B. Bessières

发表

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

A. Munnich, A. Mégarbané, F. Clerget-Darpoux, 2015, American journal of human genetics.

Placental elastography in a murine intrauterine growth restriction model

J. Gennisson, N. Siauve, B. Deloison, 2015, Prenatal diagnosis.

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

G. Captier, H. Kayserili, M. Vezain, 2018, American journal of medical genetics. Part A.

Protein expression of angiotensin‐converting enzyme 2, a SARS‐CoV‐2‐specific receptor, in fetal and placental tissues throughout gestation: new insight for perinatal counseling

Y. Ville, M. Leruez-Ville, B. Bessières, 2021, Ultrasound in Obstetrics & Gynecology.

Anatomical and timely assessment of protein expression of angiotensin-converting enzyme 2, SARS-CoV-2 specific receptor, in fetal and placental tissues: new insight for perinatal counseling.

Y. Ville, M. Leruez-Ville, B. Bessières, 2020, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.

E. Denamur, A. Laquérriere, H. Le Nagard, 2010, Kidney international.

Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome.

Y. Ville, D. Lev, N. Boddaert, 2018, European journal of medical genetics.

Minimally invasive fetal autopsy using ultrasound: a feasibility study

J. Jani, M. Condorelli, B. Bessières, 2018, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

J. Sahel, N. Boddaert, S. Lyonnet, 2017, American journal of human genetics.

Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene

Y. Ville, C. Bole-Feysot, J. Rendu, 2020, Clinical genetics.

Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf–Hirschhorn syndrome phenotype

C. Fallet-Bianco, M. Portnoï, M. Beaujard, 2005, Prenatal diagnosis.

Early neonatal death and congenital left coronary abnormalities: ostial atresia, stenosis and anomalous aortic origin.

J. Magny, Y. Boudjemline, D. Bonnet, 2013, Archives of cardiovascular diseases.

Inner ear lesions in congenital cytomegalovirus infection of human fetuses

J. Oury, P. Gressens, H. Adle-Biassette, 2011, Acta Neuropathologica.

Postmortem examination of human fetal hearts at or below 20 weeks' gestation: a comparison of high‐field MRI at 9.4 T with lower‐field MRI magnets and stereomicroscopic autopsy

M. Verhoye, J. de Mey, Y. Fierens, 2012, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Stress-induced unfolded protein response contributes to Zika virus–associated microcephaly

L. Nguyen, P. Vanderhaeghen, M. Thiry, 2017, Nature Neuroscience.

Fetal MRI findings in a retrospective cohort of 26 cases of prenatally diagnosed CHARGE syndrome individuals

N. Boddaert, P. Sonigo, L. Salomon, 2019, Prenatal diagnosis.

Pulmonary Hypoplasia Associated with Congenital Heart Diseases: A Fetal Study

C. Delacourt, D. Bonnet, B. Bessières, 2014, PloS one.

Discordances Between Pre-Natal and Post-Natal Diagnoses of Congenital Heart Diseases and Impact on Care Strategies.

Y. Boudjemline, D. Bonnet, J. Le Bidois, 2016, Journal of the American College of Cardiology.

Perinatal‐lethal Gaucher disease

P. Josset, J. Roume, A. Gelot, 2003, American journal of medical genetics. Part A.

Congenitally corrected transposition of the great arteries: is it really a transposition? An anatomical study of the right ventricular septal surface

D. Bonnet, S. Hascoët, M. Mostefa Kara, 2019, Journal of anatomy.

Origin of congenital coronary arterio-ventricular fistulae from anomalous epicardial and myocardial development

D. Gómez-Cabrero, J. L. de la Pompa, D. MacGrogan, 2022, bioRxiv.

Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations.

Y. Ville, J. Bernard, M. Vekemans, 2017, Birth defects research.

Adaptive and Innate Immune Cells in Fetal Human Cytomegalovirus-Infected Brains

Y. Ville, F. Encha-Razavi, J. Stirnemann, 2020, Microorganisms.

Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.

Y. Ville, A. Laquérriere, A. Verloes, 2012, European journal of medical genetics.

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.

