Works matching IS 00099163 AND DT 1992 AND VI 42 AND IP 1

Results: 15

Pitted enamel hypoplasia in tuberous sclerosis.

Published in:

Clinical Genetics, 1992, v. 42, n. 1, p. 50, doi. 10.1111/j.1399-0004.1992.tb03137.x

By:

Sampson, J. R.;
Attwood, D.;
Mughery, A. S. Al;
Reid, J. S.

Publication type:

Article

DNA screening of hyperlipidemic Afrikaners for familial hypercholesterolemia.

Published in:

Clinical Genetics, 1992, v. 42, n. 1, p. 43, doi. 10.1111/j.1399-0004.1992.tb03135.x

By:

Kotze, M. J.;
Langenhoven, E.;
Kriek, J. A.;
Oosthuizen, C. J. J.;
Retief, A. E.

Publication type:

Article

Confirmation of true mosaic trisomy 20 in a phenotypically normal liveborn male.

Published in:

Clinical Genetics, 1992, v. 42, n. 1, p. 47, doi. 10.1111/j.1399-0004.1992.tb03136.x

By:

Brothman, Arthur R.;
Rehberg, Kimberly;
Storto, Patrick D.;
Phillips, Susan E.;
Mosby, Robert T.

Publication type:

Article

Linkage analysis in properdin deficiency families: refined location in proximal Xp.

Published in:

Clinical Genetics, 1992, v. 42, n. 1, p. 8, doi. 10.1111/j.1399-0004.1992.tb03126.x

By:

Wadelius, Claes;
Pigg, Maritta;
Sundvall, Mats;
Sjöholm, Anders G.;
Goonewardena, Ponmani;
Kuijper, Ed J.;
Tijssen, Cees C.;
Jansz, Anton;
Späth, Peter J.;
Schaad, Ulf B.;
Tranebjaerg, Lisbeth;
Nielsen, Hans E.;
Söderström, Claos;
Annerén, Göran;
Pettersson, Ulf

Publication type:

Article

Time of pubertal onset, testosterone levels and intelligence in 47,XXY males.

Published in:

Clinical Genetics, 1992, v. 42, n. 1, p. 31, doi. 10.1111/j.1399-0004.1992.tb03132.x

By:

Netley, C.

Publication type:

Article

Consanguineous marriages among parents of Down patients.

Published in:

Clinical Genetics, 1992, v. 42, n. 1, p. 13, doi. 10.1111/j.1399-0004.1992.tb03127.x

By:

Başaran, Nurettin;
Cenani, A.;
Şayli, B. S.;
Özkinay, C.;
Artan, S.;
Seven, H.;
Başaran, A.;
Dinçer, S.

Publication type:

Article

DNA deletion in patients with von Recklinghausen neurofibromatosis.

Published in:

Clinical Genetics, 1992, v. 42, n. 1, p. 53, doi. 10.1111/j.1399-0004.1992.tb03138.x

By:

Kamei, T.;
Fukushima, Y.;
Shibata, A.;
Hayashi, Y.;
Tachibana, N.;
Takeda, I.;
Niikawa, N.;
Collins, F. S.;
Takahashi, K.;
Masumura, S.

Publication type:

Article

Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier.

Published in:

Clinical Genetics, 1992, v. 42, n. 1, p. 35, doi. 10.1111/j.1399-0004.1992.tb03133.x

By:

Muntoni, Francesco;
Mateddu, Anna;
Marrosu, Maria Giovanna;
Cau, Miiena;
Congiu, Rita;
Melis, Maria Antonietta;
Cao, Antonio;
Cianchetti, Carlo

Publication type:

Article

Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis Type II - a family study.

Published in:

Clinical Genetics, 1992, v. 42, n. 1, p. 39, doi. 10.1111/j.1399-0004.1992.tb03134.x

By:

Yoneyama, Tatsuo;
Fowler, Hilton L.;
Pendleton, John W.;
Sforza, Peter P.;
Gerard, Roy D.;
Lui, Charles Y.;
Eldridge, Thomas H.;
Iranmanesh, All

Publication type:

Article

Congenital hypertrophy of retinal pigment epithelium in patients with colonic polyps associated with cancer family syndrome.

Published in:

Clinical Genetics, 1992, v. 42, n. 1, p. 16, doi. 10.1111/j.1399-0004.1992.tb03128.x

By:

Houlston, R. S.;
Fallon, T.;
Harocopos, C.;
Williams, C. B.;
Davey, C.;
Slack, J.

Publication type:

Article

Amyloidogenic and non-amyloidogenic transthyretin Asn 90 variants.

Published in:

Clinical Genetics, 1992, v. 42, n. 1, p. 27, doi. 10.1111/j.1399-0004.1992.tb03131.x

By:

Alves, I. L.;
Almeida, M. R.;
Skare, J.;
Skinner, M.;
Kurose, K.;
Sakaki, Y.;
Costa, P. P.;
Saraiva, M. J. M.

Publication type:

Article

Wolman disease: morphological, clinical and genetic studies on the first Scandinavian cases.

Published in:

Clinical Genetics, 1992, v. 42, n. 1, p. 1, doi. 10.1111/j.1399-0004.1992.tb03125.x

By:

Röyttä, M.;
Fagerlund, A. S.;
Toikkanen, S.;
Salmi, T. T.;
Jorde, L. B.;
Forsius, H. R.;
Eriksson, A. W.

Publication type:

Article

A fragile X family with high penetrance in females: risk heterogeneity?

Published in:

Clinical Genetics, 1992, v. 42, n. 1, p. 22, doi. 10.1111/j.1399-0004.1992.tb03130.x

By:

Martínez, Francisco;
Badía, Lourdes;
Prieto, Félix

Publication type:

Article

Autism and ring chromosome 18 mosaicism.

Published in:

Clinical Genetics, 1992, v. 42, n. 1, p. 55, doi. 10.1111/j.1399-0004.1992.tb03139.x

By:

Fryns, Jean-Pierre;
Kleczkowska, Alice

Publication type:

Article

Congenital heart defects, hamartomas of the tongue and polysyndactyly in a sister and brother.

Published in:

Clinical Genetics, 1992, v. 42, n. 1, p. 19, doi. 10.1111/j.1399-0004.1992.tb03129.x

By:

Örstavik, Karen Helene;
Lindemann, Ralf;
Solberg, Lars Åge;
Foerster, Arnold;
Sørland, Svein Jan

Publication type:

Article