F. Guimiot

发表

Application of a new molecular technique for the genetic evaluation of products of conception

F. Vialard, G. Simoni, A. Aboura, 2013, Prenatal diagnosis.

Identification of a novel brain‐specific and reelin‐regulated gene that encodes a protein colocalized with synapsin

Michel Simonneau, N. Ramoz, A. Goffinet, 2004, The European journal of neuroscience.

MASH-1/RET pathway involvement in development of brain stem control of respiratory frequency in newborn mice.

J. Gallego, M. Simonneau, C. Gaultier, 2001, Physiological genomics.

Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome.

A. Aboura, C. Dupont, F. Guimiot, 2012, European journal of medical genetics.

Human neuropathology confirms projection neuron and interneuron defects and delayed oligodendrocyte production and maturation in FOXG1 syndrome.

A. Laquérriere, N. Bahi-Buisson, J. Martinovic, 2021, European journal of medical genetics.

Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene

A. Laquérriere, T. Frebourg, F. Lecoquierre, 2017, Acta Neuropathologica Communications.

Comparison between magnetic resonance imaging and fetopathology in the evaluation of fetal posterior fossa non‐cystic abnormalities

C. Garel, B. Tilea, F. Guimiot, 2007, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

GnRH receptor mutations in isolated gonadotropic deficiency

F. Guimiot, L. Chevrier, N. Roux, 2011, Molecular and Cellular Endocrinology.

Feasibility of a fetal anatomy 3D atlas by computer-assisted anatomic dissection.

J. Chevallier, F. Guimiot, S. El Batti, 2020, Journal of gynecology obstetrics and human reproduction.

Three-Dimensional Modelization of the Female Human Inferior Hypogastric Plexus: Implications for Nerve-Sparing Radical Hysterectomy

A. Bats, C. Ngô, M. Gosset, 2018, Gynecologic and Obstetric Investigation.

Sostdc1 is expressed in all major compartments of developing and adult mammalian eyes

F. Mascarelli, F. Behar-Cohen, L. Jonet, 2019, Graefe's Archive for Clinical and Experimental Ophthalmology.

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

D. Sillence, A. Munnich, J. Melki, 2009, European Journal of Human Genetics.

CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

P. Gressens, P. Milani, A. Afenjar, 2020, Journal of Medical Genetics.

Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations

L. Mandelbrot, F. Guimiot, C. Dubourg, 2021, Clinical case reports.

Sequential fetal serum β2‐microglobulin to predict postnatal renal function in bilateral or low urinary tract obstruction

Y. Ville, J. Oury, R. Favre, 2017, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Ultrasound detection of eyelashes: a clue for prenatal diagnosis of Cornelia de Lange syndrome

J. Oury, F. Guimiot, F. Muller, 2013, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

M. Holder-Espinasse, A. Verloes, M. Carella, 2014, European Journal of Human Genetics.

Potential Role of Glucocorticoid Signaling in the Formation of Pancreatic Islets in the Human Fetus

P. Czernichow, V. Lelièvre, F. Guimiot, 2008, Pediatric Research.

PHOX2B Immunostaining

M. Peuchmaur, F. Guimiot, D. Berrebi, 2020, The American journal of surgical pathology.

mRNA expression of MDR1 and major metabolising enzymes in human fetal tissues.

F. Guimiot, M. Fakhoury, Y. Médard, 2009, Drug metabolism and pharmacokinetics.

Diffusion‐weighted magnetic resonance imaging of the fetal brain in intrauterine growth restriction

M. Elmaleh, G. Sebag, M. Alison, 2017, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Giant diencephalic harmartoma and related anomalies: A newly recognized entity distinct from the Pallister–Hall syndrome

C. Garel, J. Oury, V. Drouin‐Garraud, 2009, American journal of medical genetics. Part A.

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions.

C. Fallet-Bianco, J. Hardelin, C. Dodé, 2010, The Journal of clinical investigation.

Fetal serum α‐1 microglobulin for renal function assessment: comparison with β2‐microglobulin and cystatin C

V. Tsatsaris, F. Guimiot, F. Muller, 2013, Prenatal diagnosis.

Pre‐ and postnatal phenotype of 6p25 deletions involving the FOXC1 gene

P. Gressens, A. Verloes, J. Elion, 2012, American journal of medical genetics. Part A.

Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells

I. Legall, M. Santha, A. Zvara, 2004, European Journal of Human Genetics.

Negative fetal FSH/LH regulation in late pregnancy is associated with declined kisspeptin/KISS1R expression in the tuberal hypothalamus.

