Works matching IS 00099163 AND DT 2000

Results: 187

Ectodermal dysplasias: not only ‘skin’ deep.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 415, doi. 10.1034/j.1399-0004.2000.580601.x

By:

Priolo, M;
Silengo, M;
Lerone, M;
Ravazzolo, R

Publication type:

Article

Factors influencing sib risks for Multiple Sclerosis.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 431, doi. 10.1034/j.1399-0004.2000.580602.x

By:

Sadovnick, AD;
Yee, IML;
Ebers, GC

Publication type:

Article

An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 436, doi. 10.1034/j.1399-0004.2000.580603.x

By:

Peñaherrera, Ms;
Barrett, IJ;
Brown, CJ;
Langlois, S;
Yong, S-L;
Lewis, S;
Bruyère, H;
Howard-Peebles, PN;
Kalousek, DK;
Robinson, WP

Publication type:

Article

A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 447, doi. 10.1034/j.1399-0004.2000.580604.x

By:

Järvinen, O;
Hietala, M;
Aalto, A-M;
Arvio, M;
Uutela, A;
Aula, P;
Kääriäinen, H

Publication type:

Article

Influence of 699C→T and 1080C→T polymorphisms of the cystathionine β-synthase gene on plasma homocysteine levels.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 455, doi. 10.1034/j.1399-0004.2000.580605.x

By:

Aras, Ö;
Hanson, NQ;
Yang, F;
Tsai, MY

Publication type:

Article

Cancer worries, risk perceptions and associations with interest in DNA testing and clinic satisfaction in a familial colorectal cancer clinic.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 460, doi. 10.1034/j.1399-0004.2000.580606.x

By:

Collins, V;
Halliday, J;
Warren, R;
Williamson, R

Publication type:

Article

Polymorphisms in the CAG repeat – a source of error in Huntington disease DNA testing.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 469, doi. 10.1034/j.1399-0004.2000.580607.x

By:

Yu, S;
Fimmel, A;
Fung, D;
Trent, RJ

Publication type:

Article

Exclusion of chromosome 15q21.1 in autosomal-recessive Weill–Marchesani syndrome in an inbred Lebanese family.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 473, doi. 10.1034/j.1399-0004.2000.580608.x

By:

Mégarbané, A;
Mustapha, M;
Bleik, J;
Waked, N;
Delague, V;
Loiselet, J

Publication type:

Article

Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 479, doi. 10.1034/j.1399-0004.2000.580609.x

By:

Peverall, J;
Edkins, E;
Goldblatt, J;
Murch, A

Publication type:

Article

A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 483, doi. 10.1034/j.1399-0004.2000.580610.x

By:

de Vries, Bba;
Bitner-Glindzicz, M;
Knight, Sjl;
Tyson, J;
MacDermot, Kd;
Flint, J;
Malcolm, S;
Winter, Rm

Publication type:

Article

Segregation of a supernumerary del(15) marker chromosome in sperm.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 488, doi. 10.1034/j.1399-0004.2000.580611.x

By:

Cotter, PD;
Ko, E;
Larabell, SK;
Rademaker, AW;
Martin, RH

Publication type:

Article

Ventricular septal defect associated with microdeletions of chromosome 22q11.2.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 493, doi. 10.1034/j.1399-0004.2000.580612.x

By:

Yamagishi, H;
Maeda, J;
Tokumura, M;
Yoshiba, S;
Takahashi, E;
Fukushima, H;
Yamagishi, C;
Matsuo, N;
Kojima, Y

Publication type:

Article

Insights into the pathogenesis of neurofibromatosis 1 vasculopathy.

Published in:

Clinical Genetics, 2000, v. 58, n. 5, p. 341, doi. 10.1034/j.1399-0004.2000.580501.x

By:

Hamilton, SJ;
Friedman, JM

Publication type:

Article

The vasculopathy of NF1 and histogenesis control genes.

Published in:

Clinical Genetics, 2000, v. 58, n. 5, p. 345, doi. 10.1034/j.1399-0004.2000.580502.x

By:

Riccardi, VM

Publication type:

Article

Huntington's disease on a GeneChip.

Published in:

Clinical Genetics, 2000, v. 58, n. 5, p. 348, doi. 10.1034/j.1399-0004.2000.580503.1.x

By:

Nasir, J

Publication type:

Article

A glutamine-rich protein involved in Notch signalling.

