Works matching IS 03406717 AND DT 2000 AND VI 106 AND IP 3

Results: 20

A fragile X case with an amplification/deletion mosaic pattern.

Published in:

Human Genetics, 2000, v. 106, n. 3, p. 366, doi. 10.1007/s004390000256

By:

Arocena, Dolores García;
de Diego, Yolanda;
Oostra, Ben A.;
Willemsen, R.;
Mirta Rodriguez, M.

Publication type:

Article

Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297–1G→A).

Published in:

Human Genetics, 2000, v. 106, n. 3, p. 360, doi. 10.1007/s004390051051

By:

Orozco, Lorena;
Velázquez, Rafael;
Zielenski, Julian;
Lap-Chee Tsui;
Chávez, Margarita;
Lezana, José Luis;
Saldaña, Yolanda;
Hernández, Elizabeth;
Carnevale, Alessandra

Publication type:

Article

Parental origin of the extra chromosome in prenatally diagnosed fetal trisomy 21.

Published in:

Human Genetics, 2000, v. 106, n. 3, p. 340, doi. 10.1007/s004390051047

By:

Muller, Françoise;
Rebiffé, Maryneige;
Taillandier, Agnès;
Oury, Jean-Françoise;
Mornet, Etienne

Publication type:

Article

Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection.

Published in:

Human Genetics, 2000, v. 106, n. 3, p. 370, doi. 10.1007/s004390051053

By:

Huizing, Marjan;
Anikster, Yair;
Gahl, WilliamA.

Publication type:

Article

A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations.

Published in:

Human Genetics, 2000, v. 106, n. 3, p. 330, doi. 10.1007/s004390051046

By:

Mornet, E.;
Gibrat, J.-F.

Publication type:

Article

Identification of 142 single nucleotide polymorphisms in 41 candidate genes for rheumatoid arthritis in the Japanese population.

Published in:

Human Genetics, 2000, v. 106, n. 3, p. 293, doi. 10.1007/s004390000248

By:

Yamada, Ryo;
Tanaka, Toshihiro;
Ohnishi, Yozo;
Suematsu, Koji;
Minami, Maiko;
Seki, Toyokazu;
Yukioka, Masao;
Maeda, Akira;
Murata, Norikazu;
Saiki, Osamu;
Teshima, Ryota;
Kudo, Osami;
Ishikawa, Koichiro;
Ueyosi, Akitaka;
Tateishi, Hiroomi;
Inaba, Masaaki;
Goto, Hithoshi;
Nishizawa, Yoshiki;
Tohma, Shigeto;
Ochi, Takahiro

Publication type:

Article

British Human Genetics Conference¶Including a One-Day Joint Symposium "Technologics in Genome Analysis" with the Genetical Society on Wednesday 13 September : 11-13 September 2000, University of York, UK.

Published in:: Human Genetics, 2000, v. 106, n. 3, p. 383, doi. 10.1007/s004390051054
Publication type:: Article

Segregation analysis of serum uric acid in the NHLBI Family Heart Study.

Published in:

Human Genetics, 2000, v. 106, n. 3, p. 355, doi. 10.1007/s004390051050

By:

Wilk, Jemma B.;
Djousse, Luc;
Borecki, Ingrid;
Atwood, Larry D.;
Hunt, Steven C.;
Rich, Stephen S.;
Eckfeldt, John H.;
Arnett, Donna K.;
Rao, D. C.;
Myers, Richard H.

Publication type:

Article

Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs.

Published in:

Human Genetics, 2000, v. 106, n. 3, p. 345, doi. 10.1007/s004390051048

By:

Prescott, Natalie J.;
Lees, Melissa M.;
Winter, Robin M.;
Malcolm, Sue

Publication type:

Article

A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations.

Published in:

Human Genetics, 2000, v. 106, n. 3, p. 330, doi. 10.1007/s004390051046

By:

Mornet, Etienne;
Gibrat, Jean-François

Publication type:

Article

Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (ψGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia.

Published in:

Human Genetics, 2000, v. 106, n. 3, p. 298, doi. 10.1007/s004390051041

By:

Takayanagi, Masaru;
Kure, Shigeo;
Sakata, Yoshiyuki;
Kurihara, Yukiko;
Ohya, Yukihiro;
Kajita, Mitsuharu;
Tada, Keiya;
Matsubara, Yoichi;
Narisawa, Kuniaki

Publication type:

Article

Association between M467T and 114 C→A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain.

