Works matching IS 03406717 AND DT 2000 AND VI 107 AND IP 1

Results: 19

Inheritance of heart rate variability: the kibbutzim family study.

Published in:

2000

By:

Sinnreich, Ronit;
Friedlander, Yechiel;
Luria, Myron H.;
Sapoznikov, Dan;
Kark, Jeremy D.

Publication type:

Erratum

Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies.

Published in:

2000

By:

Estop, Anna M.;
Cieply, Kathy;
Munne, Santiago;
Surti, Urvashi;
Wakim, Anthony;
Feingold, Eleanor

Publication type:

Erratum

Variant detection at the δ opioid receptor (OPRD1) locus and population genetics of a novel variant affecting protein sequence.

Published in:

Human Genetics, 2000, v. 107, n. 1, p. 86, doi. 10.1007/s004390050016

By:

Gelernter, Joel;
Kranzler, Henry R.

Publication type:

Article

An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family.

Published in:

Human Genetics, 2000, v. 107, n. 1, p. 83, doi. 10.1007/s004390050015

By:

Kokkonen, Hannaleena;
Leisti, Jaakko

Publication type:

Article

Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1.

Published in:

Human Genetics, 2000, v. 107, n. 1, p. 89, doi. 10.1007/s004390050017

By:

Jacobi, Felix K.;
Broghammer, Martina;
Pesch, Katrin;
Zrenner, Eberhart;
Berger, Wolfgang;
Meindl, Alfons;
Pusch, Carsten M.

Publication type:

Article

Microscopic assessment of pronuclear embryos is not definitive.

Published in:

Human Genetics, 2000, v. 107, n. 1, p. 62, doi. 10.1007/s004390050012

By:

Alvin Soon Tiong Lim;
Victor Hng Hang Goh;
Cai Lan Su;
Su Ling Yu

Publication type:

Article

Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy.

Published in:

Human Genetics, 2000, v. 107, n. 1, p. 75, doi. 10.1007/s004390050014

By:

Ayyagari, Radha;
Kakuk, Laura E.;
Bingham, Eve L.;
Szczesny, Janet J.;
Kemp, Jennifer;
Toda, Yumiko;
Felius, Joost;
Sieving, Paul A.

Publication type:

Article

Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals.

Published in:

Human Genetics, 2000, v. 107, n. 1, p. 51, doi. 10.1007/s004390050010

By:

Granzow, Martin;
Popp, Susanne;
Keller, Monika;
Holtgreve-Grez, Heidi;
Brough, Michaela;
Schoell, Brigitte;
Rauterberg-Ruland, Inge;
Hager, Hans-Dieter;
Tariverdian, Gholamali;
Jauch, Anna

Publication type:

Article

Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours.

Published in:

Human Genetics, 2000, v. 107, n. 1, p. 33, doi. 10.1007/s004390050007

By:

Horan, Martin P.;
Cooper, David N.;
Upadhyaya, Meena

Publication type:

Article

Familial typical migraine: significant linkage and localization of a gene to Xq24–28.

Published in:

Human Genetics, 2000, v. 107, n. 1, p. 18, doi. 10.1007/s004390050004

By:

Nyholt, Dale R.;
Curtain, Robert P.;
Griffiths, Lyn R.

Publication type:

Article

Characterization and localization of human COX17, a gene involved in mitochondrial copper transport.

Published in:

Human Genetics, 2000, v. 107, n. 1, p. 69, doi. 10.1007/s004390050013

By:

Punter, Fiona A.;
Adams, Denise L.;
Glerum, D. Moira

Publication type:

Article

Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect.

Published in:

Human Genetics, 2000, v. 107, n. 1, p. 40, doi. 10.1007/s004390050008

By:

Gallione, Carol J.;
Scheessele, Erin A.;
Reinhardt, Diana;
Duits, Ashley J.;
Berg, Jonathan N.;
Westermann, Cornelius J.J.;
Marchuk, Douglas A.

Publication type:

Article

Female fetal cells in maternal blood: use of DNA polymorphisms to prove origin.

Published in:

Human Genetics, 2000, v. 107, n. 1, p. 28, doi. 10.1007/s004390050006

By:

Samura, Osamu;
Pertl, Barbara;
Sohda, Satoshi;
Johnson, Kirby L.;
Sekizawa, Akihiko;
Falco, Vincent M.;
Elmes, R. Sarah;
Bianchi, Diana W.

Publication type:

Article

Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community.

Published in:

Human Genetics, 2000, v. 107, n. 1, p. 12, doi. 10.1007/s004390050003

By:

Drousiotou, Anthi;
Stylianidou, Goula;
Anastasiadou, Violetta;
Christopoulos, George;
Mavrikiou, Eleni;
Georgiou, Theodoros;
Kalakoutis, Gabriel;
Oladimeji, Adebayo;
Hara, Yoji;
Suzuki, Kunihiko;
Furihata, Kenichi;
Ueno, Ichiro;
Ioannou, Panayiotis A.;
Fensom, Anthony H.

Publication type:

Article

Effect of nonsense mutations on PTEN mRNA stability.

Published in:

Human Genetics, 2000, v. 107, n. 1, p. 24, doi. 10.1007/s004390050005

By:

Raizis, Anthony M.;
Ferguson, Martin M.;
George, Peter M.

Publication type:

Article

MtDNA substitution rate and segregation of heteroplasmy in coding and noncoding regions.

Published in:

Human Genetics, 2000, v. 107, n. 1, p. 45, doi. 10.1007/s004390050009

By:

Cavelier, Lucia;
Jazin, Elena;
Jalonen, Paula;
Gyllensten, Ulf

Publication type:

Article

Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment.

Published in:

Human Genetics, 2000, v. 107, n. 1, p. 7, doi. 10.1007/s004390050002

By:

Verhoeven, Kristien;
Fagerheim, Toril;
Prasad, Sai;
Wayne, Sigrid;
De Clau, Frank;
Balemans, Wendy;
Verstreken, Margriet;
Schatteman, Isabelle;
Solem, Bjorn;
Van de Heyning, Paul;
Tranebjärg, Lisbeth;
Smith, Richard J. H.;
Van Camp, Guy

Publication type:

Article

Relationship between E-selectin L/F554 polymorphism and blood pressure in the Stanislas cohort.

Published in:

Human Genetics, 2000, v. 107, n. 1, p. 58, doi. 10.1007/s004390050011

By:

Sass, Catherine;
Pallaud, Celine;
Zannad, Faiez;
Visvikis, Sophie

Publication type:

Article

Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3.

Published in:

Human Genetics, 2000, v. 107, n. 1, p. 1, doi. 10.1007/s004390050001

By:

Potterf, S. Brian;
Furumura, Minao;
Dunn, Karen J.;
Arnheiter, Heinz;
Pavan, William J.

Publication type:

Article