Works matching IS 00099163 AND DT 1995 AND VI 48 AND IP 1

Results: 11

Interstitial deletion of 8p: report of two patients and review of the literature.

Published in:

Clinical Genetics, 1995, v. 48, n. 1, p. 41, doi. 10.1111/j.1399-0004.1995.tb04052.x

By:

Tsukahara, Masato;
Murano, Ichiro;
Aoki, Yoshiharu;
Kajii, Tadashi;
Furukawa, Susumu

Publication type:

Article

Complexity of molecular genetics of dyslipidemia in a family highly susceptible to ischemic heart disease.

Published in:

Clinical Genetics, 1995, v. 48, n. 1, p. 23, doi. 10.1111/j.1399-0004.1995.tb04049.x

By:

Jensen, H. K.;
Hansen, P. S.;
Jensen, L. G.;
Kristensen, M. J.;
Klausen, I. C.;
Kjeldsen, M.;
Lemming, L.;
Bolund, L.;
Gregersen, N.;
Færgeman, O.

Publication type:

Article

Molecular characterization of trisomic segment 3p24.1→3pter: a case with review of the literature.

Published in:

Clinical Genetics, 1995, v. 48, n. 1, p. 49, doi. 10.1111/j.1399-0004.1995.tb04054.x

By:

Conte, Robert A.;
Pitter, Jean H.;
Verma, Ram S.

Publication type:

Article

A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia.

Published in:

Clinical Genetics, 1995, v. 48, n. 1, p. 12, doi. 10.1111/j.1399-0004.1995.tb04047.x

By:

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

Publication type:

Article

Clinical traits and molecular findings in 46,XX males.

Published in:

Clinical Genetics, 1995, v. 48, n. 1, p. 29, doi. 10.1111/j.1399-0004.1995.tb04050.x

By:

López, Marisol;
Torres, Leda;
Méndez, Juan Pablo;
Cervantes, Alicia;
Pérez-Palacios, Gregorio;
Erickson, Robert P.;
Alfaro, Guillermo;
Kofman-Alfaro, Susana

Publication type:

Article

Aarskog syndrome: severe neurological deficit with spastic hemiplegia resulting from perinatal cerebrovascular accidents in two non-related males.

Published in:

Clinical Genetics, 1995, v. 48, n. 1, p. 54, doi. 10.1111/j.1399-0004.1995.tb04055.x

By:

Fryns, J. P.;
Descheemaeker, M. J.

Publication type:

Article

Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia.

Published in:

Clinical Genetics, 1995, v. 48, n. 1, p. 35, doi. 10.1111/j.1399-0004.1995.tb04051.x

By:

Günthard, Joëlle;
Fliegel, Christian;
Ohnacker, Helmut;
Rutishauser, Markus;
Bühler, Erika

Publication type:

Article

Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M.

Published in:

Clinical Genetics, 1995, v. 48, n. 1, p. 46, doi. 10.1111/j.1399-0004.1995.tb04053.x

By:

Kraakman, Margriet E. M.;
Weers, Michel;
Español, Teresa;
Schuurman, Ruud K. B.;
Hendriks, Rudolf W.

Publication type:

Article

Parental origin of the X chromosome, X chromosome mosaicism and screening for 'hidden' Y chromosome in 45,X Turner syndrome ascertained cytogenetically.

Published in:

Clinical Genetics, 1995, v. 48, n. 1, p. 6, doi. 10.1111/j.1399-0004.1995.tb04046.x

By:

Larsen, Torben;
Gravholt, Claus Højbjerg;
Tillebeck, Annette;
Larsen, Hanne;
Jensen, Marianne Bryder;
Nielsen, Johannes;
Friedrich, Ursula

Publication type:

Article

Health care utilization and perceptions of health among adolescents and adults with Turner syndrome.

Published in:

Clinical Genetics, 1995, v. 48, n. 1, p. 17, doi. 10.1111/j.1399-0004.1995.tb04048.x

By:

Cunniff, Christopher;
Hassed, Susan J.;
Hendon, Amy E.;
Rickert, Vaughn I.

Publication type:

Article

Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings - a new recessive syndrome?

Published in:

Clinical Genetics, 1995, v. 48, n. 1, p. 1, doi. 10.1111/j.1399-0004.1995.tb04045.x

By:

Strómme, P.;
Stokke, O.;
Jellum, E.;
Skjeldal, O.K.;
Baumgartner, R.

Publication type:

Article