F. Encha-Razavi

发表

Features of the developing brain

P. Sonigo, F. Encha-Razavi, Férechté Encha-Razavi, 2003, Child's Nervous System.

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

A. Munnich, N. Boddaert, P. Beales, 2012, Journal of Medical Genetics.

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.

A. Munnich, S. Lyonnet, M. Vekemans, 2007, American journal of human genetics.

17q21.31 Microdeletion: Brain Anomalies Leading to Prenatal Diagnosis

Y. Ville, C. Garel, M. Vekemans, 2014, Cytogenetic and Genome Research.

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

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

Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphism

S. Lyonnet, S. Sarnacki, F. Encha-Razavi, 2007, American journal of medical genetics. Part A.

Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.

C. Fallet-Bianco, N. Boddaert, N. Lebrun, 2010, Human molecular genetics.

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.

A. Munnich, R. Touraine, W. Doerfler, 2000, American journal of human genetics.

Expression of the SOX10 gene during human development

M. Wegner, F. Encha-Razavi, M. Goossens, 1998, FEBS letters.

Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images

M. Gerard-Blanluet, F. Encha-Razavi, M. le Merrer, 2007, Prenatal diagnosis.

Prevalence and timing of pregnancy termination for brain malformations

F. Rivier, A. Laquérriere, F. Encha-Razavi, 2011, Archives of Disease in Childhood: Fetal and Neonatal Edition.

Mosaic trisomy 9 and lobar holoprosencephaly.

M. Gerard-Blanluet, F. Encha-Razavi, S. Odent, 2002, American journal of medical genetics.

First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations

L. Pasquier, M. Gonzalès, F. Encha-Razavi, 2005, Journal of Medical Genetics.

Identification of brain malformations: neuropathological approach

F. Encha-Razavi, 2003, Child's Nervous System.

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

P. Grant, R. Scott, S. Naidu, 2018, Brain sciences.

Bilateral periventricular heterotopias in an X‐linked dominant transmission in a family with two affected males

P. Brugières, S. Amselem, M. Gerard-Blanluet, 2006, American journal of medical genetics. Part A.

Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly.

M. Gonzalès, F. Encha-Razavi, L. Carbillon, 1997, Journal of medical genetics.

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.

A. Laquérriere, M. Gonzalès, J. Chelly, 2016, European journal of medical genetics.

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

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

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

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

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.

Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation

A. Munnich, P. Sonderegger, D. Bacq, 2002, Science.

Occurrence of left versus right heart hypoplasia in a pair of dizygotic twins

A. Benachi, M. Vekemans, F. Encha-Razavi, 2003, American journal of medical genetics. Part A.

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.

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.

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.

JAGGED1 Gene Expression During Human Embryogenesis Elucidates the Wide Phenotypic Spectrum of Alagille Syndrome

M. Vekemans, F. Encha-Razavi, M. Hadchouel, 2000, Hepatology.

New insights into genotype–phenotype correlation for GLI3 mutations

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

Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development.

S. Amselem, M. Vekemans, F. Encha-Razavi, 2004, Gene expression patterns : GEP.

Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement

A. Toutain, P. Calvas, N. Chassaing, 2007, American journal of medical genetics. Part A.

Stability of the m.8993T→G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome

A. Munnich, R. Frydman, J. Steffann, 2007, Journal of Medical Genetics.

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.

A. Munnich, P. Rustin, M. Vekemans, 2005, American journal of human genetics.

De novo Subtelomeric Deletion Additional to an Inherited Apparently Balanced Reciprocal Translocation

M. Gerard-Blanluet, F. Encha-Razavi, J. Wolf, 2007, Fetal Diagnosis and Therapy.

Giant omphalocele and “prune belly” sequence as components of the Beckwith–Wiedemann syndrome

M. Gerard-Blanluet, C. Gicquel, F. Encha-Razavi, 2004, American journal of medical genetics. Part A.

GFAPδ in radial glia and subventricular zone progenitors in the developing human cortex

E. Aronica, K. Boer, J. Middeldorp, 2010, Development.

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

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

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

A. Munnich, C. Picard, N. Boddaert, 2007, Nature Genetics.

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

A. Munnich, C. Cruaud, M. Gonzalès, 2009 .

Matthew‐Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2

C. Fallet-Bianco, A. Benachi, M. Vekemans, 2007, American journal of medical genetics. Part A.

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 SMADIP1 gene during early human development

A. Munnich, S. Lyonnet, Y. Espinosa-Parrilla, 2002, Mechanisms of Development.

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.

Expression of the sonic hedgehog gene in human embryos with neural tube defects.

M. Vekemans, F. Encha-Razavi, T. Attié-Bitach, 2000, Teratology.

Lissencephaly type III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome.

A. Verloes, F. Encha-Razavi, M. Hermier, 2001, American journal of medical genetics.

THE SPECTRUM OF TYPE III LISSENCEPHALY: A CLINICOPATHOLOGICAL UPDATE

R. Bouvier, F. Encha-Razavi, F. Dijoud, 2004, Fetal and pediatric pathology.

Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.

