-
1
-
-
0032589092
-
Correlations of genotype and phenotype in hypophosphatasia
-
Zurutuza L, Muller F, Gibrat JF et al: Correlations of genotype and phenotype in hypophosphatasia. Hum Mol Genet 1999; 8: 1039-1046.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1039-1046
-
-
Zurutuza, L.1
Muller, F.2
Gibrat, J.F.3
-
2
-
-
0034335426
-
361Val mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme
-
DOI 10.1210/jc.85.2.743
-
Muller HL, Yamazaki M, Michigami T et al: Asp361Val mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme. J Clin Endocrinol Metab 2000; 85: 743-747. (Pubitemid 32273663)
-
(2000)
Journal of Clinical Endocrinology and Metabolism
, vol.85
, Issue.2
, pp. 743-747
-
-
Muller, H.L.1
Yamazaki, M.2
Michigami, T.3
Kageyama, T.4
Schonau, E.5
Schneider, P.6
Ozono, K.7
-
3
-
-
17844390642
-
A molecular approach to dominance in hypophosphatasia
-
DOI 10.1007/s004390100546
-
Lia-Baldini AS, Muller F, Taillandier A et al: A molecular approach to dominance in hypophosphatasia. Hum Genet 2001; 109: 99-108. (Pubitemid 32743199)
-
(2001)
Human Genetics
, vol.109
, Issue.1
, pp. 99-108
-
-
Lia-Baldini, A.S.1
Muller, F.2
Taillandier, A.3
Gibrat, J.F.4
Mouchard, M.5
Robin, B.6
Simon-Bouy, B.7
Serre, J.L.8
Aylsworth, A.S.9
Bieth, E.10
Delanote, S.11
Freisinger, P.12
Hu, J.C.-C.13
Krohn, H.-P.14
Nunes, M.E.15
Mornet, E.16
-
4
-
-
42149118918
-
A new mechanism of dominance in hypophosphatasia: The mutated protein can disturb the cell localization of the wild-type protein
-
Lia-Baldini AS, Brun-Heath I, Carrion C et al: A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein. Hum Genet 2008; 123: 429-432.
-
(2008)
Hum Genet
, vol.123
, pp. 429-432
-
-
Lia-Baldini, A.S.1
Brun-Heath, I.2
Carrion, C.3
-
5
-
-
67649868096
-
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 et al: Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. BMC Med Genet 2009; 10: 51.
-
(2009)
BMC Med Genet
, vol.10
, pp. 51
-
-
Fauvert, D.1
Brun-Heath, I.2
Lia-Baldini, A.S.3
-
6
-
-
0018718890
-
Adult hypophosphatasia. Clinical, laboratory and genetic investigation of a large kindred with review of the literature
-
Whyte MP, Teitelbaum SL, Murphy WA, Bergfeld MA, Avioli LV: Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature. Medicine (Baltimore) 1979; 58: 329-347. (Pubitemid 10234877)
-
(1979)
Medicine
, vol.58
, Issue.5
, pp. 329-347
-
-
Whyte, M.P.1
Teitelbaum, S.L.2
Murphy, W.A.3
-
7
-
-
0021079828
-
Clinical, laboratory, and genetic investigations of hypophosphatasia: Support for autosomal dominant inheritance with homozygous lethality
-
Eastman JR, Bixler D: Clinical, laboratory, and genetic investigations of hypopho-sphatasia: support for autosomal dominant inheritance with homozygous lethality. J Craniofac Genet Dev Biol 1983; 3: 213-234. (Pubitemid 14242045)
-
(1983)
Journal of Craniofacial Genetics and Developmental Biology
, vol.3
, Issue.3
, pp. 213-234
-
-
Eastman, J.R.1
Bixler, D.2
-
8
-
-
0021257603
-
Adult hypophosphatasia without apparent skeletal disease: 'Odontohypophosphatasia' in four heterozygote members of a family
-
Eberle F, Hartenfels S, Pralle H, Kabisch A: Adult hypophosphatasia without apparent skeletal disease: 'odontohypophosphatasia' in four heterozygote members of a family. Klin Wochenschr 1984; 62: 371-376. (Pubitemid 14102247)
-
(1984)
Klinische Wochenschrift
, vol.62
, Issue.8
, pp. 371-376
-
-
Eberle, F.1
Hartenfels, S.2
Pralle, H.3
Kabisch, A.4
-
9
-
-
33846697337
-
Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments
-
DOI 10.1089/gte.2006.10.252
-
Spentchian M, Brun-Heath I, Taillandier A et al: Characterization of missense mutations and LARGE deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments. Genet Test 2006; 10: 252-257. (Pubitemid 46193275)
-
(2006)
Genetic Testing
, vol.10
, Issue.4
, pp. 252-257
-
-
Spentchian, M.1
Brun-Heath, I.2
Taillandier, A.3
Fauvert, D.4
Serre, J.-L.5
Simon-Bouy, B.6
Carvalho, F.7
Grochova, I.8
Mehta, S.G.9
Muller, G.10
Oberstein, S.L.11
Ogur, G.12
Sharif, S.13
Mornet, E.14
-
10
-
-
0001206301
-
Hypophosphatasia
-
Fraser D: Hypophosphatasia. Am J Med 1957; 22: 730-746.
