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List of works by Annick Toutain

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

scientific article

A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family

scientific article

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

scientific article

A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India

scientific article

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

scientific article

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

article

A gene for hereditary multiple exostoses maps to chromosome 19p.

scientific article

A new form of severe spondyloepimetaphyseal dysplasia: Clinical and radiological characterization

scientific article published on 16 August 2013

A novel mutation in the TM6 domain of GABBR2 leads to a Rett-like phenotype.

scientific article

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

scientific article published on 01 January 2010

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.

scientific article published on 6 November 2015

A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study

scientific article published on 21 March 2007

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy

scientific article published on 04 July 2007

A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

scientific article published on 21 January 2015

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

scientific article published on 26 October 2015

Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature

scientific article published on 14 February 2019

Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect

scientific article published on 27 March 2009

Agenesis of cruciate ligaments and menisci causing severe knee dysplasia in TAR syndrome

scientific article published in August 2001

Akinesia, arthrogryposis, craniosynostosis: a presentation of neonatal myasthenia with fetal onset

scientific article published in August 2002

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

scientific article published on 14 July 2009

Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?

scientific article published in October 1998

Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis?

scientific article

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

scientific article

Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype

scientific article

Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations

scientific article

Barth syndrome in a female patient

scientific article

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

article

Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum ofMED12mutations

article

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

scientific article published in March 1999

Brachydactyly type A1 with short humerus and associated skeletal features

scientific article published on 01 December 2010

CUGC for Simpson-Golabi-Behmel syndrome (SGBS)

scientific article published on 25 January 2019

Carbohydrate-deficient glycoprotein syndrome and progression in electrophysiological results

scientific article

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

scientific article published on 17 August 2007

Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: A review ⬇️

scientific article published on February 3, 1998

Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion

scientific article

Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.

scientific article

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

scientific article

Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review

scientific article published on 2 April 2015

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

scientific article published on 08 September 2016

Clinical and molecular spectrum of renal malformations in Kabuki syndrome

scientific article published on 25 March 2013

Clinical identification of a human equivalent to the short ear (se) murine phenotype

scientific article published on 01 January 1994

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

scientific article published on 27 September 2017

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

scientific article

Comment on "Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome".

scientific article published in October 2017

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

scientific article published in February 2009

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

Congenital glutamine deficiency with glutamine synthetase mutations

scientific article published in November 2005

Congenital neonatal myotonic dystrophy with persistent pulmonary hypertension and coma: a difficult diagnosis

scientific article published on 01 January 1999

Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganization.

scientific article

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

scientific article published on 8 March 2017

Cortical malformations and epilepsy: Role of MR imaging

scientific article

Crane-Heise syndrome: two further case reports

scientific article published on 20 November 2010

Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation.

scientific article published on 16 December 2010

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article published on 01 April 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

scientific article published in November 2017

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

scientific article published on 11 January 2016

Deafness and Mondini dysplasia in Kabuki (Niikawa-Kuroki) syndrome. Report of a case and review of the literature.

scientific article published on January 1997

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

scientific article published on 22 October 2007

Detection of an Intragenic Deletion Expands the Spectrum of CTSC Mutations in Papillon–Lefèvre Syndrome

scientific article published on 18 October 2007

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

scientific article published on 6 July 2009

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

scientific article published on 08 January 2019

Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome

scientific article published on 08 November 2013

Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders

article

Early onset collagen VI myopathies: Genetic and clinical correlations

scientific article

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

scientific article published on 26 February 2018

Erratum: Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

scientific article

Etiology, prognosis and management of nuchal cystic hygroma: 25 new cases and literature review

scientific article

Evidence for a new X-linked mental retardation gene in Xp21-Xp22: clinical and molecular data in one family

scientific article

Exclusion of RAI2 as the causative gene for Nance-Horan syndrome

scientific article

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

scientific article published on 2 June 2009

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

scientific article published on 12 July 2018

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome

scientific article

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

scientific article

Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma

scientific article published on November 2002

Fetal fibrochondrogenesis at 26 weeks' gestation

scientific article

Finger creases lend a hand in Kabuki syndrome.

