Works matching IS 00099163 AND DT 1992 AND VI 42 AND IP 3

Results: 12

Cleft palate and complex chromosome rearrangements.

Published in:

Clinical Genetics, 1992, v. 42, n. 3, p. 135, doi. 10.1111/j.1399-0004.1992.tb03225.x

By:

Kousseff, Boris G.;
Papenhausen, Peter;
Neu, Richard L.;
Essig, Yau-Ping;
Saraceno, Carmelo A.

Publication type:

Article

Autosomal recessive microcephaly with early onset seizures and spasticity.

Published in:

Clinical Genetics, 1992, v. 42, n. 3, p. 152, doi. 10.1111/j.1399-0004.1992.tb03228.x

By:

Silengo, M.;
Lerone, M.;
Martinelli, M.;
Martucciello, G.;
Caffarena, P. E.;
Jasonni, V.;
Romeo, G.

Publication type:

Article

Putative monosomy 21 in two patients: clinical findings and investigation using fluorescence in situ hybridization.

Published in:

Clinical Genetics, 1992, v. 42, n. 3, p. 105, doi. 10.1111/j.1399-0004.1992.tb03219.x

By:

Viljoen, Denis L.;
Speleman, Frank;
Smart, Ronald;
Roy, Nadine Van;
Toit, Joan;
Leroy, Jules

Publication type:

Article

Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features-another case of this new syndrome.

Published in:

Clinical Genetics, 1992, v. 42, n. 3, p. 110, doi. 10.1111/j.1399-0004.1992.tb03220.x

By:

Kalam, M. A.;
Hafeez, W.

Publication type:

Article

Enzyme deficiencies as the cause of hereditary nonspherocytic hemolytic anemia.

Published in:

Clinical Genetics, 1992, v. 42, n. 3, p. 160, doi. 10.1111/j.1399-0004.1992.tb03230.x

By:

Casado, A.;
Casado, Ma;
Torre, Ma R;
Lopéz-Fernandez, Ma E;
Carrascosa, D.

Publication type:

Article

Reassessment of a chromosome 12q + marker by fluorescent in situ hybridization (FISH).

Published in:

Clinical Genetics, 1992, v. 42, n. 3, p. 124, doi. 10.1111/j.1399-0004.1992.tb03223.x

By:

Jaziorowska, A.;
Houck, G. E.;
Yao, X.-L.;
Sklower-Brooks, S. L.;
Wisniewski, K. E.;
Jenkins, E. C.;
Wisniewski, H. M.

Publication type:

Article

Leber hereditary optic neuropathy: estimation of number of embryonic precursor cells and disease threshold in heterozygous affected females at the X-linked locus.

Published in:

Clinical Genetics, 1992, v. 42, n. 3, p. 143, doi. 10.1111/j.1399-0004.1992.tb03226.x

By:

Bu, Xiangdong;
Rotter, Jerome I.

Publication type:

Article

X chromosome inactivation patterns in haematopoietic cells of female carriers of X-linked severe combined immunodeficiency determined by methylation analysis at the hypervariable DXS255 locus.

Published in:

Clinical Genetics, 1992, v. 42, n. 3, p. 114, doi. 10.1111/j.1399-0004.1992.tb03221.x

By:

Hendrlks, R. W.;
Kraakman, M. E. M.;
Schuurman, R. K. B.

Publication type:

Article

Pseudohypoparathyroidism type I and Albright's hereditary osteodystrophy with a proximal 15q chromosomal deletion in mother and daughter.

Published in:

Clinical Genetics, 1992, v. 42, n. 3, p. 129, doi. 10.1111/j.1399-0004.1992.tb03224.x

By:

Hedeland, Hans;
Berntorp, Kerstin;
Arheden, Kristina;
Kristoffersson, Ulf

Publication type:

Article

The gene for Best's macular dystrophy is located at 11q13 in a Swedish family.

Published in:

Clinical Genetics, 1992, v. 42, n. 3, p. 156, doi. 10.1111/j.1399-0004.1992.tb03229.x

By:

Forsman, Kristina;
Graff, Caroline;
Nordström, Stefan;
Johansson, Kent;
Westermark, Eleonora;
Lundgren, Erik;
Gustavson, Karl-Henrik;
Wadelius, Claes;
Holmgren, Gösta

Publication type:

Article

Reproductive behaviour following spontaneous loss of a pregnancy after prenatal diagnosis.

Published in:

Clinical Genetics, 1992, v. 42, n. 3, p. 149, doi. 10.1111/j.1399-0004.1992.tb03227.x

By:

Brandenburg, Helen;
Groenhuijzen, Jolanda;
Jahoda, Milena G. J.;
Stijnen, Theo;
Ridder, Maria A. J.;
Sachs, Eva S.;
Wladimiroff, Juriy W.

Publication type:

Article

Prevalence of retinitis pigmentosa in Slovenia.

Published in:

Clinical Genetics, 1992, v. 42, n. 3, p. 122, doi. 10.1111/j.1399-0004.1992.tb03222.x

By:

Peterlin, B.;
Cankl-Klain, N.;
Morela, V.;
Stirn, B.;
Rainer, S.;
Cerar, V.

Publication type:

Article