Shaw N - Search Results

1

A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet.

Raeder H, Shaw N, Netelenbos C, Bjerknes R. Raeder H, et al. Among authors: shaw n. Eur J Endocrinol. 2008 Dec;159 Suppl 1:S101-5. doi: 10.1530/EJE-08-0383. Epub 2008 Sep 5. Eur J Endocrinol. 2008. PMID: 18775977

2

Mutational analysis of PHEX gene in X-linked hypophosphatemia.

Dixon PH, Christie PT, Wooding C, Trump D, Grieff M, Holm I, Gertner JM, Schmidtke J, Shah B, Shaw N, Smith C, Tau C, Schlessinger D, Whyte MP, Thakker RV. Dixon PH, et al. Among authors: shaw n. J Clin Endocrinol Metab. 1998 Oct;83(10):3615-23. doi: 10.1210/jcem.83.10.5180. J Clin Endocrinol Metab. 1998. PMID: 9768674

3

Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.

Steichen-Gersdorf E, Lorenz-Depiereux B, Strom TM, Shaw NJ. Steichen-Gersdorf E, et al. J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):967-70. doi: 10.1515/jpem-2014-0531. J Pediatr Endocrinol Metab. 2015. PMID: 25741938

4

Rickets.

Carpenter TO, Shaw NJ, Portale AA, Ward LM, Abrams SA, Pettifor JM. Carpenter TO, et al. Nat Rev Dis Primers. 2017 Dec 21;3:17101. doi: 10.1038/nrdp.2017.101. Nat Rev Dis Primers. 2017. PMID: 29265106 Review.

5

Case histories.

Howard S, Lyder G, Allgrove J, Shaw N. Howard S, et al. Among authors: shaw n. Endocr Dev. 2009;16:246-80. doi: 10.1159/000223699. Epub 2009 Jun 3. Endocr Dev. 2009. PMID: 19494671

6

Causes, patterns and severity of androgen excess in 487 consecutively recruited pre- and post-pubertal children.

Idkowiak J, Elhassan YS, Mannion P, Smith K, Webster R, Saraff V, Barrett TG, Shaw NJ, Krone N, Dias RP, Kershaw M, Kirk JM, Högler W, Krone RE, O'Reilly MW, Arlt W. Idkowiak J, et al. Among authors: shaw nj. Eur J Endocrinol. 2019 Mar 1;180(3):213-221. doi: 10.1530/EJE-18-0854. Eur J Endocrinol. 2019. PMID: 30566905 Free PMC article.

7

A Practical Approach to Vitamin D Deficiency and Rickets.

Allgrove J, Shaw NJ. Allgrove J, et al. Endocr Dev. 2015;28:119-133. doi: 10.1159/000381000. Epub 2015 Jun 12. Endocr Dev. 2015. PMID: 26138839 Review.

8

Parathyroid hormone gene analysis in autosomal hypoparathyroidism using an intragenic tetranucleotide (AAAT)n polymorphism.

Parkinson DB, Shaw NJ, Himsworth RL, Thakker RV. Parkinson DB, et al. Among authors: shaw nj. Hum Genet. 1993 Apr;91(3):281-4. doi: 10.1007/BF00218273. Hum Genet. 1993. PMID: 8478012

9

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

Ali A, Christie PT, Grigorieva IV, Harding B, Van Esch H, Ahmed SF, Bitner-Glindzicz M, Blind E, Bloch C, Christin P, Clayton P, Gecz J, Gilbert-Dussardier B, Guillen-Navarro E, Hackett A, Halac I, Hendy GN, Lalloo F, Mache CJ, Mughal Z, Ong AC, Rinat C, Shaw N, Smithson SF, Tolmie J, Weill J, Nesbit MA, Thakker RV. Ali A, et al. Among authors: shaw n. Hum Mol Genet. 2007 Feb 1;16(3):265-75. doi: 10.1093/hmg/ddl454. Epub 2007 Jan 8. Hum Mol Genet. 2007. PMID: 17210674

10

A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1.

Pearce SH, Cheetham T, Imrie H, Vaidya B, Barnes ND, Bilous RW, Carr D, Meeran K, Shaw NJ, Smith CS, Toft AD, Williams G, Kendall-Taylor P. Pearce SH, et al. Among authors: shaw nj. Am J Hum Genet. 1998 Dec;63(6):1675-84. doi: 10.1086/302145. Am J Hum Genet. 1998. PMID: 9837820 Free PMC article.

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