Detalhe da pesquisa
1.
Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry.
BMC Musculoskelet Disord
; 20(1): 80, 2019 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30764793
2.
Distinct populations within Isl1 lineages contribute to appendicular and facial skeletogenesis through the ß-catenin pathway.
Dev Biol
; 387(1): 37-48, 2014 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24424161
3.
Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry.
Orphanet J Rare Dis
; 19(1): 109, 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459585
4.
Maternal diet supplementation with methyl donors and increased parity affect the incidence of craniofacial defects in the offspring of twisted gastrulation mutant mice.
J Nutr
; 143(3): 332-9, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23343680
5.
Growth and disease burden in children with hypophosphatasia.
Endocr Connect
; 12(5)2023 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36917043
6.
Clinical Profiles of Children with Hypophosphatasia Prior to Treatment with Enzyme Replacement Therapy: An Observational Analysis from the Global HPP Registry.
Horm Res Paediatr
; 2023 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37442110
7.
The molecular and cellular basis of variable craniofacial phenotypes and their genetic rescue in Twisted gastrulation mutant mice.
Dev Biol
; 355(1): 21-31, 2011 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21549111
8.
Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry.
Orphanet J Rare Dis
; 17(1): 277, 2022 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35854311
9.
Twisted gastrulation limits apoptosis in the distal region of the mandibular arch in mice.
Dev Biol
; 328(1): 13-23, 2009 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19389368
10.
Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review.
Orphanet J Rare Dis
; 14(1): 85, 2019 04 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31023354
11.
Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group.
J Clin Endocrinol Metab
; 102(9): 3111-3123, 2017 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28655174
12.
Embryonic salivary gland dysmorphogenesis in Twisted gastrulation deficient mice.
Arch Oral Biol
; 51(5): 433-8, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16289463
13.
Autosomal dominant mesomandibular fibro-osseous dysplasia: a self-resolving inherited fibro-osseous lesion of the jaws.
Front Physiol
; 3: 458, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23230423
14.
Adoption as an intervention for institutionally reared children: HPA functioning and developmental status.
Infant Behav Dev
; 35(4): 829-37, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22986178
15.
Glycosylation of Twisted Gastrulation is Required for BMP Binding and Activity during Craniofacial Development.
Front Physiol
; 2: 59, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21941513
16.
The mammalian twisted gastrulation gene functions in foregut and craniofacial development.
Dev Biol
; 267(2): 374-86, 2004 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15013800