A. Caraty, N. de Roux, F. Guimiot, 2012, The Journal of clinical endocrinology and metabolism.

Management strategy in pregnancies with elevated second-trimester maternal serum alpha-fetoprotein based on a second assay.

F. Guimiot, F. Muller, T. Schmitz, 2013, American journal of obstetrics and gynecology.

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome

A. Verloes, C. Baumann, J. Dupont, 2017, American journal of medical genetics. Part A.

CAMSAPs organize an acentrosomal microtubule network from basal varicosities in radial glial cells

J. Brault, V. Fraisier, A. Baffet, 2021, The Journal of cell biology.

A dendritic-like microtubule network is organized from swellings of the basal fiber in neural progenitors

J. Brault, V. Fraisier, A. Baffet, 2020, bioRxiv.

Sodium/iodide symporter (NIS) gene expression is the limiting step for the onset of thyroid function in the human fetus.

M. Polak, S. Michiels, J. Bidart, 2007, The Journal of clinical endocrinology and metabolism.

Study of Human T21 Placenta Suggests a Potential Role of Mesenchymal Spondin-2 in Placental Vascular Development.

J. Guibourdenche, G. Pidoux, F. Guimiot, 2019, Endocrinology.

Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases

A. Laquérriere, A. Verloes, T. Frebourg, 2016, Prenatal diagnosis.

Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype–phenotype correlation

A. Verloes, L. Pasquier, P. Marcorelles, 2014, American journal of medical genetics. Part A.

Decision-making based on sFlt-1/PlGF ratios: are immunoassay results interchangeable for diagnosis or prognosis of preeclampsia?

J. Guibourdenche, F. Guimiot, A. Hertig, 2020, Clinical chemistry and laboratory medicine.

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome

C. Baumann, A. Aboura, B. Benzacken, 2013, American journal of medical genetics. Part A.

Dysregulation of the NRG1-ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

T. Molina, H. Smeets, R. Hofstra, 2021, The Journal of clinical investigation.

Fetal obstructive uropathy complicated by urinary ascites: outcome and prognostic value of fetal serum β‐2‐microglobulin

Y. Ville, R. Favre, F. Guimiot, 2013, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

How to Explore Fetal Sacral Agenesis Without Open Dysraphism: Key Prenatal Imaging and Clinical Implications

A. Benachi, N. Mottet, F. Guimiot, 2018, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

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

Single-Cell Transcriptomic Analyses of the Developing Meninges Reveal Meningeal Fibroblast Diversity and Function.

Kenneth L. Jones, J. Siegenthaler, R. O'Rourke, 2020, Developmental cell.

Molecular cloning and expression pattern of the Fkbp25 gene during cerebral cortical neurogenesis.

A. Galat, M. Simonneau, F. Guimiot, 2005, Gene expression patterns : GEP.

Dynamic Expression Patterns of Progenitor and Neuron Layer Markers in the Developing Human Dentate Gyrus and Fimbria

C. Verney, P. Gressens, H. Adle-Biassette, 2015, Cerebral cortex.

Dynamic Expression Patterns of Progenitor and Pyramidal Neuron Layer Markers in the Developing Human Hippocampus.

C. Verney, P. Gressens, H. Adle-Biassette, 2016, Cerebral cortex.

Dynamics of thymus-colonizing cells during human development.

M. Cavazzana‐Calvo, N. Setterblad, F. Pflumio, 2006, Immunity.

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 cell fate decision map reveals abundant direct neurogenesis in the human developing neocortex

V. Fraisier, A. Baffet, T. Attié-Bitach, 2022, bioRxiv.

Prenatal phenotype of congenital hyperparathyroidism

F. Guimiot, Y. Capri, A. Delezoide, 2012, Prenatal diagnosis.

Neural tube defects cannot be diagnosed prenatally by electrophoresis of amniotic fluid transferrin isoforms.

