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A New High‐Resolution Magnetic Scanner for Sedimentary Sections

Geochemistry, geophysics, geosystems : G3, 2019-07, Vol.20 (7), p.3186-3200

2019

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Renal Toxicogenomic Response to Chronic Uranyl Nitrate Insult in Mice

Environmental health perspectives, 2004-11, Vol.112 (16), p.1628-1635

2004

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Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens

The New England journal of medicine, 1995-06, Vol.332 (22), p.1475-1480

1995

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Caractérisation fonctionnelle de mutants CFTR naturels : intérêt pour la mucoviscidose

Annales de biologie clinique (Paris), 2006-09, Vol.64 (5), p.429-437

ROMEY, M.-C

2006

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A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals

Human genetics, 2000-02, Vol.106 (2), p.172-178

2000

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First functional polymorphism in CFTR promoter that results in decreased transcriptional activity and Sp1/USF binding

Biochemical and biophysical research communications, 2007-09, Vol.361 (3), p.775-781

2007

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Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone

Human genetics, 1999-07, Vol.105 (1-2), p.145-150

1999

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First putative sequence alterations in the minimal CFTR promoter region

Journal of medical genetics, 1999-03, Vol.36 (3), p.263-264

1999

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Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test

Human genetics, 1996-09, Vol.98 (3), p.328-332

1996

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Functional characterization of naturally occurring CFTR mutants: interest for cystic fibrosis

Annales de biologie clinique (Paris), 2006-09, Vol.64 (5), p.429-437

Romey, M-C

2006

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A Naturally Occurring Sequence Variation That Creates a YY1 Element Is Associated with Increased Cystic Fibrosis Transmembrane Conductance Regulator Gene Expression

The Journal of biological chemistry, 2000-02, Vol.275 (5), p.3561-3567

2000

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Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult

Human mutation, 1995, Vol.6 (2), p.190-191

1995

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READING PROFICIENCY AND READING STRATEGIS OF GRADE FOUR PUPILS IN SELECTED PUBLIC ELEMENTARY SCHOOLS

International Journal of Applied Science and Research, 2023, Vol.6 (4), p.115-132

2023

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Treatment and Assessment of Obstructive Lung Disease in the Elderly

Journal of allergy and clinical immunology, 2010-02, Vol.125 (2), p.AB66-AB66

2010

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A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient

Human molecular genetics, 1994-02, Vol.3 (2), p.369-370

1994

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103 Les facteurs de transcription : de nouvelles cibles pour la thérapie des maladies respiratoires ?

Revue des maladies respiratoires, 2006-11, Vol.23 (5), p.566-566

2006

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121 Les régulateurs de l’expression pulmonaire du gène CFTR

Revue des maladies respiratoires, 2006-11, Vol.23 (5), p.576-576

2006

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Rapid detection of single nucleotide deletions : application to the β 6 (-A) mutation of the β-globin gene and to cystic fibrosis

Human genetics, 1993-12, Vol.92 (6), p.627-628

1993

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Outcomes of Various Interventions in Patients with Eosinophilic Esophagitis (EE)

Journal of allergy and clinical immunology, 2009-02, Vol.123 (2), p.S246-S246

2009

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Factor IX gene mutations causing haemophilia B : comparison of SSC screening versus systematic DNA sequencing and diagnostic applications

Human genetics, 1994-09, Vol.94 (3), p.287-290

1994

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A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a Southern French patient

Human mutation, 1994, Vol.3 (2), p.156-158

1994

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Homozygosity for a novel missense mutation (1175V) in exon 5 of the CFTR gene in a family of Armenian descent

Human molecular genetics, 1994-04, Vol.3 (4), p.661-662

1994

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Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens

Journal of medical genetics, 2011-03, Vol.48 (3), p.152-159

2011

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Comprehensive analysis of the renal transcriptional response to acute uranyl nitrate exposure

BMC genomics, 2006-01, Vol.7 (1), p.2-2, Article 2

2006

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Direct carrier testing of haemophilia B by SSCP

Clinical and laboratory haematology, 1994-03, Vol.16 (1), p.15-20

1994

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A New High‐Resolution Magnetic Scanner for Sedimentary Sections

Renal Toxicogenomic Response to Chronic Uranyl Nitrate Insult in Mice

Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens

Caractérisation fonctionnelle de mutants CFTR naturels : intérêt pour la mucoviscidose

A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals

First functional polymorphism in CFTR promoter that results in decreased transcriptional activity and Sp1/USF binding

Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone

First putative sequence alterations in the minimal CFTR promoter region

Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test

Functional characterization of naturally occurring CFTR mutants: interest for cystic fibrosis

A Naturally Occurring Sequence Variation That Creates a YY1 Element Is Associated with Increased Cystic Fibrosis Transmembrane Conductance Regulator Gene Expression

Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult

READING PROFICIENCY AND READING STRATEGIS OF GRADE FOUR PUPILS IN SELECTED PUBLIC ELEMENTARY SCHOOLS

Treatment and Assessment of Obstructive Lung Disease in the Elderly

A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient

103 Les facteurs de transcription : de nouvelles cibles pour la thérapie des maladies respiratoires ?

121 Les régulateurs de l’expression pulmonaire du gène CFTR

Rapid detection of single nucleotide deletions : application to the β 6 (-A) mutation of the β-globin gene and to cystic fibrosis

Outcomes of Various Interventions in Patients with Eosinophilic Esophagitis (EE)

Factor IX gene mutations causing haemophilia B : comparison of SSC screening versus systematic DNA sequencing and diagnostic applications

A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a Southern French patient

Homozygosity for a novel missense mutation (1175V) in exon 5 of the CFTR gene in a family of Armenian descent

Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens

Comprehensive analysis of the renal transcriptional response to acute uranyl nitrate exposure

Direct carrier testing of haemophilia B by SSCP

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