Works matching IS 00099163 AND DT 1996 AND VI 50 AND IP 4

Results: 27

Partial monosomy 10q and partial trisomy 9q with anal atresia due to maternal translocation: t(9;10)(q32;q26).

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 220, doi. 10.1111/j.1399-0004.1996.tb02630.x

By:

Tsukuda, Toshinori;
Nagata, Ikuo;
Sawada, Hiroshi;
Murakami, Jun;
Hanaki, Keiichi;
Urashima, Hirofumi;
Kaneda, Tomoharu;
Shimizu, Norio;
Kaibara, Nobuaki;
Kodama, Nagao;
Ohzeki, Takehiko;
Shiraki, Kazuo

Publication type:

Article

Reduction of CAG expansions in cerebellar cortex and spinal cord of DRPLA.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 199, doi. 10.1111/j.1399-0004.1996.tb02625.x

By:

Aoki, M.;
Abe, K.;
Tobita, M.;
Kameya, T.;
Watanabe, M.;
Itoyama, Y.

Publication type:

Article

DNA polymorphisms in linkage disequilibrium at the 3' end of the human APO AII gene: relationships with lipids, apolipoproteins and coronary heart disease.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 191, doi. 10.1111/j.1399-0004.1996.tb02624.x

By:

Dupuy-Gorce, A. M.;
Desmarais, E.;
Vigneron, S.;
Buresi, C.;
Nicaud, V.;
Evans, A.;
Luc, G.;
Arveiler, D.;
Marqués-Vidal, P.;
Cambien, F.;
Tiret, L.;
Paulet, A. Crastes;
Roizés, G.

Publication type:

Article

Three familial cases presenting with an immobile spine. Rigid spine or Emery-Dreifuss syndrome?

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 229, doi. 10.1111/j.1399-0004.1996.tb02632.x

By:

Spranger, M.;
Spranger, S.;
Ziegan, J.;
Lössner, J.;
Meinck, H.-M.

Publication type:

Article

Further evidence for a syndrome of 'apple peel' intestinal atresia, ocular anomalies and microcephaly.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 260, doi. 10.1111/j.1399-0004.1996.tb02640.x

By:

Slee, Jennie;
Goldblatt, Jack

Publication type:

Article

Down syndrome associated with a retroperitoneal teratoma and Morgagni hernia.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 232, doi. 10.1111/j.1399-0004.1996.tb02633.x

By:

Quah, B. S.;
Menon, B. S.

Publication type:

Article

Clinical features in the Wiedemann-Beckwith syndrome.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 272, doi. 10.1111/j.1399-0004.1996.tb02644.x

By:

Martinez, Roberto Martinezy

Publication type:

Article

Rapid detection of a mutation hot-spot in the human androgen receptor.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 202, doi. 10.1111/j.1399-0004.1996.tb02626.x

By:

Malmgren, Helena;
Gustavsson, Jan;
Tuvemo, Torsten;
Dahl, Niklas

Publication type:

Article

Association of genetic variation at the β-fibrinogen gene locus and plasma fibrinogen evels; interaction between allele frequency of the G/A.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 184, doi. 10.1111/j.1399-0004.1996.tb02623.x

By:

Thomas, A. E.;
Green, F. R.;
Humphries, S. E.

Publication type:

Article

Siblings with congenital renal tubular acidosis and nerve deafness.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 235, doi. 10.1111/j.1399-0004.1996.tb02634.x

By:

Stoll, C.;
Gentine, A.;
Geisert, J.

Publication type:

Article

Life-threatening cardiac involvement throughout life in a case of Costello syndrome.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 244, doi. 10.1111/j.1399-0004.1996.tb02636.x

By:

Fukao, Toshiyuki;
Sakai, Shinji;
Shimozawa, Nobuyuki;
Kuwahara, Takashi;
Kano, Masatsugu;
Goto, Emiko;
Nakashima, Yoshihiro;
Katagiri-Kawade, Mayumi;
Ichihashi, Hiroshi;
Masuno, Mitsuo;
Orii, Tadao;
Kondo, Naomi

Publication type:

Article

Predictive and preimplantation genetic testing for Huntington's disease and other late onset dominant disorders: not in conflict but complementary.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 275, doi. 10.1111/j.1399-0004.1996.tb02645.x

By:

Evers-Kiebooms, G.;
Fryns, J.P.;
Demyttenaere, K.;
Decruyenaere, M.;
Boogaerts, A.;
Cloostermans, T.;
Cassiman, J. J.;
Dom, R.;
Berghe, H.