J. Guibourdenche, F. Ménez, F. Guimiot, 2006, Clinical chemistry.

Comment on Immunoassays Developed for Pregnancy-Associated Plasma Protein-A (PAPP-A) in Pregnancy May Not Recognize PAPP-A in Acute Coronary Syndromes

J. Guibourdenche, F. Ménez, F. Guimiot, 2006 .

Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes

B. Gilbert-Dussardier, K. Chennen, O. Poch, 2019, 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.

Reply to Pubpeer anonymous contributors: incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

L. E. El Khattabi, A. Delahaye-Duriez, F. Guimiot, 2022, European Journal of Human Genetics.

EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder

P. Gressens, A. Verloes, N. Marziliano, 2018, Clinical genetics.

Abnormal muscle development of the diaphragm in a fetus with 2p14–p16 duplication

J. Oury, A. Verloes, A. Aboura, 2009, American journal of medical genetics. Part A.

Studies in an Early Development Window Unveils a Severe HSC Defect in both Murine and Human Fanconi Anemia

J. Soulier, M. Pla, P. de la Grange, 2018, Stem cell reports.

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.

C. Fallet-Bianco, S. Gazal, A. Laquérriere, 2012, American journal of human genetics.

Biochemical analysis of ascites fluid as an aid to etiological diagnosis: a series of 100 cases of nonimmune fetal ascites

R. Favre, L. Salomon, F. Guimiot, 2015, Prenatal diagnosis.

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

M. Gut, I. Gut, J. Melki, 2016, American journal of human genetics.

Early neuronal and glial determination from mouse E10.5 telencephalon embryonic stem cells: an in vitro study

M. Simonneau, F. Guimiot, M. Khelfaoui, 2002, Neuroreport.

Ultrasound detection of hyaloid artery in the third trimester of pregnancy: a pathological finding

J. Oury, C. Baumann, C. Dupont, 2012, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Fetal urine biochemistry at 13–23 weeks of gestation in lower urinary tract obstruction: criteria for in‐utero treatment

Y. Ville, R. Favre, G. Chalouhi, 2015, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Specific biochemical amniotic fluid pattern of fetal isolated esophageal atresia

J. Oury, L. Salomon, F. Guimiot, 2013, Pediatric Research.

3D position of pericentromeric heterochromatin within the nucleus of a patient with ICF syndrome

C. Baumann, D. Le Tessier, C. Baumann, 2012, Clinical Genetics.

3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome

B. Gérard, D. Le Tessier, J. Dupont, 2014, Molecular Cytogenetics.

Distinct Subsets of Multi-Lymphoid Progenitors Support Ontogeny-Related Changes in Human Lymphopoiesis

Thomas A. Darde, A. Cumano, F. Jouen, 2022, bioRxiv.

Think of the Conus Medullaris at the Time of Diagnosis of Fetal Sacral Agenesis

A. Benachi, N. Mottet, J. Martinovic, 2016, Fetal Diagnosis and Therapy.

CD4+CD8+ T-Lymphocytes in Xenogeneic and Human Graft-versus-Host Disease

N. Setterblad, G. Socié, F. Guimiot, 2020, Frontiers in Immunology.

Identification and isolation of a full-length clone of mouse GMFB (Gmfb), a putative intracellular kinase regulator, differentially expressed in telencephalon

A. Bulfone, M. Simonneau, F. Guimiot, 2001, Cytogenetic and Genome Research.

Animal Cytogenetics and Comparative Mapping

A. Bulfone, F. Guimiot, F. Bourgeois, 2001 .

Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2

P. Bruneval, B. Loeys, J. Albuisson, 2018, Molecular Syndromology.

Molecular heterogeneity in fetal forms of type II lissencephaly

M Joubert, C. Fallet-Bianco, D. Figarella-Branger, 2007, Human mutation.

Positive allosteric modulators of AMPA receptors are neuroprotective against lesions induced by an NMDA agonist in neonatal mouse brain

P. Gressens, M. Spedding, Claire-Marie Rangon, 2003, Brain Research.

Correlation between Colored Doppler Echography of Fetal Thyroid Goiters and Histologic Study

D. Luton, J. Oury, F. Guimiot, 2010, Fetal Diagnosis and Therapy.

Safety study of Ciprofloxacin in newborn mice.

B. Matrot, J. Gallego, H. Adle-Biassette, 2016, Regulatory toxicology and pharmacology : RTP.

Cloaca in Discordant Monoamniotic Twins: Prenatal Diagnosis and Consequence for Fetal Lung Development

J. Oury, F. Guimiot, F. Muller, 2014, American Journal of Perinatology Reports.

Somatostatin receptors type 2 and 5 expression and localization during human pituitary development.

