Alpha 2.0
Login Register
» Authors » M C Romey

M C Romey

Explore the profile of M C Romey including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 17
Citations 245
Followers 0
Related Specialties
Genetics
Molecular Biology
Biochemistry
Top 10 Co-Authors
M Claustres
J Demaille
M Desgeorges
P Aguilar-Martinez
J C Gris
J F Schved
C Guittard
T Casals
P Malzac
S Carles
Published In
Hum Genet
Hum Mol Genet
Hum Mutat
Am J Med Genet
Biochem Biophys Res Commun
Affiliations
Soon will be listed here.
Recent Articles
1.
First functional polymorphism in CFTR promoter that results in decreased transcriptional activity and Sp1/USF binding
Taulan M, Lopez E, Guittard C, Rene C, Baux D, Altieri J, et al.
Biochem Biophys Res Commun . 2007 Aug; 361(3):775-81. PMID: 17678620
Growing evidences show that functionally relevant polymorphisms in various promoters alter both transcriptional activity and affinities of existing protein-DNA interactions, and thus influence disease progression in humans. We previously reported...
2.
A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals
Bombieri C, Giorgi S, Carles S, de Cid R, Belpinati F, Tandoi C, et al.
Hum Genet . 2000 Apr; 106(2):172-8. PMID: 10746558
Given q as the global frequency of the alleles causing a disease, any allele with a frequency higher than q minus the cumulative frequency of the previously known disease-causing mutations...
3.
A naturally occurring sequence variation that creates a YY1 element is associated with increased cystic fibrosis transmembrane conductance regulator gene expression
Romey M, Pallares-Ruiz N, Mange A, Mettling C, Peytavi R, Demaille J, et al.
J Biol Chem . 2000 Feb; 275(5):3561-7. PMID: 10652351
We have identified previously a novel complex mutant allele in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in a patient affected with cystic fibrosis (CF). This allele contained a...
4.
Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone
Romey M, Guittard C, Chazalette J, Frossard P, Dawson K, Patton M, et al.
Hum Genet . 1999 Sep; 105(1-2):145-50. PMID: 10480369
We recently reported a novel complex allele in the cystic fibrosis transmembrane regulator (CFTR) gene, combining a sequence change in the minimal CFTR promoter (-102T>A) and a missense mutation in...
5.
First putative sequence alterations in the minimal CFTR promoter region
Romey M, Guittard C, Carles S, Demaille J, Claustres M, Ramsay M
J Med Genet . 1999 Apr; 36(3):263-4. PMID: 10204861
No abstract available.
6.
Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test
Romey M, Tuffery S, Desgeorges M, Bienvenu T, Demaille J, Claustres M
Hum Genet . 1996 Sep; 98(3):328-32. PMID: 8707304
mRNA transcripts of the cystic fibrosis transmembrane conductance regulator (CFTR) gene were analyzed from lymphocytes of two cystic fibrosis compound heterozygotes (394delTT/3195del6 and 1215delG/ 2423delG), of five related carriers heterozygous...
7.
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
Chillon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, et al.
N Engl J Med . 1995 Jun; 332(22):1475-80. PMID: 7739684
Background: Congenital bilateral absence of the vas deferens (CBAVD) is a form of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified....
8.
Heterotaxia syndrome and autosomal dominant inheritance
Alonso S, Pierpont M, Radtke W, Martinez J, Chen S, Grant J, et al.
Am J Med Genet . 1995 Mar; 56(1):12-5. PMID: 7747776
Previous familial cases of recurrent heterotaxia have suggested an autosomal recessive or exceptionally X-linked or dominant inheritance. Here, we report six families including 18 affected members, consistent with autosomal dominant...
9.
Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult
Romey M, Desgeorges M, Ray P, Godard P, Demaille J, Claustres M
Hum Mutat . 1995 Jan; 6(2):190-1. PMID: 7581407
No abstract available.
10.
Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications
Aguilar-Martinez P, Romey M, Schved J, Gris J, Demaille J, Claustres M
Hum Genet . 1994 Sep; 94(3):287-90. PMID: 8076946
The search for mutations of the factor IX gene responsible for haemophilia B should nowadays be used routinely for the molecular diagnosis of this inherited disorder, i.e. carrier detection and...