scientific article

Floating-Harbor Syndrome

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster

scientific article published on 07 October 2019

Further delineation of the KAT6B molecular and phenotypic spectrum

scientific article

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

scientific article

GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability

scientific article

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia

scientific article published on 3 April 2015

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients

scientific article published on 17 September 2019

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

scientific article published on 09 January 2013

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

scientific article published on 10 March 2017

Genetic basis of developmental dysphasia. Report of eleven familial cases in six families.

scientific article published in January 1994

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

scientific article

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

scientific article published on 10 April 2017

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies

scientific article published on 11 January 2012

Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.

scientific article

Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations

scientific article published in December 2009

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

scientific article

Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogénéticiens de langue Française'.

scientific article published on 7 February 2007

Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement

scientific article published on 01 February 2007

Glutamine synthetase is essential for proliferation of fetal skin fibroblasts

scientific article

Hereditary angioedema type III: an additional French pedigree with autosomal dominant transmission

scientific article published on 01 April 2001

Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation

scientific article published on 01 March 2000

Identification of CACNA1A large deletions in four patients with episodic ataxia

scientific article published on 25 July 2009

Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions

scientific article published on 07 January 2014

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series

scientific article published on 28 October 2009

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

scientific article published on 31 July 2019

Inborn error of amino acid synthesis: human glutamine synthetase deficiency

scientific article

Infectious and immunologic phenotype of MECP2 duplication syndrome

scientific article published on 27 February 2015

Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome

scientific article published in October 2000

Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features

scientific article

LIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual Disability

scientific article published on 27 December 2018

LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity

scientific article published in August 2009

Lack of Evidence for Connexin 43 Gene Mutations in Human Autosomal Recessive Lateralization Defects

article

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases

scientific article published on September 2015

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

scientific article published on 30 September 2015

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

scientific article

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

scientific article

Late onset stroke and myocardial infarction in Williams syndrome

scientific article published on 01 December 2006

Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?

scientific article published in January 1995

MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation

scientific article published in December 2003

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

scientific article

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

article

Menkes syndrome. An unusual pigmentation anomaly in a mother and three sisters

scientific article published in September 1992

Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families

scientific article published on August 1997

Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature

scientific article published on October 1998

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

scientific article published on 13 December 2017

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

article

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

article

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

scientific article

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

scientific article

Monosomy 6q: report on four new cases

scientific article

Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases

scientific article published on 01 November 2000

Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?

scientific article published on 01 May 2007

Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism

scientific article published on 11 September 2015

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature

scientific article published on 17 September 2018

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.

scientific article published on 10 April 2018

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway

scientific article published in July 2016

Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.

scientific article published on 03 September 2016

Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS.

scientific article published on 29 June 2016

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

scientific article published on 13 January 2016

Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

scientific article published on 14 September 2011

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

scientific article

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy

scientific article

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

scientific article published on 29 April 2012

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

scientific article

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

scientific article

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

scientific article published on February 2004

Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome

scientific article published in June 2004

Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region

scientific article published in February 1997

Neonatal onset of Menkes disease: diagnosis interest of cupremia and microscopic examination of the hairs

scientific article published on 24 July 2007

Neurofibromatosis type 1 complications in the pediatric age: follow-up of a hundred cases

scientific article published on 22 May 2006

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

scientific article

New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients

scientific article published on 07 June 2019

No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome

scientific article published on 01 April 2006

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

scientific article published on 03 May 2021

Opitz GBBB syndrome: chromosomal evidence of an X-linked form.

