M. Roussey

发表

Formative evaluation to improve prevention of sudden infant death syndrome (SIDS): a prospective study

B. Branger, P. Pladys, Amélie Ryckewaert D'Halluin, 2011, Acta paediatrica.

[Can we explain the sudden infant death syndrome? About a series of 80 cases with an autopsy in Rennes University Hospital, France in the period 1994-2007].

E. Leray, M. Roussey, A. Venisse, 2010, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Pancreatic enzyme replacement therapy for young cystic fibrosis patients.

N. Kapel, G. Bellon, A. Munck, 2009, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

[Neonatal screening facing progresses of biology].

J. Sarles, B. Chabrol, M. Roussey, 2014, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Newborn screening programmes including genetic analyses: limits and risks of negative consequences?

C. Thauvin-Robinet, E. Girodon, A. Munck, 2010, Journal of Epidemiology & Community Health.

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

E. Génin, C. Clavel, S. Leroy, 2009, Journal of Medical Genetics.

Whole-body post-mortem computed tomography compared with autopsy in the investigation of unexpected death in infants and children

F. Pelé, C. Treguier, A. Marchand, 2013, European Radiology.

Non‐classic cystic fibrosis associated with D1152H CFTR mutation

P. Burgel, N. Stremler, M. Reynaud‐Gaubert, 2010, Clinical genetics.

Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis

C. Thauvin-Robinet, I. Sermet-Gaudelus, I. Fajac, 2010, Thorax.

Role of congenital long-QT syndrome in unexplained sudden infant death: proposal for an electrocardiographic screening in relatives

J. Daubert, F. Tréguer, P. Mabo, 2009, European Journal of Pediatrics.

Excess twinning in the parents of spina bifida.

M. Roussey, B. le Marec, J. Oger, 1978, Progress in clinical and biological research.

Non-specific post-mortem modifications on whole-body post-mortem computed tomography in sudden unexpected death in infancy

F. Pelé, C. Treguier, M. Roussey, 2015 .

[Contribution of post mortem skull scanning for the study of sudden infant death].

Y. Rolland, C. Treguier, M. Roussey, 1996, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

AGER -429T/C Is Associated with an Increased Lung Disease Severity in Cystic Fibrosis

P. Böelle, P. Reix, J. Dalphin, 2012, PloS one.

Pathogenicity of Moraxella catarrhalis in cystic fibrosis

P. Bétrémieux, M. Roussey, A. Dabadie, 1995, Acta paediatrica.

Increased incidence of congenital hypothyroidism in France from 1982 to 2012: a nationwide multicenter analysis.

D. Cheillan, J. Léger, R. Coutant, 2016, Annals of epidemiology.

Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening.

I. Sermet-Gaudelus, M. Audrézet, E. Girodon, 2017, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Obstructive azoospermia with agenesis of vas deferens or with bronchiectasia (Young's syndrome): a genetic approach.

D. Le Lannou, M. Blayau, P. Jézéquel, 1995, Human reproduction.

Childhood Deprivation and Neglect

M. Roussey, M. Balençon, M. Pierre, 2018 .

Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy

M. Claustres, C. Férec, M. Audrézet, 2015, Genetics in Medicine.

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

A. Valéri, C. Clavel, G. Karsenty, 2013, Journal of Medical Genetics.

Implementation of the French nationwide cystic fibrosis newborn screening program.

A. Munck, M. Roussey, C. Sahler, 2008, The Journal of pediatrics.

Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations

C. Férec, M. Audrézet, M. Blayau, 2007, Journal of Inherited Metabolic Disease.

Immunoreactive Trypsin/DNA Newborn Screening for Cystic Fibrosis: Should the R117H Variant Be Included in CFTR Mutation Panels?

C. Férec, M. Audrézet, H. Journel, 2006, Pediatrics.

Influence of interleukin-10 on Aspergillus fumigatus infection in patients with cystic fibrosis.