Publication type:

Article

Genetic analysis of the glucose-6-phosphatase mutation of type la glycogen storage disease in a Chinese family.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 206, doi. 10.1111/j.1399-0004.1996.tb02627.x

By:

Lee, Wen-Jane;
Lee, Hsien-Ming;
Chi, Ching-Shiang;
Shu, San-Ging;
Lin, Lih-Yaun;
Lin, Wen-Han

Publication type:

Article

The Floating-Harbor syndrome: two affected siblings in a family.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 217, doi. 10.1111/j.1399-0004.1996.tb02629.x

By:

Fryns, J. P.;
Kleczkowska, A.;
Timmermans, J.;
Berghe, H.

Publication type:

Article

Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 176, doi. 10.1111/j.1399-0004.1996.tb02622.x

By:

Häne, B.;
Schroer, R. J.;
Arena, J. F.;
Lubs, H. A.;
Schwartz, C. E.;
Stevenson, R. E.

Publication type:

Article

DNA testing in familial hypertrophic cardiomyopathy: clinical and laboratory implications.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 169, doi. 10.1111/j.1399-0004.1996.tb02621.x

By:

Smart, R.V.;
Yu, B.;
Le, H.;
French, J. A.;
Richmond, D. R.;
Jeremy, R. W.;
Semsarian, C.;
Cheung, L.;
Ross, D. A.;
Trent, R. J.

Publication type:

Article

Distinct facial appearance with nasal hypoplasia, constipation, severe mental retardation and hypotonia in two unrelated young males.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 212, doi. 10.1111/j.1399-0004.1996.tb02628.x

By:

Fryns, Jean-Pierre;
Troch, Chantal De;
Mol, Christine Van;
Vandenbossche, Luc

Publication type:

Article

Familial translocation (X;3)(p22.3;p23): chromosomal in situ suppression (CISS) hybridization and inactivation pattern study.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 270, doi. 10.1111/j.1399-0004.1996.tb02643.x

By:

Garcia-Heras, Jaime

Publication type:

Article

Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 263, doi. 10.1111/j.1399-0004.1996.tb02641.x

By:

Fukao, Toshiyuki;
Kodama, Akihiko;
Aoyanagi, Noriyuki;
Tsukino, Ryu-ichi;
Uemura, Shigeru;
Song, Xiang-Qian;
Watanebe, Hiroh;
Kuhara, Tomiko;
Matsumoto, I.;
Orii, Tadao;
Kondo, Naomi

Publication type:

Article

Keipert syndrome in two brothers from Turkey.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 223, doi. 10.1111/j.1399-0004.1996.tb02631.x

By:

Balci, Sevim;
Dagli, Safak

Publication type:

Article

FISH characterization of the Xq21 breakpoint in a translocation carrier with premature ovarian failure.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 267, doi. 10.1111/j.1399-0004.1996.tb02642.x

By:

Riva, P.;
Magnani, I.;
Conti, A. M. Fuhrmann;
Gelli, D.;
Sala, C.;
Toniolo, D.;
Larizza, L.

Publication type:

Article

Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 278, doi. 10.1111/j.1399-0004.1996.tb02647.x

By:

Rivera-Vega, M. Refugio;
Juarez, N. Leyva;
Cuevas-Covarrubias, Sergio A.;
Kofman-Alfaro, Susana H.

Publication type:

Article

COFS syndrome with familial 1;16 translocation.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 240, doi. 10.1111/j.1399-0004.1996.tb02635.x

By:

Temtamy, S. A.;
Meguid, N. A.;
Mahmoud, A.;
Afifi, H. H.;
Gerzawy, A.;
Zaki, M. S.

Publication type:

Article

Nosology of fetal hypokinesia sequence based on CNS abnormalities: is there an Aase-Smith syndrome?

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 251, doi. 10.1111/j.1399-0004.1996.tb02638.x

By:

David, Albert;
Nombalais, Marie-Françoise;
Rival, Jean-Marie;
Verloes, Alain

Publication type:

Article

Antley-Bixler syndrome.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 277, doi. 10.1111/j.1399-0004.1996.tb02646.x

By:

Mattina, T.;
Pierluigi, M.;
Perfumo, C.;
Mazzone, D.;
Scardilli, S.;
Mollica, F.

Publication type:

Article

Desbuquois syndrome in an Arab Bedouin family.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 255, doi. 10.1111/j.1399-0004.1996.tb02639.x

By:

Al-Gazeli, L I.;
Aziz, S. A. A.;
Bakalinova, D.

Publication type:

Article

A case report of 46, XX, del (21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome.

Published in:

Clinical Genetics, 1996, v. 50, n. 4, p. 248, doi. 10.1111/j.1399-0004.1996.tb02637.x

By:

Celep, Figen;
Karagüzel, Ahmet;
Aynaci, F. Müjgan;
Erduran, Erol

Publication type:

Article