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Results: 1 to 20 of 132

1.

Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia.

Hofmann C, Liese J, Schwarz T, Kunzmann S, Wirbelauer J, Nowak J, Hamann J, Girschick H, Graser S, Dietz K, Zeck S, Jakob F, Mentrup B.

Bone. 2013 Jul;55(1):150-7. doi: 10.1016/j.bone.2013.02.017. Epub 2013 Feb 27.

PMID:
23454488
[PubMed - indexed for MEDLINE]
2.

Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia.

Chang KC, Lin PH, Su YN, Peng SS, Lee NC, Chou HC, Chen CY, Hsieh WS, Tsao PN.

J Bone Miner Metab. 2012 Jan;30(1):109-13. doi: 10.1007/s00774-011-0282-8. Epub 2011 Jun 4.

PMID:
21638016
[PubMed - indexed for MEDLINE]
3.

Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene.

Baumgartner-Sigl S, Haberlandt E, Mumm S, Scholl-Bürgi S, Sergi C, Ryan L, Ericson KL, Whyte MP, Högler W.

Bone. 2007 Jun;40(6):1655-61. Epub 2007 Feb 14.

PMID:
17395561
[PubMed - indexed for MEDLINE]
4.

Clinical and genetic aspects of hypophosphatasia in Japanese patients.

Taketani T, Onigata K, Kobayashi H, Mushimoto Y, Fukuda S, Yamaguchi S.

Arch Dis Child. 2014 Mar;99(3):211-5. doi: 10.1136/archdischild-2013-305037. Epub 2013 Nov 25.

PMID:
24276437
[PubMed - indexed for MEDLINE]
5.

A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene.

Brun-Heath I, Chabrol E, Fox M, Drexler K, Petit C, Taillandier A, De Mazancourt P, Serre JL, Mornet E.

Clin Genet. 2008 Mar;73(3):245-50. Epub 2007 Oct 7.

PMID:
17922851
[PubMed - indexed for MEDLINE]
6.

Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype.

Martins L, Rodrigues TL, Ribeiro MM, Saito MT, Giorgetti AP, Casati MZ, Sallum EA, Foster BL, Somerman MJ, Nociti FH Jr.

Bone. 2013 Oct;56(2):390-7. doi: 10.1016/j.bone.2013.06.010. Epub 2013 Jun 19.

PMID:
23791648
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report.

Demirbilek H, Alanay Y, Alikaşifoğlu A, Topçu M, Mornet E, Gönç N, Özön A, Kandemir N.

J Clin Res Pediatr Endocrinol. 2012 Mar;4(1):34-8. doi: 10.4274/jcrpe.473.

PMID:
22394703
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Perinatal hypophosphatasia caused by uniparental isodisomy.

Watanabe A, Satoh S, Fujita A, Naing BT, Orimo H, Shimada T.

Bone. 2014 Mar;60:93-7. doi: 10.1016/j.bone.2013.12.009. Epub 2013 Dec 12.

PMID:
24334170
[PubMed - indexed for MEDLINE]
9.

Functional characterization of a novel mutation localized in the start codon of the tissue-nonspecific alkaline phosphatase gene.

Mentrup B, Marschall C, Barvencik F, Amling M, Plendl H, Jakob F, Beck C.

Bone. 2011 Jun 1;48(6):1401-8. doi: 10.1016/j.bone.2011.03.676. Epub 2011 Mar 16.

PMID:
21419245
[PubMed - indexed for MEDLINE]
10.

Hypophosphatasia.

Mornet E.

Orphanet J Rare Dis. 2007 Oct 4;2:40. Review.

PMID:
17916236
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers.

Watanabe A, Karasugi T, Sawai H, Naing BT, Ikegawa S, Orimo H, Shimada T.

J Hum Genet. 2011 Feb;56(2):166-8. doi: 10.1038/jhg.2010.161. Epub 2010 Dec 23.

PMID:
21179104
[PubMed - indexed for MEDLINE]
12.

Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.

Spentchian M, Merrien Y, Herasse M, Dobbie Z, Gläser D, Holder SE, Ivarsson SA, Kostiner D, Mansour S, Norman A, Roth J, Stipoljev F, Taillemite JL, van der Smagt JJ, Serre JL, Simon-Bouy B, Taillandier A, Mornet E.

Hum Mutat. 2003 Jul;22(1):105-6.

PMID:
12815606
[PubMed - indexed for MEDLINE]
13.

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.

Fauvert D, Brun-Heath I, Lia-Baldini AS, Bellazi L, Taillandier A, Serre JL, de Mazancourt P, Mornet E.

BMC Med Genet. 2009 Jun 6;10:51. doi: 10.1186/1471-2350-10-51.

PMID:
19500388
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.

Taillandier A, Lia-Baldini AS, Mouchard M, Robin B, Muller F, Simon-Bouy B, Serre JL, Bera-Louville A, Bonduelle M, Eckhardt J, Gaillard D, Myhre AG, Körtge-Jung S, Larget-Piet L, Malou E, Sillence D, Temple IK, Viot G, Mornet E.

Hum Mutat. 2001;18(1):83-4.

PMID:
11438998
[PubMed - indexed for MEDLINE]
15.

Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene.

Sawai H, Kanazawa N, Tsukahara Y, Koike K, Udagawa H, Koyama K, Mornet E.

Prenat Diagn. 2003 Sep;23(9):743-6.

PMID:
12975786
[PubMed - indexed for MEDLINE]
16.

Multisystemic functions of alkaline phosphatases.

Buchet R, Millán JL, Magne D.

Methods Mol Biol. 2013;1053:27-51. doi: 10.1007/978-1-62703-562-0_3. Review.

PMID:
23860646
[PubMed - indexed for MEDLINE]
17.

[Tissue-nonspecific alkaline phosphatase and hypophosphatasia].

Oda K, Kinjoh NN, Sohda M, Komaru K, Amizuka N.

Clin Calcium. 2014 Feb;24(2):233-9. doi: CliCa1402233239. Review. Japanese.

PMID:
24473356
[PubMed - indexed for MEDLINE]
18.

Identification of the mutations in the tissue-nonspecific alkaline phosphatase gene in two Chinese families with hypophosphatasia.

Zhang H, Ke YH, Wang C, Yue H, Hu WW, Gu JM, Zhang ZL.

Arch Med Res. 2012 Jan;43(1):21-30. doi: 10.1016/j.arcmed.2012.01.004. Epub 2012 Jan 31.

PMID:
22300680
[PubMed - indexed for MEDLINE]
19.

Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene.

Taillandier A, Sallinen SL, Brun-Heath I, De Mazancourt P, Serre JL, Mornet E.

J Clin Endocrinol Metab. 2005 Apr;90(4):2436-9. Epub 2005 Jan 25.

PMID:
15671102
[PubMed - indexed for MEDLINE]
20.

Novel mouse model of autosomal semidominant adult hypophosphatasia has a splice site mutation in the tissue nonspecific alkaline phosphatase gene Akp2.

Hough TA, Polewski M, Johnson K, Cheeseman M, Nolan PM, Vizor L, Rastan S, Boyde A, Pritzker K, Hunter AJ, Fisher EM, Terkeltaub R, Brown SD.

J Bone Miner Res. 2007 Sep;22(9):1397-407.

PMID:
17539739
[PubMed - indexed for MEDLINE]
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