Fetoscopic patch coverage of experimental myelomenigocele using a two-port access in fetal sheep

C. Fallet-Bianco, F. Dhombres, F. Di Rocco, 2017, Child's Nervous System.

A clinical and histopathological study of malformations observed in fetuses infected by the Zika virus

L. Nguyen, Y. Ville, M. Thiry, 2018, Brain pathology.

TCTN3 mutations cause Mohr-Majewski syndrome.

Colin A. Johnson, A. Munnich, Y. Ville, 2012, American journal of human genetics.

Developmental Renal Glomerular Defects at the Origin of Glomerulocystic Disease.

M. Pontoglio, S. Garbay, M. Gubler, 2020, Cell reports.

Y. Ville, M. Leruez-Ville, B. Bessières, 2021, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

First fetal case of the 8q24.3 contiguous genes syndrome

Y. Ville, S. Romana, M. Vekemans, 2016, American journal of medical genetics. Part A.

Fetal phenotypes in otopalatodigital spectrum disorders

P. Fergelot, J. Melki, A. Verloes, 2016, Clinical genetics.

Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes

Y. Ville, S. Saunier, M. Gubler, 2021, Pediatric Nephrology.

Collagen α5 and α2(IV) chain coexpression: Analysis of skin biopsies of Alport patients

B. Knebelmann, M. Garfa, L. Noël, 2007 .

Pathological and sonographic review of early isolated severe lower urinary tract obstruction and implications for prenatal treatment

Y. Ville, T. Attié-Bitach, T. Blanc, 2021, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Biometric and morphological features on magnetic resonance imaging of fetal bladder in lower urinary tract obstruction: new perspectives for fetal cystoscopy

Y. Ville, N. Boddaert, P. Sonigo, 2020 .

Biometric and morphological features of the fetal bladder in lower urinary tract obstruction on magnetic resonance imaging: new perspectives for fetal cystoscopy.

Y. Ville, N. Boddaert, P. Sonigo, 2019, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency

R. Veitia, A. Benachi, G. Livera, 2017, eLife.

[Neonatal lupus syndrome: Literature review].

N. Costedoat-Chalumeau, V. Guern, N. Morel, 2015, La Revue de medecine interne.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

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

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).

C. Fallet-Bianco, C. Ricketts, R. Trembath, 2010, American journal of human genetics.

Central nervous system malformations and deformations in FGFR2‐related craniosynostosis

C. Fallet-Bianco, R. Khonsari, C. Collet, 2012, American journal of medical genetics. Part A.

SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects

Y. Ville, V. Tsatsaris, F. Encha-Razavi, 2019, Prenatal diagnosis.

A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test

Y. Ville, L. Salomon, J. Bernard, 2016, Cytogenetic and Genome Research.

Corpus Callosum Abnormalities and Short Femurs in Beckwith–Wiedemann Syndrome: A Report of Two Fetal Cases

A. Gelot, M. Vekemans, T. Attié-Bitach, 2018, Fetal and pediatric pathology.

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations

C. Fallet-Bianco, Y. Ville, B. Gilbert-Dussardier, 2012, Journal of Medical Genetics.

A hierarchical analysis of transcriptome alterations in intrauterine growth restriction (IUGR) reveals common pathophysiological pathways in mammals

M. Gamerre, U. Simeoni, Daniel Vaiman, 2007, The Journal of pathology.

Successful Treatment of a Severe Second Trimester Fetomaternal Hemorrhage by Repeated Fetal Intravascular Transfusions

F. Daffos, B. Bessières, V. Mirlesse, 2009, Fetal Diagnosis and Therapy.

Human cytomegalovirus infection is associated with increased expression of the lissencephaly gene PAFAH1B1 encoding LIS1 in neural stem cells and congenitally infected brains

