Literature DB >> 8558565

WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2).

J M McGaughran1, H B Ward, D G Evans.   

Abstract

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Year:  1995        PMID： 8558565      PMCID： PMC1051711          DOI： 10.1136/jmg.32.10.823

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


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  10 in total

1.  ASSOCIATION OF WILMS'S TUMOR WITH ANIRIDIA, HEMIHYPERTROPHY AND OTHER CONGENITAL MALFORMATIONS.

Authors:  R W MILLER; J F FRAUMENI; M D MANNING
Journal:  N Engl J Med       Date:  1964-04-30       Impact factor: 91.245

2.  Multiple exostoses in a patient with t(8;11)(q24.11;p15.5).

Authors:  R F Ogle; P Dalzell; G Turner; D Wass; M Y Yip
Journal:  J Med Genet       Date:  1991-12       Impact factor: 6.318

3.  Hereditary multiple exostoses.

Authors:  R C Hennekam
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

4.  Wilm's-aniridia syndrome with transient hypo-gamma-globulinaemia of infancy.

Authors:  D I Evans; A Holzel
Journal:  Arch Dis Child       Date:  1973-08       Impact factor: 3.791

Review 5.  Clinical phenotypes and Wilms tumor.

Authors:  C L Clericuzio
Journal:  Med Pediatr Oncol       Date:  1993

6.  Genetic heterogeneity in families with hereditary multiple exostoses.

Authors:  A Cook; W Raskind; S H Blanton; R M Pauli; R G Gregg; C A Francomano; E Puffenberger; E U Conrad; G Schmale; G Schellenberg
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

7.  Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11.

Authors:  Y Q Wu; P Heutink; B B de Vries; L A Sandkuijl; A M van den Ouweland; M F Niermeijer; H Galjaard; E Reyniers; P J Willems; D J Halley
Journal:  Hum Mol Genet       Date:  1994-01       Impact factor: 6.150

8.  A gene for hereditary multiple exostoses maps to chromosome 19p.

Authors:  M Le Merrer; L Legeai-Mallet; P M Jeannin; B Horsthemke; A Schinzel; H Plauchu; A Toutain; F Achard; A Munnich; P Maroteaux
Journal:  Hum Mol Genet       Date:  1994-05       Impact factor: 6.150

9.  Wilms's tumour and aniridia: clinical and cytogenetic features.

Authors:  R S Shannon; J R Mann; E Harper; D G Harnden; J E Morten; A Herbert
Journal:  Arch Dis Child       Date:  1982-09       Impact factor: 3.791

10.  Obesity: a new feature of WAGR (del 11p) syndrome.

Authors:  S Marlin; D Couet; D Lacombe; C Cessans; D Bonneau
Journal:  Clin Dysmorphol       Date:  1994-07       Impact factor: 0.816
  10 in total
  7 in total

1.  Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.

Authors:  O Bartsch; W Wuyts; W Van Hul; J T Hecht; P Meinecke; D Hogue; W Werner; B Zabel; G K Hinkel; C M Powell; L G Shaffer; P J Willems
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

2.  Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation.

Authors:  C Palka; M Alfonsi; A Mohn; P Guanciali Franchi; F Chiarelli; G Calabrese
Journal:  Mol Syndromol       Date:  2012-04-27

3.  BDNF regulates eating behavior and locomotor activity in mice.

Authors:  S G Kernie; D J Liebl; L F Parada
Journal:  EMBO J       Date:  2000-03-15       Impact factor: 11.598

4.  Analysis of Pax6 contiguous gene deletions in the mouse, Mus musculus, identifies regions distinct from Pax6 responsible for extreme small-eye and belly-spotting phenotypes.

Authors:  Jack Favor; Alan Bradley; Nathalie Conte; Dirk Janik; Walter Pretsch; Peter Reitmeir; Michael Rosemann; Wolfgang Schmahl; Johannes Wienberg; Irmgard Zaus
Journal:  Genetics       Date:  2009-05-27       Impact factor: 4.562

5.  Brain-derived neurotrophic factor and obesity in the WAGR syndrome.

Authors:  Joan C Han; Qing-Rong Liu; MaryPat Jones; Rebecca L Levinn; Carolyn M Menzie; Kyra S Jefferson-George; Diane C Adler-Wailes; Ethan L Sanford; Felicitas L Lacbawan; George R Uhl; Owen M Rennert; Jack A Yanovski
Journal:  N Engl J Med       Date:  2008-08-28       Impact factor: 91.245

6.  Identification of a 6-month-old baby with a combination of WAGR and Potocki-Shaffer contiguous deletion syndromes by SNP array testing.

Authors:  Yan Meng; Jun Yang; Chan Tian; Jie Qiao
Journal:  Hereditas       Date:  2020-05-23       Impact factor: 3.271

7.  11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report.

Authors:  Gitte J Almind; Karen Brøndum-Nielsen; Regitze Bangsgaard; Peter Baekgaard; Karen Grønskov
Journal:  Mol Cytogenet       Date:  2009-02-17       Impact factor: 2.009
  7 in total

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