F. Razavi

发表

Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum

P. Hof, I. Glass, D. Gerrelli, 2019, Science.

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.

Mitochondrial respiratory chain complex assembly and function during human fetal development.

A. Munnich, A. Rötig, J. Martinovic, 2008, Molecular genetics and metabolism.

PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration

J. Cherfils, C. Depienne, A. Rastetter, 2019, Neurobiology of Disease.

Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.

P. Nitschké, M. Vekemans, T. Attié-Bitach, 2018, Birth defects research.

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.

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.

Failure of human rhombic lip differentiation underlies medulloblastoma formation

Steven J. M. Jones, Richard A. Moore, Trevor J Pugh, 2022, Nature.

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.

Title: Recessive PRDM13 mutations cause severe brainstem dysfunction with perinatal lethality, cerebellar hypoplasia and disrupt Purkinje cell differentiation

C. Garel, N. Boddaert, A. Laquérriere, 2022 .

Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome.

N. Boddaert, P. Sonigo, F. Brunelle, 2006, AJNR. American journal of neuroradiology.

C5orf42 is the major gene responsible for OFD syndrome type VI

H. Kayserili, J. Rivière, D. Lacombe, 2014, Human Genetics.

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

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

Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome

A. Munnich, G. Meroni, D. Lacombe, 2004, Journal of Medical Genetics.

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.

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability

L. Gallagher, E. Haffen, C. Depienne, 2012, Journal of Medical 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.

In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses

P. Sonigo, M. Gonzalès, L. Faivre, 2018, Birth defects research.

Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature

R. Favre, J. Chelly, N. Calmels, 2020, American journal of medical genetics. Part A.

Immunohistochemical characterization of the out-of frame splice variants GFAP Δ164/Δexon 6 in focal lesions associated with chronic epilepsy

J. C. Baayen, E. Aronica, K. Boer, 2010, Epilepsy Research.

Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?

Y. Ville, R. Bouvier, M. Vekemans, 2010, Molecular genetics and metabolism.

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation.

C. Garel, N. Boddaert, J. Baptista, 2022, American journal of human genetics.

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

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

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.

Prenatal cortical hyperostosis with COL1A1 gene mutation

A. Munnich, J. Martinovic, M. le Merrer, 2008, American Journal of Medical Genetics. Part A.

Immunohistochemical Expression of Prion Protein (PrPC) in the Human Forebrain During Development

C. Verney, H. Budka, P. Gressens, 2006, Journal of neuropathology and experimental neurology.

C5orf42 is the major gene responsible for OFD syndrome type VI

H. Kayserili, J. Rivière, D. Lacombe, 2013, Human Genetics.

Refining the phenotypical and mutational spectrum of Taybi‐Linder syndrome

R. Hennekam, A. Verloes, S. Mazoyer, 2016, Clinical genetics.