Literature DB >> 7847392

A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome.

B Gilbert-Dussardier, D Bonneau, N Gigarel, M Le Merrer, D Bonnet, N Philip, F Serville, A Verloes, A Rossi, S Aymé.   

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Year:  1995        PMID： 7847392      PMCID： PMC1801136     

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


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  9 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.  Supravalvular aortic stenosis.

Authors:  J C WILLIAMS; B G BARRATT-BOYES; J B LOWE
Journal:  Circulation       Date:  1961-12       Impact factor: 29.690

3.  Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance.

Authors:  A J BEUREN; J APITZ; D HARMJANZ
Journal:  Circulation       Date:  1962-12       Impact factor: 29.690

4.  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

5.  Integrated human genome-wide maps constructed using the CEPH reference panel.

Authors:  K H Buetow; J L Weber; S Ludwigsen; T Scherpbier-Heddema; G M Duyk; V C Sheffield; Z Wang; J C Murray
Journal:  Nat Genet       Date:  1994-04       Impact factor: 38.330

6.  Human elastin gene: new evidence for localization to the long arm of chromosome 7.

Authors:  M J Fazio; M G Mattei; E Passage; M L Chu; D Black; E Solomon; J M Davidson; J Uitto
Journal:  Am J Hum Genet       Date:  1991-04       Impact factor: 11.025

7.  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

8.  Williams syndrome: autosomal dominant inheritance.

Authors:  C A Morris; I T Thomas; F Greenberg
Journal:  Am J Med Genet       Date:  1993-09-15

9.  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 in total
  13 in total

1.  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

2.  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

Review 3.  Williams syndrome starts making sense.

Authors:  J Ashkenas
Journal:  Am J Hum Genet       Date:  1996-10       Impact factor: 11.025

4.  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

5.  Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.

Authors:  Maria Delio; Tingwei Guo; Donna M McDonald-McGinn; Elaine Zackai; Sean Herman; Mark Kaminetzky; Anne Marie Higgins; Karlene Coleman; Carolyn Chow; Maria Jalbrzikowski; Maria Jarlbrzkowski; Carrie E Bearden; Alice Bailey; Anders Vangkilde; Line Olsen; Charlotte Olesen; Flemming Skovby; Thomas M Werge; Ludivine Templin; Tiffany Busa; Nicole Philip; Ann Swillen; Joris R Vermeesch; Koen Devriendt; Maude Schneider; Sophie Dahoun; Stephan Eliez; Kelly Schoch; Stephen R Hooper; Vandana Shashi; Joy Samanich; Robert Marion; Therese van Amelsvoort; Erik Boot; Petra Klaassen; Sasja N Duijff; Jacob Vorstman; Tracy Yuen; Candice Silversides; Eva Chow; Anne Bassett; Amos Frisch; Abraham Weizman; Doron Gothelf; Maria Niarchou; Marianne van den Bree; Michael J Owen; Damian Heine Suñer; Jordi Rosell Andreo; Marco Armando; Stefano Vicari; Maria Cristina Digilio; Adam Auton; Wendy R Kates; Tao Wang; Robert J Shprintzen; Beverly S Emanuel; Bernice E Morrow
Journal:  Am J Hum Genet       Date:  2013-02-28       Impact factor: 11.025

6.  The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development.

Authors:  Andrew T N Tebbenkamp; Luis Varela; Jinmyung Choi; Miguel I Paredes; Alice M Giani; Jae Eun Song; Matija Sestan-Pesa; Daniel Franjic; André M M Sousa; Zhong-Wu Liu; Mingfeng Li; Candace Bichsel; Marco Koch; Klara Szigeti-Buck; Fuchen Liu; Zhuo Li; Yuka I Kawasawa; Constantinos D Paspalas; Yann S Mineur; Paolo Prontera; Giuseppe Merla; Marina R Picciotto; Amy F T Arnsten; Tamas L Horvath; Nenad Sestan
Journal:  Cell       Date:  2018-11-01       Impact factor: 41.582

7.  Echocardiographic findings in patients with Williams-Beuren syndrome.

Authors:  Dora Scheiber; Gyorgy Fekete; Zoltan Urban; Ildiko Tarjan; Gergely Balaton; Lajos Kosa; Katalin Nagy; Zoltan Vajo
Journal:  Wien Klin Wochenschr       Date:  2006-09       Impact factor: 1.704

8.  Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.

Authors:  C M Brewer; N Morrison; J L Tolmie
Journal:  Arch Dis Child       Date:  1996-01       Impact factor: 3.791

9.  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

10.  William's syndrome: gene expression is related to parental origin and regional coordinate control.

Authors:  Jeremy C Collette; Xiao-Ning Chen; Debra L Mills; Albert M Galaburda; Allan L Reiss; Ursula Bellugi; Julie R Korenberg
Journal:  J Hum Genet       Date:  2009-03-13       Impact factor: 3.172
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