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14 in total

1. Sequence and expression in Escherichia coli of the 40-kDa subunit of activator 1 (replication factor C) of HeLa cells.

Authors: M Chen; Z Q Pan; J Hurwitz
Journal: Proc Natl Acad Sci U S A Date: 1992-04-01 Impact factor: 11.205

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. Unbalanced 13;18 translocation and Williams syndrome.

Authors: A Colley; Y Thakker; H Ward; D Donnai
Journal: J Med Genet Date: 1992-01 Impact factor: 6.318

4. 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

5. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis.

Authors: M E Curran; D L Atkinson; A K Ewart; C A Morris; M F Leppert; M T Keating
Journal: Cell Date: 1993-04-09 Impact factor: 41.582

6. The subunits of activator 1 (replication factor C) carry out multiple functions essential for proliferating-cell nuclear antigen-dependent DNA synthesis.

Authors: Z Q Pan; M Chen; J Hurwitz
Journal: Proc Natl Acad Sci U S A Date: 1993-01-01 Impact factor: 11.205

7. Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome.

Authors: E Nickerson; F Greenberg; M T Keating; C McCaskill; L G Shaffer
Journal: Am J Hum Genet Date: 1995-05 Impact factor: 11.025

8. Natural history of Williams syndrome: physical characteristics.

Authors: C A Morris; S A Demsey; C O Leonard; C Dilts; B L Blackburn
Journal: J Pediatr Date: 1988-08 Impact factor: 4.406

9. Characterization of the five replication factor C genes of Saccharomyces cerevisiae.

Authors: G Cullmann; K Fien; R Kobayashi; B Stillman
Journal: Mol Cell Biol Date: 1995-09 Impact factor: 4.272

10. Cloning, expression, and chromosomal localization of the 140-kilodalton subunit of replication factor C from mice and humans.

Authors: B Luckow; F Bunz; B Stillman; P Lichter; G Schütz
Journal: Mol Cell Biol Date: 1994-03 Impact factor: 4.272

16 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. Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome.

Authors: Udaya DeSilva; Laura Elnitski; Jacquelyn R Idol; Johannah L Doyle; Weiniu Gan; James W Thomas; Scott Schwartz; Nicole L Dietrich; Stephen M Beckstrom-Sternberg; Jennifer C McDowell; Robert W Blakesley; Gerard G Bouffard; Pamela J Thomas; Jeffrey W Touchman; Webb Miller; Eric D Green
Journal: Genome Res Date: 2002-01 Impact factor: 9.043

4. A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23.

Authors: R Peoples; Y Franke; Y K Wang; L Pérez-Jurado; T Paperna; M Cisco; U Francke
Journal: Am J Hum Genet Date: 2000-01 Impact factor: 11.025

5. 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

6. Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome.

Authors: L R Osborne; S Soder; X M Shi; B Pober; T Costa; S W Scherer; L C Tsui
Journal: Am J Hum Genet Date: 1997-08 Impact factor: 11.025

7. 2012 William Allan Award: Adventures in cytogenetics.

Authors: Uta Francke
Journal: Am J Hum Genet Date: 2013-03-07 Impact factor: 11.025

8. Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I.

Authors: X Yan; X Zhao; M Qian; N Guo; X Gong; X Zhu
Journal: Biochem J Date: 2000-02-01 Impact factor: 3.857

Review 9. Copy number variants at Williams-Beuren syndrome 7q11.23 region.

Authors: Giuseppe Merla; Nicola Brunetti-Pierri; Lucia Micale; Carmela Fusco
Journal: Hum Genet Date: 2010-05-01 Impact factor: 4.132

10. Comparative mapping of the region of human chromosome 7 deleted in williams syndrome.

Authors: U DeSilva; H Massa; B J Trask; E D Green
Journal: Genome Res Date: 1999-05 Impact factor: 9.043