R. Touraine

R. Touraine, P. J. Vries, V. Cottin, 2018, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

R. Touraine, V. Cottin, S. Jóźwiak, 2019, Front. Neurol..

A simple, low cost and non-invasive method for screening Y-chromosome microdeletions in infertile men.

R. Touraine, J. Laurent, R. Lévy, 2003, Human reproduction.

Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas

R. Touraine, P. J. Vries, V. Cottin, 2020, Frontiers in Neurology.

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

A. Munnich, R. Touraine, A. Toutain, 2001, American journal of human genetics.

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

A. Munnich, S. Antonarakis, N. Katsanis, 2007, Human mutation.

Plasminogen Activator Inhibitor 1 4G/5G and −844G/A Variants in Idiopathic Recurrent Pregnancy Loss

R. Touraine, W. Almawi, T. Mahjoub, 2013, American journal of reproductive immunology.

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

B. D. de Vries, P. Fergelot, W. Reardon, 2016, American journal of medical genetics. Part A.

CHRNG genotype–phenotype correlations in the multiple pterygium syndromes

R. Touraine, S. Holder, J. Fryns, 2011, Journal of Medical Genetics.

Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction

R. Touraine, F. Ramond, G. Millat, 2017, Clinical genetics.

BDNF and DYRK1A Are Variable and Inversely Correlated in Lymphoblastoid Cell Lines from Down Syndrome Patients

B. V. van Bon, A. Hoischen, B. D. de Vries, 2012, Molecular Neurobiology.

Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype

R. Touraine, V. Cottin, S. Jóźwiak, 2020, Frontiers in Neurology.

17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor

R. Touraine, M. Till, D. Sanlaville, 2010, American journal of medical genetics. Part A.

Failure of warfarin in treatment of calcinosis universalis.

R. Touraine, J. Roujeau, K. Lassoued, 1988, The American journal of medicine.

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X‐inactivation pattern

R. Touraine, N. Lévy, P. Edery, 2006, American journal of medical genetics. Part A.

Epileptic spasms are associated with increased stereo‐electroencephalography derived functional connectivity in tuberous sclerosis complex

P. Kahane, J. Isnard, M. Guenot, 2022, Epilepsia.

Musculoskeletal Symptoms in Patients With Cryopyrin‐Associated Periodic Syndromes: A Large Database Study

R. Touraine, I. Touitou, L. Cuisset, 2015, Arthritis & rheumatology.

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

S. Julia, R. Touraine, A. Toutain, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia.

R. Touraine, A. Vasiljevic, V. Portes, 2013, European journal of medical genetics.

Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4‐year‐old girl

R. Touraine, D. Ville, J. Dupont, 2014, American journal of medical genetics. Part A.

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

R. Touraine, A. Verloes, F. Ramond, 2020, Clinical genetics.

Lethal form of spinocerebellar ataxia type 7 with early onset in childhood.

R. Touraine, S. Chabrier, H. Patural, 2018, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy

R. Touraine, N. Chassaing, P. Jouk, 2020, Human mutation.

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

W. Reardon, R. Touraine, A. Toutain, 2007, American journal of human genetics.

Deletions at the SOX 10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

W. Reardon, R. Touraine, A. Toutain, 2007 .

Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations

R. Touraine, D. Rodriguez, O. Boespflug-Tanguy, 2019, Developmental medicine and child neurology.

TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex

R. Touraine, K. Budde, V. Cottin, 2021, Frontiers in Neurology.

Évaluation d’une technique simple et rapide de détection de microdélétions du bras long du chromosome Y

R. Touraine, J. Laurent, R. Lévy, 2004 .

Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene

D. Cooper, R. Touraine, C. Férec, 2017, Human mutation.

X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90rsk2, RSK2, ISPK, MAPKAP1)

R. Touraine, A. Hanauer, S. Jacquot, 2002, European Journal of Human Genetics.

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant

R. Touraine, B. Gérard, A. Piton, 2021, neurogenetics.

Genetic variation in TGFB1 gene and risk of idiopathic recurrent pregnancy loss.

R. Touraine, W. Almawi, T. Mahjoub, 2013, Molecular human reproduction.

Genetic variation in TGFB 1 gene and risk of idiopathic recurrent pregnancy loss

R. Touraine, W. Almawi, T. Mahjoub, 2013 .

Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death.

