E. Bieth

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A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

N. Romero, L. Pasquier, S. Mercier, 2021, Acta neuropathologica communications.

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia

P. Calvas, N. Chassaing, M. Holder-Espinasse, 2013, American journal of medical genetics. Part A.

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

J. Melki, S. Julia, R. Touraine, 2015, European Journal of Human Genetics.

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1

Hans H. Jung, C. Tilikete, M. Koenig, 2018, JAMA neurology.

Distal 10q monosomy: new evidence for a neurobehavioral condition?

L. Bouneau, S. Julia, P. Calvas, 2014, European journal of medical genetics.

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.

Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

A. Toutain, N. Philip, A. Verloes, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Medical, psychological and social features in a large cohort of adults with Prader-Willi syndrome: experience from a dedicated centre in France.

J. Jauregi, P. Copet, V. Laurier, 2015, Journal of intellectual disability research : JIDR.

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations

M. Desnos, C. Bonithon-Kopp, J. Thevenon, 2018, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling.

E. Bieth, R. Mieusset, L. Bujan, 2000, Fertility and sterility.

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements

F. Rivier, A. Destrée, C. Philippe, 2012, European Journal of Human Genetics.

New candidate loci identified by array‐CGH in a cohort of 100 children presenting with syndromic obesity

L. Bouneau, S. Julia, J. Toutain, 2014, American journal of medical genetics. Part A.

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

A. Toutain, P. Jouk, L. Faivre, 2010, Clinical Genetics.

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

V. Fraix, L. Kremer, M. Koenig, 2021, Genetics in Medicine.

Proteus syndrome: Report of a case with AKT1 mutation in a dental cyst.

C. Cancés, E. Bieth, M. Longy, 2015, European journal of medical genetics.

Searching for secondary findings: considering actionability and preserving the right not to know

A. Munnich, S. Julia, P. Calvas, 2019, European Journal of Human Genetics.

SMN1 gene study in three families in which ALS and spinal muscular atrophy co-exist

C. Andres, P. Corcia, P. Couratier, 2002, Neurology.

Growth Hormone, Insulin-Like Growth Factor-I and Insulin-Like Growth Factor Binding Protein-3 Are Regulated Differently in Small-for-Gestational-Age and Appropriate-for-Gestational-Age Neonates

H. Grandjean, E. Bieth, M. Rolland, 1998, Neonatology.

Hypophosphatasia may lead to bone fragility: don’t miss it

J. Salles, E. Bieth, C. Baunin, 2009, European Journal of Pediatrics.

A molecular approach to dominance in hypophosphatasia

J. Gibrat, A. Aylsworth, E. Bieth, 2001, Human Genetics.

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

C. Rooryck, D. Lacombe, E. Colin, 2014, The Journal of investigative dermatology.

Effect of Genotype and Previous GH Treatment on Adiposity in Adults With Prader-Willi Syndrome.

K. Clément, J. Oppert, L. Cuisset, 2016, The Journal of clinical endocrinology and metabolism.

Heterozygous mutation in the WSXWS equivalaent motif of the growth hormone receptor in a child with poor response to growth hormone therapy.

S. Amselem, E. Bieth, C. Molinas, 1998, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

[Prader-Willi syndrome in 2015].

D. Thuilleaux, M. Tauber, E. Bieth, 2015, Medecine sciences : M/S.

[Branchio-oculo-facial syndrome].

E. Bieth, F. Frascari, P. Galinier, 2012, Annales de dermatologie et de venereologie.

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

A. Munnich, C. Farra, A. Verloes, 2009, Journal of Medical Genetics.

Molecular analysis of Pericentrin gene (PCNT) in a series of 24 Seckel/ MOPD II families

A. Munnich, C. Farra, A. Verloes, 2009 .

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series

A. Toutain, L. Pasquier, L. Richard, 2019, Molecular genetics & genomic medicine.

Assessment of Aspergillus sensitization or persistent carriage as a factor in lung function impairment in cystic fibrosis patients

J. Fillaux, F. Brémont, E. Bieth, 2012, Scandinavian journal of infectious diseases.

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

J. Hardelin, Jacques Young, D. Lacombe, 2014, The Journal of clinical endocrinology and metabolism.

Alternative Splicing of In‐Frame Exon Associated with Premature Termination Codons: Implications for Readthrough Therapies

L. Galietta, E. Girodon, E. Bieth, 2013, Human mutation.

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

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

Chest pain in Brugada syndrome: Prevalence, correlations, and prognosis role

F. Sacher, M. Hocini, M. Haïssaguerre, 2020, Pacing and clinical electrophysiology : PACE.

[Branchio-oculo-facial syndrome].