Published in:

Human Genetics, 2000, v. 106, n. 3, p. 314, doi. 10.1007/s004390000251

By:

Guillén, Marisa;
Corella, Dolores;
Cabello, M. Luisa;
García, Ana M.;
Portolés, Olga;
Hernández-Yago, José

Publication type:

Article

Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients.

Published in:

Human Genetics, 2000, v. 106, n. 3, p. 311, doi. 10.1007/s004390000249

By:

Wimmer, Katharina;
Eckart, Markus;
Rehder, Helga;
Fonatsch, Christa

Publication type:

Article

SOX14 is a candidate gene for limb defects associated with BPES and Möbius syndrome.

Published in:

Human Genetics, 2000, v. 106, n. 3, p. 269, doi. 10.1007/s004390051037

By:

Wilmore, Helen P.;
Smith, Matthijs J.;
Wilcox, Stephen A.;
Bell, Katrina M.;
Sinclair, Andrew H.

Publication type:

Article

Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features.

Published in:

Human Genetics, 2000, v. 106, n. 3, p. 306, doi. 10.1007/s004390051042

By:

Adachi, Masanori;
Tachibana, Katsuhiko;
Asakura, Yumi;
Muroya, Koji;
Ogata, Tsutomu

Publication type:

Article

The spectrum of mutations in erythrokeratodermias – novel and de novo mutations in GJB3.

Published in:

Human Genetics, 2000, v. 106, n. 3, p. 321, doi. 10.1007/s004390051045

By:

Richard, Gabriele;
Brown, Nkecha;
Smith, Lisa E.;
Terrinoni, Alesandro;
Melino, Gerry;
MacKie, Rona M.;
Bale, Sherri J.;
Uitto, Jouni

Publication type:

Article

Identification of 187 single nucleotide polymorphisms (SNPs) among 41 candidate genes for ischemic heart disease in the Japanese population.

Published in:

Human Genetics, 2000, v. 106, n. 3, p. 288, doi. 10.1007/s004390051039

By:

Ohnishi, Y.;
Tanaka, T.;
Yamada, R.;
Suematsu, K.;
Minami, M.;
Fujii, K.;
Hoki, N.;
Kodama, K.;
Nagata, S.;
Hayashi, T.;
Kinoshita, N.;
Sato, H.;
Kuzuya, T.;
Takeda, H.;
Hori, M.;
Nakamura, Y.

Publication type:

Article

Identification of a gene disrupted by inv(11)(q13.5;q25) in a patient with left-right axis malformation.

Published in:

Human Genetics, 2000, v. 106, n. 3, p. 277, doi. 10.1007/s004390051038

By:

Iida, A.;
Emi, M.;
Matsuoka, R.;
Hiratsuka, E.;
Okui, K.;
Ohashi, H.;
Inazawa, J.;
Fukushima, Y.;
Imai, T.;
Nakamura, Y.

Publication type:

Article

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.

Published in:

Human Genetics, 2000, v. 106, n. 3, p. 259, doi. 10.1007/s004390000246

By:

Dörk, Thilo;
Macek Jr., Milan;
Mekus, Frauke;
Tümmler, Burkhard;
Tzountzouris, John;
Casals, Teresa;
Krebsová, Alice;
Koudová, Monika;
Sakmaryová, Iva;
Macek Sr., Milan;
Vávrová, Vecaron;ra;
Zemková, Dana;
Ginter, Evgeny;
Petrova, Nica V.;
Ivaschenko, Tatiana;
Baranov, Vladislav;
Witt, Michal;
Pogorzelski, Andrzej;
Bal, Jerzy;
Zékanowsky, Cesary

Publication type:

Article

Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22.

Published in:

Human Genetics, 2000, v. 106, n. 3, p. 351, doi. 10.1007/s004390051049

By:

Afzal, A.R.;
Rajab, A.;
Fenske, C.;
Crosby, A.;
Lahiri, N.;
Ternes-Pereira, E.;
Murday, V.A.;
Houlston, R.;
Patton, M.A.;
Jeffery, S.

Publication type:

Article