✦ LIBER ✦

Clinical and genetic study of familial essential tremor in an isolate of Northern Tajikistan

✍ Scribed by Sergei N. Illarioshkin; Irina A. Ivanova-Smolenskaya; Rahmatullo A. Rahmonov; Elena D. Markova; Giovanni Stevanin; Alexis Brice

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 475 KB
Volume: 15
Category: Article
ISSN: 0885-3185
DOI: 10.1002/1531-8257(200009)15:5<1020::aid-mds1044>3.0.co;2-g

No coin nor oath required. For personal study only.

✦ Synopsis

COMT, catechol-O-methyltransferase; CI, confidence interval. H and L represent high (Val-108/158) and low (Met-108/158) activity allele of the COMT gene, respectively. * Significant odds ratio which could be detected with 80% power and 95% confidence was calculated from sample numbers and control L/L or H/H frequency in each study.

📜 SIMILAR VOLUMES

Risk of tremor and impairment from tremo

Risk of tremor and impairment from tremor in relatives of patients with essential tremor: A community-based family study

✍ Elan D. Louis; Blair Ford; Steven Frucht; Livia F. Barnes; Ming X-Tang; Ruth Ott 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 170 KB 👁 2 views

Familial aggregation of astrocytoma in n

Familial aggregation of astrocytoma in northern Sweden: An epidemiological cohort study

✍ Beatrice Malmer; Henrik Grönberg; A. Tommy Bergenheim; Per Lenner; Roger Henriks 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 French ⚖ 58 KB 👁 2 views

This population-based cohort study investigated the occurrence of familial astrocytoma among first-degree relatives of patients with astrocytoma diagnosed between 1985 and 1993 in the northern region of Sweden. The 432 cases received a questionnaire. They were asked to provide names and cancer diagn

Clinical and genetic study of Friedreich

Clinical and genetic study of Friedreich ataxia in an Australian population

✍ Delatycki, Martin B.; Paris, Damien B.B.P.; Gardner, R.J. McKinlay; Nicholson, G 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB 👁 2 views

Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encodes a 210-amino acid protein called frataxin. An expansion of a GAA trinucleotide repeat in intron 1 of the gene is present in more than 95% of mutant alleles. Of the 83 people we studied who have muta

Clinical impact of molecular genetic dia

Clinical impact of molecular genetic diagnosis, genetic counseling, and management of hereditary cancer : Part I: Studies of cancer in families

✍ Henry T. Lynch; Patrice Watson; Trudy G. Shaw; Jane F. Lynch; Anne E. Harty; Bar 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 164 KB 👁 2 views

Hereditary cancer represents approximately 5-10% of the total cancer burden and may account for 60,000 to 120,000 new cancer occurrences this year in the United States. New developments in molecular genetics and the cloning of cancer-prone genes have intensely fueled interest in dealing with heredit

Bardet-Biedl syndrome type 3 in an Irani

Bardet-Biedl syndrome type 3 in an Iranian family: Clinical study and confirmation of disease localization

✍ Ghadami, Mohsen ;Tomita, Hiro-Aki ;Najafi, Mohammad-Taghi ;Damavandi, Elia ;Fara 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 176 KB 👁 1 views

Genetic approaches to polydipsia in schi

Genetic approaches to polydipsia in schizophrenia: A preliminary report of a family study and an association study of an angiotensin-converting enzyme gene polymorphism

✍ Shinkai, Takahiro ;Ohmori, Osamu ;Hori, Hiroko ;Nakamura, Jun 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 69 KB 👁 2 views

## Abstract The pathophysiology of polydipsia in patients with schizophrenia is inadequately understood. This study aims to investigate the genetic influence on polydipsia in schizophrenia, and is comprised of a family study and an association study. First, we screened in‐patients in 14 psychiatric