Volume 102; Issue 6

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Human Genetics
Volume 102; Issue 6

Human Genetics

Volume 102; Issue 6

1

Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese complement C9 deficiency

R. Kira, Kenji Ihara, Hidetoshi Takada, Kenjiro Gondo, Toshiro Hara

Journal:

Year:

1998

Language:

english

File:

PDF, 91 KB

english, 1998

2

Prenatal diagnosis of ornithine transcarbamylase deficiency by using a single nucleated erythrocyte from maternal blood

A. Watanabe, Akihiko Sekizawa, Atsushi Taguchi, Hiroshi Saito, Takumi Yanaihara, Mitsunobu Shimazu, Ichiro Matsuda

Journal:

Year:

1998

Language:

english

File:

PDF, 83 KB

english, 1998

3

Assessment of autosome and gonosome disomy in human sperm nuclei by chromosome painting

N. Rives, Sophie Mazurier, Delphine Bellet, Géraldine Joly, Bertrand Macé

Journal:

Year:

1998

Language:

english

File:

PDF, 95 KB

english, 1998

4

The familial adenomatous polyposis region exhibits many different haplotypes

Alessandro Stella, Nicoletta Resta, Angela Polizzi, Mariapina Montera, Filomena Cariola, Francesco Susca, Viviana Gismondi, Lucio Bertario, Cristiana Marchese, Romano Tenconi, Maria Grazia Tibiletti,

Journal:

Year:

1998

Language:

english

File:

PDF, 62 KB

english, 1998

5

The Cretan type of non-deletional hereditary persistence of fetal hemoglobin [Aγ–158C→T] results from two independent gene conversion events

G. P. Patrinos, Panagoula Kollia, Aphrodite Loutradi-Anagnostou, Dimitris Loukopoulos, Manoussos N. Papadakis

Journal:

Year:

1998

Language:

english

File:

PDF, 124 KB

english, 1998

6

Synchrony in telomere length of the human fetus

Kjell Youngren, Elisabeth Jeanclos, Hana Aviv, Masayuki Kimura, Jeffrey Stock, Moneer Hanna, J. Skurnick, Arlene Bardeguez, A. Aviv

Journal:

Year:

1998

Language:

english

File:

PDF, 89 KB

english, 1998

7

A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population

L. P. W. J. van den Heuvel, Bernadette Luiten, J. A. M. Smeitink, Johanneke F. de Rijk-van Andel, Keith Hyland, Gerry C. H. Steenbergen-Spanjers, R. J. T. Janssen, R. A. Wevers

Journal:

Year:

1998

Language:

english

File:

PDF, 73 KB

english, 1998

8

Microsatellite profiles reveal an unexpected genetic relationship between Asian populations

Burkhard Rolf, Basil Horst, Antonin Eigel, T. Sanguansermsri, B. Brinkmann, Jürgen Horst

Journal:

Year:

1998

Language:

english

File:

PDF, 71 KB

english, 1998

9

The mobile nature of acrocentric elements illustrated by three unusual chromosome variants

K. S. Reddy, V. Sulcova

Journal:

Year:

1998

Language:

english

File:

PDF, 443 KB

english, 1998

10

Preimplantation genetic analysis of translocations: case-specific probes for interphase cell analysis

S. Munné, Jingly Fung, Michael J. Cassel, Carmen Márquez, Heinz Ulrich G. Weier

Journal:

Year:

1998

Language:

english

File:

PDF, 275 KB

english, 1998

11

Five novel missense mutations of the Lewis gene (FUT3) in African (Xhosa) and Caucasian populations in South Africa

H. Pang, Yuhua Liu, Yoshiro Koda, Mikiko Soejima, Jingtao Jia, Terry Schlaphoff, Ernette D. du Toit, H. Kimura

Journal:

Year:

1998

Language:

english

File:

PDF, 97 KB

english, 1998

12

Exclusion of ap53germline mutation in a classic Li-Fraumeni syndrome family

Susan C. Evans, Betsy Mims, Kelly M. McMasters, Carolyn J. Foster, Mariza deAndrade, Christopher I. Amos, Louise C. Strong, Guillermina Lozano

Journal:

Year:

1998

Language:

english

File:

PDF, 98 KB

english, 1998

13

Multiple testing in fetal gender determination from maternal blood by polymerase chain reaction

Fiorenza Lagona, M. Smid, Nadia Papasergio, Augusto Ferrari, Maurizio Ferrari, Laura Cremonesi

Journal:

Year:

1998

Language:

english

File:

PDF, 60 KB

english, 1998

14

Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome

C. Espinós, J. M. Millán, F. Sánchez, M. Beneyto, C. Nájera

Journal:

Year:

1998

Language:

english

File:

PDF, 70 KB

english, 1998

15

Distribution of CCR5-delta 32 gene deletion across the Russian part of Eurasia

N. S. Yudin, V. Vinogradov Sergey, Tatyana A. Potapova, Tatyana M. Naykova, Violetta V. Sitnikova, Igor V. Kulikov, Viacheslav I. Khasnulin, Cheche Konchuk, Pavel E. Vloschinskii, Sergey V. Ivanov, Vi

Journal:

Year:

1998

Language:

english

File:

PDF, 55 KB

english, 1998

16

The human photoreceptor rim protein gene (ABCR): genomic structure and primer set information for mutation analysis

Sassan M. Azarian, Christine F. Megarity, Jian Weng, David H. Horvath, G. H. Travis

Journal:

Year:

1998

Language:

english

File:

PDF, 130 KB

english, 1998

17

Genetic engineering with PCR: R. M. Horton and R. C. Tait (Editors)

Journal:

Year:

1998

Language:

english

File:

PDF, 37 KB

english, 1998

18

Human cytogenetic cancer markers: Sandra R. Wolman and Stewart Sell (Editors)

Journal:

Year:

1998

Language:

english

File:

PDF, 38 KB

english, 1998

19

Absence of association between a mitochondrial DNA mutation at nucleotide position 3243 and schizophrenia in Japanese

M. Odawara, Tadao Arinami, Yoichi Tachi, Hideo Hamaguchi, Michio Toru, Kamejiro Yamashita

Journal:

Year:

1998

Language:

english

File:

PDF, 42 KB

english, 1998

20

Human Gene Mutations

Journal:

Year:

1998

File:

PDF, 36 KB

1998

21

Human Gene Mutations

X. Cao,K. W. Eu,C. Seow,P. Y. Cheah

Journal:

Year:

1998

File:

PDF, 35 KB

1998

22

Erratum: Hum Genet (1998) 102 : 571–575

Journal:

Year:

1998

File:

PDF, 35 KB

1998

23

Erratum: Hum Genet (1998) 102 : 464–466

Journal:

Year:

1998

File:

PDF, 36 KB

1998

24

Identification of a novel splicing mutation and 1-bp deletion in the 17α-hydroxylase gene of Japanese patients with 17α-hydroxylase deficiency

Yamaguchi, Hideki, Nakazato, M., Miyazato, Mikiya, Toshimori, Hirotaka, Oki, Syougo, Shimizu, Kenichi, Suiko, Masahito, Kangawa, Kenji, Matsukura, Shigeru

Journal:

Year:

1998

Language:

english

File:

PDF, 128 KB

english, 1998

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