Detalhe da pesquisa
1.
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.
Brain
; 145(11): 3770-3775, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35883251
2.
A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis.
Fetal Diagn Ther
; 45(6): 403-412, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30121677
3.
Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal control.
Clin Chem Lab Med
; 53(2): 205-15, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25274949
4.
Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene.
Hum Mutat
; 34(8): 1080-4, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23649991
5.
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.
J Med Genet
; 49(8): 502-12, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22773737
6.
[Towards a generalization of non-invasive prenatal diagnosis of single-gene disorders? Assesment and outlook]. / Vers une généralisation du diagnostic prénatal non-invasif des maladies monogéniques ? État des lieux et perspectives.
Gynecol Obstet Fertil Senol
; 51(10): 463-470, 2023 10.
Artigo
em Francês
| MEDLINE | ID: mdl-37517661
7.
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
Hum Mutat
; 32(1): 70-2, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20979233
8.
Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort.
J Neurol
; 268(9): 3337-3343, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33666721
9.
Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule.
Sci Rep
; 10(1): 9861, 2020 06 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32555262
10.
The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients.
Am J Med Genet A
; 146A(7): 917-24, 2008 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18327785
11.
Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.
Eur J Hum Genet
; 11(2): 163-9, 2003 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-12634864
12.
Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia.
Am J Ophthalmol
; 138(6): 1016-21, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15629294
13.
V-shaped hyperpigmented linear lesions, patchy hypotrichosis, and teeth abnormalities in a young girl.
Pediatr Dermatol
; 24(5): 551-4, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17958808
14.
Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene.
Eur J Hum Genet
; 20(10): 1096-100, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22510846
15.
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
Eur J Med Genet
; 54(2): 157-60, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21044901
16.
Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasia.
Arch Dermatol
; 138(9): 1256-8, 2002 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12225002
17.
Cytogenetic investigations of infertile men with low sperm counts: a 25-year experience.
J Androl
; 23(1): 18-22; discussion 44-5, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-11780918
18.
Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases.
Am J Med Genet A
; 132A(2): 175-80, 2005 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15578619
19.
Monozygotic twins concordant for blood karyotype, but phenotypically discordant: a case of "mosaic chimerism".
Am J Med Genet A
; 135(2): 190-4, 2005 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15832362