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Items: 1 to 50 of 68

1.

Effective In Vivo Topical Delivery of siRNA and Gene Silencing in Intact Corneal Epithelium Using a Modified Cell-Penetrating Peptide.

Schiroli D, Gómara MJ, Maurizi E, Atkinson SD, Mairs L, Christie KA, Cobice DF, McCrudden CM, Nesbit MA, Haro I, Moore T.

Mol Ther Nucleic Acids. 2019 Sep 6;17:891-906. doi: 10.1016/j.omtn.2019.07.017. Epub 2019 Aug 1.

2.

Capsid Engineering Overcomes Barriers Toward Adeno-Associated Virus Vector-Mediated Transduction of Endothelial Cells.

Zhang L, Rossi A, Lange L, Meumann N, Koitzsch U, Christie K, Nesbit MA, Moore CBT, Hacker UT, Morgan M, Hoffmann D, Zengel J, Carette JE, Schambach A, Salvetti A, Odenthal M, Büning H.

Hum Gene Ther. 2019 Oct;30(10):1284-1296. doi: 10.1089/hum.2019.027.

PMID:
31407607
3.

Quantitative assessment of the conjunctival microcirculation using a smartphone and slit-lamp biomicroscope.

Brennan PF, McNeil AJ, Jing M, Awuah A, Finlay DD, Blighe K, McLaughlin JAD, Wang R, Moore J, Nesbit MA, Trucco E, Spence MS, Moore TCB.

Microvasc Res. 2019 Nov;126:103907. doi: 10.1016/j.mvr.2019.103907. Epub 2019 Jul 19.

PMID:
31330150
4.

Characterization of the Earliest Intermediate of Fe-N2 Protonation: CW and Pulse EPR Detection of an Fe-NNH Species and Its Evolution to Fe-NNH2.

Nesbit MA, Oyala PH, Peters JC.

J Am Chem Soc. 2019 May 22;141(20):8116-8127. doi: 10.1021/jacs.8b12082. Epub 2019 May 14.

PMID:
31046258
5.

Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing.

Chao-Shern C, DeDionisio LA, Jang JH, Chan CC, Thompson V, Christie K, Nesbit MA, McMullen CBT.

Eye (Lond). 2019 Jun;33(6):874-881. doi: 10.1038/s41433-019-0346-x. Epub 2019 Feb 13. Review.

6.

A novel role for CRIM1 in the corneal response to UV and pterygium development.

Maurizi E, Schiroli D, Atkinson SD, Mairs L, Courtney DG, O'Hagan B, McGilligan VE, Pagnamenta AT, Taylor JC, Vasquez JJD, Illanes-Velarde DE, Goldsmith D, Gouws P, Moore JE, Nesbit MA, Moore CBT.

Exp Eye Res. 2019 Feb;179:75-92. doi: 10.1016/j.exer.2018.10.012. Epub 2018 Oct 24.

PMID:
30365943
7.

An N-Ethyl-N-Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion.

Esapa CT, Piret SE, Nesbit MA, Thomas GP, Coulton LA, Gallagher OM, Simon MM, Kumar S, Mallon AM, Bellantuono I, Brown MA, Croucher PI, Potter PK, Brown SD, Cox RD, Thakker RV.

JBMR Plus. 2018 Mar 8;2(3):154-163. doi: 10.1002/jbm4.10033. eCollection 2018 May.

8.

Gene editing in the context of an increasingly complex genome.

Blighe K, DeDionisio L, Christie KA, Chawes B, Shareef S, Kakouli-Duarte T, Chao-Shern C, Harding V, Kelly RS, Castellano L, Stebbing J, Lasky-Su JA, Nesbit MA, Moore CBT.

BMC Genomics. 2018 Aug 8;19(1):595. doi: 10.1186/s12864-018-4963-8. Review.

9.

Personalised genome editing - The future for corneal dystrophies.

Moore CBT, Christie KA, Marshall J, Nesbit MA.

Prog Retin Eye Res. 2018 Jul;65:147-165. doi: 10.1016/j.preteyeres.2018.01.004. Epub 2018 Jan 31. Review.

PMID:
29378321
10.

Pupil influence on the quality of vision in rotationally asymmetric multifocal IOLs with surface-embedded near segment.

Pazo EE, McNeely RN, Richoz O, Nesbit MA, Moore TCB, Moore JE.

J Cataract Refract Surg. 2017 Nov;43(11):1420-1429. doi: 10.1016/j.jcrs.2017.08.013.