E. Bieth, F. Frascari, P. Galinier, 2020, Annales de dermatologie et de vénéréologie.

Branchi-oculo-facial syndrome: a case report to highlight recent genetic considerations.

E. Bieth, P. Galinier, F. Vaysse, 2012, Journal of plastic, reconstructive & aesthetic surgery : JPRAS.

Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt‐oram and ulnar‐mammary syndromes

F. Escande, M. Vekemans, E. Bieth, 2013, American journal of medical genetics. Part A.

CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes

A. Kitzis, E. Girodon, T. Bienvenu, 2012, Human mutation.

Fifteen new mutations (‐195C>T, L‐12X, 298‐2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue‐nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia

R. Hennekam, F. Fellmann, E. Bieth, 2000, Human mutation.

The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counseling

P. Calvas, N. Chassaing, D. Chauveau, 2017, Journal of Nephrology.

Identification of a region critical for proteolysis of the human growth hormone receptor.

J. Salles, E. Bieth, M. Tauber, 2002, Biochemical and biophysical research communications.

Human growth hormone receptor: cloning and expression of the full-length complementary DNA after site-directed inactivation of a cryptic bacterial promoter.

G. Devauchelle, E. Bieth, C. Cahoreau, 1997, Gene.

Genetic counseling for cystic fibrosis: A basic model with new challenges.

J. Nectoux, E. Bieth, A. Girardet, 2020, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome

Olivier Tassy, P. Pennamen, C. Rooryck, 2022, American journal of medical genetics. Part A.

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

J. Melki, A. Toutain, T. Frebourg, 2007, European Journal of Human Genetics.

Genomic deletions of OFD1 account for 23% of oral‐facial‐digital type 1 syndrome after negative DNA sequencing

T. Frebourg, L. Faivre, C. Thauvin-Robinet, 2009, Human mutation.

A Cardio‐Neurological Form of Laminopathy: Dilated Cardiomyopathy with Permanent Partial Atrial Standstill and Axonal Neuropathy

P. Cintas, E. Bieth, P. Richard, 2009, Pacing and clinical electrophysiology : PACE.

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

Z. Tümer, P. Lapunzina, T. Ogata, 2022, Clinical Epigenetics.

Recurrent ovarian cyst and mutation of the Gsα gene in ovarian cyst fluid cells: what is the link with McCune‐Albright syndrome? *

C. Sultan, S. Lumbroso, E. Bieth, 1997, Acta paediatrica.

CFTR genotypes in patients with normal or borderline sweat chloride levels

C. Clavel, M. Claustres, C. Férec, 2003, Human mutation.

Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

J. Cavaille, C. Rooryck, J. Salles, 2014, European Journal of Human Genetics.

Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome

M. Tauber, C. Casper, E. Bieth, 2017, Orphanet Journal of Rare Diseases.

Pulmonary Alveolar Microlithiasis in Children Less than 5 Years of Age.

E. Bieth, S. Blanchon, M. Mittaine, 2019, The Journal of pediatrics.

Gingival Biopsy to Detect Mosaicism in Overgrowth Syndromes: Report of Two Cases of Megalencephaly-Capillary Malformation Syndrome with Periodontal Anomalies

E. Bieth, M. Longy, I. Bailleul-Forestier, 2020, Case reports in dentistry.

Fibroblast Growth Factor Receptor 3 Epidermal Naevus Syndrome with Urothelial Mosaicism for the Activating p.Ser249Cys FGFR3 Mutation.

V. Gaston, E. Bieth, D. Bessis, 2017, Acta dermato-venereologica.

Complete nucleotide sequence of a highly infectious avian leukosis virus.

J. Darlix, E. Bieth, 1992, Nucleic Acids Research.

[Van der Woude syndrome: An unrecognised clinical entity].

E. Bieth, P. Galinier, F. Vaysse, 2014, Annales de chirurgie plastique et esthetique.

Expression of a recombinant human growth hormone binding protein in baculovirus/insect cell system.