D. Gonzalez-Dunia, M. Leruez-Ville, B. Bessières, 2021, The Journal of pathology.

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome

L. Pasquier, L. Faivre, S. Blesson, 2016, Clinical genetics.

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

C. Fallet-Bianco, B. Lhermitte, A. Laquérriere, 2014, Acta neuropathologica communications.

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

C. Fallet-Bianco, D. Figarella-Branger, A. Laquérriere, 2012, Brain : a journal of neurology.

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients

G. Captier, M. Vezain, J. Roume, 2022, American journal of medical genetics. Part A.

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

C. Fallet-Bianco, F. Artiguenave, F. Rivier, 2015, European Journal of Human Genetics.

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria

P. Sonigo, A. Benachi, N. Lebrun, 2013, neurogenetics.

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases

N. Drouot, C. Fallet-Bianco, P. Gressens, 2013, Acta Neuropathologica.

Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy

F. Puppo, F. Magdinier, G. Butler-Browne, 2015, Annals of neurology.

A genome-wide approach reveals novel imprinted genes expressed in the human placenta

Amélie C Pinard, A. Barlier, U. Simeoni, 2012, Epigenetics.

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renalhepatic-pancreatic dysplasia.

C. Antignac, S. Saunier, M. Gubler, 2020 .

Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.

C. Antignac, S. Saunier, M. Gubler, 2020, Kidney international.

Re-evaluation of the role of STOX1 transcription factor in placental development and preeclampsia.

Daniel Vaiman, F. Mondon, S. Barbaux, 2009, Journal of reproductive immunology.

Fetal Cystoscopy and Vesicoamniotic Shunting in Lower Urinary Tract Obstruction: Long-Term Outcome and Current Technical Limitations

Y. Ville, R. Salomon, L. Salomon, 2019, Fetal Diagnosis and Therapy.

Severe and progressive neuronal loss in myelomeningocele begins before 16 weeks of pregnancy.

Y. Ville, F. Causeret, H. Adle-Biassette, 2020, American journal of obstetrics and gynecology.

Feasibility and Added Value of Fetal DTI Tractography in the Evaluation of an Isolated Short Corpus Callosum: Preliminary Results

N. Boddaert, P. Sonigo, I. Desguerre, 2021, American Journal of Neuroradiology.

Fetal MRI compared with ultrasound for the diagnosis of obstructive genital malformations

Y. Ville, N. Boddaert, P. Sonigo, 2017, Prenatal diagnosis.

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.

Y. Ville, P. Sonigo, M. Vekemans, 2016, Birth defects research. Part A, Clinical and molecular teratology.

Fowler syndrome—A clinical, radiological, and pathological study of 14 cases

C. Fallet-Bianco, T. Marton, C. Patel, 2010, American journal of medical genetics. Part A.

PPARγ Is Activated during Congenital Cytomegalovirus Infection and Inhibits Neuronogenesis from Human Neural Stem Cells

M. Peschanski, M. Luo, D. Gonzalez-Dunia, 2016, PLoS pathogens.

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies

Y. Ville, N. Boddaert, P. Nitschké, 2018, American journal of medical genetics. Part A.

Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1

J. Nectoux, J. Dupont, J. Amiel, 2022, Birth defects research.

Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases

S. Saunier, C. Bénéteau, C. Jeanpierre, 2022, Human mutation.

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

I. Gut, M. Bayés, J. Melki, 2014, Human molecular genetics.

Fluorescence in situ hybridization (FISH) rather than ultrasound for the evaluation of fetuses at risk for 22q11.2 deletion

S. Romana, J. Martinovic, D. Bonnet, 2003, Prenatal diagnosis.

Fetal organ weight estimation by postmortem high‐field magnetic resonance imaging before 20 weeks' gestation

M. Verhoye, J. Jani, B. Bessières, 2012, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Two-Port Fetoscopic Repair of Myelomeningocele in Fetal Lambs

F. Dhombres, R. Vialle, F. Di Rocco, 2018, Fetal Diagnosis and Therapy.

Disseminated congenital toxoplasma infection with a type II strain.

J. Magny, F. Kieffer, B. Bessières, 2011, The Pediatric Infectious Disease Journal.

Morphological and genetic causes of fetal cardiomyopathies

C. Rooryck, P. Richard, T. Attié-Bitach, 2023, Clinical genetics.