-
(1957)
Am J Med
, vol.22
, pp. 730-746
-
-
Fraser, D.1
-
11
-
-
0025181430
-
Infantile hypophosphatasia: Localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers
-
Greenberg CR, Evans JA, McKendry-Smith S et al: Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers. Am J Hum Genet 1990; 46: 286-292.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 286-292
-
-
Greenberg, C.R.1
Evans, J.A.2
McKendry-Smith, S.3
-
12
-
-
0033615462
-
Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: Bent but not broken
-
DOI 10.1002/(SICI)1096-8628(19 991029)86:5<434::AID-AJMG8>3.0.CO;2- C
-
Pauli RM, Modaff P, Sipes SL, Whyte MP: Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken. Am J Med Genet 1999; 86: 434-438. (Pubitemid 29503196)
-
(1999)
American Journal of Medical Genetics
, vol.86
, Issue.5
, pp. 434-438
-
-
Pauli, R.M.1
Modaff, P.2
Sipes, S.L.3
Whyte, M.P.4
-
13
-
-
0033615461
-
Mild autosomal dominant hypophosphatasia: In utero presentation in two families
-
DOI 10.1002/(SICI)1096-8628(19 991029)86:5<410::AID-AJMG3>3.0.CO;2- 0
-
Moore CA, Curry CJ, Henthorn PS et al: Mild autosomal dominant hypophosphatasia: in utero presentation in two families. Am J Med Genet 1999; 86: 410-415. (Pubitemid 29503191)
-
(1999)
American Journal of Medical Genetics
, vol.86
, Issue.5
, pp. 410-415
-
-
Moore, C.A.1
Curry, C.J.R.2
Henthorn, P.S.3
Smith, J.A.4
Smith, J.C.5
O'Lague, P.6
Coburn, S.P.7
Weaver, D.D.8
Whyte, M.P.9
-
14
-
-
62149124063
-
Orodental phenotype and genotype findings in all subtypes of hypophosphatasia
-
Reibel A, Maniere MC, Clauss F et al: Orodental phenotype and genotype findings in all subtypes of hypophosphatasia. Orphanet J Rare Dis 2009; 4: 6.
-
(2009)
Orphanet J Rare Dis
, vol.4
, pp. 6
-
-
Reibel, A.1
Maniere, M.C.2
Clauss, F.3
-
15
-
-
0033892896
-
Infantile hypophosphatasia: Disappointing results of treatment
-
Deeb AA, Bruce SN, Morris AA, Cheetham TD: Infantile hypophosphatasia: disappointing results of treatment. Acta Paediatr 2000; 89: 730-733. (Pubitemid 30624922)
-
(2000)
Acta Paediatrica, International Journal of Paediatrics
, vol.89
, Issue.6
, pp. 730-733
-
-
Deeb, A.A.1
Bruce, S.N.2
Morris, A.A.M.3
Cheetham, T.D.4
-
16
-
-
34147099203
-
Adult hypophosphatasia treated with teriparatide
-
Whyte MP, Mumm S, Deal C: Adult hypophosphatasia treated with teriparatide. J Clin Endocrinol Metab 2007; 92: 1203-1208.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 1203-1208
-
-
Whyte, M.P.1
Mumm, S.2
Deal, C.3
-
17
-
-
45849148915
-
Treatment of adult hypophosphatasia with teriparatide
-
Camacho PM, Painter S, Kadanoff R: Treatment of adult hypophosphatasia with teriparatide. Endocr Pract 2008; 14: 204-208.
-
(2008)
Endocr Pract
, vol.14
, pp. 204-208
-
-
Camacho, P.M.1
Painter, S.2
Kadanoff, R.3
-
18
-
-
77749267713
-
Lack of sustained response to teriparatide in a patient with adult hypophosphatasia
-
Gagnon C, Sims NA, Mumm S et al: Lack of sustained response to teriparatide in a patient with adult hypophosphatasia. J Clin Endocrinol Metab 2010; 95: 1007-1012.
