Works matching IS 10184813 AND DT 1999 AND VI 7 AND IP 3

Results: 19

Nucleotide changes in the γ-globin promoter and the (AT)xNy(AT)z polymorphic sequence of βLCRHS-2 region associated with altered levels of HbF.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 3, p. 345, doi. 10.1038/sj.ejhg.5200284

By:

Samakoglu, Selda;
Philipsen, Sjaak;
Grosveld, Frank;
Lüleci, Güven;
Bagci, Hüseyin

Publication type:

Article

Dopamine D4 receptor polymorphism and idiopathic Parkinson's disease.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 3, p. 397, doi. 10.1038/sj.ejhg.5200297

By:

Kronenberg, Martina F;
Menzel, Hans-Jürgen;
Ebersbach, Georg;
Wenning, Gregor K;
Luginger, Elisabeth;
Gollner, Martin;
Ransmayr, Gerhard;
Utermann, Gerd;
Poewe, Werner;
Kronenberg, Florian

Publication type:

Article

SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 3, p. 301, doi. 10.1038/sj.ejhg.5200286

By:

Patrizi, Anna Letizia;
Tiziano, Francesco;
Zappata, Stefania;
Donati, Maria Alice;
Neri, Giovanni;
Brahe, Christina

Publication type:

Article

Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 3, p. 310, doi. 10.1038/sj.ejhg.5200288

By:

Izatt, Louise;
Vessey, Carina;
Hodgson, Shirley V;
Solomon, Ellen

Publication type:

Article

Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 3, p. 293, doi. 10.1038/sj.ejhg.5200292

By:

Rugg, Elizabeth L;
Rachet-Préhu, Marie-Odette;
Rochat, Ariane;
Barrandon, Yann;
Goossens, Michel;
Lane, E Birgitte;
Hovnanian, Alain

Publication type:

Article

mtDNA haplogroup J: a contributing factor of optic neuritis.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 3, p. 404, doi. 10.1038/sj.ejhg.5200293

By:

Reynier, Pascal;
Penisson-Besnier, Isabelle;
Moreau, Corinne;
Savagner, Frédérique;
Vielle, Bruno;
Emile, Jean;
Dubas, Frédéric;
Malthièry, Yves

Publication type:

Article

Molecular characterisation of the defective α1-antitrypsin alleles PI Mwürzburg (Pro369Ser), Mheerlen (Pro369Leu), and Q0lisbon (Thr68lle).

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 3, p. 321, doi. 10.1038/sj.ejhg.5200304

By:

Poller, Wolfgang;
Merklein, Frank;
Schneider-Rasp, Sonja;
Haack, Anja;
Fechner, Henry;
Wang, Haili;
Anagnostopoulos, Ioannis;
Weidinger, Sebastian

Publication type:

Article

Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 3, p. 368, doi. 10.1038/sj.ejhg.5200300

By:

Huopaniemi, Laura;
Rantala, Anne;
Forsius, Henrik;
Somer, Mirja;
de la Chapelle, Albert;
Alitalo, Tiina

Publication type:

Article

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 3, p. 267, doi. 10.1038/sj.ejhg.5200289

By:

Nelen, Marcel R;
Kremer, Hannie;
Konings, Irene BM;
Schoute, Frans;
Essen, Anton J van;
Koch, Rainer;
Woods, C Geoffrey;
Fryns, Jean-Pierre;
Hamel, Ben;
Hoefsloot, Lies H;
Peeters, Els AJ;
Padberg, George W

Publication type:

Article

Linkage analysis of multiple sclerosis with candidate region markers in Sardinian and Continental Italian families.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 3, p. 377, doi. 10.1038/sj.ejhg.5200301

By:

D'Alfonso, Sandra;
Nisticò, Lorenza;
Zavattari, Patrizia;
Marrosu, Maria Giovanna;
Murru, Raffaele;
Lai, Marina;
Massacesi, Luca;
Ballerini, Clara;
Gestri, Donella;
Salvetti, Marco;
Ristori, Giovanni;
Bomprezzi, Roberto;
Trojano, Maria;
Liguori, Maria;
Gambi, Domenico;
Quattrone, Aldo;
Fruci, Doriana;
Cucca, Francesco;
Richiardi, Patricia Momigliano

Publication type:

Article

Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 3, p. 332, doi. 10.1038/sj.ejhg.5200302

By:

Bardien-Kruger, Soraya;
Greenberg, Jacquie;
Tubb, Benjamin;
Bryan, Joseph;
Queimado, Lurdes;
Lovett, Michael;
Ramesar, Rajkumar S

Publication type:

Article

Phenotype–genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 3, p. 287, doi. 10.1038/sj.ejhg.5200303

By:

Shohat, M;
Magal, N;
Shohat, T;
Chen, X;
Dagan, T;
Mimouni, A;
Danon, Y;
Lotan, R;
Ogur, G;
Sirin, A;
Schlezinger, M;
Halpern, G J;
Schwabe, A;
Kastner, D;
Rotter, J I;
Fischel-Ghodsian, N

Publication type:

Article

(CAG)nCAA and GGN repeats in the human androgen receptor gene are not associated with prostate cancer in a French–German population.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 3, p. 357, doi. 10.1038/sj.ejhg.5200298

By:

Correa-Cerro, Lina;
Wöhr, Gudrun;
Häussler, Jürgen;
Berthon, Philippe;
Drelon, Eric;
Mangin, Philippe;
Fournier, Georges;
Cussenot, Oliver;
Kraus, Petra;
Just, Walter;
Paiss, Thomas;
Cantú, José María;
Vogel, Walther

Publication type:

Article

Apolipoprotein E and herpes virus diseases: herpes simplex keratitis.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 3, p. 401, doi. 10.1038/sj.ejhg.5200313

By:

Lin, Woan-Ru;
Tullo, Andrew B;
Itzhaki, Ruth F

Publication type:

Article

Molecular genetic analysis of human folate receptors in neural tube defects.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 3, p. 393, doi. 10.1038/sj.ejhg.5200305

By:

Heil, Sandra G;
van der Put, Nathalie MJ;
Trijbels, Frans JM;
Gabreëls, Fons JM;
Blom, Henk J

Publication type:

Article

Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 3, p. 386, doi. 10.1038/sj.ejhg.5200312

By:

Desviat, L R;
Pérez, B;
Gámez, A;
Sánchez, A;
García, M J;
Martínez-Pardo, M;
Marchante, C;
Bóveda, D;
Baldellou, A;
Arena, J;
Sanjurjo, P;
Fernández, A;
Cabello, M L;
Ugarte, M

Publication type:

Article

Cytogenetic analysis of 477 psoriatics revealed an increased frequency of aberrations involving chromosome region 11q.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 3, p. 339

By:

Enerbäck, Charlotta;
Holmqvist, Deborah;
Inerot, Annica;
Enlund, Fredrik;
Samuelsson, Lena;
Torinsson, Åsa;
Wahlström, Jan;
Swanbeck, Gunnar;
Martinsson, Tommy

Publication type:

Article

A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23–24.2.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 3, p. 363, doi. 10.1038/sj.ejhg.5200307

By:

Hmani, Mounira;
Ghorbel, Abdelmonem;
Boulila-Elgaied, Amel;
Zina, Zeineb Ben;
Kammoun, Wafa;
Drira, Mohamed;
Chaabouni, Mohamed;
Petit, Christine;
Ayadi, Hammadi

Publication type:

Article

Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 3, p. 274

By:

Grønskov, Karen;
Rosenberg, Thomas;
Sand, Annie;
Brøndum-Nielsen, Karen

Publication type:

Article