Volume 54; Issue 3

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Clinical Genetics
Volume 54; Issue 3

Clinical Genetics

Volume 54; Issue 3

1

New insights into the molecular and genetic mechanisms underlying idiopathic epilepsies

Ortrud K. Steinlein

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 657 KB

english, 1998

2

Natural born killer: tau protein and its role in dementia

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.12 MB

english, 1998

3

Ethical considerations for enzyme replacement therapy in neuronopathic Gaucher disease

Deborah Elstein, Ayala Abrahamov, Ari Zimran

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 576 KB

english, 1998

4

Analysis of the transactivation domain of the androgen receptor in patients with male infertilitv

Q. Wang, FJ Ghadessy, EL Yong

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 812 KB

english, 1998

5

Severe classical congenital muscular dystrophy and merosin expression

Jiri Vajsar, David Chitayat, Laurence E. Becker, Michael Ho, Bruria Ben-Zeev, Venita Jay

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.05 MB

english, 1998

6

Identification of two novel mutations in the OCRLI gene in Japanese families with Lowe syndrome

Takeo Kubota, Akihiro Sakurai, Kazuo Arakawa, Mitsunobu Shirnazu, Keiko Wakui, Kenichi Furihata, Yoshimitsu Fukushirna

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 438 KB

english, 1998

7

Molecular basis of cystic fibrosis in the Republic of Macedonia

L. Petreska, S. Koceva, D. Plaseska, M. Chernick, A. Gordova-Muratovska, S. Fustic, R. Nestorov, GD Efremov

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 641 KB

english, 1998

8

Prevalence of homozygosity for the deleted alleles of glutathione S-transferase mu (GSTMl) and theta (GSTTl) among distinct ethnic groutx from Brazil: relevance to enviromental carcinogenesis?

Valder R. Anuda, Carlos E. Grignolli, Marilda S. Gonqalves, Manoel C. Soares, Raimundo Menezes, Sara TO Saad, Fernando F. Costa

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 534 KB

english, 1998

9

A family with three germline mutations in BRCAl and BRCA2

Alexander Liede, Kelly Metcalfe, Kenneth Offit, Karen Brown, Shari Miller, Steven A. Narod, Roxana Moslehi

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 354 KB

english, 1998

10

A genetic diagnostic survey in a population of 202 mentally retarded institutionalized patients in the south of Brazil

Têmis Maria Félix, Júlio César Loguercio Leite, Sharbel Weidner Maluf, Janice Carneiro Coelho

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 390 KB

english, 1998

11

Severe mental retardation - distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a lOq25→qter deletion

T. Lukusa, K. Devriendt, M. Holvoet, JP Fryns

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 2.96 MB

english, 1998

12

Three novel PROC gene lesions causing protein C deficiency

PJ Hallam, P. Mannucci, A. Tripodi, D. Bevan, B. Lawsen, L. Tengborn, A. Wacey, DN Coopel

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 242 KB

english, 1998

13

Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipoluscinosis

Nan Zhong, , E. Wisniewski, Jaana Hartikainen, Weina Ju, Dorota N. Moroziewicz, Lucille McLendon, Susan Sklower Brooks, W Ted Brown

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 450 KB

english, 1998

14

Dinucleotide repeat polymorphism within the tumor suppressor gene PTCH at 9q22

Jari Louhelainen, Erica Lindströrn, Kari Hemrninki, Rune Toftgård

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 172 KB

english, 1998

15

Methods to detect the RYR1 G742A and A1565C mutations associated with malignant hyperthermia using a PCR-modified restriction sites technique

Yoshitatsu Sei, Kathy Gallagher, Mike Flora, Geoffrey SF Ling, Sheila Muldoon

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 283 KB

english, 1998

16

Lack of association between ACE gene polymorphisms and 4 and asthma in British and Japanese populations

Yoshitatsu Sei, Kathy Gallagher, Mike Flora, Geoffrey SF Ling, Sheila Muldoon, P-S Gao, X-Q Mao, M. Kawai, T. Enomoto, S. Sasuki, SR Shaldon, Y. Dake, H. Kitano, P. Coull, A. Hagihara, T. Shirakawa, J

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 200 KB

english, 1998

17

A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 143 KB

english, 1998

18

Distribution of CAG repeats in normal. and Huntington's disease patients in Israel

E. Gazit, L. Lubomirov, O. Munakov, A. Topper, M. Frydman, K. Fried, Z. Borochovitz, N. Dangoor, A. Bogolubou, HJA Carp

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 152 KB

english, 1998

19

Generalised muscle hypertonia with mask-like face (Freeman-Sheldon syndrome) in a Tanzanian girl

Karim P. Munji, Roger L. Mbise

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 300 KB

english, 1998

20

The Met54Leu polymorphism of paraoxonase (PON) enzyme gene is not a genetic risk factor for non-insulin-dependent diabetes mellitus in Finns

Riikka Malin, Xiao-Hong Huang, Ole Wirta, Vappu Rantalaiho, Amos Pasternack, Hannu Jokela, Timo Koivula, Terho Lehtimäki

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 114 KB

english, 1998

21

Acheiropodia: new cases from Brazil

Elizabeth Lemos Silveira, Ademar Freire-Maia

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 323 KB

english, 1998

22

Erratum

Journal:

Clinical Genetics

Year:

1998

File:

PDF, 22 KB

1998

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