Works matching IS 03406717 AND DT 2003 AND VI 112 AND IP 3

Results: 18

Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer.

Published in:

Human Genetics, 2003, v. 112, n. 3, p. 303, doi. 10.1007/s00439-002-0892-2

By:

Turner, Clesson;
Killoran, Christina;
Thomas, Nick S. T.;
Rosenberg, Marjorie;
Chuzhanova, Nadia A.;
Johnston, Jennifer;
Kemel, Yelena;
Cooper, David N.;
Biesecker, Leslie G.

Publication type:

Article

Founder effect of the C9 R95X mutation in Orientals.

Published in:

Human Genetics, 2003, v. 112, n. 3, p. 244, doi. 10.1007/s00439-002-0870-8

By:

Khajoee, Vahid;
Ihara, Kenji;
Kira, Ryutaro;
Takemoto, Megumi;
Torisu, Hiroyuki;
Sakai, Yasunari;
Guanjun, Jia;
Hee, Park Myoung;
Tokunaga, Katsushi;
Hara, Toshiro

Publication type:

Article

Fragile X syndrome: diagnosis, treatment and research: Randi Jenssen Hagerman, Paul J Hagerman (eds) John Hopkins University Press, ISBN 0-8018-6843-2 (hardcover) £ 65.50; ISBN 0-8018-6844-0 (paperback) £ 31.00.

Published in:

2003

By:

de Vries, Bert B. A.

Publication type:

Book Review

Patterns of associations of clinical features in neurofibromatosis 1 (NF1).

Published in:

Human Genetics, 2003, v. 112, n. 3, p. 289, doi. 10.1007/s00439-002-0871-7

By:

Szudek, Jacek;
Evans, D. Gareth;
Friedman, Jan M.

Publication type:

Article

Helen M. Kingston: ABC of Clinical Genetics (3rd edn): BJM Books, ISBN 0727916270, softcover, £17.95.

Published in:

2003

By:

Rankin, Julia

Publication type:

Book Review

The novel imprinted carboxypeptidase A4 gene (CPA4) in the 7q32 imprinting domain.

Published in:

Human Genetics, 2003, v. 112, n. 3, p. 220, doi. 10.1007/s00439-002-0891-3

By:

Kayashima, Tomohiko;
Yamasaki, Kentaro;
Yamada, Takahiro;
Sakai, Hideki;
Miwa, Nobutomo;
Ohta, Tohru;
Yoshiura, Koh-Ichiro;
Matsumoto, Naomichi;
Nakane, Yoshibumi;
Kanetake, Hiroshi;
Ishino, Fumitoshi;
Niikawa, Norio;
Kishino, Tatsuya

Publication type:

Article

Acknowledgement to referees 2002.

Published in:: Human Genetics, 2003, v. 112, n. 3, p. 324, doi. 10.1007/s00439-003-0929-1
Publication type:: Article

Thank you Robert Nussbaum, Welcome Thomas Hudson!

Published in:

Human Genetics, 2003, v. 112, n. 3, p. 219, doi. 10.1007/s00439-003-0918-4

By:

Lange, Rolf

Publication type:

Article

Relation of risk of systemic lupus erythematosus to west African admixture in a Caribbean population.

Published in:

Human Genetics, 2003, v. 112, n. 3, p. 310, doi. 10.1007/s00439-002-0883-3

By:

Molokhia, M.;
Hoggart, C.;
Patrick, A. L.;
Shriver, M.;
Parra, E.;
Ye, J.;
Silman, A. J.;
McKeigue, P. M.

Publication type:

Article

Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.

Published in:

Human Genetics, 2003, v. 112, n. 3, p. 249, doi. 10.1007/s00439-002-0901-5

By:

Winter, Jennifer;
Lehmann, Tanja;
Suckow, Vanessa;
Kijas, Zofia;
Kulozik, Andreas;
Kalscheuer, Vera;
Hamel, Ben;
Devriendt, Koen;
Opitz, John;
Lenzner, Steffen;
Ropers, Hans-Hilger;
Schweiger, Susann

Publication type:

Article

Frederick Burkhardt, Duncan M. Porter, Sheila Ann Dean, Jonathan R. Topham, Sarah Wilmot (eds): The Correspondence of Charles Darwin 1864 (Vol. 12): Cambridge University Press, ISBN 0521590345, £55.00, hardcover.

Published in:

2003

By:

Harper, Peter

Publication type:

Book Review

Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot.

Published in:

Human Genetics, 2003, v. 112, n. 3, p. 272, doi. 10.1007/s00439-002-0881-5

By:

Sironi, Manuela;
Pozzoli, Uberto;
Cagliani, Rachele;
Giorda, Roberto;
Comi, Giacomo P.;
Bardoni, Alessandra;
Menozzi, Giorgia;
Bresolin, Nereo

Publication type:

Article

Assessment of the CTNNA3 gene encoding human αT-catenin regarding its involvement in dilated cardiomyopathy.

Published in:

Human Genetics, 2003, v. 112, n. 3, p. 227, doi. 10.1007/s00439-002-0857-5

By:

Janssens, Barbara;
Mohapatra, Bhagyalaxmi;
Vatta, Matteo;
Goossens, Steven;
Vanpoucke, Griet;
Kools, Patrick;
Montoye, Tony;
van Hengel, Jolanda;
Bowles, Neil E.;
van Roy, Frans;
Towbin, Jeffrey A.

Publication type:

Article

A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family.

Published in:

Human Genetics, 2003, v. 112, n. 3, p. 319, doi. 10.1007/s00439-002-0880-6

By:

D'Adamo, Pio;
Pinna, Maura;
Capobianco, Saverio;
Cesarani, Antonio;
D'Eustacchio, Angela;
Fogu, Pina;
Carella, Massimo;
Seri, Marco;
Gasparini, Paolo

Publication type:

Article

Influence of interleukin-12 receptor β1 polymorphisms on tuberculosis.

Published in:

Human Genetics, 2003, v. 112, n. 3, p. 237, doi. 10.1007/s00439-002-0873-5

By:

Akahoshi, Mitsuteru;
Nakashima, Hitoshi;
Miyake, Katsuhisa;
Inoue, Yasushi;
Shimizu, Sakiko;
Tanaka, Yosuke;
Okada, Kaoru;
Otsuka, Takeshi;
Harada, Mine

Publication type:

Article

Testing hypotheses of language replacement in the Caucasus: evidence from the Y-chromosome.

Published in:

Human Genetics, 2003, v. 112, n. 3, p. 255, doi. 10.1007/s00439-002-0874-4

By:

Nasidze, Ivan;
Sarkisian, Tamara;
Kerimov, Azer;
Stoneking, Mark

Publication type:

Article

A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities.

Published in:

Human Genetics, 2003, v. 112, n. 3, p. 298, doi. 10.1007/s00439-002-0887-z

By:

Cockwell, Annette E.;
Jacobs, Patricia A.;
Beal, Sarah J.;
Crolla, John A.

Publication type:

Article

FMR1 haplotype analyses among Indians: a weak founder effect and other findings.

Published in:

Human Genetics, 2003, v. 112, n. 3, p. 262, doi. 10.1007/s00439-002-0872-6

By:

Sharma, Deepti;
Gupta, Meena;
Thelma, B. K.

Publication type:

Article