Published in:

Clinical Genetics, 2000, v. 58, n. 5, p. 349, doi. 10.1034/j.1399-0004.2000.580503.2.x

By:

Nasir, J

Publication type:

Article

Testing all possible protein–protein interactions in yeast.

Published in:

Clinical Genetics, 2000, v. 58, n. 5, p. 350, doi. 10.1034/j.1399-0004.2000.580503.3.x

By:

Nasir, J

Publication type:

Article

The causes and consequences of random and non-random X chromosome inactivation in humans.

Published in:

Clinical Genetics, 2000, v. 58, n. 5, p. 353, doi. 10.1034/j.1399-0004.2000.580504.x

By:

Brown, CJ;
Robinson, WP

Publication type:

Article

Hugo Ethics Committee statement on benefit sharing.

Published in:

Clinical Genetics, 2000, v. 58, n. 5, p. 364, doi. 10.1034/j.1399-0004.2000.580505.x

By:

Knoppers, Bartha Maria;
Chadwick, Ruth;
Takebe, Hiraku;
Berg, Kare;
Cantu, Jose Maria;
Daar, Abdallah S.;
Engels, Eve Marie;
Kirby, Michael;
Macer, Darryl;
Murray, Thomas H.;
Qui, Ren-Zong;
Wertz, Doherty C.;
Berma, Ishwar C.

Publication type:

Article

Benefit-sharing and other protections for communities in genetic research.

Published in:

Clinical Genetics, 2000, v. 58, n. 5, p. 367, doi. 10.1034/j.1399-0004.2000.580506.x

By:

Weijer, C

Publication type:

Article

The common mutations in the lipoprotein lipase gene in Italy: effects on plasma lipids and angiographically assessed coronary atherosclerosis.

Published in:

Clinical Genetics, 2000, v. 58, n. 5, p. 369, doi. 10.1034/j.1399-0004.2000.580507.x

By:

Arca, M;
Campagna, F;
Montali, A;
Barillà, F;
Mangieri, E;
Tanzilli, G;
Seccareccia, F;
Campa, PP;
Ricci, G;
Pannitteri, G

Publication type:

Article

A multivariate analysis of 59 candidate genes in personality traits: the temperament and character inventory.

Published in:

Clinical Genetics, 2000, v. 58, n. 5, p. 375, doi. 10.1034/j.1399-0004.2000.580508.x

By:

Comings, DE;
Gade-Andavolu, R;
Gonzalez, N;
Wu, S;
Muhleman, D;
Blake, H;
Mann, MB;
Dietz, G;
Saucier, G;
MacMurray, JP

Publication type:

Article

Sudden death caused by pulmonary thromboembolism in Proteus syndrome.

Published in:

Clinical Genetics, 2000, v. 58, n. 5, p. 386, doi. 10.1034/j.1399-0004.2000.580509.x

By:

Slavotinek, AM;
Vacha, SJ;
Peters, KF;
Biesecker, LG

Publication type:

Article

Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia.

Published in:

Clinical Genetics, 2000, v. 58, n. 5, p. 390, doi. 10.1034/j.1399-0004.2000.580510.x

By:

Prasad, C;
Cramer, BC;
Pushpanathan, C;
Crowley, MC;
Ives, EJ

Publication type:

Article

Mutational analysis and genotype/phenotype correlation in Turkish Charcot–Marie–Tooth Type 1 and HNPP patients.

Published in:

Clinical Genetics, 2000, v. 58, n. 5, p. 396, doi. 10.1034/j.1399-0004.2000.580511.x

By:

Bissar-Tadmouri, N;
Parman, Y;
Boutrand, L;
Deymeer, F;
Serdaroglu, P;
Vandenberghe, A;
Battaloglu, E

Publication type:

Article

Velo-cardio-facial phenotype and deletion of 22q11.2 in Hungarian children.

Published in:

Clinical Genetics, 2000, v. 58, n. 5, p. 403, doi. 10.1034/j.1399-0004.2000.580512.x

By:

Morava, É;
Czakó, M;
Melegh, B;
Kosztolányi, G

Publication type:

Article

The frequency of the C677T substitution in the methylenetetrahydrofolate reductase gene in Manitoba.

