Works matching IS 00099163 AND DT 2000 AND VI 57 AND IP 2

Results: 14

Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr<sub>302</sub>>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL<sub>Olbia</sub>).

Published in:

Clinical Genetics, 2000, v. 57, n. 2, p. 140, doi. 10.1034/j.1399-0004.2000.570209.x

By:

Bertolini, S;
Simone, Ml;
Pes, Gm;
Ghisellini, M;
Rolleri, M;
Bellocchio, A;
Elicio, N;
Masturzo, P;
Calandra, S

Publication type:

Article

Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus.

Published in:

Clinical Genetics, 2000, v. 57, n. 2, p. 148, doi. 10.1034/j.1399-0004.2000.570210.x

By:

Becker, R;
Wegner, R-D;
Kunze, J;
Runkel, S;
Vogel, M;
Entezami, M

Publication type:

Article

Mutations in a 10-bp polyadenine repeat of transforming growth factor β-receptor type II gene is an infrequent event in human epithelial ovarian cancer.

Published in:

Clinical Genetics, 2000, v. 57, n. 2, p. 151, doi. 10.1034/j.1399-0004.2000.570211.x

By:

Manderson, EN;
Mes-Masson, A-M;
Provencher, D;
Tonin, PN

Publication type:

Article

Differentiation of Ambras syndrome from Hypertrichosis Universalis.

Published in:

Clinical Genetics, 2000, v. 57, n. 2, p. 157, doi. 10.1034/j.1399-0004.2000.570213.x

By:

Baumeister, FAM

Publication type:

Article

The X-linked IAP gene does not contribute to the clinical phenotype of spinal muscular atrophy.

Published in:

Clinical Genetics, 2000, v. 57, n. 2, p. 154, doi. 10.1034/j.1399-0004.2000.570212.x

By:

Martín, Y;
Valero, A;
López-Terradas, JM;
Marsal, C;
Hernández-Chico, C

Publication type:

Article

Down syndrome: genetic recombination and the origin of the extra chromosome 21.

Published in:

Clinical Genetics, 2000, v. 57, n. 2, p. 95, doi. 10.1034/j.1399-0004.2000.570201.x

By:

Hassold, Terry;
Sherman, Stephanie

Publication type:

Article

Hallowed beginning.

Published in:

Clinical Genetics, 2000, v. 57, n. 2, p. 101, doi. 10.1034/j.1399-0004.2000.570202.x

By:

Lemire, Edmond G;
Chudley, Albert E

Publication type:

Article

Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.

Published in:

Clinical Genetics, 2000, v. 57, n. 2, p. 103, doi. 10.1034/j.1399-0004.2000.570203.x

By:

Prasad, Chitra;
Prasad, Asuri N;
Chodirker, Bernard N;
Lee, Christine;
Dawson, Angelika K;
Jocelyn, Leslie J;
Chudley, Albert E

Publication type:

Article

Functional characterization of two low density lipoprotein receptor gene mutations by fluorescence flow cytometric assessment of receptor activity in stimulated human T-lymphocytes.

Published in:

Clinical Genetics, 2000, v. 57, n. 2, p. 110, doi. 10.1034/j.1399-0004.2000.570204.x

By:

Raungaard, Bent;
Kjærulf Jensen, Henrik;
Uffe Brorholt-Petersen, Jens;
Heath, Finn;
Færgeman, Ole

Publication type:

Article

Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands.

Published in:

Clinical Genetics, 2000, v. 57, n. 2, p. 116, doi. 10.1034/j.1399-0004.2000.570205.x

By:

Lombardi, M Paola;
Redeker, Egbert Jw;
Defesche, Joep C;
Kamerling, Sylvia Wa;
Trip, Mieke D;
Mannens, Marcel Mam;
Havekes, Louis M;
Kastelein, John Jp

Publication type:

Article

Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.

Published in:

Clinical Genetics, 2000, v. 57, n. 2, p. 125, doi. 10.1034/j.1399-0004.2000.570206.x

By:

Allan Larsen, Lars;
Hastrup Svendsen, Ida;
Møller Jensen, Annette;
Kanters, Jørgen K;
Skytt Andersen, Paal;
Møller, Mogens;
Asger Sørensen, Sven;
Sandøe, Erik;
Ramsøe Jacobsen, Joes;
Vuust, Jens;
Christiansen, Michael

Publication type:

Article

Identification and characterization of -3c–g acceptor splice site mutation in human α-l-iduronidase associated with mucopolysaccharidosis type IH/S.

Published in:

Clinical Genetics, 2000, v. 57, n. 2, p. 131, doi. 10.1034/j.1399-0004.2000.570207.x

By:

Teng, Yn;
Wang, Tr;
Hwu, Wl;
Lin, Sp;
Lee-Chen, Gj

Publication type:

Article

Genotype–phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.

Published in:

Clinical Genetics, 2000, v. 57, n. 2, p. 137, doi. 10.1034/j.1399-0004.2000.570208.x

By:

von Gernet, S;
Golla, A;
Ehrenfels, Y;
Schuffenhauer, S;
Fairley, Jd

Publication type:

Article

Ambras syndrome or Hypertrichosis Universalis, does it really matter?

Published in:

Clinical Genetics, 2000, v. 57, n. 2, p. 158, doi. 10.1034/j.1399-0004.2000.570214.x

By:

Cianfarani, S

Publication type:

Article