Works matching IS 00099163 AND DT 1996 AND VI 50 AND IP 6

Results: 32

A new silent C to T polymorphism in the exon 3 of the oxytocin receptor gene.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 533, doi. 10.1111/j.1399-0004.1996.tb02731.x

By:

Liao, Wu-Xiang;
Roy, Ashim C.;
Biswas, Arijit;
Arulkumaran, Sabaratnam;
Ratnam, Shan S.

Publication type:

Article

Unusual segregation of t(11;22) resulting from crossing-over followed by 3:1 disjunction at meiosis I.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 515, doi. 10.1111/j.1399-0004.1996.tb02725.x

By:

Petković, Iskra;
Capoa, Adriana;
Giancotti, Paola;
Barišić, Ingeborg

Publication type:

Article

Increased paternal age in CHARGE association.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 548, doi. 10.1111/j.1399-0004.1996.tb02736.x

By:

Tellier, A.L.;
Lyonnet, S.;
Cormier-Daire, V.;
Lonlay, P.;
Abadie, V.;
Baumann, C.;
Bonneau, D.;
Labrune, Ph.;
Lacombe, D.;
Merrer, M. Le;
Nivelon, A.;
Philip, N.;
Briard, M. L.;
Munnich, A.

Publication type:

Article

A history of miscarriages and mild prognathism as possible mode of presentation of mosaic trisomy 18 in women.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 470, doi. 10.1111/j.1399-0004.1996.tb02714.x

By:

Satge, D.;
Geneix, A.;
Goburdhun, J.;
Lasne-Desmet, P.;
Rosenthal, C.;
Arnaud, R.;
Malet, P.

Publication type:

Article

Population variation at the polymorphic ApaLI restriction enzyme site in intron 5 of the WT1 gene.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 555, doi. 10.1111/j.1399-0004.1996.tb02738.x

By:

Besnard-Guérin, Corinne;
Winqvist, Robert;
Newsham, Irene;
Cavenee, Webster K.

Publication type:

Article

Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 520, doi. 10.1111/j.1399-0004.1996.tb02726.x

By:

Israëls, Trijn;
Hoovers, Jan;
Turpijn, Hanne M.;
Wijburg, Frits A.;
Hennekam, Raoul C. M.

Publication type:

Article

Dinucleotide repeat polymorphisms at D9S171 and D9S741 are identical.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 531, doi. 10.1111/j.1399-0004.1996.tb02730.x

By:

Xu, Su-Ying;
Schürmann, Manfred;
Gal, Andreas

Publication type:

Article

Tri-amelia and phocomelia with multiple malformations resembling Roberts syndrome in a fetus: is it a variant or a new syndrome?

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 502, doi. 10.1111/j.1399-0004.1996.tb02722.x

By:

Song, Sang-Yang;
Chi, Je G.

Publication type:

Article

High incidence of pre-excitation syndrome in Japanese families with Leber's hereditary optic neuropathy.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 535, doi. 10.1111/j.1399-0004.1996.tb02732.x

By:

Mashima, Yukihiko;
Kigasawa, Kazuteru;
Hasegawa, Hiroshi;
Tani, Masato;
Oguchi, Yoshihisa

Publication type:

Article

APC intragenic haplotypes in familial adenomatous polyposis.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 483, doi. 10.1111/j.1399-0004.1996.tb02717.x

By:

Almeida, Rosário;
Morton, Newton;
Fidalgo, Paulo;
Leitāo, Nobre;
Mira, Costa;
Rueff, José;
Monteiro, Carolino

Publication type:

Article

Silver-Russell syndrome and exclusion of uniparental disomy.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 494, doi. 10.1111/j.1399-0004.1996.tb02720.x

By:

Ayala-Madrigal, M. L.;
Shaffer, L. G.;
Ramírez-Dueñas, M. L.

Publication type:

Article

A new autosomal recessive syndrome of pachygyria.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 498, doi. 10.1111/j.1399-0004.1996.tb02721.x

By:

Straussberg, R.;
Gross, S.;
Amir, J.;
Gadoth, N.

Publication type:

Article

Insertion/deletion polymorphism in the angiotensin-converting-enzyme gene and blood pressure during ergometry in normal males.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 541, doi. 10.1111/j.1399-0004.1996.tb02734.x

By:

Friedl, Walter;
Krempler, Franz;
Sandhofer, Friedrich;
Paulweber, Bernhard

Publication type:

Article

Congenital scalp defect, distal limb reduction anomalies, right spastic hemiplegia and hypoplasia of the left arteria cerebri media: Further evidence that interruption of early embryonic blood supply may result in Adams-Oliver (plus) syndrome.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 505, doi. 10.1111/j.1399-0004.1996.tb02723.x

By:

Fryns, J. P.;
Legius, E.;
Demaerel, Ph.;
Berghe, H.

Publication type:

Article

Size of 22q deletions in four previously reported patients with conotruncal anomaly face syndrome.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 545, doi. 10.1111/j.1399-0004.1996.tb02735.x

By:

Pierpont, John W.;
Erickson, Robert P.;
Thompson, Floyd H.;
Yang, Jin-Ming

Publication type:

Article

Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 442, doi. 10.1111/j.1399-0004.1996.tb02709.x

By:

McGrory, J.;
Weksberg, R.;
Thorner, P.;
Cole, W. G.

