Works matching IS 00099163 AND DT 1986 AND VI 29 AND IP 5

Results: 44

DNA probes for linkage analysis of X linked diseases: Localisation of the disease locus for anhidrotic ectodermal dysplasia.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 458, doi. 10.1111/j.1399-0004.1986.tb00523.x

By:

Bolund, L.;
Ahrens, P.;
Albertsen, H.;
Jensen, P. K. A.;
Kruse, T. A.;
Kolvraa, S.

Publication type:

Article

The effect of consanguineous marriages on reproductive wastage.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 384, doi. 10.1111/j.1399-0004.1986.tb00509.x

By:

Al-Awadi, S. A.;
Naguib, K. K.;
Moussa, M. A.;
Farag, T. I.;
Teebi, A. S.;
El-Khalifa, M. Y.

Publication type:

Article

Germinal mosaicism in Apert syndrome.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 429, doi. 10.1111/j.1399-0004.1986.tb00516.x

By:

Allanson, Judith E.

Publication type:

Article

Genetic effects in offspring of cancer patients.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 469, doi. 10.1111/j.1399-0004.1986.tb00537.x

By:

Oftedal, Per;
Mulvihill, John

Publication type:

Article

RFLP studies in families with Duchenne muscular dystrophy.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 464, doi. 10.1111/j.1399-0004.1986.tb00531.x

By:

Lindlof, Mikael;
Kaariainen, Helena;
Chapelle, Albert de la

Publication type:

Article

A computerised register for Huntington's chorea in Denmark.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 460, doi. 10.1111/j.1399-0004.1986.tb00525.x

By:

Fenger, Kirsten;
Sørensen, S. A.

Publication type:

Article

Mutagenic effect of amniotic fluid from smoking women at term.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 471, doi. 10.1111/j.1399-0004.1986.tb00540.x

By:

Rivrud, G. R. O. Nylander;
Berg, Kare;
Anderson, Diana;
Blowers, Stephen;
Bjøro, Knut

Publication type:

Article

Cryptophthalmos - syndactyly syndrome without cryptophthalmos.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 413, doi. 10.1111/j.1399-0004.1986.tb00513.x

By:

Koenig, R.;
Spranger, J.

Publication type:

Article

Arthrogryposis and 46,XY, t(1;16) chromosome constitution.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 453, doi. 10.1111/j.1399-0004.1986.tb00521.x

By:

Serville, Françoise;
Dufau-Casanabe, José;
Fontan, Daniel

Publication type:

Article

De novo del(4) (p15.32) with incomplete expression of the Wolf-Hirschhorn syndrome.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 439, doi. 10.1111/j.1399-0004.1986.tb00518.x

By:

Castro-Felix, L. P.;
RamSrez, M. L.;
Valera-Huezo, S.;
Matute, E.;
Rivas, F.;
Rivera, H.;
Moller, M.;
Cantu, J. M.

Publication type:

Article

Restriction enzyme analysis of human HLA-linked C4-genes in the Finnish population.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 469, doi. 10.1111/j.1399-0004.1986.tb00538.x

By:

Partanen, J.;
Peltonen, L.;
Koskimies, S.

Publication type:

Article

Infantile type of sialic acid storage disease with sialuria.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 417, doi. 10.1111/j.1399-0004.1986.tb00514.x

By:

Paschke, E.;
Trinkl, G.;
Erwa, W.;
Pavelka, M.;
Mutz, I.;
Roscher, A.

Publication type:

Article

Linkage of transcobalamin II (TC2) to the P blood group system and assignment to chromosome 22.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 354, doi. 10.1111/j.1399-0004.1986.tb00504.x

By:

Eiberg, H.;
Møller, N.;
Mohr, J.;
Nielsen, L. S.

