Literature DB >> 7196945

Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindred.

M P Whyte, V V Weldon.   

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Year:  1981        PMID： 7196945     DOI： 10.1016/s0022-3476(81)80272-7

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  17 in total

1.  Long-standing latent idiopathic hypoparathyroidism discovered during concurrent central nervous system disease.

Authors:  B E Wilson; S Tawney
Journal:  West J Med       Date:  1992-08

Review 2.  Molecular genetics of mineral metabolic disorders.

Authors:  R V Thakker
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

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.  Gene mapping of mineral metabolic disorders.

Authors:  R V Thakker; K E Davies; J L O'Riordan
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

5.  Primary familial hypoparathyroidism with an autosomal dominant mode of inheritance.

Authors:  C De Campo; L Piscopello; C Noacco; P Da Col; G C Englaro; A Benedetti
Journal:  J Endocrinol Invest       Date:  1988-02       Impact factor: 4.256

6.  Male triplets concordant for X-linked recessive nonsyndromic hypoparathyroidism.

Authors:  A S Teebi; A R Kishawi; A H Malek
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

7.  Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in males.

Authors:  Roger E Stevenson; Cam K Brasington; Cindy Skinner; Richard J Simensen; J Edward Spence; Shelli Kesler; Allan L Reiss; Charles E Schwartz
Journal:  Am J Med Genet A       Date:  2007-10-01       Impact factor: 2.802

8.  Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research.

Authors:  John P Bilezikian; Aliya Khan; John T Potts; Maria Luisa Brandi; Bart L Clarke; Dolores Shoback; Harald Jüppner; Pierre D'Amour; John Fox; Lars Rejnmark; Leif Mosekilde; Mishaela R Rubin; David Dempster; Rachel Gafni; Michael T Collins; Jim Sliney; James Sanders
Journal:  J Bone Miner Res       Date:  2011-10       Impact factor: 6.741

9.  Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.

Authors:  D Trump; P H Dixon; S Mumm; C Wooding; K E Davies; D Schlessinger; M P Whyte; R V Thakker
Journal:  J Med Genet       Date:  1998-11       Impact factor: 6.318

10.  mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation.

Authors:  S Mumm; M P Whyte; R V Thakker; K H Buetow; D Schlessinger
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025
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