PMID:
29223231
11.

Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family.

Chao-Shern C, Me R, DeDionisio LA, Ke BL, Nesbit MA, Marshall J, Moore CBT.

Eye (Lond). 2018 Jan;32(1):39-43. doi: 10.1038/eye.2017.265. Epub 2017 Dec 1.

12.

Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders.

Christie KA, Courtney DG, DeDionisio LA, Shern CC, De Majumdar S, Mairs LC, Nesbit MA, Moore CBT.

Sci Rep. 2017 Nov 23;7(1):16174. doi: 10.1038/s41598-017-16279-4.

13.

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.

Howles SA, Hannan FM, Gorvin CM, Piret SE, Paudyal A, Stewart M, Hough TA, Nesbit MA, Wells S, Brown SD, Cox RD, Thakker RV.

JCI Insight. 2017 Oct 19;2(20). pii: 96540. doi: 10.1172/jci.insight.96540.

14.

Visual quality and performance comparison between 2 refractive rotationally asymmetric multifocal intraocular lenses.

McNeely RN, Pazo E, Spence A, Richoz O, Nesbit MA, Moore TCB, Moore JE.

J Cataract Refract Surg. 2017 Aug;43(8):1020-1026. doi: 10.1016/j.jcrs.2017.05.039.

PMID:
28917400
15.

Visual outcomes and patient satisfaction 3 and 12 months after implantation of a refractive rotationally asymmetric multifocal intraocular lens.

McNeely RN, Pazo E, Spence A, Richoz O, Nesbit MA, Moore TCB, Moore JE.

J Cataract Refract Surg. 2017 May;43(5):633-638. doi: 10.1016/j.jcrs.2017.01.025.

PMID:
28602324
16.

Mutant Mice With Calcium-Sensing Receptor Activation Have Hyperglycemia That Is Rectified by Calcilytic Therapy.

Babinsky VN, Hannan FM, Ramracheya RD, Zhang Q, Nesbit MA, Hugill A, Bentley L, Hough TA, Joynson E, Stewart M, Aggarwal A, Prinz-Wohlgenannt M, Gorvin CM, Kallay E, Wells S, Cox RD, Richards D, Rorsman P, Thakker RV.

Endocrinology. 2017 Aug 1;158(8):2486-2502. doi: 10.1210/en.2017-00111.

17.

A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress.

Piret SE, Olinger E, Reed AAC, Nesbit MA, Hough TA, Bentley L, Devuyst O, Cox RD, Thakker RV.

Dis Model Mech. 2017 Jun 1;10(6):773-786. doi: 10.1242/dmm.029488. Epub 2017 Mar 21.

18.

Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.

Gorvin CM, Hannan FM, Howles SA, Babinsky VN, Piret SE, Rogers A, Freidin AJ, Stewart M, Paudyal A, Hough TA, Nesbit MA, Wells S, Vincent TL, Brown SD, Cox RD, Thakker RV.

JCI Insight. 2017 Feb 9;2(3):e91103. doi: 10.1172/jci.insight.91103.

19.

Comparison of the visual performance and quality of vision with combined symmetrical inferonasal near addition versus inferonasal and superotemporal placement of rotationally asymmetric refractive multifocal intraocular lenses.

McNeely RN, Pazo E, Spence A, Richoz O, Nesbit MA, Moore TC, Moore JE.

J Cataract Refract Surg. 2016 Dec;42(12):1721-1729. doi: 10.1016/j.jcrs.2016.10.016.

PMID:
28007103
20.

Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling Pathway.

Esapa CT, Piret SE, Nesbit MA, Loh NY, Thomas G, Croucher PI, Brown MA, Brown SD, Cox RD, Thakker RV.

PLoS One. 2016 Dec 13;11(12):e0167916. doi: 10.1371/journal.pone.0167916. eCollection 2016.

21.

Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations.

Howles SA, Hannan FM, Babinsky VN, Rogers A, Gorvin CM, Rust N, Richardson T, McKenna MJ, Nesbit MA, Thakker RV.

N Engl J Med. 2016 Apr 7;374(14):1396-1398. doi: 10.1056/NEJMc1511646. No abstract available. Erratum in: N Engl J Med. 2016 Jun 9;374(23):e30.

22.

Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders.

Babinsky VN, Hannan FM, Gorvin CM, Howles SA, Nesbit MA, Rust N, Hanyaloglu AC, Hu J, Spiegel AM, Thakker RV.

