A. Delezoide

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Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

A. Munnich, M. Gonzalès, M. Gubler, 2005, American journal of human genetics.

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.

Prenatal MR diagnosis of a thick corpus callosum.

P. Sonigo, F. Brunelle, A. Delezoide, 1996, AJNR. American journal of neuroradiology.

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.

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.

Biometry of Face and Brain in Fetuses with Trisomy 21

F. Ménez, A. Guihard-Costa, A. Delezoide, 2006, Pediatric Research.

Thyroid Function in Fetuses with Down Syndrome

D. Luton, M. Polak, J. Guibourdenche, 2012, Hormone Research in Paediatrics.

Expression pattern of NOGO and NgR genes during human development.

M. Simonneau, J. Moalic, A. Delezoide, 2005, Gene expression patterns : GEP.

Fetal phenotype associated with the 22q11 deletion

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

Ultrastructural evaluation of lung maturation in a sheep model of diaphragmatic hernia and tracheal occlusion.

A. Benachi, J. Bourbon, A. Delezoide, 1999, American journal of respiratory cell and molecular biology.

Outcome following prenatal diagnosis of severe bilateral renal hypoplasia

Y. Ville, J. Oury, J. Stirnemann, 2013, Prenatal Diagnosis.

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

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

Insulin‐like 4 (INSL4) gene expression in human embryonic and trophoblastic tissues

M. Vidaud, M. Vekemans, D. Bellet, 1998, Molecular reproduction and development.

BBS 10 mutations are frequent in “ Meckel ” type cystic kidneys

Marie-Pierre, Sophie, R. Bouvier, 2018 .

BBS10 mutations are common in ‘Meckel’-type cystic kidneys

R. Salomon, M. Gubler, R. Bouvier, 2010, Journal of Medical Genetics.

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.

Prenatal diagnosis of tuberous sclerosis. Use of magnetic resonance imaging and its implications for prognosis

P. Sonigo, F. Brunelle, M. Gonzalès, 1994, Prenatal diagnosis.

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

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

Expression of the RET proto-oncogene in human embryos.

A. Munnich, S. Lyonnet, M. Vekemans, 1998, American journal of medical genetics.

Inner ear lesions in congenital cytomegalovirus infection of human fetuses

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

Twin-to-twin transfusion syndrome. Role of the fetal renin-angiotensin system.

M. Gonzalès, M. Gubler, M. Dommergues, 2000, The American journal of pathology.

Expression of α and β tropomyosin subunits during early myogenesis in somites and limb buds of chick embryos

M. Fiszman, F. Nato, A. Delezoide, 1989, Cell and Tissue Research.

Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.

C. Orssaud, D. Schorderet, F. Munier, 2006, Molecular vision.

Glial cell-derived neurotrophic factor expression in normal human lung and congenital cystic adenomatoid malformation.

Y. Aigrain, M. Peuchmaur, P. Philippe-chomette, 2002, Archives of pathology & laboratory medicine.

Prevalence, timing of diagnosis and mortality of newborns with congenital heart defects: a population-based study

N. Lelong, J. Magny, F. Goffinet, 2012, Heart.

EXT 1 Gene Mutation Induces Chondrocyte Cytoskeletal Abnormalities and Defective Collagen Expression in the Exostoses

A. Munnich, J. Bonaventure, R. Piazza, 2000, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

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

Lack of Renal 11 Beta-Hydroxysteroid Dehydrogenase Type 2 at Birth, a Targeted Temporal Window for Neonatal Glucocorticoid Action in Human and Mice

M. Lombès, P. Boileau, L. Martinerie, 2012, PloS one.

Zygosity and chorionicity in triplet pregnancies: new data.