C. Flamant, P. Boelle, A. Clément, 2005, The Journal of infectious diseases.

Prevalence of the C282Y mutation in Brittany: penetrance of genetic hemochromatosis?

P. Fergelot, J. L. Le Gall, Y. Deugnier, 1998, Annales de genetique.

Screening to detect permanent childhood hearing impairment in neonates transferred from the newborn nursery.

R. Dauman, F. Denoyelle, N. Garabedian, 2009, International journal of pediatric otorhinolaryngology.

Dose-dependent in vitro effect of recombinant human DNase on rheological and transport properties of cystic fibrosis respiratory mucus.

S. Shak, J. Zahm, M. Roussey, 1995, The European respiratory journal.

Dose-dependent in v vitro effect o of rrecombinant h human D DNase o on rheological a and ttransport p properties o of c cystic ffibrosis respiratory m mucus

S. Shak, M. Roussey, A. Dabadie, 1995 .

Blood concentrations of pancreatitis associated protein in neonates: relevance to neonatal screening for cystic fibrosis

J. Sarles, A. Toutain, J. Dagorn, 1999, Archives of disease in childhood. Fetal and neonatal edition.

Magnetic resonance imaging in Pelizaeus-Merzbacher disease

Y. Gandon, C. Allaire, H. Journel, 2004, Neuroradiology.

Optimization of the French cystic fibrosis newborn screening programme by a centralized tracking process

M. Audrézet, A. Munck, D. Cheillan, 2017, Journal of medical screening.

Pulmonary outcome differences in U.S. and French cystic fibrosis cohorts diagnosed through newborn screening.

C. Férec, P. Farrell, Zhanhai Li, 2010, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Combining immunoreactive trypsinogen and pancreatitis-associated protein assays, a method of newborn screening for cystic fibrosis that avoids DNA analysis.

J. Sarles, J. Dagorn, M. Roussey, 2005, The Journal of pediatrics.

[Adult care centers for patients with cystic fibrosis: prerequisites and practical organization. Cystic Fibrosis Care Centers of Rennes and Lille].

B. Wallaert, D. Turck, T. Perez, 2000, Revue des maladies respiratoires.

Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France

C. Férec, M. Audrézet, M. Blayau, 2003, Human Genetics.

PAP assays in newborn screening for cystic fibrosis: a population-based cost-effectiveness study

R. Giorgi, M. Roussey, V. Séror, 2016, Journal of medical screening.

Neonatal screening for cystic fibrosis: comparing the performances of IRT/DNA and IRT/PAP.

J. Sarles, J. Dagorn, A. Munck, 2014, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses

C. Férec, M. Audrézet, B. Mercier, 1995, Human Genetics.

Microbiologic contamination study of nebulizers after aerosol therapy in patients with cystic fibrosis.

J. Lemeland, F. Brémont, J. Derelle, 2000, American journal of infection control.

Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France

C. Férec, P. Saliou, M. Audrézet, 2012, Orphanet Journal of Rare Diseases.

The Effectiveness of Chemotherapy in a Case of Childhood Esthesioneuroblastoma

M. Carsin, M. Roussey, H. Jouan, 1987 .

Trisomy 11p15 and Beckwith-Wiedemann syndrome. Report of two new cases.

C. Allaire, H. Journel, J. Lucas, 1985, Annales de genetique.

Psychological effects of false-positive results in cystic fibrosis newborn screening: a two-year follow-up.

E. Leray, I. Pin, D. Turck, 2010, The Journal of pediatrics.

Cascade testing in families of carriers identified through newborn screening in Western Brittany (France).

C. Férec, M. Audrézet, P. Parent, 2013, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis

C. Férec, A. Chaventré, M. Audrézet, 2000, The Lancet.

The importance of sweat testing for older siblings of patients with cystic fibrosis identified by newborn screening.

A. Munck, E. Houssin, M. Roussey, 2009, The Journal of pediatrics.

[Primary dentition in trisomy 21. Apropos 114 children followed-up regularly].

H. Journel, M. Roussey, B. le Marec, 1986, Annales de pediatrie.

[Height and weight development and auxology in trisomy 21 in Brittany].