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 1007-1012
-
-
Gagnon, C.1
Sims, N.A.2
Mumm, S.3
-
19
-
-
0032836399
-
Treatment of childhood hypophosphatasia with nonsteroidal antiinflammatory drugs
-
DOI 10.1016/S8756-3282(99)00203-3, PII S8756328299002033
-
Girschick HJ, Seyberth HW, Huppertz HI: Treatment of childhood hypophosphatasia with nonsteroidal antiinflammatory drugs. Bone 1999; 25: 603-607. (Pubitemid 29469468)
-
(1999)
Bone
, vol.25
, Issue.5
, pp. 603-607
-
-
Girschick, H.J.1
Seyberth, H.W.2
Huppertz, H.I.3
-
20
-
-
33846943140
-
Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia
-
Girschick HJ, Schneider P, Haubitz I et al: Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia. Orphanet J Rare Dis 2006; 1: 24.
-
(2006)
Orphanet J Rare Dis
, vol.1
, pp. 24
-
-
Girschick, H.J.1
Schneider, P.2
Haubitz, I.3
-
21
-
-
44449145465
-
Enzyme replacement therapy for murine hypophosphatasia
-
DOI 10.1359/jbmr.071213
-
Millan JL, Narisawa S, Lemire I et al: Enzyme replacement therapy for murine hypophosphatasia. J Bone Miner Res 2008; 23: 777-787. (Pubitemid 351768796)
-
(2008)
Journal of Bone and Mineral Research
, vol.23
, Issue.6
, pp. 777-787
-
-
Millan, J.L.1
Narisawa, S.2
Lemire, I.3
Loisel, T.P.4
Boileau, G.5
Leonard, P.6
Gramatikova, S.7
Terkeltaub, R.8
Camacho, N.P.9
McKee, M.D.10
Crine, P.11
Whyte, M.P.12
-
22
-
-
34248191819
-
Long-term follow-up of bone mineral density in childhood hypophosphatasia
-
DOI 10.1016/j.jbspin.2006.06.017, PII S1297319X07001066
-
Girschick HJ, Haubitz I, Hiort O, Schneider P: Long-term follow-up of bone mineral density in childhood hypophosphatasia. Joint Bone Spine 2007a; 74: 263-269. (Pubitemid 46720051)
-
(2007)
Joint Bone Spine
, vol.74
, Issue.3
, pp. 263-269
-
-
Girschick, H.J.1
Haubitz, I.2
Hiort, O.3
Schneider, P.4
-
23
-
-
33847002736
-
Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy
-
Girschick HJ, Mornet E, Beer M, Warmuth-Metz M, Schneider P: Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy. BMC Pediatr 2007b; 7: 3.
-
(2007)
BMC Pediatr
, vol.7
, pp. 3
-
-
Girschick, H.J.1
Mornet, E.2
Beer, M.3
Warmuth-Metz, M.4
Schneider, P.5
-
24
-
-
58049164921
-
Neurosurgical aspects of childhood hypophosphatasia
-
Collmann H, Mornet E, Gattenlohner S, Beck C, Girschick H: Neurosurgical aspects of childhood hypophosphatasia. Childs Nerv Syst 2009; 25: 217-223.
-
(2009)
Childs Nerv Syst
, vol.25
, pp. 217-223
-
-
Collmann, H.1
Mornet, E.2
Gattenlohner, S.3
Beck, C.4
Girschick, H.5
-
25
-
-
65649149820
-
Prosthodontic rehabilitation of hypophosphatasia using dental implants: A review of the literature andtwo case reports
-
Lynch CD, Ziada HM, Buckley LA, O'Sullivan VR, Aherne T, Aherne S: Prosthodontic rehabilitation of hypophosphatasia using dental implants: a review of the literature andtwo case reports. J Oral Rehabil 2009; 36: 462-468.
-
(2009)
J Oral Rehabil
, vol.36
, pp. 462-468
-
-
Lynch, C.D.1
Ziada, H.M.2
Buckley, L.A.3
O'Sullivan, V.R.4
Aherne, T.5
Aherne, S.6
-
26
-
-
0027930471
-
Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization
-
DOI 10.1210/er.15.4.439
-
Whyte MP: Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr Rev 1994; 15: 439-461. (Pubitemid 24271239)
-
(1994)
Endocrine Reviews
, vol.15
, Issue.4
, pp. 439-461
-
-
Whyte, M.P.1
-
27
-
-
51649107375
-
Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement
-
Stevenson DA, Carey JC, Coburn SP et al: Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement. J Clin Endocrinol Metab 2008; 93: 3443-3448.
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 3443-3448
-
-
Stevenson, D.A.1
Carey, J.C.2
Coburn, S.P.3
-
28
-
-
33947359503
-
Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images
-
DOI 10.1002/pd.1648
-
Sinico M, Levaillant JM, Vergnaud A et al: M Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images. Prenat Diagn 2007; 27: 222-227. (Pubitemid 46450579)
-
(2007)
Prenatal Diagnosis
, vol.27
, Issue.3
, pp. 222-227
-
-
Sinico, M.1
Levaillant, J.M.2
Vergnaud, A.3
Blondeau, J.R.4
Encha-Razavi, F.5
Mornet, E.6
Le Merrer, M.7
Gerard-Blanluet, M.8
|