Publication type:

Article

Genetic counselling of Duchenne muscular dystrophy families based on analysis of flanking DNA markers.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 468, doi. 10.1111/j.1399-0004.1986.tb00536.x

By:

Nørby, Søren;
Schwartz, Marianne

Publication type:

Article

The prognostic implication of cytogenetic findings in non-Hodgkin lymphomas.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 464, doi. 10.1111/j.1399-0004.1986.tb00530.x

By:

Kristoffersson, Ulf;
Heim, Sverre;
Mandahl, Nils;
Mitelman, Felix;
Olsson, Håkan;
Ranstam, Jonas;
ÅKerman, Måns

Publication type:

Article

The fragile X chromosome: prenatal diagnosis.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 475, doi. 10.1111/j.1399-0004.1986.tb00545.x

By:

Tommerup, Niels

Publication type:

Article

Characterization of neoplasia-associated chromosome abnormalities by Southern blot analysis.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 462, doi. 10.1111/j.1399-0004.1986.tb00528.x

By:

Kere, J.;
Ruutu, T.;
Chapelle, A. de la

Publication type:

Article

Unspecific reactions of HLA-B antisera on fibroblasts from patients and carriers of Duchenne muscular dystrophy.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 369, doi. 10.1111/j.1399-0004.1986.tb00506.x

By:

Kirbach, E. D. Aragon de;
Willers, I.;
Singh, S.;
Goedde, H. W.

Publication type:

Article

Mapping status of cystic fibrosis.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 458, doi. 10.1111/j.1399-0004.1986.tb00524.x

By:

Eiberg, Hans;
Schmiegelow, Kjeld;
Mohr, Jan

Publication type:

Article

Polymorphism of type I collagen genes in the Finnish population.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 470, doi. 10.1111/j.1399-0004.1986.tb00539.x

By:

Peltonen, L.;
Ahti, H.;
Palotie, A.;
Ramirez, F.

Publication type:

Article

Cystic fibrosis - a search for the basic defect.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 463, doi. 10.1111/j.1399-0004.1986.tb00529.x

By:

Kollberg, H.;
Bardon, A.;
Ceder, O.

Publication type:

Article

Tricho-rhino-phalangeal syndrome without exostoses, with an interstitial deletion of 8q23.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 434, doi. 10.1111/j.1399-0004.1986.tb00517.x

By:

Goldblatt, J.;
Smart, R. D.

Publication type:

Article

Evaluation of urinary cells in acid cholesteryl ester hydrolase deficiency.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 360, doi. 10.1111/j.1399-0004.1986.tb00505.x

By:

Chatterjee, Subroto;
Castiglione, Elisabeth;
Kwiterovich, Peter O.;
Hoeg, Jeffrey M.;
Brewer, H. Bryan

Publication type:

Article

High-resolution banding: a study of 85 patients with mental retardation.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 474, doi. 10.1111/j.1399-0004.1986.tb00544.x

By:

Tengstrom, Carola;
Autio, Seppo;
Gripenberg, Ulla

Publication type:

Article

Use of Y chromosome specific probes to detect low level sex chromosome mosaicism.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 445, doi. 10.1111/j.1399-0004.1986.tb00519.x

By:

Tantravahi, Umadevi;
Bianchi, Diana W.;
Haley, Christine;
Destrempes, Margaret M.;
Ricker, Alyne T.;
Korf, Bruce R.;
Latt, Samuel A.

Publication type:

Article

Single abnormal cells may be interpreted as pseudomosaicism or mosaicism.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 467, doi. 10.1111/j.1399-0004.1986.tb00535.x

By:

Møixer, Pål;
Ormerod, Eli

Publication type:

Article

Fetal mortality in sibships of cases with neural tube defects.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 409, doi. 10.1111/j.1399-0004.1986.tb00512.x

By:

Sadovnick, A. D.;
Keena, B.;
Baird, P. A.;
Hall, J. G.

Publication type:

Article

Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 449, doi. 10.1111/j.1399-0004.1986.tb00520.x

By:

Schwartz, M.;
Christensen, Ernst;
Christensen, Niels C.;
Skovby, Flemming;
Davies, Kay E.;
Old, John M.

Publication type:

Article

235 cases of prenatal 1st trimester cytogenetic diagnosis based on transabdominal CVS.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 462, doi. 10.1111/j.1399-0004.1986.tb00527.x

By:

Hertz, J. M.;
Jensen, P. K. A.;
Therkelsen, A. J.

Publication type:

Article

Chromosome abnormalities in mesenchymal neoplasms.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 466, doi. 10.1111/j.1399-0004.1986.tb00534.x

By:

Mandahl, Nils;
Heim, Sverre;
Kristoffersson, Ulf;
Mitelman, Felix;
Rydholm, Anders

Publication type:

Article

Accumulation and defective β-oxidation of very long chain fatty acids in Zellweger's syndrome, adrenoleukodystrophy and Refsum's disease variants.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 397, doi. 10.1111/j.1399-0004.1986.tb00511.x

By:

Poulos, A.;
Singh, H.;
Paton, B.;
Sharp, P.;
Derwas, N.

