Literature DB >> 8209907

Coincident DiGeorge anomaly and renal agenesis and its relation to maternal diabetes.

R W Novak1, H B Robinson.   

Abstract

We describe 2 cases of DiGeorge anomaly with bilateral renal agenesis-one, who also had hemivertebrae, in an infant of an insulin-dependent diabetic mother (IDDM). In a review we identified 2 other instances of this combination, both in IDDMs. The currently accepted notion that DiGeorge anomaly and renal agenesis are developmental field defects, coupled with their coincidence in IDDM, suggests that this combination is an association.

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Year:  1994        PMID: 8209907     DOI: 10.1002/ajmg.1320500402

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  8 in total

Review 1.  Congenital malformations in offspring of diabetic mothers--animal and human studies.

Authors:  Ulf J Eriksson; Jonas Cederberg; Parri Wentzel
Journal:  Rev Endocr Metab Disord       Date:  2003-03       Impact factor: 6.514

2.  Diabetic embryopathy: a developmental perspective from fertilization to adulthood.

Authors:  M Castori
Journal:  Mol Syndromol       Date:  2013-02

3.  Multiple causes of human kidney malformations.

Authors:  A S Woolf
Journal:  Arch Dis Child       Date:  1997-12       Impact factor: 3.791

4.  Maternal diabetes in the rat impairs the formation of neural-crest derived cranial nerve ganglia in the offspring.

Authors:  J Cederberg; J J Picard; U J Eriksson
Journal:  Diabetologia       Date:  2003-06-27       Impact factor: 10.122

Review 5.  Molecular Insights Into the Causes of Human Thymic Hypoplasia With Animal Models.

Authors:  Pratibha Bhalla; Christian A Wysocki; Nicolai S C van Oers
Journal:  Front Immunol       Date:  2020-05-05       Impact factor: 7.561

Review 6.  Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia.

Authors:  E Graham Davies
Journal:  Front Immunol       Date:  2013-10-31       Impact factor: 7.561

Review 7.  T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features.

Authors:  Giuliana Giardino; Carla Borzacchiello; Martina De Luca; Roberta Romano; Rosaria Prencipe; Emilia Cirillo; Claudio Pignata
Journal:  Front Immunol       Date:  2020-08-14       Impact factor: 7.561

8.  Essential role of the Crk family-dosage in DiGeorge-like anomaly and metabolic homeostasis.

Authors:  Akira Imamoto; Sewon Ki; Leiming Li; Kazunari Iwamoto; Venkat Maruthamuthu; John Devany; Ocean Lu; Tomomi Kanazawa; Suxiang Zhang; Takuji Yamada; Akiyoshi Hirayama; Shinji Fukuda; Yutaka Suzuki; Mariko Okada
Journal:  Life Sci Alliance       Date:  2020-02-10
  8 in total

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