P. Bétrémieux, H. Journel, P. Parent, 1986, Annales de pediatrie.

Whole-body MR imaging in suspected physical child abuse: comparison with skeletal survey and bone scintigraphy findings from the PEDIMA prospective multicentre study

L. Riffaud, C. Adamsbaum, E. Wodey, 2021, European Radiology.

[Visceral leishmaniasis in an infant in Brittany: discussion on the modes of transmission out endemic zones].

M. Roussey, A. Dabadie, C. Guiguen, 1993, Pediatrie.

Subtle health impairment and socioeducational attainment in young adult patients with congenital hypothyroidism diagnosed by neonatal screening: a longitudinal population-based cohort study.

B. Larroque, J. Lanöe, E. Ecosse, 2011, The Journal of clinical endocrinology and metabolism.

Genetic counselling in a case of TAR syndrome where the father presented malformations of the feet

Y. Gandon, S. Odent, H. Bracq, 1988, Clinical genetics.

[Congenital diaphragmatic hernia with a late disclosure].

C. Treguier, H. Journel, B. Frémond, 1989, Pediatrie.

Efficiency of neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children born in mainland France between 1996 and 2003.

J. Coste, J. Carel, V. Tardy, 2012, Archives of pediatrics & adolescent medicine.

Is neonatal screening relevant for detecting permanent childhood hearing impairment

R. Dauman, N. Garabedian, M. Roussey, 2009 .

Comparing the clinical evolution of cystic fibrosis screened neonatally to that of cystic fibrosis diagnosed from clinical symptoms: A 10‐year retrospective study in a French region (Brittany)

B. Branger, G. Bretaudeau, D. Siret, 2003, Pediatric pulmonology.

Acute pancreatitis from a duodenal foreign body in a child.

P. Bétrémieux, M. Roussey, C. Lefrançois, 1989, Journal of pediatric gastroenterology and nutrition.

Prenatal diagnosis of familial tuberous sclerosis following detection of cardiac rhabdomyoma by ultrasound

H. Journel, M. Roussey, B. le Marec, 1986, Prenatal diagnosis.

Glutathione-S-transferase M1, M3, P1 and T1 polymorphisms and severity of lung disease in children with cystic fibrosis.

C. Flamant, P. Böelle, R. Strange, 2004, Pharmacogenetics.

Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20

S. Odent, H. Journel, M. Blayau, 1993, Human Genetics.

French CF family genotype analysis shows that the R297Q mutation is a rare polymorphism

P. Fergelot, J. L. Le Gall, B. Chauvel, 1995, Human mutation.

[Case of early hydrocephalus in mucopolysaccharidosis type 1].

J. L. Le Gall, Y. Gandon, M. Roussey, 1983, Pediatrie.

Title : Efficiency of neonatal screening for congenital adrenal 1 hyperplasia due to 21-hydroxylase deficiency in children born in mainland 2 France between 1996 and 2003 3 Short title : Screening for congenital adrenal hyperplasia 4

J. Coste, J. Carel, V. Tardy, 2012 .

[Neural tube defects (spina bifida and anencephaly) in Brittany].

H. Journel, P. Parent, M. Roussey, 1985, Pediatrie.

[Prone position and unexpected sudden infant death].

M. Roussey, G. Defawe, J. Sénécal, 1987, Archives francaises de pediatrie.

[Kangaroo mother care: bibliographical review on the current attitudes, their interests and their limits].

P. Bétrémieux, M. Roussey, A. de la Pintière, 2004, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Neonatal Screening for Cystic Fibrosis in Brittany, France: Assessment of 10 Years’ Experience and Impact on Prenatal Diagnosis

C. Férec, A. Chaventré, M. Audrézet, 2001 .

[Accidental ingestion of caustics in children. Apropos of 100 cases].

P. Bétrémieux, B. Frémond, M. Roussey, 1989, Archives francaises de pediatrie.

[Congenital intrahepatic arterio-portal fistula: diagnostic and therapeutic aspects].

