Literature DB >> 8808614

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

Z Urbán, C Helms, G Fekete, K Csiszár, D Bonnet, A Munnich, H Donis-Keller, C D Boyd.   

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Year:  1996        PMID： 8808614      PMCID： PMC1914803     

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


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  14 in total

1.  A second-generation linkage map of the human genome.

Authors:  J Weissenbach; G Gyapay; C Dib; A Vignal; J Morissette; P Millasseau; G Vaysseix; M Lathrop
Journal:  Nature       Date:  1992-10-29       Impact factor: 49.962

2.  A to G polymorphism in ELN gene.

Authors:  G Tromp; A Christiano; N Goldstein; Z Indik; C Boyd; J Rosenbloom; S Deak; D Prockop; H Kuivaniemi
Journal:  Nucleic Acids Res       Date:  1991-08-11       Impact factor: 16.971

3.  The 1993-94 Généthon human genetic linkage map.

Authors:  G Gyapay; J Morissette; A Vignal; C Dib; C Fizames; P Millasseau; S Marc; G Bernardi; M Lathrop; J Weissenbach
Journal:  Nat Genet       Date:  1994-06       Impact factor: 38.330

4.  A YAC contig map of the human genome.

Authors:  I M Chumakov; P Rigault; I Le Gall; C Bellanné-Chantelot; A Billault; S Guillou; P Soularue; G Guasconi; E Poullier; I Gros
Journal:  Nature       Date:  1995-09-28       Impact factor: 49.962

Review 5.  Chromosomal duplications in bacteria, fruit flies, and humans.

Authors:  J R Lupski; J R Roth; G M Weinstock
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

6.  Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7.

Authors:  K Foster; R Ferrell; L King-Underwood; S Povey; J Attwood; R Rennick; S E Humphries; A M Henney
Journal:  Ann Hum Genet       Date:  1993-05       Impact factor: 1.670

7.  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

8.  Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

Authors:  A K Ewart; C A Morris; D Atkinson; W Jin; K Sternes; P Spallone; A D Stock; M Leppert; M T Keating
Journal:  Nat Genet       Date:  1993-09       Impact factor: 38.330

Review 9.  Genetic basis of inherited peripheral neuropathies.

Authors:  U Suter; P I Patel
Journal:  Hum Mutat       Date:  1994       Impact factor: 4.878

10.  Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.

Authors:  D E Iles; F Lehmann-Horn; S W Scherer; L C Tsui; D Olde Weghuis; R F Suijkerbuijk; L Heytens; G Mikala; A Schwartz; F R Ellis
Journal:  Hum Mol Genet       Date:  1994-06       Impact factor: 6.150
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  37 in total

1.  Injury prevention.

Authors:  I Roberds; C DiGuiseppi
Journal:  Arch Dis Child       Date:  1999-09       Impact factor: 3.791

2.  Williams syndrome: an update on clinical and molecular aspects.

Authors:  K Metcalfe
Journal:  Arch Dis Child       Date:  1999-09       Impact factor: 3.791

3.  Localization of mariner DNA transposons in the human genome by PRINS.

Authors:  L T Reiter; T Liehr; B Rautenstrauss; H M Robertson; J R Lupski
Journal:  Genome Res       Date:  1999-09       Impact factor: 9.043

4.  A haplolethal locus uncovered by deletions in the mouse T complex.

Authors:  Victoria L Browning; Rebecca A Bergstrom; Sandra Daigle; John C Schimenti
Journal:  Genetics       Date:  2002-02       Impact factor: 4.562

5.  Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

Authors:  Christine J Shaw; Weimin Bi; James R Lupski
Journal:  Am J Hum Genet       Date:  2002-10-09       Impact factor: 11.025

6.  Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions.

Authors:  Lisa Neuhäusler; Anna Summerer; David N Cooper; Victor-F Mautner; Hildegard Kehrer-Sawatzki
Journal:  Hum Genet       Date:  2018-05-05       Impact factor: 4.132

7.  Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.

Authors:  Ivon Cuscó; Roser Corominas; Mònica Bayés; Raquel Flores; Núria Rivera-Brugués; Victoria Campuzano; Luis A Pérez-Jurado
Journal:  Genome Res       Date:  2008-02-21       Impact factor: 9.043

8.  Children with 7q11.23 duplication syndrome: psychological characteristics.

Authors:  Carolyn B Mervis; Bonita P Klein-Tasman; Myra J Huffman; Shelley L Velleman; C Holley Pitts; Danielle R Henderson; Janet Woodruff-Borden; Colleen A Morris; Lucy R Osborne
Journal:  Am J Med Genet A       Date:  2015-04-21       Impact factor: 2.802

9.  The mechanisms involved in formation of deletions and duplications of 15q11-q13.

Authors:  W P Robinson; F Dutly; R D Nicholls; F Bernasconi; M Peñaherrera; R C Michaelis; D Abeliovich; A A Schinzel
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

10.  Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.

Authors:  Sulagna C Saitta; Stacy E Harris; Ann P Gaeth; Deborah A Driscoll; Donna M McDonald-McGinn; Melissa K Maisenbacher; Jill M Yersak; Prabir K Chakraborty; April M Hacker; Elaine H Zackai; Terry Ashley; Beverly S Emanuel
Journal:  Hum Mol Genet       Date:  2003-12-17       Impact factor: 6.150
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