Works matching IS 00099163 AND DT 1999 AND VI 56 AND IP 2

Results: 21

A Japanese patient homozygous for the H1085R mutation in the CFTR gene presents with a severe form of cystic fibrosis.

Published in:

Clinical Genetics, 1999, v. 56, n. 2, p. 173, doi. 10.1034/j.1399-0004.1999.560217.x

By:

Yoshimura, Kunihiko;
Wakazono, Yoshihiro;
Iizuka, Sayoko;
Morokawa, Nasa;
Tada, Hiroko;
Eto, Yoshikatsu

Publication type:

Article

Genetic aspects of population policy.

Published in:

Clinical Genetics, 1999, v. 56, n. 2, p. 105, doi. 10.1034/j.1399-0004.1999.560201.x

By:

Morton, Newton E

Publication type:

Article

HotSpots - Insufficient death: autoimmune lymphoproliferative syndrome.

Published in:

Clinical Genetics, 1999, v. 56, n. 2, p. 110, doi. 10.1034/j.1399-0004.1999.560202.x

By:

Wellington, Cheryl;
Hackam, Abigail S.

Publication type:

Article

HotSpots - Cutting it close: new insights into presenilin-1 function.

Published in:

Clinical Genetics, 1999, v. 56, n. 2, p. 112, doi. 10.1034/j.1399-0004.1999.5602021.x

By:

Wellington, Cheryl;
Hackam, Abigail S.

Publication type:

Article

Genetic landmarks through philately – Kabuki theater and Kabuki syndrome.

Published in:

Clinical Genetics, 1999, v. 56, n. 2, p. 116, doi. 10.1034/j.1399-0004.1999.560203.x

By:

Mhanni, Aizeddin A;
Chudley, Albert E

Publication type:

Article

HotSpots - An unusual ataxia.

Published in:

Clinical Genetics, 1999, v. 56, n. 2, p. 113, doi. 10.1034/j.1399-0004.1999.5602022.x

By:

Wellington, Cheryl;
Hackam, Abigail S.

Publication type:

Article

Genetic counselling in multiple sclerosis: risks to sibs and children of affected individuals.

Published in:

Clinical Genetics, 1999, v. 56, n. 2, p. 118, doi. 10.1034/j.1399-0004.1999.560204.x

By:

Sadovnick, AD;
Dircks, A;
Ebers, GC

Publication type:

Article

FISH analysis with locus-specific probes in sperm from two translocation carrier men.

Published in:

Clinical Genetics, 1999, v. 56, n. 2, p. 129, doi. 10.1034/j.1399-0004.1999.560206.x

By:

Durak, Beyhan;
Hakan Özön, Yavuz;
Özdemir, Muhsin;
Artan, Sevilhan;
Basaran, Nurettin;
Basaran, Seher;
Özkinay, Cihangir

Publication type:

Article

STK11/LKB1 germline mutations are not identified in most Peutz–Jeghers syndrome patients.

Published in:

Clinical Genetics, 1999, v. 56, n. 2, p. 136, doi. 10.1034/j.1399-0004.1999.560207.x

By:

Jiang, Cao-Yang;
Esufali, Susmita;
Berk, Terri;
Gallinger, Steven;
Cohen, Zane;
Tobi, Martin;
Redston, Mark;
Bapat, Bharati

Publication type:

Article

Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis.

Published in:

Clinical Genetics, 1999, v. 56, n. 2, p. 123, doi. 10.1034/j.1399-0004.1999.560205.x

By:

Heilstedt, HA;
Shapira, SK;
Gregg, AR;
Shaffer, LG

Publication type:

Article

Possible interaction of genotypes at cystathionine β-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects.