P. Gressens, S. Peineau, S. Schulz, 2014, Endocrinology.

Evidence of disrupted rhombic lip development in the pathogenesis of Dandy–Walker malformation

I. Glass, K. Millen, K. Aldinger, 2021, Acta Neuropathologica.

Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms

William B Dobyns, Parthiv Haldipur, K. Millen, 2017, eLife.

Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses

C. Dupont, F. Guimiot, S. Khung-Savatovsky, 2018, American journal of medical genetics. Part A.

Tonate Virus and Fetal Abnormalities, French Guiana, 2019

D. Rousset, L. Pomar, F. Guimiot, 2022, Emerging infectious diseases.

Very early twin-to-twin transfusion syndrome and discordant activation of the renin-angiotensin system.

M. Gubler, F. Guimiot, M. Dommergues, 2009, Placenta.

TRAP Sequence in Monochorionic/Monoamniotic (MC/MA) Discordant Twins: Two Cases Treated with Fetoscopic Laser Surgery

F. Prefumo, F. Guimiot, G. Tonni, 2018, Fetal and pediatric pathology.

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

I Scala, Alain Verloes, M. Elmaleh, 2009, Neurology.

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

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

Prenatal diagnosis of inherited epidermolysis bullosa in a patient with no family history: a case report and literature review

F. Guimiot, F. Muller, G. Meneguzzi, 2006, Prenatal diagnosis.

Contribution of Diffusion-Weighted Imaging in the Evaluation of Diffuse White Matter Ischemic Lesions in Fetuses: Correlations with Fetopathologic Findings

C. Fallet-Bianco, C. Garel, J. Oury, 2008, American Journal of Neuroradiology.

Placental Findings and Effect of Prophylactic Hydrocortisone in Extremely Preterm Infants

D. Mohamed, O. Baud, C. Alberti, 2018, Pediatrics.

A cellular atlas of the developing meninges reveals meningeal fibroblast diversity and function

Kenneth L. Jones, J. Siegenthaler, Hannah E. Jones, 2019, bioRxiv.

Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis

C. Dupont, F. Guimiot, S. Khung-Savatovsky, 2013, American Journal of Medical Genetics. Part A.

Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy.

J. Oury, M. Alison, C. Baumann, 2013, European journal of medical genetics.

Quantitative evaluation of collagen type VI and SOD gene expression in the nuchal skin of human fetuses with trisomy 21

Y. Ville, F. Guimiot, J. Moalic, 2007, Prenatal diagnosis.

Prognosis and outcome of pregnancies exposed to renin–angiotensin system blockers

F. Guimiot, G. Grangé, F. Muller, 2012, Prenatal diagnosis.

Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene

A. Laquérriere, T. Frebourg, F. Lecoquierre, 2017, Acta neuropathologica communications.

Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases

F. Guimiot, S. Khung-Savatovsky, M. Pettazzoni, 2020, Prenatal diagnosis.

Molecular and Functional Characterization of Lymphoid Progenitor Subsets Reveals a Bipartite Architecture of Human Lymphopoiesis

A. Cumano, V. Vanneaux, J. Larghero, 2017, Immunity.

DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy

J. Melki, A. Laquérriere, C. Dupont, 2023, Clinical genetics.

CD117hi expression identifies a human fetal hematopoietic stem cell population with high proliferation and self-renewal potential

Soria Eladak, D. Moison, V. Rouiller-Fabre, 2020, Haematologica.

Expression of the RSK2 gene during early human development.

A. Hanauer, M. Simonneau, F. Guimiot, 2004, Gene expression patterns : GEP.

Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis

A. Aboura, C. Dupont, F. Guimiot, 2013, American journal of medical genetics. Part A.

Management strategy in pregnancies with elevated second-trimester maternal serum alpha-fetoprotein based on a second assay.

F. Guimiot, F. Muller, T. Schmitz, 2013, American journal of obstetrics and gynecology.

Fetal obstructive uropathy complicated by urinary ascites: outcome and prognostic value of fetal serum β‐2‐microglobulin

F. Guimiot, E. Verspyck, E. Spaggiari, 2013, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.