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Results: 1 to 20 of 37

PubMed Links for Books (Select 1483038)

1.

Clinical utility gene card for: hypophosphatasia - update 2013.

Mornet E, Hofmann C, Bloch-Zupan A, Girschick H, Le Merrer M.

Eur J Hum Genet. 2014 Apr;22(4). doi: 10.1038/ejhg.2013.177. Epub 2013 Aug 7. No abstract available.

2.

Lack of sustained response to teriparatide in a patient with adult hypophosphatasia.

Gagnon C, Sims NA, Mumm S, McAuley SA, Jung C, Poulton IJ, Ng KW, Ebeling PR.

J Clin Endocrinol Metab. 2010 Mar;95(3):1007-12. doi: 10.1210/jc.2009-1965. Epub 2010 Jan 20.

PMID:
20089612
3.

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.

4.

Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia.

Whyte MP.

J Bone Miner Res. 2009 Jun;24(6):1132-4. doi: 10.1359/jbmr.081253.

PMID:
19113923
5.

Treatment of adult hypophosphatasia with teriparatide.

Camacho PM, Painter S, Kadanoff R.

Endocr Pract. 2008 Mar;14(2):204-8.

PMID:
18308659
6.

Enzyme replacement therapy for murine hypophosphatasia.

Millán JL, Narisawa S, Lemire I, Loisel TP, Boileau G, Leonard P, Gramatikova S, Terkeltaub R, Camacho NP, McKee MD, Crine P, Whyte MP.

J Bone Miner Res. 2008 Jun;23(6):777-87.

7.

Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia.

Brun-Heath I, Lia-Baldini AS, Maillard S, Taillandier A, Utsch B, Nunes ME, Serre JL, Mornet E.

Eur J Med Genet. 2007 Sep-Oct;50(5):367-78. Epub 2007 Jul 21.

PMID:
17719863
8.

Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts.

Cahill RA, Wenkert D, Perlman SA, Steele A, Coburn SP, McAlister WH, Mumm S, Whyte MP.

J Clin Endocrinol Metab. 2007 Aug;92(8):2923-30. Epub 2007 May 22.

PMID:
17519318
9.

Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments.

Spentchian M, Brun-Heath I, Taillandier A, Fauvert D, Serre JL, Simon-Bouy B, Carvalho F, Grochova I, Mehta SG, Müller G, Oberstein SL, Ogur G, Sharif S, Mornet E.

Genet Test. 2006 Winter;10(4):252-7.

PMID:
17253930
10.

Adult hypophosphatasia treated with teriparatide.

Whyte MP, Mumm S, Deal C.

J Clin Endocrinol Metab. 2007 Apr;92(4):1203-8. Epub 2007 Jan 9.

PMID:
17213282
11.
12.

Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis.

Mumm S, Wenkert D, Zhang X, McAlister WH, Mier RJ, Whyte MP.

J Bone Miner Res. 2007 Feb;22(2):243-50.

PMID:
17087626
13.

Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia.

Girschick HJ, Schneider P, Haubitz I, Hiort O, Collmann H, Beer M, Shin YS, Seyberth HW.

Orphanet J Rare Dis. 2006 Jun 28;1:24.

14.

Functional analysis of the single nucleotide polymorphism (787T>C) in the tissue-nonspecific alkaline phosphatase gene associated with BMD.

Goseki-Sone M, Sogabe N, Fukushi-Irie M, Mizoi L, Orimo H, Suzuki T, Nakamura H, Orimo H, Hosoi T.

J Bone Miner Res. 2005 May;20(5):773-82. Epub 2004 Dec 20.

PMID:
15824850
15.

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
16.

Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia.

Michigami T, Uchihashi T, Suzuki A, Tachikawa K, Nakajima S, Ozono K.

Eur J Pediatr. 2005 May;164(5):277-82. Epub 2005 Jan 20.

PMID:
15660230
17.

Hypophosphatasia.

FRASER D.

Am J Med. 1957 May;22(5):730-46. No abstract available.

PMID:
13410963
18.

Marrow cell transplantation for infantile hypophosphatasia.

Whyte MP, Kurtzberg J, McAlister WH, Mumm S, Podgornik MN, Coburn SP, Ryan LM, Miller CR, Gottesman GS, Smith AK, Douville J, Waters-Pick B, Armstrong RD, Martin PL.

J Bone Miner Res. 2003 Apr;18(4):624-36.

PMID:
12674323
19.

Function of mutant (G1144A) tissue-nonspecific ALP gene from hypophosphatasia.

Watanabe H, Goseki-Sone M, Orimo H, Hamatani R, Takinami H, Ishikawa I.

J Bone Miner Res. 2002 Nov;17(11):1945-8.

PMID:
12412800
20.
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