J Biol Chem. 2016 May 13;291(20):10876-85. doi: 10.1074/jbc.M115.696401. Epub 2016 Mar 18.

23.

Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).

Piret SE, Gorvin CM, Pagnamenta AT, Howles SA, Cranston T, Rust N, Nesbit MA, Glaser B, Taylor JC, Buchs AE, Hannan FM, Thakker RV.

J Bone Miner Res. 2016 Jun;31(6):1207-14. doi: 10.1002/jbmr.2797.

24.

Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy.

Allen EH, Courtney DG, Atkinson SD, Moore JE, Mairs L, Poulsen ET, Schiroli D, Maurizi E, Cole C, Hickerson RP, James J, Murgatroyd H, Smith FJ, MacEwen C, Enghild JJ, Nesbit MA, Leslie Pedrioli DM, McLean WH, Moore CB.

Hum Mol Genet. 2016 Mar 15;25(6):1176-91. doi: 10.1093/hmg/ddw001. Epub 2016 Jan 11.

25.

A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2).

Gorvin CM, Cranston T, Hannan FM, Rust N, Qureshi A, Nesbit MA, Thakker RV.

J Bone Miner Res. 2016 Jun;31(6):1200-6. doi: 10.1002/jbmr.2778. Epub 2016 Feb 6.

26.

CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting.

Courtney DG, Moore JE, Atkinson SD, Maurizi E, Allen EH, Pedrioli DM, McLean WH, Nesbit MA, Moore CB.

Gene Ther. 2016 Jan;23(1):108-12. doi: 10.1038/gt.2015.82. Epub 2015 Aug 20.

27.

Protein Composition of TGFBI-R124C- and TGFBI-R555W-Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy.

Courtney DG, Poulsen ET, Kennedy S, Moore JE, Atkinson SD, Maurizi E, Nesbit MA, Moore CB, Enghild JJ.

Invest Ophthalmol Vis Sci. 2015 Jul;56(8):4653-61. doi: 10.1167/iovs.15-16922.

PMID:
26207300
28.

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.

Hannan FM, Howles SA, Rogers A, Cranston T, Gorvin CM, Babinsky VN, Reed AA, Thakker CE, Bockenhauer D, Brown RS, Connell JM, Cook J, Darzy K, Ehtisham S, Graham U, Hulse T, Hunter SJ, Izatt L, Kumar D, McKenna MJ, McKnight JA, Morrison PJ, Mughal MZ, O'Halloran D, Pearce SH, Porteous ME, Rahman M, Richardson T, Robinson R, Scheers I, Siddique H, Van't Hoff WG, Wang T, Whyte MP, Nesbit MA, Thakker RV.

Hum Mol Genet. 2015 Sep 15;24(18):5079-92. doi: 10.1093/hmg/ddv226. Epub 2015 Jun 16.

29.

The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1).

Hannan FM, Walls GV, Babinsky VN, Nesbit MA, Kallay E, Hough TA, Fraser WD, Cox RD, Hu J, Spiegel AM, Thakker RV.

Endocrinology. 2015 Sep;156(9):3114-21. doi: 10.1210/en.2015-1269. Epub 2015 Jun 8.

30.

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB, Rimmer A, Kanapin A, Lunter G, Fiddy S, Allan C, Aricescu AR, Attar M, Babbs C, Becq J, Beeson D, Bento C, Bignell P, Blair E, Buckle VJ, Bull K, Cais O, Cario H, Chapel H, Copley RR, Cornall R, Craft J, Dahan K, Davenport EE, Dendrou C, Devuyst O, Fenwick AL, Flint J, Fugger L, Gilbert RD, Goriely A, Green A, Greger IH, Grocock R, Gruszczyk AV, Hastings R, Hatton E, Higgs D, Hill A, Holmes C, Howard M, Hughes L, Humburg P, Johnson D, Karpe F, Kingsbury Z, Kini U, Knight JC, Krohn J, Lamble S, Langman C, Lonie L, Luck J, McCarthy D, McGowan SJ, McMullin MF, Miller KA, Murray L, Németh AH, Nesbit MA, Nutt D, Ormondroyd E, Oturai AB, Pagnamenta A, Patel SY, Percy M, Petousi N, Piazza P, Piret SE, Polanco-Echeverry G, Popitsch N, Powrie F, Pugh C, Quek L, Robbins PA, Robson K, Russo A, Sahgal N, van Schouwenburg PA, Schuh A, Silverman E, Simmons A, Sørensen PS, Sweeney E, Taylor J, Thakker RV, Tomlinson I, Trebes A, Twigg SR, Uhlig HH, Vyas P, Vyse T, Wall SA, Watkins H, Whyte MP, Witty L, Wright B, Yau C, Buck D, Humphray S, Ratcliffe PJ, Bell JI, Wilkie AO, Bentley D, Donnelly P, McVean G.

