Works matching IS 00099163 AND DT 1998 AND VI 54 AND IP 4

Results: 23

X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency.

Published in:

Clinical Genetics, 1998, v. 54, n. 4, p. 349, doi. 10.1034/j.1399-0004.1998.5440415.x

By:

Yorifuji, Tohru;
Muroi, Junko;
Uematsu, Ayumi;
Tanaka, Koichi;
Kiwaki, Koji;
Endo, Fumio;
Matsuda, Ichiro;
Nagasaka, Hironori;
Furusho, Kenshi

Publication type:

Article

t(1;18)(q32.1;q22.1) associated with genitourinary malformations.

Published in:

Clinical Genetics, 1998, v. 54, n. 4, p. 330, doi. 10.1034/j.1399-0004.1998.5440411.x

By:

Frizell, Edward R;
Sutphen, Rebecca;
Jr, Frank B Diamond;
Sherwood, Margaret;
Overhauser, Joan

Publication type:

Article

Presence of the AZF region in a female with an idic(Y)(q11).

Published in:

Clinical Genetics, 1998, v. 54, n. 4, p. 341, doi. 10.1034/j.1399-0004.1998.5440413.x

By:

Jenderny, J.;
Schmidt, W.;
Held, KR

Publication type:

Article

Identification and characterization of a de novo partial trisomy 10p by comparative genomic hybridization (CGH).

Published in:

Clinical Genetics, 1998, v. 54, n. 4, p. 334, doi. 10.1034/j.1399-0004.1998.5440412.x

By:

Benzacken, B.;
Lapierre, JM;
Siffroi, JP;
Chalvon, A.;
Tachdjian, G.

Publication type:

Article

Autosomal dominant carpal tunnel syndrome.

Published in:

Clinical Genetics, 1998, v. 54, n. 4, p. 345, doi. 10.1034/j.1399-0004.1998.5440414.x

By:

Stoll, C.;
Maitrot, D.

Publication type:

Article

An unusual fragile X sibship: female compound heterozygote and male with a partially methylated full mutation.

Published in:

Clinical Genetics, 1998, v. 54, n. 4, p. 309, doi. 10.1034/j.1399-0004.1998.5440408.x

By:

Russo, S.;
Briscioli, V.;
Cogliati, F.;
Macchi, M.;
Lalatta, F.;
Larizza, L.

Publication type:

Article

Variants of B cell lymphoma 6 ( BCL6) and marked atopy.

Published in:

Clinical Genetics, 1998, v. 54, n. 4, p. 362, doi. 10.1111/j.1399-0004.1998.tb03743.x

By:

Adra, Chaker N;
Gao, PS;
Mao, XQ;
Baron, Beverly W;
Pauker, S.;
Miki, T.;
Shirakawa, T.;
Hopkin, JM

Publication type:

Article

Erratum.

Published in:: Clinical Genetics, 1998, v. 54, n. 4, p. 373, doi. 10.1034/j.1399-0004.1998.5440423.x
Publication type:: Article

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.

Published in:

Clinical Genetics, 1998, v. 54, n. 4, p. 315, doi. 10.1034/j.1399-0004.1998.5440409.x

By:

Crecchio, Giuseppe;
Simonelli, Francesca;
Nunziata, Giuseppe;
Mazzeo, Salvatore;
Greco, Giovanni Maria;
Rinaldi, Ernesto;
Ventruto, Valerio;
Ciccodicola, Alfredo;
Miano, Maria Giuseppina;
Testa, Francesco;
Curci, Anna;
D'Urso, Michele;
Rinaldi, Maria Michela;
Cavaliere, Maria Luigia;
Castelluccio, Pia

Publication type:

Article

Fragile X syndrome, mental retardation and macroorchidism.

Published in:

Clinical Genetics, 1998, v. 54, n. 4, p. 366, doi. 10.1111/j.1399-0004.1998.tb03745.x

By:

Vatta, Serena;
Cigui, Ileana;
Demori, Eliana;
Morgutti, Marcello;
Pecile, Vanna;
Benussi, Daniela Gambel;
Serra, Cristina;
Amoroso, Antonio

Publication type:

Article

Associations of angiotensinogen gene mutations with hypertension and myocardial infarction in a gulf population.

