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Literature DB >> 8808588

Williams syndrome starts making sense.

J Ashkenas.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 1996 PMID： 8808588 PMCID： PMC1914814

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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36 in total

1. 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover.

Authors: Z Urbán; C Helms; G Fekete; K Csiszár; D Bonnet; A Munnich; H Donis-Keller; C D Boyd
Journal: Am J Hum Genet Date: 1996-10 Impact factor: 11.025

2. A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.

Authors: T M Olson; V V Michels; Z Urban; K Csiszar; A M Christiano; D J Driscoll; R H Feldt; C D Boyd; S N Thibodeau
Journal: Hum Mol Genet Date: 1995-09 Impact factor: 6.150

3. Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.

Authors: L A Pérez Jurado; R Peoples; P Kaplan; B C Hamel; U Francke
Journal: Am J Hum Genet Date: 1996-10 Impact factor: 11.025

4. LIM-kinase deleted in Williams syndrome.

Authors: M Tassabehji; K Metcalfe; W D Fergusson; M J Carette; J K Dore; D Donnai; A P Read; C Pröschel; N J Gutowski; X Mao; D Sheer
Journal: Nat Genet Date: 1996-07 Impact factor: 38.330

5. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.

Authors: M C Lowery; C A Morris; A Ewart; L J Brothman; X L Zhu; C O Leonard; J C Carey; M Keating; A R Brothman
Journal: Am J Hum Genet Date: 1995-07 Impact factor: 11.025

6. Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome.

Authors: A Mari; F Amati; R Mingarelli; A Giannotti; G Sebastio; V Colloridi; G Novelli; B Dallapiccola
Journal: Hum Genet Date: 1995-10 Impact factor: 4.132

7. The Williams syndrome: objective definition and diagnosis.

Authors: M Preus
Journal: Clin Genet Date: 1984-05 Impact factor: 4.438

Review 8. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis.

Authors: D H Ledbetter; E Engel
Journal: Hum Mol Genet Date: 1995 Impact factor: 6.150

9. LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition.

Authors: J M Frangiskakis; A K Ewart; C A Morris; C B Mervis; J Bertrand; B F Robinson; B P Klein; G J Ensing; L A Everett; E D Green; C Pröschel; N J Gutowski; M Noble; D L Atkinson; S J Odelberg; M T Keating
Journal: Cell Date: 1996-07-12 Impact factor: 41.582

10. Identification and characterization of a novel family of serine/threonine kinases containing two N-terminal LIM motifs.

Authors: I Okano; J Hiraoka; H Otera; K Nunoue; K Ohashi; S Iwashita; M Hirai; K Mizuno
Journal: J Biol Chem Date: 1995-12-29 Impact factor: 5.157

5 in total

Williams syndrome starts making sense.

1. 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover.

2. A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.

3. Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.

4. LIM-kinase deleted in Williams syndrome.

5. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.

6. Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome.

7. The Williams syndrome: objective definition and diagnosis.

Review 8. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis.

9. LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition.

10. Identification and characterization of a novel family of serine/threonine kinases containing two N-terminal LIM motifs.

Review 1. Elastin, arterial mechanics, and stenosis.

2. Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.

Review 3. Elastin, arterial mechanics, and cardiovascular disease.

4. Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries.

5. Perceptual learning in Williams syndrome: looking beyond averages.