P. Croisille, H. Cavé, R. Touraine, 2017, European journal of medical genetics.

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials

R. Touraine, A. Toutain, N. Chassaing, 2021, Clinical genetics.

R. Touraine, S. Cunat, S. Meunier, 2021, American journal of medical genetics. Part A.

Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16A2/MCT8 Thyroid Hormone Transporter Function and Genotype–Phenotype Correlation

R. Touraine, T. Visser, C. Vaurs-Barrière, 2013, Human mutation.

Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1

R. Touraine, V. des Portes, L. Thibault, 2017, Molecular Syndromology.

Identification and functional analysis of SOX10 missense mutations in different subtypes of waardenburg syndrome

R. Touraine, M. Goossens, V. Pingault, 2011, Human mutation.

A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome

R. Touraine, A. Hanauer, M. Zeniou, 2002, European Journal of Pediatrics.

Y chromosome microdeletion screening in infertile men in France: a survey of French practice based on 88 IVF centres.

R. Touraine, R. Lévy, I. Aknin-Seifer, 2004, Human reproduction.

TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients

Anna C. Jansen, Maria Dahlin, Christoph Hertzberg, 2017, Orphanet Journal of Rare Diseases.

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

M. Koenig, R. Touraine, M. Claustres, 2017, Scientific Reports.

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

Xavier Estivill, Andrew J Sharp, Stefano Vicari, 2013, Genome research.

Mutations in SETD2 cause a novel overgrowth condition

R. Touraine, E. Pasmant, M. Vidaud, 2014, Journal of Medical Genetics.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

R. Touraine, A. Afenjar, A. Toutain, 2019, Journal of Medical Genetics.

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

M. Bauer, U. Kölsch, R. Krüger, 2015, Journal of Clinical Immunology.

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

R. Touraine, L. Cuisset, H. Hamdi-Rozé, 2019, Prenatal diagnosis.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

R. Touraine, C. Chiaverini, J. Rivière, 2017, Genetics in Medicine.

Identification of specific vascular endothelial growth factor susceptible and protective haplotypes associated with recurrent spontaneous miscarriages.

R. Touraine, W. Almawi, T. Mahjoub, 2012, Human reproduction.

Are polymorphisms of the immunoregulatory factor CD40LG implicated in acute transfusion reactions?

C. Aloui, R. Touraine, S. Laradi, 2014, Scientific Reports.

Epileptogenicity in tuberous sclerosis complex: A stereoelectroencephalographic study

P. Kahane, F. Bartolomei, J. Isnard, 2019, Epilepsia.

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

M. Jaatun, K. Katanyuwong, P. Kwan, 2018, Epilepsia open.

R. Touraine, R. de la Torre, L. Squassante, 2017, Advances in Therapy.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

S. Julia, R. Touraine, A. Afenjar, 2018, Journal of Medical Genetics.

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant

R. Touraine, B. Gérard, A. Piton, 2021, neurogenetics.

Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients.

R. Touraine, T. Frebourg, J. Roume, 2016, Journal of neuromuscular diseases.

A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

R. Touraine, A. Toutain, T. Frebourg, 2010, Human mutation.

A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

R. Touraine, A. Toutain, T. Frebourg, 2010, Human mutation.

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

A. Munnich, N. Boddaert, R. Touraine, 2013, Clinical genetics.

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

R. Touraine, J. Mandel, J. Thevenon, 2020, Journal of Medical Genetics.

First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond–Blackfan anemia

R. Touraine, L. D. Da Costa, T. Leblanc, 2013, American journal of hematology.

Binder phenotype: clinical and etiological heterogeneity of the so‐called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature

R. Touraine, A. Verloes, M. Vazquez, 2009, Prenatal diagnosis.

First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond–Blackfan anemia.

R. Touraine, L. D. Da Costa, T. Leblanc, 2013, American journal of hematology.

MR cholangiography in neonates and infants: feasibility and preliminary applications.

R. Touraine, L. Guibaud, J. Pracros, 1998, AJR. American journal of roentgenology.

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

A. Munnich, R. Hennekam, J. Tolmie, 2014, European Journal of Human Genetics.

[Pleuroscopy in the diagnosis of pleural effusions].

R. Touraine, 1962, La Revue du praticien.

Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome.

F. Varlet, R. Hofstra, R. Touraine, 2016, Clinics and research in hepatology and gastroenterology.

Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness

R. Touraine, P. J. Vries, V. Cottin, 2018, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.

R. Touraine, V. Bernard, A. Calender, 2007, European journal of medical genetics.

Confirmation that RIPK4 mutations cause not only Bartsocas‐Papas syndrome but also CHAND syndrome

R. Touraine, N. Philip, M. Jeraiby, 2017, American journal of medical genetics. Part A.

Molecular Signatures of Cardiac Defects in Down Syndrome Lymphoblastoid Cell Lines Suggest Altered Ciliome and Hedgehog Pathways

A. Mégarbané, R. Touraine, L. Dauphinot, 2012, PloS one.

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1‐mutated males

L. Hertz-Pannier, R. Touraine, F. Giuliano, 2011, Clinical genetics.

[Rheumatoid purpura in adults. Apropos of 22 cases].

