI 9 AND IP 3

Results: 13

MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 3, p. 178, doi. 10.1038/sj.ejhg.5200600

By:

Nielsen, Jytte Bieber;
Henriksen, Karen Friis;
Hansen, Claus;
Silahtaroglu, Asli;
Schwartz, Marianne;
Tommerup, Niels

Publication type:

Article

Mitochondrial DNA analysis of the putative heart of Louis XVII, son of Louis XVI and Marie-Antoinette.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 3, p. 185, doi. 10.1038/sj.ejhg.5200602

By:

Jehaes, Els;
Pfeiffer, Heidi;
Toprak, Kaan;
Decorte, Ronny;
Brinkmann, Bernd;
Cassiman, Jean-Jacques

Publication type:

Article

A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 3, p. 171, doi. 10.1038/sj.ejhg.5200604

By:

Rosenberg, Carla;
Wouters, Cokkie H;
Szuhai, Karoly;
Dorland, Rien;
Pearson, Peter;
Tien Poll-The, Bwee;
Colombijn, R Max;
Breuning, Martijn;
Lindhout, Dick

Publication type:

Article

Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 3, p. 197, doi. 10.1038/sj.ejhg.5200605

By:

Hunt, Debbie M;
Rickman, Lisa;
Whittock, Neil V;
Eady, Robin AJ;
Šimrak, Danijela;
Dopping-Hepenstal, Patricia JC;
Stevens, Howard P;
Armstrong, D Keith B;
Hennies, Hans Christian;
Küster, Wolfgang;
Hughes, Anne E;
Arnemann, Joachim;
Leigh, Irene M;
McGrath, John A;
Kelsell, David P;
Buxton, Roger S

Publication type:

Article

Brain studies of mouse models for neurogenetic disorders using in vivo magnetic resonance imaging (MRI).

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 3, p. 153, doi. 10.1038/sj.ejhg.5200606

By:

Kooy, R Frank;
Verhoye, Marleen;
Lemmon, Vance;
Van Der Linden, Annemie

Publication type:

Article

Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 3, p. 226, doi. 10.1038/sj.ejhg.5200607

By:

Löffler, Judith;
Nekahm, Doris;
Hirst-Stadlmann, Almut;
Günther, Barbara;
Menzel, Hans-Jürgen;
Utermann, Gerd;
Janecke, Andreas R

Publication type:

Article

A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's disease (FMF-BD).

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 3, p. 191, doi. 10.1038/sj.ejhg.5200608

By:

Livneh, Avi;
Aksentijevich, Ivona;
Langevitz, Pnina;
Torosyan, Yelizaveta;
G-Shoham, Nitza;
Shinar, Yael;
Pras, Elon;
Zaks, Nurit;
Padeh, Shai;
Kastner, Daniel L;
Pras, Mordechai

Publication type:

Article

The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 3, p. 204, doi. 10.1038/sj.ejhg.5200609

By:

Holt, Ian;
Clements, Lisa;
Manilal, Sushila;
Brown, Susan C;
Morris, Glenn E

Publication type:

Article

Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 3, p. 217, doi. 10.1038/sj.ejhg.5200610

By:

Horsley, Sharon W;
Daniels, Rachael J;
Anguita, Eduardo;
Raynham, Helen A;
Peden, John F;
Villegas, Ana;
Vickers, Mark A;
Green, Sarah;
Waye, John S;
Chui, David HK;
Ayyub, Helena;
MacCarthy, Angela B;
Buckle, Veronica J;
Gibbons, Richard J;
Kearney, Lyndal;
Higgs, Douglas R

Publication type:

Article

A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 3, p. 165

By:

Bönsch, Dominikus;
Scheer, Petra;
Neumann, Cora;
Lang-Roth, Ruth;
Seifert, Eberhard;
Storch, Peter;
Weiller, Cornelius;
Lamprecht-Dinnesen, Antoinette;
Deufel, Thomas

Publication type:

Article

Parental mosaicism of JAG1 mutations in families with Alagille syndrome.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 3, p. 209, doi. 10.1038/sj.ejhg.5200613

By:

Giannakudis, Joannis;
Röpke, Albrecht;
Kujat, Annegret;
Krajewska-Walasek, Malgorzata;
Hughes, Helen;
Fryns, Jean-Pierre;
Bankier, Agnes;
Amor, David;
Schlicker, Mike;
Hansmann, Ingo

Publication type:

Article

Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 3, p. 160

By:

Zühlke, Christine;
Hellenbroich, Yorck;
Dalski, Andreas;
Hagenah, Johann;
Vieregge, Peter;
Riess, Olaf;
Klein, Christine;
Schwinger, Eberhard

Publication type:

Article

Parental origin of de novo MECP2 mutations in Rett syndrome.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 3, p. 231, doi. 10.1038/sj.ejhg.5200618

By:

Girard, Muriel;
Couvert, Philippe;
Carrié, Alain;
Tardieu, Marc;
Chelly, Jamel;
Beldjord, Cherif;
Bienvenu, Thierry

Publication type:

Article