G. Devauchelle, E. Bieth, C. Cahoreau, 1996, Biochimie.

Pure seminoma in a male phenotype 46,XX true hermaphrodite.

E. Bieth, B. Malavaud, C. Chevreau, 2000, The Journal of urology.

Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens.

N. Chassaing, V. Gaston, E. Bieth, 2016, American journal of human genetics.

Genetics of the congenital absence of the vas deferens

E. Bieth, R. Mieusset, S. Hamdi, 2020, Human Genetics.

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

C. Clavel, M. Claustres, C. Férec, 2000, Human mutation.

Genetics of the congenital absence of the vas deferens

E. Bieth, R. Mieusset, S. Hamdi, 2020, Human Genetics.

Novel ADGRG2 truncating variants in patients with X‐linked congenital absence of vas deferens

E. Girodon, T. Bienvenu, E. Bieth, 2019, Andrology.

Male partners of infertile couples with congenital unilateral absence of the vas deferens are mainly non‐azoospermic

E. Bieth, É. Huyghe, R. Mieusset, 2019, Andrology.

CFTR‐France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants

P. Fergelot, M. Claustres, A. Kitzis, 2017, Human mutation.

A new large CFTR rearrangement illustrates the importance of searching for complex alleles

P. Ruszniewski, E. Girodon, I. Sermet, 2006, Human mutation.

A study of the dimer formation of Rous sarcoma virus RNA and of its effect on viral protein synthesis in vitro

Eric Bieth, Caroline Gabus, Jean-Luc Darlix, 1990, Nucleic Acids Res..

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

A. Munnich, C. Fallet-Bianco, I. Gut, 2021, Journal of Medical Genetics.

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

Thomas Bourgeron, Fabien Fauchereau, Christopher Gillberg, 2007, Nature Genetics.

SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort

A. Afenjar, E. Pasmant, M. Vidaud, 2016, Journal of Medical Genetics.

Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: a cytogenetic pitfall.

V. Biancalana, O. Caron, G. Rudolf, 2008, European journal of medical genetics.

Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy‐like phenotype

S. Julia, P. Calvas, N. Chassaing, 2004, American journal of medical genetics. Part A.

Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome

S. Julia, P. Calvas, N. Chassaing, 2002, Journal of medical genetics.

Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.

J. Gécz, Y. Humeau, P. Billuart, 2015, Human molecular genetics.

Genotype–phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD–DMD database: a model of nationwide knowledgebase

Christophe Béroud, Jamel Chelly, Mireille Claustres, 2009, Human mutation.

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

P. Fergelot, M. Tartaglia, G. Merla, 2022, International journal of molecular sciences.

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations

X. Estivill, P. Talmud, D. Labuda, 2007, Journal of Medical Genetics.

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

A. Munnich, A. Saiardi, N. Boddaert, 2020, Nature Communications.

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

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

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

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients

J. Lupski, L. Vallée, J. Andrieux, 2008, American journal of medical genetics. Part A.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Justyna A. Karolak, H. Mefford, W. Chung, 2019, American journal of human genetics.

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

Dian Donnai, Graeme C.M. Black, Nicolas Chassaing, 2007, Nature Genetics.

CDKL5 MUTATIONS IN BOYS WITH SEVERE ENCEPHALOPATHY AND EARLY-ONSET INTRACTABLE EPILEPSY

J. Chelly, B. Girard, J. Nectoux, 2009, Neurology.

Multi-physiopathological consequences of the c.1392G>T CFTR mutation revealed by clinical and cellular investigations.

A. Kitzis, I. Sermet-Gaudelus, E. Bieth, 2014, Biochemistry and cell biology = Biochimie et biologie cellulaire.

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.

P. Fergelot, M. Claustres, A. Kitzis, 2022, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

Corinne Antignac, Raymonde Bouvier, O. Gribouval, 2005, Nature Genetics.

A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice.

M. Claustres, R. Epaud, E. Girodon, 2011, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

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

G. Mortier, A. Toutain, M. Cossée, 2005, Journal of Medical Genetics.

SNORD116 and growth hormone therapy impact IGFBP7 in Prader–Willi syndrome

J. Salles, B. Skryabin, M. Tauber, 2021, Genetics in Medicine.

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre

F. Rivier, B. Echenne, M. Cossée, 2004, Neuromuscular Disorders.

Insights into genotype–phenotype correlations in spinal muscular atrophy: A retrospective study of 103 patients

L. Vallée, E. Bieth, J. Cuisset, 2011, Muscle & nerve.

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

R. Porcher, É. Marijon, A. Lazarus, 2019, Circulation.

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.

