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Quoted phrase not found in phrase index: "Hypoparathyroidism - X-linked"
Page 1
Thyroid autoimmunity and polyglandular endocrine syndromes.
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L. Wémeau JL, et al. Hormones (Athens). 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. Hormones (Athens). 2013. PMID: 23624130 Free article. Review.
Thyroid disorders, which are the most frequent expression of adult polyendocrine syndrome type 2, occur concomitantly with or secondarily to insulinodependent diabetes, premature ovarian failure, Addison's disease (Schmidt syndrome, or Carpenter syndrome if associated with diabet …
Thyroid disorders, which are the most frequent expression of adult polyendocrine syndrome type 2, occur concomitantly with or secondarily to …
A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism.
Pillar N, Pleniceanu O, Fang M, Ziv L, Lahav E, Botchan S, Cheng L, Dekel B, Shomron N. Pillar N, et al. Hum Genet. 2017 Jul;136(7):835-845. doi: 10.1007/s00439-017-1804-9. Epub 2017 Apr 25. Hum Genet. 2017. PMID: 28444561 Free PMC article.
Isolated familial hypoparathyroidism is an extremely rare disorder, which to date has been linked to several loci including mutations in CASR, GCM2, and PTH, as well as a rare condition defined as X-linked recessive hypoparathyroidism, previously assoc …
Isolated familial hypoparathyroidism is an extremely rare disorder, which to date has been linked to several loci including mutations …
Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.
Thakker RV, Davies KE, Whyte MP, Wooding C, O'Riordan JL. Thakker RV, et al. J Clin Invest. 1990 Jul;86(1):40-5. doi: 10.1172/JCI114712. J Clin Invest. 1990. PMID: 1973175 Free PMC article.
Idiopathic hypoparathyroidism has been reported to occur as an X-linked recessive disorder in two multigeneration kindreds. ...We have performed linkage studies in these two kindreds (5 affected males, 11 obligate carrier females, and 44 unaffected members) a …
Idiopathic hypoparathyroidism has been reported to occur as an X-linked recessive disorder in two multigeneration kindr …
Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.
Trump D, Dixon PH, Mumm S, Wooding C, Davies KE, Schlessinger D, Whyte MP, Thakker RV. Trump D, et al. J Med Genet. 1998 Nov;35(11):905-9. doi: 10.1136/jmg.35.11.905. J Med Genet. 1998. PMID: 9832036 Free PMC article.
X linked recessive idiopathic hypoparathyroidism (HPT) has been observed in two kindreds from Missouri, USA. ...In order to define further the map location of HPT and thereby facilitate its isolation, we have undertaken linkage studies using polymorphi …
X linked recessive idiopathic hypoparathyroidism (HPT) has been observed in two kindreds from Missouri, USA. ... …
FGF-23 is elevated by chronic hyperphosphatemia.
Gupta A, Winer K, Econs MJ, Marx SJ, Collins MT. Gupta A, et al. J Clin Endocrinol Metab. 2004 Sep;89(9):4489-92. doi: 10.1210/jc.2004-0724. J Clin Endocrinol Metab. 2004. PMID: 15356053
Serum levels of FGF-23 are elevated in patients with renal phosphate wasting disorders such as tumor induced osteomalacia, X-linked hypophosphatemia and fibrous dysplasia. However, the factors that alter its serum concentration are not known. ...Patients with hyp …
Serum levels of FGF-23 are elevated in patients with renal phosphate wasting disorders such as tumor induced osteomalacia, X-linke …
Transcription map of Xq27: candidates for several X-linked diseases.
Zucchi I, Jones J, Affer M, Montagna C, Redolfi E, Susani L, Vezzoni P, Parvari R, Schlessinger D, Whyte MP, Mumm S. Zucchi I, et al. Genomics. 1999 Apr 15;57(2):209-18. doi: 10.1006/geno.1999.5768. Genomics. 1999. PMID: 10198160
Among them is a region at the centromeric boundary that contains candidate regions for several rare developmental disorders (X-linked recessive hypoparathyroidism, thoracoabdominal syndrome, albinism-deafness syndrome, and Borjeson-Forssman-Lehman syndrome). …
Among them is a region at the centromeric boundary that contains candidate regions for several rare developmental disorders (X-lin …
Distinct pattern of neostriatal calcifications in dyskeratosis congenita: A case report and literature review.
Abdollahi M, Gao MM, Munoz DG. Abdollahi M, et al. Clin Neuropathol. 2018 Nov/Dec;37(6):277-282. doi: 10.5414/NP301088. Clin Neuropathol. 2018. PMID: 30106361 Review.
Genetic mutations resulting in shortened telomeres have been shown to cause DKC, which is the basis for categorizing it as a "premature aging syndrome". Different modes of inheritance have been identified with X-linked recessive as the most common. There have been r …
Genetic mutations resulting in shortened telomeres have been shown to cause DKC, which is the basis for categorizing it as a "premature agin …
The etiology of enamel hypoplasia: a unifying concept.
Nikiforuk G, Fraser D. Nikiforuk G, et al. J Pediatr. 1981 Jun;98(6):888-93. doi: 10.1016/s0022-3476(81)80580-x. J Pediatr. 1981. PMID: 6262472
In a study of children with chronic disorders of calcium and phosphate homeostasis, enamel hypoplasia was found in hereditary vitamin D-dependency rickets and in hypoparathyroidism, conditions characterized by hypocalcemia, and was not found in X-linked hypop …
In a study of children with chronic disorders of calcium and phosphate homeostasis, enamel hypoplasia was found in hereditary vitamin D-depe …
HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.
Yang A, Kim J, Ki CS, Hong SH, Cho SY, Jin DK. Yang A, et al. BMC Med Genet. 2017 Oct 26;18(1):121. doi: 10.1186/s12881-017-0484-6. BMC Med Genet. 2017. PMID: 29073906 Free PMC article.
CASE PRESENTATION: A 14-month-old boy, with sensorineural hearing loss in both ears, showed typical radiological features of X-linked stapes gusher on preoperative temporal bone computed tomography (CT) for cochlear implantations. ...CONCLUSIONS: To our knowledge, t …
CASE PRESENTATION: A 14-month-old boy, with sensorineural hearing loss in both ears, showed typical radiological features of X-lin …