F. Brunelle, C. Treguier, B. Frémond, 1993, Pediatrie.

MCA/MR syndrome with oligodactyly and Möbius anomaly in first cousins: new syndrome or familial facial-limb disruption sequence?

H. Journel, M. Roussey, B. le Marec, 1989, American journal of medical genetics.

Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transport.

Milan Macek, Gérard Lenoir, J. Sarles, 2010, American journal of respiratory and critical care medicine.

Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results.

A. Fischer, C. Picard, I. Durand-zaleski, 2019, Clinical immunology.

Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy

M. Claustres, C. Férec, M. Audrézet, 2014, Genetics in Medicine.

Revisited physicochemical and transport properties of respiratory mucus in genotyped cystic fibrosis patients.

C. Clavel, J. Zahm, S. de Bentzmann, 1997, American journal of respiratory and critical care medicine.

[Current concepts on risk and protective factors for sudden infant death syndrome].

M. Roussey, A. Venisse, G. Defawe, 2007, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

[Child protection: Pediatricians' knowledge and practices in Brittany].

E. Gauducheau, M. Roussey, N. Vabres, 2018, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

[Child protection system: Knowledge and role of the general practitioners in Ille-et-Vilaine].

J. Brun, M. Roussey, M. Balençon, 2016, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

[Glomerular nephropathy with IgA mesangium deposits and Crohn disease].

M. Roussey, S. Taque, S. Gié, 1996, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960

C. Férec, M. Audrézet, G. Bellis, 2002, Human Genetics.

[Trisomy 18 with prolonged survival. Case report of a girl followed to 6 years of age].

C. Le Berre, M. Roussey, B. le Marec, 1979, Pediatrie.

[Recurrent fever episodes in an African child: diagnostic difficulties of trypanosomiasis in France].

M. Roussey, A. Dabadie, C. Guiguen, 1992, Pediatrie.

[Epilepsy and trisomy 21. Apropos of 27 cases].

C. Le Berre, P. Bétrémieux, H. Journel, 1986, Annales de pediatrie.

WS11.6 Newborn screening for cystic fibrosis: Rationale for p.Arg117His (R117H) removal from the CFTR mutation panel in France

C. Thauvin-Robinet, M. Audrézet, E. Girodon, 2015 .

Liver disease in pediatric patients with cystic fibrosis is associated with glutathione S‐transferase P1 polymorphism

A. Flahault, C. Flamant, R. Strange, 2002, Hepatology.

[Reflections on 10 years of medically induced abortions in Ille-et-Vilaine].

P. Bétrémieux, S. Odent, H. Journel, 1994, Journal de gynecologie, obstetrique et biologie de la reproduction.

Liver disease in pediatric patients with cystic fibrosis is associated with glutathione S‐transferase P1 polymorphism

A. Flahault, C. Flamant, R. Strange, 2002, Hepatology.

A new water-soluble oral vitamin E formulation in cystic fibrosis (CF) children

D. Turck, A. Munck, F. Huet, 2010 .

[A new case of Menkes syndrome. Prenatal exclusion diagnosis in a subsequent pregnancy].

M. Roussey, J. Segalen, A. Dabadie, 1984, Pediatrie.

Screening to detect permanent childhood hearing impairment in neonates transferred from the newborn nursery.

R. Dauman, F. Denoyelle, N. Garabedian, 2009, International journal of pediatric otorhinolaryngology.

Nephrotic Syndrome in a Child with Cystic Fibrosis

M. Roussey, S. Gié, A. Dabadie, 1988, Acta paediatrica Scandinavica.

Blood concentrations of pancreatitis associated protein in neonates: relevance to neonatal screening for cystic fibrosis

J. Sarles, A. Toutain, J. Dagorn, 1999, Archives of disease in childhood. Fetal and neonatal edition.

34* Cystic fibrosis newborn screened false-negative cohort: a national long term survey

A. Munck, E. Houssin, M. Roussey, 2011 .