Published in:

Clinical Genetics, 1999, v. 56, n. 2, p. 142, doi. 10.1034/j.1399-0004.1999.560208.x

By:

Speer, MC;
Nye, J;
McLone, D;
Worley, G;
Melvin, EC;
Viles, KD;
Franklin, A;
Drake, C;
Mackey, J;
George, TM

Publication type:

Article

Short rib-polydactyly syndrome: more evidence of a continuous spectrum.

Published in:

Clinical Genetics, 1999, v. 56, n. 2, p. 145, doi. 10.1034/j.1399-0004.1999.560209.x

By:

Sarafoglou, Kyriake;
Funai, Edmund F;
Fefferman, Nancy;
Zajac, Laura;
Geneiser, Nancy;
Paidas, Michael J;
Greco, Alba;
Wallerstein, Robert

Publication type:

Article

Aicardi–Goutières syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?

Published in:

Clinical Genetics, 1999, v. 56, n. 2, p. 149, doi. 10.1034/j.1399-0004.1999.560210.x

By:

Fauré, Sabine;
Bordelais, Isabelle;
Marquette, Catherine;
Rittey, Chris;
Campos-Castello, Jaime;
Goutières, Françoise;
Ponsot, Gérard;
Weissenbach, Jean;
Lebon, Pierre

Publication type:

Article

Kabuki syndrome: description of dental findings in 8 patients.

Published in:

Clinical Genetics, 1999, v. 56, n. 2, p. 154, doi. 10.1034/j.1399-0004.1999.560211.x

By:

Mhanni, AA;
Cross, HG;
Chudley, AE

Publication type:

Article

Physical activity modulates the effect of a lipoprotein lipase mutation (D9N) on plasma lipids and lipoproteins.

Published in:

Clinical Genetics, 1999, v. 56, n. 2, p. 158, doi. 10.1034/j.1399-0004.1999.560212.x

By:

Boer, Jolanda MA;
Kuivenhoven, Jan Albert;
Feskens, Edith JM;
Schouten, Evert G;
Havekes, Louis M;
Seidell, Jacob C;
Kastelein, John JP;
Kromhout, Daan

Publication type:

Article

Serum total IgE levels and CD14 on chromosome 5q31.

Published in:

Clinical Genetics, 1999, v. 56, n. 2, p. 164, doi. 10.1034/j.1399-0004.1999.560213.x

By:

Gao, P.-S.;
Mao, X.-Q.;
Baldini, M.;
Roberts, M.H.;
Adra, C.N.;
Shirakawa, T.;
Holt, P.G.;
Martinez, F.D.;
Hopkin, J.M.

Publication type:

Article

Association between CAG repeat number in the androgen receptor and male infertility in a Belgian study.

Published in:

Clinical Genetics, 1999, v. 56, n. 2, p. 166, doi. 10.1034/j.1399-0004.1999.560214.x

By:

Legius, E.;
Vanderschueren, D.;
Spiessens, C.;
D'HoogheG., T.;
Matthijs, G.

Publication type:

Article

Scalp-ear-nipple (Finlay–Marks) syndrome: a familial case with renal involvement.

Published in:

Clinical Genetics, 1999, v. 56, n. 2, p. 170, doi. 10.1034/j.1399-0004.1999.560216.x

By:

Picard, C.;
Couderc, S.;
Skojaei, T.;
Salomon, R.;
de Lonlay, P.;
Le Merrer, M.;
Munnich, A.;
Lyonnet, S.;
Amiel, J.

Publication type:

Article

High frequency of type 1 GM1 gangliosidosis in southern Brazil.

Published in:

Clinical Genetics, 1999, v. 56, n. 2, p. 168, doi. 10.1034/j.1399-0004.1999.560215.x

By:

Severini, Marcia H.A.;
Silva, C.D.;
Sopelsa, A.;
Coelho, J.C.;
Giugliani, R.

Publication type:

Article

Correspondence.

Published in:

1999

By:

De Smet, L.;
Fryns, J.P.

Publication type:

Letter

Correspondence.

Published in:: 1999
Publication type:: Letter