Publication type:

Article

Frequent intragenic polymorphism in the 3' untranslated region of the lissencephaly gene 1 (LIS-1).

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 527, doi. 10.1111/j.1399-0004.1996.tb02728.x

By:

Koch, A.;
Tonn, J.;
Albrecht, S.;
Sörensen, N.;
Wiestler, O. D.;
Pietsch, T.

Publication type:

Article

Terminal deletion of the long arm of chromosome 4 in a mother and two sons.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 538, doi. 10.1111/j.1399-0004.1996.tb02733.x

By:

Descartes, Maria;
Keppler-Noreuil, Kim;
Knops, Judith;
Longshore, John W.;
Finley, Wayne H.;
Carroll, Andrew J.

Publication type:

Article

Craniofacial morphology of the tricho-dento-osseous syndrome.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 446, doi. 10.1111/j.1399-0004.1996.tb02710.x

By:

Kula, Katherine;
Hall, Kathie;
Hart, Thomas;
Wright, J. Tim

Publication type:

Article

Rett syndrome in Northern Tuscany (Italy): family tree studies.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 486, doi. 10.1111/j.1399-0004.1996.tb02718.x

By:

Pini, Giorgio;
Milan, Mario;
Zappella, Michele

Publication type:

Article

Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 479, doi. 10.1111/j.1399-0004.1996.tb02716.x

By:

Wegner, Rolf-Dieter;
Henrichs, Ivo;
Joenje, Hans;
Schroeder-Kurth, Traute

Publication type:

Article

Lack of association of angiotensin I-converting enzyme gene polymorphism and premature myocardial infarction in Mauritian Indians.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 551, doi. 10.1111/j.1399-0004.1996.tb02737.x

By:

Ramasawmy, Rajendranath;
Manraj, Meera;
Kotea, Navaratnam;
Shun, Nathalie Kok;
Genin, Emmanuelle;
Feingold, Josué;
Krishnamoorthy, Rajagopal;
Baligadoo, Sooriahnarain

Publication type:

Article

Partial deletion of the long arm of chromosome 11: ten Japanese children.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 474, doi. 10.1111/j.1399-0004.1996.tb02715.x

By:

Ono, Jiro;
Hasegawa, Tomoko;
Sugama, Seiichi;
Sagehashi, Nobuyuki;
Hase, Yutaka;
Oku, Kikuko;
Endo, Yuko;
Ohdo, Shozo;
Ishikiriyama, Satoshi;
Tsukamoto, Hiroko;
Okada, Shintaro

Publication type:

Article

Respiratory complications of Ehlers-Danlos syndrome type IV.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 510, doi. 10.1111/j.1399-0004.1996.tb02724.x

By:

Dowton, S. Bruce;
Pincott, Stuart;
Demmer, Lurie

Publication type:

Article

Identification of a double mutation in the low-density lipoprotein receptor gene causing familial hypercholesterolemia.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 525, doi. 10.1111/j.1399-0004.1996.tb02727.x

By:

Lombardi, P.;
Kamerling, S. W. A.;
Defesche, J. C.;
Kastelein, J. J. P.;
Havekes, L. M.

Publication type:

Article

Short sequence repeats in intron 2 of the insulin receptor gene among black and white South Africans.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 529, doi. 10.1111/j.1399-0004.1996.tb02729.x

By:

Panz, V. R.;
Kedda, M. A.;
Joffe, B. I.

Publication type:

Article

Further evidence of genetic heterogeneity in hereditary hydronephrosis.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 491, doi. 10.1111/j.1399-0004.1996.tb02719.x

By:

McHale, Duncan;
Porteous, Mary E. M.;
Wentzel, John;
Bum, John

Publication type:

Article

Outcomes and process in genetic counselling.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 462, doi. 10.1111/j.1399-0004.1996.tb02713.x

By:

Clarke, Angus;
Parsons, Evelyn;
Williams, Allison

Publication type:

Article

CFC syndrome: report of familial cases.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 558, doi. 10.1111/j.1399-0004.1996.tb02739.x

By:

Lecora, Margherita;
Parenti, Giancarlo;
Andria, Generoso

Publication type:

Article

Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 455, doi. 10.1111/j.1399-0004.1996.tb02711.x

By:

Fagerlund, T.H.;
Islander, G.;
Ranklev-Twetman, E.;
Berg, K.

Publication type:

Article

Primed IN Situ labelling (PRINS) as a rational procedure for identification of marker chromosomes using a panel of primers differentially tagging the human chromosomes.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 437, doi. 10.1111/j.1399-0004.1996.tb02708.x

By:

Hindkjær, J.;
Brandt, C. A.;
Strømkjær, H.;
Koch, J.;
Kølvraa, S.;
Bolund, L.

Publication type:

Article

The apolipoprotein E gene in Binswanger's disease and vascular dementia.

Published in:

Clinical Genetics, 1996, v. 50, n. 6, p. 459, doi. 10.1111/j.1399-0004.1996.tb02712.x

By:

Higuchi, Susumu;
Arai, Hiroyuki;
Nakagawa, Takuma;
Muramatsu, Taro;
Sasaki, Hidetada;
Trojanowski, John Q.

Publication type:

Article