scientific article published in October 1995

Overgrowth syndromes - clinical and molecular aspects and tumour risk

scientific article published on 01 May 2019

PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

scientific article

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

article

Pentalogy of Cantrell: sonographic assessment

scientific article published in May 2007

Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up

scientific article published on September 2007

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

scientific article published on 27 November 2017

Phenotype and genotype in females with POU3F4 mutations

scientific article published in December 2009

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

scientific article published on 4 January 2018

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

scientific article published on 5 April 2021

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

scientific article

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes ⬇️

journal article from 'European Journal of Medical Genetics' published in 2018

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature

scientific article published on 18 April 2013

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

scientific article

Pregnancy outcome following in utero exposure to azathioprine: A French comparative observational study

scientific article published on 6 October 2017

Prenatal diagnosis of trisomy 8 mosaicism in CVS after abnormal ultrasound findings at 12 weeks

scientific article published on 01 August 1995

Prenatal findings in cardio-facio-cutaneous syndrome

scientific article published on 22 October 2015

Prenatal findings in carpenter syndrome and a novel mutation in RAB23

Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study

scientific article published on 06 May 2020

Pulmonary alveolar proteinosis revealing a telomerase disease

scientific article published in August 2013

Pure proximal deletion of chromosome 21 and kyphosis

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

scientific article published on 9 September 2011

RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes

scientific article published on 22 March 2016

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes

scientific article

Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.

scientific article

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

scientific article

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.

scientific article published in October 2004

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

scientific article published on 26 March 2014

Severe X-linked chondrodysplasia punctata in nine new female fetuses

scientific article published on 30 March 2015

Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening

scientific article published on 01 July 2000

Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia

scientific article published on 17 July 2012

Small patella syndrome: New clinical and molecular insights into a consistent phenotype

scientific article published in December 2017

Splenogonadal fusion limb defect syndrome: report of five new cases and review

scientific article

Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia

scientific article published in March 1996

Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome

scientific article published in April 2005

Systematic analysis of X-inactivation in 19XLMR families: extremely skewed profiles in carriers in three families

scientific article published in April 2000

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.

scientific article published on 18 March 2013

Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.

scientific article published on 18 August 2011

TCTN3 mutations cause Mohr-Majewski syndrome

scientific article

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

scientific article (publication date: 17 October 2012)

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

scientific article

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

scientific article published on 19 March 2015

Trisomy 7p: report of 2 patients and literature review.

scientific article

Twenty-five novel mutations including duplications in the ATP7A gene

scientific article published in March 2011

Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation

scientific article published in February 2001

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

scientific article published in 2021

Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.

scientific article

Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations

scientific article published on 11 October 2012

Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability

scientific article published on 30 June 2018

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome. Report of three male patients in a large French family

scientific article published on 01 January 1993

X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq.

scientific article published on January 1993

X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings

scientific article

X-linked mental retardation exhibiting linkage to DXS255 and PGKP1: a new MRX family (MRX14) with localization in the pericentromeric region.

scientific article published on March 1994

X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1.

scientific article published on 01 July 1996

X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium

scientific article published in July 1999

Xq27 FRAXA locus is a strong candidate for dyslexia: evidence from a genome-wide scan in French families

scientific article published on 11 January 2013

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

scientific article

[Cerebral lesions observed in a twin after the in utero death of the other twin. Fetal anoxia-ischemia can be the possible mechanism (3 cases)]

scientific article published on 01 June 1992

[Conduction defects and arrhythmias in peripheral myopathies]

scientific article published on 01 December 2004

[Congenital myasthenic syndromes in childhood: Drug therapeutic strategies]

scientific article published on 28 May 2015

[Ethical problems raised by the current French practice of therapeutic abortions. Part I: prospective study for 24 months at the University Hospital of Tours (76 cases)]

scientific article published on 01 January 1995

[Evaluation of the risk in autosomal dominant diseases]

scientific article published on 01 June 1988

[Genetic counseling in neurofibromatosis. Apropos of a study of 53 families]

scientific article published on 01 June 1988

[Palliative treatment of myopathies. Contribution of surgical treatments]

scientific article published on 01 April 1993

[Reinhardt-Pfeiffer mesomelic dysplasia or dyschondrosteosis? Is the distinction well-founded? Apropos of a familial case with variable expression]

scientific article published on 01 January 1991

[The obstetrician's responsibility as a member of a multidisciplinary prenatal diagnosis team]

scientific article published on 01 January 1994

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