Nat Genet. 2015 Jul;47(7):717-726. doi: 10.1038/ng.3304. Epub 2015 May 18.

31.

Role of Ca2+ and L-Phe in regulating functional cooperativity of disease-associated "toggle" calcium-sensing receptor mutations.

Zhang C, Mulpuri N, Hannan FM, Nesbit MA, Thakker RV, Hamelberg D, Brown EM, Yang JJ.

PLoS One. 2014 Nov 24;9(11):e113622. doi: 10.1371/journal.pone.0113622. eCollection 2014.

32.

Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).

Rogers A, Nesbit MA, Hannan FM, Howles SA, Gorvin CM, Cranston T, Allgrove J, Bevan JS, Bano G, Brain C, Datta V, Grossman AB, Hodgson SV, Izatt L, Millar-Jones L, Pearce SH, Robertson L, Selby PL, Shine B, Snape K, Warner J, Thakker RV.

J Clin Endocrinol Metab. 2014 Jul;99(7):E1300-5. doi: 10.1210/jc.2013-3909. Epub 2014 Apr 7.

33.

An N-ethyl-N-nitrosourea induced corticotropin-releasing hormone promoter mutation provides a mouse model for endogenous glucocorticoid excess.

Bentley L, Esapa CT, Nesbit MA, Head RA, Evans H, Lath D, Scudamore CL, Hough TA, Podrini C, Hannan FM, Fraser WD, Croucher PI, Brown MA, Brown SD, Cox RD, Thakker RV.

Endocrinology. 2014 Mar;155(3):908-22. doi: 10.1210/en.2013-1247. Epub 2013 Dec 3.

34.

Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.

Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, Rust N, Hobbs MR, Heath H 3rd, Thakker RV.

N Engl J Med. 2013 Jun 27;368(26):2476-2486. doi: 10.1056/NEJMoa1300253.

35.

Whole-exome sequencing studies of nonfunctioning pituitary adenomas.

Newey PJ, Nesbit MA, Rimmer AJ, Head RA, Gorvin CM, Attar M, Gregory L, Wass JA, Buck D, Karavitaki N, Grossman AB, McVean G, Ansorge O, Thakker RV.

J Clin Endocrinol Metab. 2013 Apr;98(4):E796-800. doi: 10.1210/jc.2012-4028. Epub 2013 Feb 28.

36.

GATA3 mutations found in breast cancers may be associated with aberrant nuclear localization, reduced transactivation and cell invasiveness.

Gaynor KU, Grigorieva IV, Allen MD, Esapa CT, Head RA, Gopinath P, Christie PT, Nesbit MA, Jones JL, Thakker RV.

Horm Cancer. 2013 Jun;4(3):123-39. doi: 10.1007/s12672-013-0138-x. Epub 2013 Feb 22.

PMID:
23435732
37.

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.

Nesbit MA, Hannan FM, Howles SA, Reed AA, Cranston T, Thakker CE, Gregory L, Rimmer AJ, Rust N, Graham U, Morrison PJ, Hunter SJ, Whyte MP, McVean G, Buck D, Thakker RV.

Nat Genet. 2013 Jan;45(1):93-7. doi: 10.1038/ng.2492. Epub 2012 Dec 9.

38.

Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas.

Newey PJ, Nesbit MA, Rimmer AJ, Attar M, Head RT, Christie PT, Gorvin CM, Stechman M, Gregory L, Mihai R, Sadler G, McVean G, Buck D, Thakker RV.

J Clin Endocrinol Metab. 2012 Oct;97(10):E1995-2005. doi: 10.1210/jc.2012-2303. Epub 2012 Aug 1.

39.

Di-μ-bromido-bis-[benz-yl(diethyl ether)magnesium].

Nesbit MA, Gray DL, Girolami GS.

Acta Crystallogr Sect E Struct Rep Online. 2012 Jul 1;68(Pt 7):m942. doi: 10.1107/S1600536812025445. Epub 2012 Jun 20.

40.

Synthesis and structural diversity of barium (N,N-dimethylamino)diboranates.

