Detalhe da pesquisa
1.
Utility of genetic testing for prenatal presentations of hypophosphatasia.
Mol Genet Metab
; 132(3): 198-203, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33549410
2.
Genetic analysis of adults heterozygous for ALPL mutations.
J Bone Miner Metab
; 36(6): 723-733, 2018 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-29236161
3.
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.
Mol Genet Metab
; 116(3): 215-20, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26432670
4.
A molecular-based estimation of the prevalence of hypophosphatasia in the European population.
Ann Hum Genet
; 75(3): 439-45, 2011 May.
Artigo
Inglês
| MEDLINE | ID: mdl-21488855
5.
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.
Eur J Hum Genet
; 29(2): 289-299, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32973344
6.
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
; 10: 51, 2009 Jun 06.
Artigo
Inglês
| MEDLINE | ID: mdl-19500388
7.
Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia.
Eur J Med Genet
; 50(5): 367-78, 2007.
Artigo
Inglês
| MEDLINE | ID: mdl-17719863
8.
Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments.
Genet Test
; 10(4): 252-7, 2006.
Artigo
Inglês
| MEDLINE | ID: mdl-17253930
9.
Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients.
Eur J Hum Genet
; 10(10): 666-8, 2002 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-12357339
10.
Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling.
Prenat Diagn
; 28(11): 993-8, 2008 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-18925618
11.
Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations.
Mol Genet Metab
; 84(3): 273-7, 2005 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-15694177
12.
Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France.
Am J Med Genet A
; 129A(3): 218-24, 2004 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-15326620