D. Luton, J. Oury, S. Drunat, 2008, Human reproduction.

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

A. Munnich, D. Cavalcanti, S. Smithson, 2009, American journal of human genetics.

Calpain3 expression during human cardiogenesis

J. Beckmann, F. Fougerousse, L. Anderson, 2000, Neuromuscular Disorders.

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

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

Paradoxic Activation of the Renin-Angiotensin System in Twin-Twin Transfusion Syndrome: An Explanation for Cardiovascular Disturbances in the Recipient

N. Fisk, M. Gubler, J. Martinovic, 2005, Pediatric Research.

Etiology and Outcome of Fetal Echogenic Bowel

E. Denamur, C. Garel, D. Luton, 2003, Fetal Diagnosis and Therapy.

Meconium ileus and intestinal atresia in fetuses and neonates.

R. Bouvier, B. Leheup, D. Gaillard, 1996, Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association.

Parathyroid hormone receptor type 1/Indian hedgehog expression is preserved in the growth plate of human fetuses affected with fibroblast growth factor receptor type 3 activating mutations.

J. Bonaventure, C. Benoist-Lasselin, L. Legeai-Mallet, 2002, The American journal of pathology.

CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene

M. Elmaleh, M. Passos-Bueno, A. Verloes, 2007, American journal of medical genetics. Part A.

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype–phenotype correlation

A. Munnich, N. Boddaert, R. Salomon, 2009, Human mutation.

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.

Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2.

J. Bonaventure, A. Superti-Furga, G. Cetta, 1997, European journal of biochemistry.

Persistent anuria, neonatal death, and renal microcystic lesions after prenatal exposure to indomethacin.

M. Gubler, F. Bavoux, A. Delezoide, 1994, American journal of obstetrics and gynecology.

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases

A. Munnich, G. Mortier, G. Scarano, 2012, Journal of Medical Genetics.

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions.

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

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

A. Munnich, D. Cavalcanti, M. Vekemans, 2009, Journal of Medical Genetics.

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.

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

A. Munnich, R. Salomon, B. Estournet, 2013, Journal of Medical Genetics.

molecular evidence for the Jeune-Verma-Naumoff dysplasia spectrum

A. Munnich, D. Cavalcanti, M. Vekemans, 2009 .

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

A. Munnich, C. Bole-Feysot, P. Nitschké, 2013, American 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.

Prenatal MRI diagnosis of fetal cerebral tuberous sclerosis

P. Sonigo, E. Brunelle, A. Delezoide, 2005, Pediatric Radiology.

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.

Expression patterns of parathyroid hormone-related peptide (PTHrP) and parathyroid hormone receptor type 1 (PTHR1) during human development are suggestive of roles specific for each gene that are not mediated through the PTHrP/PTHR1 paracrine signaling pathway.

A. Delezoide, C. Silve, S. Cormier, 2003, Gene expression patterns : GEP.

Unusual Variant of Holoprosencephaly in Monosomy 13q

C. Fallet-Bianco, J. Roume, F. Encha-Razavi, 2002, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Coexpression of Wilms' tumor suppressor 1 (WT1) and androgen receptor (AR) in the genital tract of human male embryos and regulation of AR promoter activity by WT1.

B. Köhler, S. Lumbroso, C. Sultan, 2007, Journal of molecular endocrinology.

Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases

A. Munnich, N. Philip, D. Rimoin, 2003, Journal of medical genetics.

Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis

R. Deberardinis, H. Firth, J. Tolmie, 2012, Human mutation.

Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system.

M. Gonzalès, M. Gubler, R. Bouvier, 2006, Journal of the American Society of Nephrology : JASN.

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.

Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.

A. Munnich, P. Rustin, S. Lyonnet, 1998, American journal of medical genetics.

Lung growth and maturation after tracheal occlusion in diaphragmatic hernia.

F. Brunelle, A. Benachi, J. Bourbon, 1998, American journal of respiratory and critical care medicine.

Tracheal obstruction in experimental diaphragmatic hernia: an endoscopic approach in the fetal lamb

A. Benachi, J. Bourbon, M. Dommergues, 1997, Prenatal diagnosis.

Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases

M. Gonzalès, C. Bénéteau, S. Blesson, 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.

New insights into genotype–phenotype correlation for GLI3 mutations

A. Munnich, A. Mégarbané, A. Afenjar, 2014, European Journal of Human Genetics.

Skin calcium-binding protein in squamous metaplasia of human uterine cervix.