R. Touraine, J. Clauvel, J. Bernard, 1972, Nouvelle revue francaise d'hematologie.

[Homozygous cutaneo-tendinous forms of hypercholesteremic xanthomatosis in an exemplary familial case. Trial of plasmapheresis ans heroic treatment].

R. Touraine, J. Truffert, J. de Gennes, 1967, Bulletins et memoires de la Societe medicale des hopitaux de Paris.

Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS

G. Borsani, L. Mazzola, S. Berkovic, 2020, Annals of neurology.

Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study

R. Touraine, V. Cottin, S. Jóźwiak, 2020, Frontiers in Neurology.

Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex

R. Touraine, R. Nabbout, D. Ville, 2019, Epilepsy & Behavior.

Binder phenotype in mothers affected with autoimmune disorders

R. Touraine, L. Pasquier, E. Colin, 2012, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia

Alice C. Roy, Y. Paulignan, T. Nazir, 2014, Orphanet Journal of Rare Diseases.

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

R. Touraine, A. Verloes, B. Gilbert-Dussardier, 2019, Orphanet Journal of Rare Diseases.

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

S. Mehta, Y. Crow, D. Clifford, 2020, American journal of medical genetics. Part A.

Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry

R. Touraine, V. Cottin, S. Jóźwiak, 2019, Front. Neurol..

Impact of genetic predisposition of de novo uveitis with etanercept in ankylosing spondylitis.

R. Touraine, M. Killian, T. Thomas, 2015, Annals of the rheumatic diseases.

Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry

R. Touraine, V. Cottin, S. Jóźwiak, 2021, Frontiers in Neurology.

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

M. Jaatun, K. Katanyuwong, E. Pataraia, 2018, Orphanet Journal of Rare Diseases.

Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project

R. Touraine, V. Cottin, S. Jóźwiak, 2020, Journal of neurodevelopmental disorders.

Tuberous Sclerosis Complex: Genetic counselling and perinatal follow-up.

R. Touraine, Q. Hauet, A. Baruteau, 2022, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients

Y. Paulignan, T. Nazir, N. Hadjikhani, 2016, PloS one.

Association of the IL‐10 Receptor A536G (S138G) Loss‐of‐Function Variant with Recurrent Miscarriage

R. Touraine, W. Almawi, T. Mahjoub, 2014, American journal of reproductive immunology.

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population

R. Touraine, C. Elie, J. Auger, 2016, Hormone Research in Paediatrics.

Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study

R. Touraine, V. Cottin, S. Jóźwiak, 2019, Front. Neurol..

Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene

R. Touraine, A. Poujois, A. Poujois, 2006, Journal of Neurology.

[The complex phenotype of ARC syndrome: A new case].

R. Touraine, F. Ramond, A. Giraud, 2017, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance

T. Lenaerts, R. Touraine, M. Abramowicz, 2023, Human Genomics.

A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1.

R. Touraine, D. Geneviève, O. Prodhomme, 2022, European journal of medical genetics.

Localization of a non‐syndromic X‐linked mental retardation gene (MRX80) to Xq22‐q24

R. Touraine, H. Plauchu, P. Edery, 2003, American journal of medical genetics. Part A.

BDNF and DYRK1A Are Variable and Inversely Correlated in Lymphoblastoid Cell Lines from Down Syndrome Patients

A. Hoischen, S. Antonarakis, B. Menten, 2012, Molecular Neurobiology.

Autopsy findings in EPG5‐related Vici syndrome with antenatal onset

R. Touraine, A. Laquérriere, M. Gautel, 2017, American journal of medical genetics. Part A.

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

A. Munnich, R. Hennekam, J. Tolmie, 2014, European Journal of Human Genetics.

A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2

P. Elliott, M. Jarvelin, L. Coin, 2009, Nature.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

P. Elliott, M. Jarvelin, C. Gieger, 2021 .

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.

R. Touraine, D. Ville, V. des Portes, 2015, European journal of medical genetics.

Arthritis associated to cardio-facio-cutaneous syndrome related to a MAP2K1 mutation.

R. Touraine, F. Ramond, T. Thomas, 2020, Joint, bone, spine : revue du rhumatisme.

Clinical heterogeneity of NADSYN1‐associated VCRL syndrome

R. Touraine, V. Cormier-Daire, T. Attié-Bitach, 2023, Clinical genetics.