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.

M. Koenig, F. Rivier, M. Cossée, 2018, The Journal of molecular diagnostics : JMD.

Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of "polyvalvular heart disease syndrome" or new association?

H. Cavé, A. Verloes, M. Tauber, 2010, European journal of medical genetics.

Patients with PWS and related syndromes display differentially methylated regions involved in neurodevelopmental and nutritional trajectory

V. Laurier, J. Salles, M. Tauber, 2021, Clinical epigenetics.

Erratum: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (American Journal of Human Genetics (2017) 100(2) (352–363) (S0002929717300034) (10.1016/j.ajhg.2017.01.003))

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017 .

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

Y. Paulignan, T. Nazir, N. Hadjikhani, 2016, PLoS ONE.

Searching for secondary findings: considering actionability and preserving the right not to know

A. Munnich, S. Julia, P. Calvas, 2019, European Journal of Human Genetics.

Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation.

M. Koenig, M. Claustres, E. Bieth, 2017, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Evaluation of Cutaneous Modifications in Seventy-Seven Growth Hormone-Deficient Children

V. Turlier, S. Diridollou, Y. Gall, 2000, Hormone Research in Paediatrics.

A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis

M. Koenig, M. Claustres, E. Bieth, 2018, Fetal Diagnosis and Therapy.

Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants

A. Toutain, P. Calvas, B. Gilbert-Dussardier, 2019, Journal of the Neurological Sciences.

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

N. Drouot, A. Durr, M. Koenig, 2013, Orphanet Journal of Rare Diseases.

Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study

F. Giuliano, P. Cintas, S. Quijano-roy, 2019, Neuromuscular Disorders.

Lethal form of keratitis-ichthyosis-deafness syndrome caused by the GJB2 mutation p.Ser17Phe.

C. Chiaverini, E. Bieth, N. Cardot-Leccia, 2014, Acta dermato-venereologica.

Twenty‐five novel mutations including duplications in the ATP7A gene

A. Toutain, S. Blesson, C. Moraine, 2011, Clinical genetics.

Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients

N. Biteau, M. Claustres, D. Lacombe, 2002, Journal of medical genetics.

[Genetic counseling in cystic fibrosis].

S. Julia, E. Bieth, 2000, Revue des maladies respiratoires.

Naevoid acanthosis nigricans or RAVEN (rounded and velvety epidermal naevus) and mosaic FGFR3 and FGFR2 mutations

J. Solassol, J. Selves, E. Bieth, 2019, The British journal of dermatology.

Donnai‐Barrow syndrome: Four additional patients

P. Calvas, N. Chassaing, D. Lacombe, 2003, American journal of medical genetics. Part A.

Consequences of partial duplications of the human CFTR gene on cf diagnosis: mutations or ectopic variations.

A. Kitzis, M. Audrézet, E. Bieth, 2012, Journal of Cystic Fibrosis.

CFTR Rearrangements in Spanish Cystic Fibrosis Patients: First New Duplication (35kb) Characterised in the Mediterranean Countries

L. Armengol, T. Casals, Laia Masvidal, 2010, Annals of human genetics.

New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient

B. Acket, F. Sturtz, E. Bieth, 2019, Molecular genetics & genomic medicine.

A Reliable Targeted Next-Generation 75 76 Sequencing Strategy for Diagnosis of Myopathies

M. Koenig, F. Rivier, M. Cossée, 2018 .

Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters.

N. Thierry-Mieg, P. Ray, E. Bieth, 2023, Journal of genetics and genomics = Yi chuan xue bao.

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

C. Rooryck, D. Lacombe, E. Colin, 2014, The Journal of investigative dermatology.

Twenty‐five novel mutations including duplications in the ATP7A gene

S. Blesson, C. Moraine, E. Bieth, 2011, Clinical genetics.

Molecular mechanisms of perilipin protein function in lipid droplet metabolism

E. Bieth, A. Čopič, Elena Griseti, 2023, FEBS letters.