Volume 54; Issue 4

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Clinical Genetics
Volume 54; Issue 4

Clinical Genetics

Volume 54; Issue 4

1

Genetics of Parkinson's disease

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 2.30 MB

english, 1998

2

HotSpots

Cheryl Wellington

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 991 KB

english, 1998

3

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

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

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 887 KB

english, 1998

4

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

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

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 2.44 MB

english, 1998

5

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

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

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 744 KB

english, 1998

6

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity

Giuseppe de Crecchio, Francesca Simonelli, Giuseppe Nunziata, Salvatore Mazzeo, Giovanni Maria Greco, Ernesto Rinaldi, Valerio Ventruto, Alfredo Ciccodicola, Maria Giuseppina Miano, Francesco Testa, A

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 772 KB

english, 1998

7

Mexican geneticists' opinions on disclosure issues

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

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 812 KB

english, 1998

8

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

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

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.08 MB

english, 1998

9

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

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

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 2.48 MB

english, 1998

10

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

J. Jenderny, W. Schmidt, KR Held

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 488 KB

english, 1998

11

Autosomal dominant carpal tunnel syndrome

C. Stoll, D. Maitrot

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 482 KB

english, 1998

12

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

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

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 482 KB

english, 1998

13

Molecular analysis of two pre-mutations in myotonic dystrophy

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

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 301 KB

english, 1998

14

Fragile X and Rett syndromes in Puerto Rico

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 90 KB

english, 1998

15

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

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

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 188 KB

english, 1998

16

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

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

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 880 KB

english, 1998

17

Erratum

Journal:

Clinical Genetics

Year:

1998

File:

PDF, 453 KB

1998

18

Developmental eye disease — a genome era paradigm

Veronica van Heyningen

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.09 MB

english, 1998

19

Genetic landmarks through philately — The Habsburg jaw

Albert E Chudley

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.04 MB

english, 1998

20

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

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

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.32 MB

english, 1998

21

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

Sherri L Stewart, Henry Rosenberg, Jeffrey E Fletcher

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 576 KB

english, 1998

22

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

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

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 192 KB

english, 1998

23

Fragile X syndrome, mental retardation and macroorchidism

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

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 173 KB

english, 1998

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