Literature DB >> 9598740

A mother with VCFS and unilateral dysplastic kidney and her fetus with multicystic dysplastic kidneys: additional evidence to support the association of renal malformations and VCFS.

P M Czarnecki, D L Van Dyke, S Vats, G L Feldman.   

Abstract

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Mesh：

Year:  1998        PMID： 9598740      PMCID： PMC1051299          DOI： 10.1136/jmg.35.4.348

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


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  5 in total

1.  A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

Authors:  D A Driscoll; M L Budarf; B S Emanuel
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

2.  Chromosome 22q11 deletion presenting as the Potter sequence.

Authors:  K Devriendt; P Moerman; D Van Schoubroeck; K Vandenberghe; J P Fryns
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

3.  Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

Authors:  D A Driscoll; J Salvin; B Sellinger; M L Budarf; D M McDonald-McGinn; E H Zackai; B S Emanuel
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

Review 4.  Decrease in thyrocalcitonin-containing cells and analysis of other congenital anomalies in 11 patients with DiGeorge anomaly.

Authors:  J Palacios; C Gamallo; M García; J I Rodríguez
Journal:  Am J Med Genet       Date:  1993-07-01

5.  Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region.

Authors:  E A Lindsay; F Greenberg; L G Shaffer; S K Shapira; P J Scambler; A Baldini
Journal:  Am J Med Genet       Date:  1995-03-27
  5 in total
  2 in total

Review 1.  Velo-cardio-facial syndrome: 30 Years of study.

Authors:  Robert J Shprintzen
Journal:  Dev Disabil Res Rev       Date:  2008

2.  Implications of copy number variation in people with chromosomal abnormalities: potential for greater variation in copy number state may contribute to variability of phenotype.

Authors:  Adam J de Smith; Anne L Trewick; Alexandra I F Blakemore
Journal:  Hugo J       Date:  2010-08-10
  2 in total

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