Literature DB >> 7526938

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

S Marlin1, D Couet, D Lacombe, C Cessans, D Bonneau.   

Abstract

A 6-year-old girl with del(11)(p14p12) is reported. This girl has the multiple congenital anomalies that defines the WAGR syndrome (aniridia, external genital hypoplasia and severe mental retardation). She has, in addition, very severe obesity (+10 SD) which is not a feature usually described with WAGR association.

Entities:  

Mesh：

Year:  1994        PMID： 7526938

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  10 in total

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

Authors:  J M McGaughran; H B Ward; D G Evans
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

2.  Serum brain-derived neurotrophic factor concentrations in lean and overweight children and adolescents.

Authors:  Areeg H El-Gharbawy; Diane C Adler-Wailes; Margaret C Mirch; Kelly R Theim; Lisa Ranzenhofer; Marian Tanofsky-Kraff; Jack A Yanovski
Journal:  J Clin Endocrinol Metab       Date:  2006-06-20       Impact factor: 5.958

3.  Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management.

Authors:  Kelly A Duffy; Kelly L Trout; Jennifer M Gunckle; Shari McCullen Krantz; John Morris; Jennifer M Kalish
Journal:  Front Pediatr       Date:  2021-12-14       Impact factor: 3.418

4.  A novel WT1 mutation in a 46,XY boy with congenital bilateral cryptorchidism, nystagmus and Wilms tumor.

Authors:  Monica Terenziani; Michele Sardella; Beatrice Gamba; Maria Adele Testi; Filippo Spreafico; Gianluigi Ardissino; Fausto Fedeli; Franca Fossati-Bellani; Paolo Radice; Daniela Perotti
Journal:  Pediatr Nephrol       Date:  2008-12-02       Impact factor: 3.714

5.  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

6.  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

Review 7.  Genetics of Obesity in Humans: A Clinical Review.

Authors:  Ranim Mahmoud; Virginia Kimonis; Merlin G Butler
Journal:  Int J Mol Sci       Date:  2022-09-20       Impact factor: 6.208

8.  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

Review 9.  The genetic architecture of aniridia and Gillespie syndrome.

Authors:  Hildegard Nikki Hall; Kathleen A Williamson; David R FitzPatrick
Journal:  Hum Genet       Date:  2018-09-22       Impact factor: 4.132

Review 10.  The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.

Authors:  Dulce Lima Cunha; Gavin Arno; Marta Corton; Mariya Moosajee
Journal:  Genes (Basel)       Date:  2019-12-17       Impact factor: 4.096
  10 in total

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