Published in:

Clinical Genetics, 2000, v. 58, n. 5, p. 406, doi. 10.1034/j.1399-0004.2000.580513.x

By:

Mogk, Rl;
Rothenmund, H;
Evans, JA;
Carson, N;
Dawson, AJ

Publication type:

Article

Glycogen storage disease type Ia and Sanfilippo syndrome type B in a patient with a balanced translocation.

Published in:

Clinical Genetics, 2000, v. 58, n. 5, p. 409, doi. 10.1034/j.1399-0004.2000.580514.x

By:

Wenger, SL;
McIntire, SC;
Bansal, V;
Barranger, JA;
Higgins, J;
Balistreri, WF;
Thompson, JN;
Deka, R

Publication type:

Article

Familial amyloid polyneuropathy in a Spanish family with a transthyretin deletion (ΔVal 122) presenting with carpal tunnel syndrome.

Published in:

Clinical Genetics, 2000, v. 58, n. 5, p. 411, doi. 10.1034/j.1399-0004.2000.580515.x

By:

Munar-Qués, M;
Saraiva, MJ;
Ordeig-Calonge, J;
Moreira, P;
Pérez-Vidal, R;
Puig-Pujol, X;
Monells-Abel, J;
Badal-Alter, JM

Publication type:

Article

Pedigree parables.

Published in:

Clinical Genetics, 2000, v. 58, n. 4, p. 241, doi. 10.1034/j.1399-0004.2000.580401.x

By:

Bennett, RL

Publication type:

Article

Single nucleotide polymorphisms and the future of genetic epidemiology.

Published in:

Clinical Genetics, 2000, v. 58, n. 4, p. 250, doi. 10.1034/j.1399-0004.2000.580402.x

By:

Schork, Nicholas J;
Fallin, Daniele;
Lanchbury, Jerry S

Publication type:

Article

Repairing the genomic defect in muscular dystrophy.

Published in:

Clinical Genetics, 2000, v. 58, n. 4, p. 265, doi. 10.1034/j.1399-0004.2000.580403.1.x

By:

Leavitt, Blair

Publication type:

Article

Shedding new light on the pathogenesis of familial Alzheimer disease.

Published in:

Clinical Genetics, 2000, v. 58, n. 4, p. 266, doi. 10.1034/j.1399-0004.2000.580403.2.x

By:

Leavitt, Blair

Publication type:

Article

Microbubbles used to ‘pop’ new gene into the heart.

Published in:

Clinical Genetics, 2000, v. 58, n. 4, p. 269, doi. 10.1034/j.1399-0004.2000.580403.3.x

By:

Leavitt, Blair

Publication type:

Article

Collagens: building blocks at the end of the development line.

Published in:

Clinical Genetics, 2000, v. 58, n. 4, p. 270, doi. 10.1034/j.1399-0004.2000.580404.x

By:

Byers, PH

Publication type:

Article

Genetic landmarks through philately – Barbara McClintock.

Published in:

Clinical Genetics, 2000, v. 58, n. 4, p. 280, doi. 10.1034/j.1399-0004.2000.580405.x

By:

Briggs, KJ;
Chudley, AE

Publication type:

Article

Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counselling.

Published in:

Clinical Genetics, 2000, v. 58, n. 4, p. 284, doi. 10.1034/j.1399-0004.2000.580406.x

By:

Buiting, K;
Färber, C;
Kroisel, P;
Wagner, K;
Brueton, L;
Robertson, ME;
Lich, C;
Horsthemke, B

Publication type:

Article

Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP).

Published in:

Clinical Genetics, 2000, v. 58, n. 4, p. 291, doi. 10.1034/j.1399-0004.2000.580407.x

By:

Xu, M-Q;
Feldman1,, G;
Le Merrer, M;
Shugart, YY;
Glaser, DL;
Urtizberea, JA;
Fardeau, M;
Connor, JM;
Triffitt, J;
Smith, R;
Shore, EM;
Kaplan, FS

Publication type:

Article

A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center.

Published in:

Clinical Genetics, 2000, v. 58, n. 4, p. 299, doi. 10.1034/j.1399-0004.2000.580408.x

By:

Gilpin, CA;
Carson, N;
Hunter, AGW

Publication type:

Article

Clitoris and labia minora agenesis – an undescribed malformation.

