Works matching IS 10184813 AND DT 2009 AND VI 17 AND IP 1

Results: 20

LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 1, p. 85, doi. 10.1038/ejhg.2008.138

By:

Snozek, Christine L. H.;
Lagerstedt, Susan A.;
Khoo, Teck K.;
Rubenfire, Melvyn;
Isley, William L.;
Train, Laura J.;
Baudhuin, Linnea M.

Publication type:

Article

Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 1, p. 91, doi. 10.1038/ejhg.2008.120

By:

Di Gaetano, Cornelia;
Cerutti, Nicoletta;
Crobu, Francesca;
Robino, Carlo;
Inturri, Serena;
Gino, Sarah;
Guarrera, Simonetta;
Underhill, Peter A;
King, Roy J.;
Romano, Valentino;
Cali, Francesco;
Gasparini, Mauro;
Matullo, Giuseppe;
Salerno, Alfredo;
Torre, Carlo;
Piazza, Alberto

Publication type:

Article

Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 1, p. 37, doi. 10.1038/ejhg.2008.133

By:

Glancy, Mary;
Barnicoat, Angela;
Vijeratnam, Rajan;
de Souza, Sharon;
Gilmore, Joanne;
Huang, Shuwen;
Maloney, Viv K;
Thomas, N Simon;
Bunyan, David J.;
Jackson, Ann;
Barber, John C. K.

Publication type:

Article

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 1, p. 51, doi. 10.1038/ejhg.2008.136

By:

Dequeker, Els;
Stuhrmann, Manfred;
Morris, Michael A.;
Casals, Teresa;
Castellani, Carlo;
Claustres, Mireille;
Cuppens, Harry;
des Georges, Marie;
Ferec, Claude;
Macek, Milan;
Pignatti, Pier-Franco;
Scheffer, Hans;
Schwartz, Marianne;
Witt, Michal;
Schwarz, Martin;
Girodon, Emmanuelle

Publication type:

Article

Misleading behavioural phenotype with adenylosuccinate lyase deficiency.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 1, p. 133, doi. 10.1038/ejhg.2008.174

By:

Gitiaux, Cyril;
Ceballos-Picot, Irène;
Marie, Sandrine;
Valayannopoulos, Vassili;
Rio, Marlène;
Verrieres, Séverine;
Benoist, Jean François;
Vincent, Marie Françoise;
Desguerre, Isabelle;
Bahi-Buisson, Nadia

Publication type:

Article

Dual-allele dipstick assay for genotyping single nucleotide polymorphisms by primer extension reaction.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 1, p. 105, doi. 10.1038/ejhg.2008.139

By:

Konstantou, Jessica K.;
Ioannou, Penelope C.;
Christopoulos, Theodore K.

Publication type:

Article

Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 1, p. 14, doi. 10.1038/ejhg.2008.141

By:

Alsmadi, Osama;
Meyer, Brian F.;
Alkuraya, Fowzan;
Wakil, Salma;
Alkayal, Fadi;
Al-Saud, Haya;
Ramzan, Khushnooda;
Al-Sayed, MoeenAldeen

Publication type:

Article

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 1, p. 112, doi. 10.1038/ejhg.2008.161

By:

Van Opstal, Diane;
Boter, Marjan;
de Jong, Danielle;
van den Berg, Cardi;
Brüggenwirth, Hennie T.;
Wildschut, Hajo I J.;
de Klein, Annelies;
Galjaard, Robert-Jan H.

Publication type:

Article

Prader–Willi syndrome.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 1, p. 3, doi. 10.1038/ejhg.2008.165

By:

Cassidy, Suzanne B.;
Driscoll, Daniel J.

Publication type:

Article

Variation near complement factor I is associated with risk of advanced AMD.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 1, p. 100, doi. 10.1038/ejhg.2008.140

By:

Fagerness, Jesen A.;
Maller, Julian B.;
Neale, Benjamin M;
Reynolds, Robyn C.;
Daly, Mark J.;
Seddon, Johanna M.

Publication type:

Article

Problems assessing uptake of Huntington disease predictive testing and a proposed solution.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 1, p. 66, doi. 10.1038/ejhg.2008.142

By:

Tassicker, Roslyn J.;
Teltscher, Betty;
Trembath, M Kaye;
Collins, Veronica;
Sheffield, Leslie J.;
Chiu, Edmond;
Gurrin, Lyle;
Delatycki, Martin B.

Publication type:

Article

Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 1, p. 129, doi. 10.1038/ejhg.2008.168

By:

Engbers, Hannelie;
van der Smagt, Jasper J;
van ‘t Slot, Ruben;
Vermeesch, Joris R.;
Hochstenbach, Ron;
Poot, Martin

Publication type:

Article

An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 1, p. 80, doi. 10.1038/ejhg.2008.143

By:

Ebermann, Inga;
Koenekoop, Robert K.;
Lopez, Irma;
Bou-Khzam, Lara;
Pigeon, Renée;
Bolz, Hanno J.

Publication type:

Article

Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 1, p. 44, doi. 10.1038/ejhg.2008.144

By:

Bhatt, Samarth;
Moradkhani, Kamran;
Mrasek, Kristin;
Puechberty, Jacques;
Manvelyan, Marina;
Hunstig, Friederike;
Lefort, Genevieve;
Weise, Anja;
Lespinasse, James;
Sarda, Pierre;
Liehr, Thomas;
Hamamah, Samir;
Pellestor, Franck

Publication type:

Article

Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 1, p. 71, doi. 10.1038/ejhg.2008.145

By:

Font-Llitjós, Mariona;
Rodríguez-Santiago, Benjamín;
Espino, Meritxell;
Sillué, Ruth;
Mañas, Sandra;
Gómez, Laia;
Pérez-Jurado, Luis A;
Palacín, Manuel;
Nunes, Virginia

Publication type:

Article

Re-assigning the DFNB33 locus to chromosome 10p11.23–q21.1.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 1, p. 122, doi. 10.1038/ejhg.2008.155

By:

Belguith, Hanen;
Masmoudi, Saber;
Medlej-Hashim, Myrna;
Chouery, Eliane;
Weil, Dominique;
Ayadi, Hammadi;
Petit, Christine;
Mégarbané, André

Publication type:

Article

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 1, p. 125, doi. 10.1038/ejhg.2008.159

By:

Kahrizi, Kimia;
Najmabadi, Hossein;
Kariminejad, Roxana;
Jamali, Payman;
Malekpour, Mahdi;
Garshasbi, Masoud;
Ropers, Hans Hilger;
Kuss, Andreas Walter;
Tzschach, Andreas

Publication type:

Article

Low frequency of imprinting defects in ICSI children born small for gestational age.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 1, p. 22, doi. 10.1038/ejhg.2008.177

By:

Kanber, Deniz;
Buiting, Karin;
Zeschnigk, Michael;
Ludwig, Michael;
Horsthemke, Bernhard

Publication type:

Article

Imprinting, Small Babies and Assisted Reproduction: Genomic imprinting, small babies and assisted reproduction.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 1, p. 1, doi. 10.1038/ejhg.2008.199

By:

Amor, David J.

Publication type:

Article

Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 1, p. 30, doi. 10.1038/ejhg.2008.183

By:

Griggs, Bradley L.;
Ladd, Sydney;
Decker, Amy;
DuPont, Barbara R.;
Asamoah, Alexander;
Srivastava, Anand K.

Publication type:

Article