Literature DB >> 2063928

DiGeorge anomaly associated with 10p deletion.

G Monaco1, C Pignata, E Rossi, O Mascellaro, S Cocozza, F Ciccimarra.   

Abstract

DiGeorge anomaly (DGA) represents a heterogeneous entity, which is often sporadic, although familial cases and the association with monosomy 22q11 have been reported. Recently, a few patients with 10p deletion syndrome and immunological and other laboratory findings similar to DGA have been described. We report on an additional case of partial DGA associated with 10p deletion.

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Mesh：

Year:  1991        PMID： 2063928     DOI： 10.1002/ajmg.1320390220

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


  15 in total

1.  A prospective cytogenetic study of 36 cases of DiGeorge syndrome.

Authors:  D I Wilson; I E Cross; J A Goodship; J Brown; P J Scambler; H H Bain; J F Taylor; K Walsh; A Bankier; J Burn
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

2.  Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism.

Authors:  M M Lai; P N Scriven; C Ball; A C Berry
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

Review 3.  Genetics of endocrine and metabolic disorders: parathyroid.

Authors:  R V Thakker
Journal:  Rev Endocr Metab Disord       Date:  2004-03       Impact factor: 6.514

Review 4.  Genetic Disorders of Parathyroid Development and Function.

Authors:  Rebecca J Gordon; Michael A Levine
Journal:  Endocrinol Metab Clin North Am       Date:  2018-10-12       Impact factor: 4.741

Review 5.  The yin and yang of protein kinase C-theta (PKCθ): a novel drug target for selective immunosuppression.

Authors:  Elizabeth Yan Zhang; Kok-Fai Kong; Amnon Altman
Journal:  Adv Pharmacol       Date:  2013

Review 6.  Immunological aspects of 22q11.2 deletion syndrome.

Authors:  A R Gennery
Journal:  Cell Mol Life Sci       Date:  2011-10-09       Impact factor: 9.261

7.  Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

Authors:  K E Sullivan; D McDonald-McGinn; D A Driscoll; B S Emanuel; E H Zackai; A F Jawad
Journal:  Clin Diagn Lab Immunol       Date:  1999-11

Review 8.  22q11 deletion syndrome: a genetic subtype of schizophrenia.

Authors:  A S Bassett; E W Chow
Journal:  Biol Psychiatry       Date:  1999-10-01       Impact factor: 13.382

9.  Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.

Authors:  C Ding; B Buckingham; M A Levine
Journal:  J Clin Invest       Date:  2001-10       Impact factor: 14.808

10.  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
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