Volume 54; Issue 1

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Clinical Genetics
Volume 54; Issue 1

Clinical Genetics

Volume 54; Issue 1

1

Hemochromatosis: genetics helps to define a multifactorial disease

Wylie Burke, Nancy Press, Sharon M McDonnell

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 876 KB

english, 1998

2

Developmental Biology: Frontiers for Clinical Genetics

Roderick R. McInnes M.D.

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 43 KB

english, 1998

3

Recent progress in the molecular genetics of congenital heart defects

John W. Belmont

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.91 MB

english, 1998

4

New insights into the genetics of lissencephaly

Cheryl Wellington

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 330 KB

english, 1998

5

An unexpected cause for combined deficiency of coagulation factors V and VIII

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 258 KB

english, 1998

6

Spinal muscular atrophy: a disease of altered RNA metabolism?

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 396 KB

english, 1998

7

Linkage analysis in a large Spanish family with X-linked retinitis pigmentosa: phenotype—genotype correlation

C. Capeans, M. J. Blanco, M. V. Lareu, F. Barros, A. Piñeiro, M. Sanchez-Salorio, A. Carracedo

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 562 KB

english, 1998

8

Association of long variants of the dopamine D4 receptor exon 3 repeat polymorphism with Parkinson's disease

Michael H. Ricketts, Robert M. Hamer, Paul Manowitz, Fei Feng, Jacob I. Sage, Rocco Di Paola, Matthew A. Menza

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 464 KB

english, 1998

9

Low frequency of RET mutations in Hirschsprung disease in Sweden

Pär-Johan Svensson, Marie-Louise Molander, Charis Eng, Maria Anvret, Agneta Nordenskjöld

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 720 KB

english, 1998

10

Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation

R. Weissörtel, T. M. Strom, H. G. Dörr, A. Rauch, T. Meitinger

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.53 MB

english, 1998

11

Female external genitalia, absent uterus, and probable agonadism in a 46,XY infant with bilateral upper amelia

Yo-ichiro Ohro, Yoshimi Suzuki, Yoshiyuki Tsutsumi, Tsutomu Ogata

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 696 KB

english, 1998

12

Phenotypic and genotypic variability in monozygotic triplets with Turner syndrome

J. Lespinasse, C. Gicquel, M. Robert, Y. Le Bouc

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 525 KB

english, 1998

13

A case of Prader – Willi syndrome arising as a result of familial unbalanced translocation t(11;15)(q25;q13)

Malgorzata Krajewska Walasek, Anna Gutkowska, Beata Bielińska, Bozenna Goryluk-Kozakiewicz, Ewa Popowska

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 996 KB

english, 1998

14

De novo direct duplication 2 (p12 p21) with paternally inherited pericentric inversion 2p11.2 2q12.2

A. C. Magee, M. W. Humphreys, S. McKee, M. Stewart, N. C. Nevin

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.76 MB

english, 1998

15

Functional mosaic trisomy of 1q12 1q21 resulting from X-autosome insertion translocation with random inactivation

A. Vust, D. Riordan, D. Wickstrom, A. E. Chudley, A. J. Dawson

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 669 KB

english, 1998

16

Familial hypercholesterolemia: potential diagnostic value of mutation screening in a pediatric population of South Africa

Maritha J. Kotze, Armand V. Peeters, Odell Loubser, Leonora Theart, Lana du Plessis, Vanessa M. Hayes, Greetje de Jong, J. Nico P. de Villiers, Carl J. Lombard, Peter S. Hansen, Frederick J. Raal

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 409 KB

english, 1998

17

Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay

Henrik Nissen, Sophie Lestavel, Torben Stiig Hansen, Gérald Luc, Eric Bruckert, Veronique Clavey

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 371 KB

english, 1998

18

Autosomal dominant inheritance of adducted thumbs and other digital anomalies

A. Miranda, J. C. Zenteno, E. Santiago, S. Kofman-Alfaro

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 722 KB

english, 1998

19

Marden—Walker syndrome versus isolated distal arthrogryposis: Evidence that both conditions may be variable manifestations of the same mutated gene

J. P. Fryns, D. Willekens, D. van Schoubroeck, Ph. Moerman

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.35 MB

english, 1998

20

Infectious complications of propionic acidemia in Saudia Arabia

M. Al. Essa, Z. Rahbeeni, S. Jumaah, S. Joshi, E. Al. Jishi, M. S. Rashed, M. Al. Amoudi, P. T. Ozand

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 903 KB

english, 1998

21

SKALP/elafin gene polymorphisms are not associated with pustular forms of psoriasis

Astrid LA. Kuijpers, Rolph Pfundt, Patrick LJM Zeeuwen, Henri OF. Molhuizen, Edwin CM. Mariman, Peter CM. van de Kerkhof, Joost Schalkwijk

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 683 KB

english, 1998

22

Polymorphic exonic CAG microsatellites in the gene amplified in breast cancer (AIB1 gene)

Sherin K Shirazi, Mary A Bober, Gerhard A Coetzee

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 181 KB

english, 1998

23

Sac I identifies a biallelic polymorphism in the coding sequence of the gamma subunit of the epithelial sodium channel (ENaC): a candidate gene for hypertension

Rita Viaplana, Esteban Poch, Sergio Lario, Josep Oriola, Daniel González, Albert Botey, Francisca Rivera

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 254 KB

english, 1998

24

Apolipoprotein E and A-IV polymorphisms in the Estonian population

Terho Lehtimäki, Toomas Uibu, Pekka Roto, Timo Koivula, Hannu Jokela, Christian Ehnholm, Nina Peltonen, Tapio Nikkari

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 163 KB

english, 1998

25

Phenotypic spectrum of tetrasomy 12p and prenatal counseling: potential underestimation of severity

Iosif W. Lurie M.D.

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 160 KB

english, 1998

26

The use of a specific clinical history in counselling a family with the balanced translocation 46,XY,t(4;12)(p15.2;q21.3): viable offspring with partial monosomy 4p and trisomy 12q

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 156 KB

english, 1998