J. Saurat, A. Pfister, A. Delezoide, 1984, The American journal of pathology.

The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy.

A. Munnich, J. Roume, S. Lefebvre, 1998, Human molecular genetics.

Expression of fibroblast growth factors 18 and 23 during human embryonic and fetal development.

A. Delezoide, C. Silve, C. Leroy, 2005, Gene expression patterns : GEP.

Prenatal Marfan syndrome: report of one case and review of the literature

D. Luton, C. Baumann, A. Delezoide, 2006, Prenatal diagnosis.

Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses.

A. Munnich, J. Bonaventure, M. Vekemans, 1997, Human molecular genetics.

Ultrasound assessment of the prognosis in triplet pregnancies

C. Garel, D. Luton, J. Oury, 2009, Acta Obstetricia et Gynecologica Scandinavica.

Zygosity and Chorionicity in the Prognosis of Triplet Pregnancies: Contribution of Microsatellites

D. Luton, J. Oury, C. Le Ray, 2008, Twin Research and Human Genetics.

Waardenburg syndrome in man and splotch mutants in the mouse: a paradigm of the usefulness of linkage and synteny homologies in mouse and man for the genetic analysis of human congenital malformations.

M. Vekemans, A. Delezoide, 1994, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.

Fetal enteroviral infection with cerebral ventriculomegaly and cardiomyopathy.

C. Fallet-Bianco, P. Lebon, J. Petitjean, 1994, Fetal diagnosis and therapy.

Low renal mineralocorticoid receptor expression at birth contributes to partial aldosterone resistance in neonates.

M. Lombès, S. Viengchareun, P. Boileau, 2009, Endocrinology.

Absence of functional type 1 parathyroid hormone (PTH)/PTH-related protein receptors in humans is associated with abnormal breast development and tooth impaction.

J. Wysolmerski, W. Philbrick, J. Roume, 2001, The Journal of clinical endocrinology and metabolism.

Cerebral midline developmental anomalies: spectrum and associated features.

A. Delezoide, F. Narcy, J. Larroche, 1990, Genetic counseling.

Presentation of six cases of Stüve-Wiedemann syndrome

A. Munnich, P. Rustin, S. Lyonnet, 1998, Pediatric Radiology.

Outcome of prenatally detected bilateral higher urinary tract obstruction or megacystis: sex‐related study on a series of 709 cases

J. Oury, F. Muller, M. Dommergues, 2012, Prenatal diagnosis.

Infections néonatales à Candida

P. Mariani-Kurkdjian, S. Lefèvre, Y. Aujard, 2003 .

Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry

P. Rohrlich, A. Dupuy, Y. Bertrand, 2012, Orphanet Journal of Rare Diseases.

Undersulfation of Proteoglycans Synthesized by Chondrocytes from a Patient with Achondrogenesis Type 1B Homozygous for an L483P Substitution in the Diastrophic Dysplasia Sulfate Transporter*

J. Bonaventure, A. Superti-Furga, G. Cetta, 1996, The Journal of Biological Chemistry.

Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency

A. Verloes, C. Baumann, M. Gerard-Blanluet, 2010, American journal of medical genetics. Part A.

Monocytic cells derived from human embryonic stem cells and fetal liver share common differentiation pathways and homeostatic functions.

P. Opolon, E. Solary, W. Vainchenker, 2011, Blood.

Long-term outcome of prenatally detected posterior urethral valves: single center study of 65 cases managed by primary valve ablation.

J. Oury, G. Sebag, Y. Aigrain, 2008, The Journal of urology.

Aortico-left ventricular tunnel in fetuses and infants.

F. Lacour-Gayet, D. Piot, A. Serraf, 1996, The Annals of thoracic surgery.

A new lethal syndrome of exomphalos, short limbs, and macrogonadism

A. Munnich, S. Lyonnet, L. Faivre, 1999, Journal of medical genetics.

MR imaging of fetal cerebral anomalies

P. Sonigo, F. Brunelle, A. Delezoide, 1998, Pediatric Radiology.

Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships.

