B. Leroy

发表

Fetal phenotype associated with the 22q11 deletion

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

Prenatal diagnosis of de novo (7;19)(q11.2;q13.3) translocation associated with a thick corpus callosum and Wilms tumor of the kidneys

F. Vialard, J. Selva, D. M. Gomes, 2005, Prenatal diagnosis.

Prenatal laser treatment of a placental chorioangioma

Y. Ville, J. Bernard, B. Leroy, 2005, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

R. Salomon, O. Gribouval, F. Silbermann, 2014, American journal of human genetics.

Novel TMEM67 mutations and genotype‐phenotype correlates in meckelin‐related ciliopathies

E. Bertini, F. Brancati, E. Valente, 2010, Human mutation.

Array Comparative Genomic Hybridization in Prenatal Diagnosis: Another Experience

J. Roume, P. de Mazancourt, V. Sérazin, 2009, Fetal Diagnosis and Therapy.

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations

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

Partial Chromosome Deletion: A New Trisomy Rescue Mechanism?

F. Vialard, J. Selva, D. Molina-Gomes, 2009, Fetal Diagnosis and Therapy.

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.

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.

Mid–trimester hyperechogenic bowel in a fetus of Japanese origin carrying a new mutation of CFTR gene (L548Q)

J. Selva, D. Molina-Gomes, Y. Ville, 2006, Prenatal diagnosis.

Fetal diagnosis of right cardiac ventricular aneurysms: A report of three cases.

L. Cohen, T. Quibel, J. Bault, 2018, Journal of gynecology obstetrics and human reproduction.

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.

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.

Williams-Beuren syndrome: the prenatal phenotype.

F. Vialard, J. Bault, B. Leroy, 2011, American Journal of Obstetrics and Gynecology.

Novel TMEM67 mutations and genotype‐phenotype correlates in meckelin‐related ciliopathies

E. Bertini, F. Brancati, E. Valente, 2010, Human mutation.