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Results: 1 to 20 of 106

1.

A novel nonsense mutation in the DMP1 gene identified by a genome-wide association study is responsible for inherited rickets in Corriedale sheep.

Zhao X, Dittmer KE, Blair HT, Thompson KG, Rothschild MF, Garrick DJ.

PLoS One. 2011;6(7):e21739. doi: 10.1371/journal.pone.0021739. Epub 2011 Jul 1.

PMID:
21747952
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

In a shake of a lamb's tail: using genomics to unravel a cause of chondrodysplasia in Texel sheep.

Zhao X, Onteru SK, Piripi S, Thompson KG, Blair HT, Garrick DJ, Rothschild MF.

Anim Genet. 2012 Jul;43 Suppl 1:9-18. doi: 10.1111/j.1365-2052.2011.02304.x.

PMID:
22742499
[PubMed - indexed for MEDLINE]
3.

A novel nonsense mutation in the DMP1 gene in a Japanese family with autosomal recessive hypophosphatemic rickets.

Koshida R, Yamaguchi H, Yamasaki K, Tsuchimochi W, Yonekawa T, Nakazato M.

J Bone Miner Metab. 2010 Sep;28(5):585-90. doi: 10.1007/s00774-010-0169-0. Epub 2010 Mar 9.

PMID:
20213538
[PubMed - indexed for MEDLINE]
4.

Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.

Ruppe MD, Brosnan PG, Au KS, Tran PX, Dominguez BW, Northrup H.

Clin Endocrinol (Oxf). 2011 Mar;74(3):312-8. doi: 10.1111/j.1365-2265.2010.03919.x.

PMID:
21050253
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism.

Feng JQ, Ward LM, Liu S, Lu Y, Xie Y, Yuan B, Yu X, Rauch F, Davis SI, Zhang S, Rios H, Drezner MK, Quarles LD, Bonewald LF, White KE.

Nat Genet. 2006 Nov;38(11):1310-5. Epub 2006 Oct 8.

PMID:
17033621
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

A missense mutation in AGTPBP1 was identified in sheep with a lower motor neuron disease.

Zhao X, Onteru SK, Dittmer KE, Parton K, Blair HT, Rothschild MF, Garrick DJ.

Heredity (Edinb). 2012 Sep;109(3):156-62. doi: 10.1038/hdy.2012.23. Epub 2012 May 16.

PMID:
22588130
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets.

Farrow EG, Davis SI, Ward LM, Summers LJ, Bubbear JS, Keen R, Stamp TC, Baker LR, Bonewald LF, White KE.

Bone. 2009 Feb;44(2):287-94. doi: 10.1016/j.bone.2008.10.040. Epub 2008 Oct 25.

PMID:
19007919
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep.

Suárez-Vega A, Gutiérrez-Gil B, Cuchillo-Ibáñez I, Sáez-Valero J, Pérez V, García-Gámez E, Benavides J, Arranz JJ.

PLoS One. 2013 Nov 19;8(11):e81072. doi: 10.1371/journal.pone.0081072. eCollection 2013.

PMID:
24260534
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

A patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene.

Saito T, Shimizu Y, Hori M, Taguchi M, Igarashi T, Fukumoto S, Fujitab T.

Bone. 2011 Oct;49(4):913-6. doi: 10.1016/j.bone.2011.06.029. Epub 2011 Jul 2.

PMID:
21745613
[PubMed - indexed for MEDLINE]
10.

Pathology of inherited rickets in Corriedale sheep.

Dittmer KE, Thompson KG, Blair HT.

J Comp Pathol. 2009 Aug-Oct;141(2-3):147-55. doi: 10.1016/j.jcpa.2009.04.005. Epub 2009 Jun 12.

PMID:
19524252
[PubMed - indexed for MEDLINE]
11.

Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation.

Mäkitie O, Pereira RC, Kaitila I, Turan S, Bastepe M, Laine T, Kröger H, Cole WG, Jüppner H.

J Bone Miner Res. 2010 Oct;25(10):2165-74. doi: 10.1002/jbmr.105.

PMID:
20499351
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets.

Beck-Nielsen SS, Brixen K, Gram J, Brusgaard K.

J Hum Genet. 2012 Jul;57(7):453-8. doi: 10.1038/jhg.2012.56. Epub 2012 Jun 14.

PMID:
22695891
[PubMed - indexed for MEDLINE]
13.

Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.

Turan S, Aydin C, Bereket A, Akcay T, Güran T, Yaralioglu BA, Bastepe M, Jüppner H.

Bone. 2010 Feb;46(2):402-9. doi: 10.1016/j.bone.2009.09.016. Epub 2009 Sep 29.

PMID:
19796717
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

The role of DMP1 in autosomal recessive hypophosphatemic rickets.

Farrow EG, Davis SI, Ward LM, White KE.

J Musculoskelet Neuronal Interact. 2007 Oct-Dec;7(4):310-2. No abstract available.

PMID:
18094488
[PubMed - indexed for MEDLINE]
Free Article
15.

Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa.

Huang Y, Zhang J, Li C, Yang G, Liu M, Wang QK, Tang Z.

BMC Med Genet. 2010 Aug 10;11:121. doi: 10.1186/1471-2350-11-121.

PMID:
20696082
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.

Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H.

Am J Hum Genet. 2006 Feb;78(2):179-92. Epub 2005 Dec 9.

PMID:
16358214
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.

Levy-Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa-Caspi V, Manor E, Buriakovsky S, Hadad Y, Goding J, Parvari R.

Am J Hum Genet. 2010 Feb 12;86(2):273-8. doi: 10.1016/j.ajhg.2010.01.010. Epub 2010 Feb 4.

PMID:
20137772
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Generation of a conditional null allele for Dmp1 in mouse.

Feng JQ, Scott G, Guo D, Jiang B, Harris M, Ward T, Ray M, Bonewald LF, Harris SE, Mishina Y.

Genesis. 2008 Feb;46(2):87-91. doi: 10.1002/dvg.20370.

PMID:
18257058
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

DMP1 C-terminal mutant mice recapture the human ARHR tooth phenotype.

Jiang B, Cao Z, Lu Y, Janik C, Lauziere S, Xie Y, Poliard A, Qin C, Ward LM, Feng JQ.

J Bone Miner Res. 2010 Oct;25(10):2155-64. doi: 10.1002/jbmr.117.

PMID:
20499360
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Familial hypophosphatemic rickets caused by a large deletion in PHEX gene.

Saito T, Nishii Y, Yasuda T, Ito N, Suzuki H, Igarashi T, Fukumoto S, Fujita T.

Eur J Endocrinol. 2009 Oct;161(4):647-51. doi: 10.1530/EJE-09-0261. Epub 2009 Jul 6.

PMID:
19581284
[PubMed - indexed for MEDLINE]
Free Article

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