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.
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.
Prenat Diagn
; 39(6): 464-470, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30896039
3.
Genetic analysis of adults heterozygous for ALPL mutations.
J Bone Miner Metab
; 36(6): 723-733, 2018 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-29236161
4.
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
5.
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.
J Med Genet
; 50(4): 220-7, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23378603
6.
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
7.
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
8.
Amniotic fluid digestive enzyme analysis is useful for identifying CFTR gene mutations of unclear significance.
Clin Chem
; 55(12): 2214-7, 2009 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-19833837
9.
[Sounding board. First trimester Down syndrome screening in France]. / Dépistage de la trisomie 21. Mise en place du dépistage combiné au premier trimestre de la grossesse.
Rev Prat
; 62(10): 1340-4, 2012 Dec.
Artigo
Francês
| MEDLINE | ID: mdl-23424907
10.
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
11.
Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients.
J Neuromuscul Dis
; 3(4): 487-495, 2016 11 29.
Artigo
Inglês
| MEDLINE | ID: mdl-27911332
12.
Association between genetically determined pancreatic status and lung disease in adult cystic fibrosis patients.
Chest
; 121(1): 73-80, 2002 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-11796434
13.
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
14.
Sperm chromosome analysis in two cases of paracentric inversion.
Fertil Steril
; 87(2): 418.e1-5, 2007 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-17126336
15.
Fetal anal incontinence evaluated by amniotic fluid digestive enzyme assay in myelomeningocele spina bifida.
Pediatr Res
; 58(4): 766-70, 2005 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-16189207
16.
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
Am J Hum Genet
; 76(3): 493-504, 2005 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-15666242
17.
Hyperechogenic fetal bowel and Down syndrome. Results of a French collaborative study based on 680 prospective cases.
Prenat Diagn
; 22(3): 189-92, 2002 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-11920891
18.
Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases.
Ann Genet
; 47(3): 241-9, 2004.
Artigo
Inglês
| MEDLINE | ID: mdl-15337469
19.
How can the genetic risks of embryo donation be minimized? Proposed guidelines of the French Federation of CECOS (Centre d'Etude et de Conservation des Oeufs et du Sperme).
Hum Reprod
; 19(8): 1685-8, 2004 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-15192062
20.
Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different.
Am J Med Genet A
; 126A(2): 123-8, 2004 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-15057976