Published in:

Clinical Genetics, 2000, v. 58, n. 4, p. 336, doi. 10.1034/j.1399-0004.2000.580414.x

By:

Martinón-Torres, Federico;
Marı, Jose;
Martinón-Sánchez, Federico

Publication type:

Article

Low density lipoprotein receptor-related protein gene polymorphisms and risk for late-onset Alzheimer's disease in a Japanese population.

Published in:

Clinical Genetics, 2000, v. 58, n. 4, p. 319, doi. 10.1034/j.1399-0004.2000.580410.x

By:

Hatanaka, Y;
Kamino, K;
Fukuo, K;
Mitsuda, N;
Nishiwaki-Ueda, Y;
Sato, N;
Satoh, T;
Yamamoto, H;
Yoneda, H;
Imagawa, M;
Miki, T;
Ohta, S;
Ogihara, T

Publication type:

Article

Familial t(6;21)(p21.1;p13) translocation associated with male-only sterility.

Published in:

Clinical Genetics, 2000, v. 58, n. 4, p. 324, doi. 10.1034/j.1399-0004.2000.580411.x

By:

Paoloni-Giacobino, A;
Kern, I;
Rumpler, Y;
Djlelati, R;
Morris, MA;
Dahoun, SP

Publication type:

Article

Linkage and candidate gene analysis of autosomal-dominant familial exudative vitreoretinopathy.

Published in:

Clinical Genetics, 2000, v. 58, n. 4, p. 329, doi. 10.1034/j.1399-0004.2000.580412.x

By:

Shastry, BS;
Hejtmancik, JF;
Hiraoka, M;
Ibaraki, N;
Okubo, Y;
Okubo, A;
Han, DP;
Trese, MT

Publication type:

Article

The incidence of cystic fibrosis (CF) mutations among patients from Croatia.

Published in:

Clinical Genetics, 2000, v. 58, n. 4, p. 333, doi. 10.1034/j.1399-0004.2000.580413.x

By:

Tanacković, G;
Barišić, I;
Gjergja-Matejić, R;
Hećimović, S;
Pavelić, J

Publication type:

Article

Optimization of the fluorescence in situ hybridization (FISH) technique for high detection efficiency of very small proportions of target interphase nuclei.

Published in:

Clinical Genetics, 2000, v. 58, n. 4, p. 309, doi. 10.1034/j.1399-0004.2000.580409.x

By:

Yan, J;
Guilbault, E;
Massé, J;
Bronsard, M;
DeGrandpré, P;
Forest, J-C;
Drouin, R

Publication type:

Article

Determination of the frequency of the 35delG allele in Brazilian neonates.

Published in:

Clinical Genetics, 2000, v. 58, n. 4, p. 339, doi. 10.1034/j.1399-0004.2000.580415.x

By:

Sartorato, Edi lúcia;
Gottardi, Elena;
de Oliveira, Camila Andréa;
Magna, Luis Alberto;
Annichino-Bizzacchi, Joyce Maria;
Seixas, Carlos Augusto;
Maciel-Guerra, Andrea Trevas

Publication type:

Article

The clinical significance of fragile sites on human chromosomes.

Published in:

Clinical Genetics, 2000, v. 58, n. 3, p. 157, doi. 10.1034/j.1399-0004.2000.580301.x

By:

Sutherland, GR;
Baker, E

Publication type:

Article

The road less traveled: functional recovery from neurodegeneration.

Published in:

Clinical Genetics, 2000, v. 58, n. 3, p. 162, doi. 10.1034/j.1399-0004.2000.580302.1.x

By:

Wellington, C

Publication type:

Article

Pseudoxanthoma elasticum arises from mutations in an ABC transporter family member, ABCC6.

Published in:

Clinical Genetics, 2000, v. 58, n. 3, p. 164, doi. 10.1034/j.1399-0004.2000.580302.2.x

By:

Singaraja, R

Publication type:

Article

What we have learned from the DNA sequences of human chromosomes 21 and 22.

Published in:

Clinical Genetics, 2000, v. 58, n. 3, p. 166, doi. 10.1034/j.1399-0004.2000.580302.3.x

By:

Brunham, L

Publication type:

Article