Published in:

Clinical Genetics, 1998, v. 54, n. 4, p. 285, doi. 10.1034/j.1399-0004.1998.5440405.x

By:

Frossard, Philippe M;
Hill, Susan H;
Elshahat, Yassin I;
Obineche, Eniyoma N;
Bokhari, Awais M;
Lestringant, Gilles G;
John, Anne;
Abdulle, Abdishakur M

Publication type:

Article

Mexican geneticists' opinions on disclosure issues.

Published in:

Clinical Genetics, 1998, v. 54, n. 4, p. 321, doi. 10.1034/j.1399-0004.1998.5440410.x

By:

Lisker, Rubén;
Carnevale, Alessandra;
Villa, Jose Antonio;
Armendares, Salvador;
Wertz, Dorothy C

Publication type:

Article

Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q.

Published in:

Clinical Genetics, 1998, v. 54, n. 4, p. 303, doi. 10.1034/j.1399-0004.1998.5440407.x

By:

Fridman, Cintia;
Varela, Monica C;
Nicholls, Robert D;
Koiffmann, Célia P

Publication type:

Article

Molecular analysis of two pre-mutations in myotonic dystrophy.

Published in:

Clinical Genetics, 1998, v. 54, n. 4, p. 354, doi. 10.1034/j.1399-0004.1998.5440416.x

By:

Yamagata, Hidehisa;
Kinoshita, Masanobu;
Komori, Tetsuo;
Kondo, Ikuko;
Miki, Tetsuro

Publication type:

Article

Fragile X and Rett syndromes in Puerto Rico.

Published in:

Clinical Genetics, 1998, v. 54, n. 4, p. 365, doi. 10.1034/j.1399-0004.1998.5440419.x

By:

Toro-Sola, MA

Publication type:

Article

Failure to identify the ryanodine receptor G1021A mutation in a large North American population with malignant hyperthermia.

Published in:

Clinical Genetics, 1998, v. 54, n. 4, p. 358, doi. 10.1111/j.1399-0004.1998.tb03742.x

By:

Stewart, Sherri L;
Rosenberg, Henry;
Fletcher, Jeffrey E

Publication type:

Article

HotSpots.

Published in:

Clinical Genetics, 1998, v. 54, n. 4, p. 266, doi. 10.1034/j.1399-0004.1998.5440402.x

By:

Wellington, Cheryl

Publication type:

Article

Genetics of Parkinson's disease.

Published in:

Clinical Genetics, 1998, v. 54, n. 4, p. 259, doi. 10.1034/j.1399-0004.1998.5440401.x

By:

Gasser, Thomas

Publication type:

Article

Two sisters with different chromosomal microdeletions: Rubinstein - Taybi syndrome and 22q deletion syndrome.

Published in:

Clinical Genetics, 1998, v. 54, n. 4, p. 371, doi. 10.1034/j.1399-0004.1998.5440422.x

By:

Can, Billur;
Qu, Yong;
Jackson, Laird G.;
Floyd, Mary;
Say, Burhan

Publication type:

Article

Developmental eye disease - a genome era paradigm.

Published in:

Clinical Genetics, 1998, v. 54, n. 4, p. 272, doi. 10.1111/j.1399-0004.1998.tb03728.x

By:

Heyningen, Veronica

Publication type:

Article

Genetic landmarks through philately - The Habsburg jaw.

Published in:

Clinical Genetics, 1998, v. 54, n. 4, p. 283, doi. 10.1111/j.1399-0004.1998.tb03729.x

By:

Chudley, Albert E

Publication type:

Article

I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cancer.

Published in:

Clinical Genetics, 1998, v. 54, n. 4, p. 368, doi. 10.1034/j.1399-0004.1998.5440421.x

By:

Yuan, Zhi Qiang;
Kasprzak, Lidia;
Gordon, Philip H;
Pinsky, Leonard;
Foulkes, William D

Publication type:

Article

Pallister-Killian syndrome [i(12p)]: first pre-natal diagnosis using cordocentesis in the second trimester confirmed by in situ hybridization.

Published in:

Clinical Genetics, 1998, v. 54, n. 4, p. 294, doi. 10.1111/j.1399-0004.1998.tb03731.x

By:

Chiesa, J.;
Hoffet, M.;
Rousseau, O.;
Bourgeois, JM;
Sarda, P.;
Mares, P.;
Bureau, JP

Publication type:

Article