Publication type:

Article

Studies on fragile X-mental retardation by the use of DNA probes.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 462, doi. 10.1111/j.1399-0004.1986.tb00526.x

By:

Goonewardena, P.;
Gustavson, K. H.;
Holmgren, G.;
Tolun, A.;
Chotai, J.;
Johnsen1, E.;
PetterssoN, U.

Publication type:

Article

Cockayne syndrome, early-onset type: clinical and cytogenetic findings.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 473, doi. 10.1111/j.1399-0004.1986.tb00543.x

By:

Somer, M.;
Rossi, L.;
Jousi, T.

Publication type:

Article

Heterozygote expression in Grebe Chondrodysplasia.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 455, doi. 10.1111/j.1399-0004.1986.tb00522.x

By:

Curtis, Diana

Publication type:

Article

The most profoundly retarded children in the county of Aarhus II. Etiologic and pathogenetic aspects.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 466, doi. 10.1111/j.1399-0004.1986.tb00533.x

By:

Lyngbye, TROELS;
Dahl, Gudrun;
Kristensen, Hella Koopmann

Publication type:

Article

Whole-arm t (X;17) (Xp17q;Xq17p) and gonadal dysgenesis.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 425, doi. 10.1111/j.1399-0004.1986.tb00515.x

By:

Rivera, H.;
Eníuquez-Guerra, M. A.;
ROLÓN, A.;
JIMÉNEZ-SÁINZ, M. E.;
Núñez-Gonzalez, L.;
Cantú, J. M.

Publication type:

Article

Prometaphase chromosome analysis as a routine diagnostic technique.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 378, doi. 10.1111/j.1399-0004.1986.tb00508.x

By:

Barnes, Islay C. S.;
Maltby, Edna L.

Publication type:

Article

Indication against genetic localisation of the human transcobalamin II gene (TC2) on chromosome 16.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 349, doi. 10.1111/j.1399-0004.1986.tb00503.x

By:

Gallmann, Martin;
Fráter-Schröder, Marijke;
Scheffrahn, Wolfgang;
Ott, Jürg;
Schmid, Balthasar;
Butler, Esther;
Biedermann, Vreni;
Kierat, Lucja

Publication type:

Article

Genetic screening for artificial insemination by donor (AID).

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 389, doi. 10.1111/j.1399-0004.1986.tb00510.x

By:

Selva, J.;
Leonard, C.;
Albert, M.;
Auger, J.;
David, G.

Publication type:

Article

Clinical use of DNA markers (RFLP) in genetic counselling and prenatal diagnosis of haemophilia A and B.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 472, doi. 10.1111/j.1399-0004.1986.tb00542.x

By:

Schwartz, Marianne;
Scheibel, Elma;
Din, Nanni

Publication type:

Article

Linkage between the loci for cystic fibrosis and paraoxonase.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 374, doi. 10.1111/j.1399-0004.1986.tb00507.x

By:

Schmiegelow, K.;
Eiberg, H.;
Tsui, L. -C.;
Buchwald, M.;
Phelan, P. D.;
Williamson, R.;
Warwick, W.;
Niebuhr, E.;
Mohr, J.;
Schwartz, M.;
Koch, C.

Publication type:

Article

Early diagnosis of Mb. Recklinghausen.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 465, doi. 10.1111/j.1399-0004.1986.tb00532.x

By:

Lyngbye, Troels;
Haugaard, Lars

Publication type:

Article

Linkage studies in choroideremia.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 471, doi. 10.1111/j.1399-0004.1986.tb00541.x

By:

Sankila, Eeva-Marja;
Kärnä, Jussi;
Forsius, Henrik;
Eriksson, Aldur;
Chapelle, Albert de la

Publication type:

Article

Effect of genetic factors on the variation in plasma concentration of antithrombin III: A twin study.

Published in:

Clinical Genetics, 1986, v. 29, n. 5, p. 475, doi. 10.1111/j.1399-0004.1986.tb00546.x

By:

Orstavik, K. H.;
Magnus, P.;
Maartmann-Moe, K.;
Berg, K.

Publication type:

Article