Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Breaking away from home.

× No keyword cloud information.

11 in total

1. Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.

Authors: M E Hodes; K Woodward; N B Spinner; B S Emanuel; A Enrico-Simon; J Kamholz; D Stambolian; E H Zackai; V M Pratt; I T Thomas; K Crandall; S R Dlouhy; S Malcolm
Journal: Am J Hum Genet Date: 2000-05-25 Impact factor: 11.025

Review 2. Repeats in genomic DNA: mining and meaning.

Authors: J Jurka
Journal: Curr Opin Struct Biol Date: 1998-06 Impact factor: 6.809

Review 3. Charcot-Marie-Tooth disease: lessons in genetic mechanisms.

Authors: J R Lupski
Journal: Mol Med Date: 1998-01 Impact factor: 6.354

4. Duplication of proteolipid protein gene: a possible major cause of Pelizaeus-Merzbacher disease.

Authors: P J Wang; W L Hwu; W T Lee; T R Wang; Y Z Shen
Journal: Pediatr Neurol Date: 1997-09 Impact factor: 3.372

5. Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients.

Authors: L T Reiter; P J Hastings; E Nelis; P De Jonghe; C Van Broeckhoven; J R Lupski
Journal: Am J Hum Genet Date: 1998-05 Impact factor: 11.025

6. Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease.

Authors: C Mimault; G Giraud; V Courtois; F Cailloux; J Y Boire; B Dastugue; O Boespflug-Tanguy
Journal: Am J Hum Genet Date: 1999-08 Impact factor: 11.025

7. Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations.

Authors: K Inoue; H Osaka; K Imaizumi; A Nezu; J Takanashi; J Arii; K Murayama; J Ono; Y Kikawa; T Mito; L G Shaffer; J R Lupski
Journal: Ann Neurol Date: 1999-05 Impact factor: 10.422

8. Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.

Authors: K Woodward; E Kendall; D Vetrie; S Malcolm
Journal: Am J Hum Genet Date: 1998-07 Impact factor: 11.025

9. Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease.

Authors: E A Sistermans; R F de Coo; I J De Wijs; B A Van Oost
Journal: Neurology Date: 1998-06 Impact factor: 9.910

Review 10. Position effect in human genetic disease.

Authors: D J Kleinjan; V van Heyningen
Journal: Hum Mol Genet Date: 1998 Impact factor: 6.150