L. Ala‐Kokko, J. Bonaventure, D. Prockop, 1995, The Biochemical journal.

Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism

G. Mortier, L. Faivre, C. Thauvin-Robinet, 2004, American journal of medical genetics. Part A.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

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

Cytomegalovirus-induced brain malformations in fetuses.

C. Fallet-Bianco, J. Golden, P. Gressens, 2014, Journal of neuropathology and experimental neurology.

FETAL SERUM INTERFERON‐ALPHA SUGGESTS VIRAL INFECTION AS THE AETIOLOGY OF UNEXPLAINED LATERAL CEREBRAL VENTRICULOMEGALY

C. Fallet-Bianco, P. Lebon, M. Dommergues, 1996, Prenatal diagnosis.

SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects

J. Buxbaum, D. Muller, P. Gorwood, 2008, Molecular Psychiatry.

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.

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).

A. Munnich, J. Bonaventure, V. El Ghouzzi, 1996, Human molecular genetics.

BARHL1 homeogene, the human ortholog of the mouse Barhl1 involved in cerebellum development, shows regional and cellular specificities in restricted domains of developing human central nervous system.

J. Delabar, M. Rachidi, C. Lopes, 2006, Biochemical and biophysical research communications.

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

J. Weissenbach, A. Munnich, C. Cruaud, 2005, Journal of Medical Genetics.

Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome.

A. Munnich, S. Lyonnet, M. Vekemans, 2000, American journal of medical genetics.

Hippocampal Radial Glial Subtypes and Their Neurogenic Potential in Human Fetuses and Healthy and Alzheimer’s Disease Adults

C. Verney, E. Aronica, P. Gressens, 2018, Cerebral cortex.

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.

Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter.

M. Vekemans, A. Delezoide, N. Morichon‐Delvallez, 1993, Journal of medical genetics.

Osteocraniostenosis.

A. Verloes, M. le Merrer, P. Maroteaux, 1994, Journal of medical genetics.

Cardiac myosin binding protein C gene is specifically expressed in heart during murine and human development.

M. Fiszman, F. Fougerousse, K. Schwartz, 1998, Circulation research.

Dynamics of thymus-colonizing cells during human development.

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

Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development.

O. Pourquié, F. Fougerousse, N. Romero, 1998, Genomics.

Thanatophoric dysplasia caused by double missense FGFR3 mutations

A. Munnich, S. Pannier, J. Martinovic, 2009, American journal of medical genetics. Part A.

Aphallia, Lung Agenesis and Multiple Defects of Blastogenesis

A. Verloes, C. Baumann, M. Gerard-Blanluet, 2011, Fetal and pediatric pathology.

DYRK1A interacts with the REST/NRSF-SWI/SNF chromatin remodelling complex to deregulate gene clusters involved in the neuronal phenotypic traits of Down syndrome.

Paul Antoine Salin, S. Imbeaud, P. Gorwood, 2009, Human molecular genetics.

Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families.

A. Laquérriere, M. Gonzalès, F. Encha-Razavi, 2007, Molecular genetics and metabolism.

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations

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

Standards for Dysmorphological Diagnosis in Human Fetuses

F. Ménez, A. Guihard-Costa, A. Delezoide, 2003, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Organ Weights in Human Fetuses after Formalin Fixation: Standards by Gestational Age and Body Weight

F. Ménez, A. Guihard-Costa, A. Delezoide, 2002, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Abnormal abdominal situs: what and how should we look for?

C. Garel, J. Oury, G. Sebag, 2006, Prenatal diagnosis.

Fibroblast Growth Factor Receptor 3 Mutations Promote Apoptosis but Do Not Alter Chondrocyte Proliferation in Thanatophoric Dysplasia*

A. Munnich, J. Bonaventure, C. Benoist-Lasselin, 1998, The Journal of Biological Chemistry.

Clinical variability in patients with Apert's syndrome.

M. Gonzalès, J. Bonaventure, V. El Ghouzzi, 1999, Journal of neurosurgery.

Prenatal phenotype of congenital hyperparathyroidism

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

Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects

F. Muller, A. Delezoide, B. Simon‐Bouy, 1997, Human Genetics.

Prenatal diagnosis of femoral-facial syndrome: report of two cases.

