Detalhe da pesquisa
1.
Exophiala dermatitidis Revealing Cystic Fibrosis in Adult Patients with Chronic Pulmonary Disease.
Mycopathologia
; 183(1): 71-79, 2018 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-29094263
2.
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Hum Mutat
; 38(10): 1297-1315, 2017 10.
Artigo
Inglês
| MEDLINE | ID: mdl-28603918
3.
Long-term treatment of cutaneous manifestations of tuberous sclerosis complex with topical 1% sirolimus cream: A prospective study of 25 patients.
J Am Acad Dermatol
; 77(3): 464-472.e3, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28502378
4.
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.
Hum Mutat
; 37(4): 364-70, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26703369
5.
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Hum Mol Genet
; 23(9): 2279-89, 2014 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24319099
6.
Limb overgrowth associated with a mosaic TSC2 second-hit in tuberous sclerosis complex.
Am J Med Genet A
; 182(11): 2803-2804, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32804443
7.
Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!
Ann Clin Transl Neurol
; 10(10): 1937-1943, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37491839
8.
French recommendations for the diagnosis and management of lymphangioleiomyomatosis.
Respir Med Res
; 83: 101010, 2023 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-37087906
9.
Molecular characterization of corona radiata cells from patients with diminished ovarian reserve using microarray and microfluidic-based gene expression profiling.
Hum Reprod
; 27(3): 829-43, 2012 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-22246450
10.
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Genes (Basel)
; 13(2)2022 02 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35205364
11.
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K).
Neurogenetics
; 10(2): 145-50, 2009 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-19089472
12.
Pure bulbar motor neuron involvement linked to an abnormal CAG repeat expansion in the androgen receptor gene.
Amyotroph Lateral Scler
; 9(1): 40-2, 2008 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-17852020
13.
Late onset of Wilson's disease in a family with genetic haemochromatosis.
Eur J Gastroenterol Hepatol
; 18(1): 43-7, 2006 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-16357618
14.
CFTR genotypes in patients with normal or borderline sweat chloride levels.
Hum Mutat
; 22(4): 340, 2003 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-12955726
15.
Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease.
Ann Neurol
; 61(4): 315-23, 2007 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-17444508
16.
Microchimerism from a dizygotic twin in juvenile ulcerative lichen planus.
Lancet
; 359(9320): 1861-2, 2002 May 25.
Artigo
Inglês
| MEDLINE | ID: mdl-12044404