Literature DB >> 3537294

Williams syndrome.

J Burn.   

Abstract

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Year:  1986        PMID： 3537294      PMCID： PMC1049773          DOI： 10.1136/jmg.23.5.389

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  42 in total

1.  The Williams elfin facies syndrome. A new perspective.

Authors:  K L Jones; D W Smith
Journal:  J Pediatr       Date:  1975-05       Impact factor: 4.406

2.  Familial occurrence of the Williams syndrome.

Authors:  R A White; M Preus; G V Watters; F C Fraser
Journal:  J Pediatr       Date:  1977-10       Impact factor: 4.406

3.  Supravalvular aortic stenosis-infantile hypercalcaemia syndrome: in vitro hypersensitivity to vitamin D2 and calcium.

Authors:  D M Becroft; D Chambers
Journal:  J Med Genet       Date:  1976-06       Impact factor: 6.318

4.  Impaired calcium homeostasis in the infantile hypercalcemic syndrome.

Authors:  G B Forbes; M F Bryson; J Manning; G H Amirhakimi; J C Reina
Journal:  Acta Paediatr Scand       Date:  1972-05

5.  Further observation on the syndrome of idiopathic infantile hypercalcemia associated with supravalvular aortic stenosis.

Authors:  G M Folger
Journal:  Am Heart J       Date:  1977-04       Impact factor: 4.749

6.  Vitamin-D-binding protein in the Williams syndrome and idiopathic hypercalcemia.

Authors:  S P Daiger; M Miller; G Romeo; M Parsons; L L Cavalli-Sforza
Journal:  N Engl J Med       Date:  1978-03-23       Impact factor: 91.245

7.  Familial supravalvular aortic stenosis.

Authors:  M Dumoulin; L Van der Hauwaert
Journal:  Acta Paediatr Belg       Date:  1978 Jul-Sep

8.  Ocular pathology in the elfin face syndrome (the Fanconi-Schlesinger type of idiopathic hypercalcaemia of infancy). Histochemical and ultrastructural study of a case.

Authors:  O A Jensen; M Warburg; A Dupont
Journal:  Ophthalmologica       Date:  1976       Impact factor: 3.250

9.  Familial supravalvular aortic stenosis. Report of a large family and review of the literature.

Authors:  L W Johnson; R A Fishman; B Schneider; F B Parker; G Husson; W R Webb
Journal:  Chest       Date:  1976-10       Impact factor: 9.410

10.  Supravalvular aortic stenosis with parafollicular cell (C-cell) hyperplasia.

Authors:  G M Hutchins; S E Mirvis; G Mendelsohn; B H Bulkley
Journal:  Am J Med       Date:  1978-06       Impact factor: 4.965
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  23 in total

1.  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

2.  Williams syndrome and chromosome 18.

Authors:  F H Menko; P J Stouthart
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

3.  Radio-ulnar synostosis in Williams syndrome. A frequently associated anomaly.

Authors:  K A Charvat; L Hornstein; A E Oestreich
Journal:  Pediatr Radiol       Date:  1991

4.  A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome.

Authors:  R D Jefferson; J Burn; K L Gaunt; S Hunter; E V Davison
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

Review 5.  The contribution of GTF2I haploinsufficiency to Williams syndrome.

Authors:  Thanathom Chailangkarn; Chalongrat Noree; Alysson R Muotri
Journal:  Mol Cell Probes       Date:  2018-01-03       Impact factor: 2.365

6.  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

7.  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

8.  Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.

Authors:  D Kotzot; F Bernasconi; L Brecevic; W P Robinson; P Kiss; G Kosztolanyi; I W Lurie; A Superti-Furga; A Schinzel
Journal:  Eur J Pediatr       Date:  1995-06       Impact factor: 3.183

9.  Exclusion of calcitonin as a candidate gene for the basic defect in a family with autosomal dominant supravalvular aortic stenosis.

Authors:  C P Bennett; J Burn; G E Moore; J Chambers; R Williamson; J Wilkinson
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

10.  A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.

Authors:  A K Ewart; C A Morris; G J Ensing; J Loker; C Moore; M Leppert; M Keating
Journal:  Proc Natl Acad Sci U S A       Date:  1993-04-15       Impact factor: 11.205
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