Daly SR, Bellott BJ, Nesbit MA, Girolami GS.

Inorg Chem. 2012 Jun 18;51(12):6449-59. doi: 10.1021/ic2016879. Epub 2012 Jun 5.

PMID:
22667984
41.

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.

Hannan FM, Nesbit MA, Zhang C, Cranston T, Curley AJ, Harding B, Fratter C, Rust N, Christie PT, Turner JJ, Lemos MC, Bowl MR, Bouillon R, Brain C, Bridges N, Burren C, Connell JM, Jung H, Marks E, McCredie D, Mughal Z, Rodda C, Tollefsen S, Brown EM, Yang JJ, Thakker RV.

Hum Mol Genet. 2012 Jun 15;21(12):2768-78. doi: 10.1093/hmg/dds105. Epub 2012 Mar 14.

PMID:
22422767
42.

A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation.

Esapa CT, Hough TA, Testori S, Head RA, Crane EA, Chan CP, Evans H, Bassett JH, Tylzanowski P, McNally EG, Carr AJ, Boyde A, Howell PG, Clark A, Williams GR, Brown MA, Croucher PI, Nesbit MA, Brown SD, Cox RD, Cheeseman MT, Thakker RV.

J Bone Miner Res. 2012 Feb;27(2):413-28. doi: 10.1002/jbmr.547.

43.

A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia.

Hannan FM, Nesbit MA, Christie PT, Lissens W, Van der Schueren B, Bex M, Bouillon R, Thakker RV.

Clin Endocrinol (Oxf). 2010 Dec;73(6):715-22. doi: 10.1111/j.1365-2265.2010.03870.x.

PMID:
20846291
44.

SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1.

Jeyabalan J, Nesbit MA, Galvanovskis J, Callaghan R, Rorsman P, Thakker RV.

PLoS One. 2010 May 14;5(5):e10646. doi: 10.1371/journal.pone.0010646.

45.

Gata3-deficient mice develop parathyroid abnormalities due to dysregulation of the parathyroid-specific transcription factor Gcm2.

Grigorieva IV, Mirczuk S, Gaynor KU, Nesbit MA, Grigorieva EF, Wei Q, Ali A, Fairclough RJ, Stacey JM, Stechman MJ, Mihai R, Kurek D, Fraser WD, Hough T, Condie BG, Manley N, Grosveld F, Thakker RV.

J Clin Invest. 2010 Jun;120(6):2144-55. doi: 10.1172/JCI42021. Epub 2010 May 17.

46.

A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.

Mirczuk SM, Bowl MR, Nesbit MA, Cranston T, Fratter C, Allgrove J, Brain C, Thakker RV.

J Clin Endocrinol Metab. 2010 Jul;95(7):3512-6. doi: 10.1210/jc.2009-2532. Epub 2010 May 12.

PMID:
20463099
47.

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

Bowl MR, Mirczuk SM, Grigorieva IV, Piret SE, Cranston T, Southam L, Allgrove J, Bahl S, Brain C, Loughlin J, Mughal Z, Ryan F, Shaw N, Thakker YV, Tiosano D, Nesbit MA, Thakker RV.

Hum Mol Genet. 2010 May 15;19(10):2028-38. doi: 10.1093/hmg/ddq084. Epub 2010 Feb 27.

PMID:
20190276
48.

Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3.

Nesbit MA, Hannan FM, Graham U, Whyte MP, Morrison PJ, Hunter SJ, Thakker RV.

J Clin Endocrinol Metab. 2010 Apr;95(4):1947-54. doi: 10.1210/jc.2009-2152. Epub 2010 Feb 4.

PMID:
20133464
49.

CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease.

Reed AA, Loh NY, Terryn S, Lippiat JD, Partridge C, Galvanovskis J, Williams SE, Jouret F, Wu FT, Courtoy PJ, Nesbit MA, Rorsman P, Devuyst O, Ashcroft FM, Thakker RV.

Am J Physiol Renal Physiol. 2010 Feb;298(2):F365-80. doi: 10.1152/ajprenal.00038.2009. Epub 2009 Nov 25.

50.

Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3.

Hannan FM, Nesbit MA, Turner JJ, Stacey JM, Cianferotti L, Christie PT, Conigrave AD, Whyte MP, Thakker RV.

Eur J Hum Genet. 2010 Apr;18(4):442-7. doi: 10.1038/ejhg.2009.161. Epub 2009 Oct 7.

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