L. Loeuillet

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

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

Second- and Third-Trimester Pathologies

L. Loeuillet, J. Bault, 2015 .

Fetal phenotype associated with the 22q11 deletion

A. Laquérriere, R. Bouvier, L. Loeuillet, 2014, American journal of medical genetics. Part A.

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

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

Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases.

C. Fallet-Bianco, A. Laquérriere, M. Vekemans, 2009, European journal of medical genetics.

Necrotizing sarcoid granulomatosis with and without extrapulmonary involvement.

L. Loeuillet, M. Ramée, B. Desrues, 1996, Pathology, research and practice.

Detailled Study of Certain Brain Structures

L. Loeuillet, J. Bault, 2015 .

Megacystis in the first trimester of pregnancy: Prognostic factors and perinatal outcomes

V. Tsatsaris, L. Loeuillet, C. Delteil, 2021, PloS one.

Three-Dimensional Reconstruction and Morphologic Measurements of Human Embryonic Hearts: A New Diagnostic and Quantitative Method Applicable to Fetuses Younger Than 13 Weeks of Gestation

J. Moulinoux, J. Dillenseger, L. Loeuillet, 2005, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

TCTN3 mutations cause Mohr-Majewski syndrome.

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

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.

Three-dimensional reconstruction and morphological measurements of human embryonic hearts . A new diagnostic and quantitative method applicable to fetuses younger than 11 weeks of gestational age

J. Moulinoux, J. Dillenseger, L. Loeuillet, 2016 .

Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.

D. Lacombe, L. Pasquier, L. Loeuillet, 2009, European journal of medical genetics.

Preimplantation Factor (PIF) Promotes Human Trophoblast Invasion1

P. de Mazancourt, M. Dieudonné, F. Vialard, 2014, Biology of reproduction.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

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

Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series

P. Sonigo, L. Salomon, C. Bénéteau, 2021, Prenatal diagnosis.

Embryology of neural tube defects: information provided by associated malformations

L. Loeuillet, S. Odent, P. Poulain, 2007, Prenatal diagnosis.

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations

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

Prenatal diagnosis of the duplication 17p11.2 associated with Potocki-Lupski syndrome in a foetus presenting with mildly dysmorphic features.

J. Roume, F. Vialard, L. Loeuillet, 2012, European journal of medical genetics.

High‐throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

G. Gyapay, A. Munnich, A. Laquérriere, 2010, Human mutation.

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

P. Jouk, F. Escande, C. Goizet, 2020, Human mutation.

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.

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.

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.

Loss‐of‐function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish

S. Saunier, J. Roume, C. Jeanpierre, 2018, Human molecular genetics.

Cellular mesoblastic nephroma: morphologic, cytogenetic and molecular links with congenital fibrosarcoma.

P. Dubus, J. Merlio, L. Loeuillet, 2003, Pathology, research and practice.

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.

Diagnostic value of fetal autopsy after early termination of pregnancy for fetal anomalies

V. Tsatsaris, L. Loeuillet, O. Anselem, 2022, PloS one.

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.

Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.

C. Fallet-Bianco, F. Chapon, L. Pasquier, 2008, Brain : a journal of neurology.

PreImplantation factor (PIF) promotes human trophoblast invasion

M. Dieudonné, F. Vialard, L. Loeuillet, 2014 .

Pregnancy outcomes in women with primary Sjögren's syndrome: an analysis of data from the multicentre, prospective, GR2 study.

M. Dougados, C. Cazalets, P. Dieudé, 2023, The Lancet. Rheumatology.

First-Trimester Pathologies

L. Loeuillet, J. Bault, 2015 .

Ultrasound Images of the Normal Brain

L. Loeuillet, J. Bault, 2015 .

IFITM1 inhibits trophoblast invasion and is induced in placentas associated with IFN-mediated pregnancy diseases

O. Schwartz, S. Degrelle, A. Dupressoir, 2023, iScience.

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

E. Denamur, A. Laquérriere, M. Gonzalès, 2010, Kidney international.