D. Rimoin, A. Nerlich, M. Gonzalès, 2002, American journal of medical genetics.

Prenatal‐onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation

N. Boddaert, P. Sonigo, C. Bole-Feysot, 2021, Birth defects research.

Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia

M. Vekemans, B. Aral, F. Encha-Razavi, 2008, Prenatal diagnosis.

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.

Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2

D. Bonneau, F. Encha-Razavi, P. Descamps, 2004, Prenatal diagnosis.

Diaphanospondylodysostosis (DSD): Confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis

A. Verloes, M. Gonzalès, F. Encha-Razavi, 2005, American journal of medical genetics. Part A.

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

A. Munnich, R. Hennekam, N. Katsanis, 2011, Nature 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.

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

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

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Colin A. Johnson, Nathalie Boddaert, Sophie Saunier, 2007, Nature 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.

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

Colin A. Johnson, A. Munnich, E. Génin, 2007, American journal of human genetics.

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

A. Munnich, N. Boddaert, R. Touraine, 2013, Clinical genetics.

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

Colin A. Johnson, A. Munnich, N. Boddaert, 2007, American journal of human genetics.

Reassessment of holoprosencephaly–diencephalic hamartoblastoma (HDH) association

B. Dallapiccola, S. Douzgou, F. Encha-Razavi, 2007, American journal of medical genetics. Part A.

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.

Fetal cerebral hemorrhage due to X‐linked GATA1 gene mutation

L. D. Da Costa, M. Senat, F. Encha-Razavi, 2018, Prenatal diagnosis.

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype‐phenotype correlation

Colin A. Johnson, Arnold Munnich, Fiona Macdonald, 2007, Human mutation.

Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome

Nathalie Spassky, N. Spassky, F. Encha-Razavi, 2012, Proceedings of the National Academy of Sciences.

A practical approach to the examination of the malformed fetal brain: impact on genetic counselling

A. Laquérriere, M. Gonzalès, M. Vekemans, 2008, Pathology.

[Fetal neuropathology: a new approach].

F. Encha-Razavi, 1997, Annales de Pathologie.

Molecular heterogeneity in fetal forms of type II lissencephaly

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

Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies

B. Gilbert-Dussardier, M. Gonzalès, B. Grandchamp, 2011, Neuromuscular Disorders.

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.

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla

P. Nitschké, F. Encha-Razavi, J. Amiel, 2023, Acta Neuropathologica Communications.

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.

Differential distribution of group I metabotropic glutamate receptors in developing human cortex

E. Aronica, K. Boer, F. Encha-Razavi, 2010, Brain Research.

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.

Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita

J. Melki, J. Steffann, F. Encha-Razavi, 2022, American journal of medical genetics. Part A.

Prenatal Diagnosis of COL4A1 Mutations in Eight Cases: Further Delineation of the Neurohistopathological Phenotype

C. Fallet-Bianco, A. Benachi, F. Encha-Razavi, 2022, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

PAX2 mutations in fetal renal hypodysplasia

A. Benachi, R. Salomon, C. Antignac, 2010, American journal of medical genetics. Part A.

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.

Delineating septo‐optic dysplasia

F. Encha-Razavi, M. Lubinsky, 2022, Birth defects research.

Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different

A. Munnich, P. Sonigo, F. Brunelle, 2004, American journal of medical genetics. Part A.

OTX2 mutations contribute to the otocephaly-dysgnathia complex

C. Mercer, E. Jabs, N. Katsanis, 2012, Journal of Medical Genetics.

[Ultrasonographic and pathological correlation in a fetal intracranial cyst: a case of "diencephalo-synapsis"].

F. Encha-Razavi, J. Martinovic, J. Tantau, 2002, Journal de gynecologie, obstetrique et biologie de la reproduction.

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X‐linked mental retardation syndrome

Nathalie Boddaert, Arnold Munnich, Francis Brunelle, 2008, Human mutation.

Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency

C. Fallet-Bianco, M. Dhenain, G. Meyer, 2007, The Journal of comparative neurology.

Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum

A. Munnich, S. Lyonnet, Y. Espinosa-Parrilla, 2004, Prenatal diagnosis.

Correlation between HIV infection and central nervous system (CNS) changes in fetal brain.

J. Roume, F. Encha-Razavi, R. Vazeux, 1991, Journal of Acquired Immune Deficiency Syndromes.

Congenital hypothalamic hamartoma syndrome: nosological discussion and minimum diagnostic criteria of a possibly familial form.

M. Gonzalès, J. Roume, F. Encha-Razavi, 1992, American journal of medical genetics.

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

Res, P. Grant, R. Scott, 2018, Brain sciences.

Arthrogryposis multiplex congenita and Cerebellopontine Ischemic Lesions in Sibs: Recurrence of Prenatal Disruptive Brain Lesions with Different Patterns of Expression?

P. Sonigo, F. Encha-Razavi, L. Salomon, 2002, Fetal Diagnosis and Therapy.

Excess of Neuromuscular Spindles in a Fetus with Costello Syndrome: A Clinicopathological Report

H. Cavé, G. Bassez, F. Encha-Razavi, 2011, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.