A. Delezoide, F. Rypens, N. Patey, 2013, Birth defects research. Part A, Clinical and molecular teratology.

Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations.

C. Baumann, M. Fabre, S. Cereghini, 2006, Human molecular genetics.

Prenatal diagnosis of horseshoe lung: contribution of MRI

C. Garel, J. Oury, G. Sebag, 2005, Pediatric Radiology.

Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain

J. Mallet, M. Vekemans, M. Abitbol, 1993, Nature Genetics.

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

R. Salomon, C. Antignac, P. Nitschké, 2011, Journal of Medical Genetics.

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

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

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.

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.

Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations

C. Fallet-Bianco, C. Picard, E. Schaftingen, 2021, Journal of Clinical Immunology.

Erratum to First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond–Blackfan anemia

T. Leblanc, N. Mohandas, R. Bouvier, 2013 .

First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond–Blackfan anemia

R. Touraine, L. D. Da Costa, T. Leblanc, 2013, American journal of hematology.

Contribution of fetal MRI to the diagnosis of inner ear abnormalities: report of two cases

C. Garel, G. Sebag, F. Ménez, 2006, Pediatric Radiology.

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.

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

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

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.

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.

Outcome and etiologies of fetal megacystis according to the gestational age at diagnosis

J. Oury, F. Muller, T. Schmitz, 2013, Prenatal diagnosis.

First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond–Blackfan anemia.

R. Touraine, L. D. Da Costa, T. Leblanc, 2013, American journal of hematology.

Entry and Distribution of Microglial Cells in Human Embryonic and Fetal Cerebral Cortex

C. Verney, P. Gressens, H. Adle-Biassette, 2007, Journal of neuropathology and experimental neurology.

Prenatal rupture of a left ventricular diverticulum: a case report and review of the literature

J. Oury, A. Bernasconi, F. Ménez, 2004, Prenatal diagnosis.

Molecular characterization of early human T/NK and B-lymphoid progenitor cells in umbilical cord blood.

Jerry Radich, F. Pflumio, C. Thibault, 2004, Blood.

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1

A. Munnich, M. Sanak, J. Bonaventure, 1995, Nature Genetics.

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.

New Insight on FGFR3-Related Chondrodysplasias Molecular Physiopathology Revealed by Human Chondrocyte Gene Expression Profiling

A. Munnich, J. Jais, M. Gonzalès, 2009, PloS one.

Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossification

A. Munnich, J. Bonaventure, M. Vekemans, 1998, Mechanisms of Development.

Regional and cellular specificity of the expression of TPRD, the tetratricopeptide Down syndrome gene, during human embryonic development

J. Delabar, M. Vekemans, M. Rachidi, 2000, Mechanisms of Development.

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.

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.

Brain damage in monozygous twins.

J. Larroche, A. Delezoide, C. Nessmann, 1990, Biology of the neonate.

G.O.15 Correlation between low FAT1 expression and early affected muscle in FSHD

F. Puppo, F. Magdinier, G. Butler-Browne, 2015, Neuromuscular Disorders.

Twin-to-twin transfusion syndrome: selective feticide by embolization of the hydropic fetus.

L. Mandelbrot, M. Dommergues, A. Delezoide, 1995, Fetal diagnosis and therapy.

Severe X‐linked chondrodysplasia punctata in nine new female fetuses

A. Toutain, J. Rivière, M. Gonzalès, 2015, Prenatal diagnosis.

A guinea pig model for cytomegalovirus congenital infection: dose-effect and vertical transmission rate

Y. Ville, C. Rouzioux, G. Benoist, 2008, Retrovirology.

Third‐trimester fetal MRI in isolated 10‐ to 12‐mm ventriculomegaly: is it worth it?

C. Garel, J. Oury, G. Sebag, 2006, BJOG : an international journal of obstetrics and gynaecology.

Phenotypic spectrum of STRA6 mutations: from Matthew‐Wood syndrome to non‐lethal anophthalmia

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