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Quoted phrase not found in phrase index: "Panhypopituitarism, X-linked"
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X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.
Lagerström-Fermér M, Sundvall M, Johnsen E, Warne GL, Forrest SM, Zajac JD, Rickards A, Ravine D, Landegren U, Pettersson U. Lagerström-Fermér M, et al. Am J Hum Genet. 1997 Apr;60(4):910-6. Am J Hum Genet. 1997. PMID: 9106538 Free PMC article.
We present a linkage analysis and a clinical update on a previously reported family with X-linked recessive panhypopituitarism, now in its fourth generation. ...The markers DXS737 and DXS1187 in the q25-q26 region of the X chromosome showed evidence for linka …
We present a linkage analysis and a clinical update on a previously reported family with X-linked recessive panhypopituitar …
SOX3 deletion in mouse and human is associated with persistence of the craniopharyngeal canal.
Alatzoglou KS, Azriyanti A, Rogers N, Ryan F, Curry N, Noakes C, Bignell P, Hall GW, Littooij AS, Saunders D, Thomas P, Stewart H, Dattani MT. Alatzoglou KS, et al. J Clin Endocrinol Metab. 2014 Dec;99(12):E2702-8. doi: 10.1210/jc.2014-1160. J Clin Endocrinol Metab. 2014. PMID: 25140394
CONTEXT: SOX3 is an early developmental transcription factor involved in pituitary development. In humans, over- and underdosage of SOX3 is associated with X-linked hypopituitarism with variable phenotypes ranging from isolated GH deficiency (GHD) to panhypopitui …
CONTEXT: SOX3 is an early developmental transcription factor involved in pituitary development. In humans, over- and underdosage of SOX3 is …
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
Corbett MA, Dudding-Byth T, Crock PA, Botta E, Christie LM, Nardo T, Caligiuri G, Hobson L, Boyle J, Mansour A, Friend KL, Crawford J, Jackson G, Vandeleur L, Hackett A, Tarpey P, Stratton MR, Turner G, Gécz J, Field M. Corbett MA, et al. J Med Genet. 2015 Apr;52(4):269-74. doi: 10.1136/jmedgenet-2014-102418. Epub 2015 Jan 22. J Med Genet. 2015. PMID: 25612912
The mutation segregated with the disease in the family and was not observed in over 100,000 control X chromosomes. The mutation markedly reduced RNF113A protein expression in extracts from lymphoblastoid cell lines derived from the affected individuals. CONCLUSIONS: The as …
The mutation segregated with the disease in the family and was not observed in over 100,000 control X chromosomes. The mutation marke …
X-linked recessive combined pituitary hormone deficiency is mapped to Xp22.3-Xp11 in a Chinese family.
Wang CL, Liang L, Shen Z, Zou CC, Fu JF, Dong GP. Wang CL, et al. Genomics. 2011 Dec;98(6):440-4. doi: 10.1016/j.ygeno.2011.09.002. Epub 2011 Oct 6. Genomics. 2011. PMID: 22001696 Free article.
Genetic mutations have been identified in a modest proportion of patients with combined pituitary hormone deficiency (CPHD). We reported a 3-generation family consisting of 18 members, including 5 affected males (the proband, his 2 brothers, his cousin …
Genetic mutations have been identified in a modest proportion of patients with combined pituitary hormone deficiency …