Sodium/Iodide Symporter (NIS) Gene Expression Is the Limiting Step for the Onset of Thyroid Function in the Human Fetus

Gabor Szinnai, Ludovic Lacroix, Aurore Carré, +10

The Journal of Clinical Endocrinology & Metabolism

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

Luís Teixeira, Fabien Guimiot, Catherine Dodé, +4

Journal of Clinical Investigation

NeuroendocrinologyGynecologyKallmann SyndromeReproductive BiologyEmbryology +27

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

Laïla El Khattabi, Fabien Guimiot, Eva Pipiras, +34

European Journal of Human Genetics

BiologyLinkage DisequilibriumGenetic DisorderMedicineGenetics +6

Pre‐ and postnatal phenotype of 6p25 deletions involving the <i>FOXC1</i> gene

Andrée Delahaye‐Duriez, Suonavy Khung‐Savatovsky, Azzedine Aboura, +16

American Journal of Medical Genetics Part A

Dandy-walker Malformation SpectrumFoxc1 DeletionGeneticsPathologyMolecular Genetics +16

Molecular heterogeneity in fetal forms of type II lissencephaly

C Bouchet, M. Gonzalés, Sandrine Vuillaumier‐Barrot, +31

Human Mutation

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

Céline Huber, Anee-Lise Delezoide, Fabien Guimiot, +31

European Journal of Human Genetics

EngineeringMendelian DisorderGenetic DisorderMedicineGenetics +5

Contribution of Diffusion-Weighted Imaging in the Evaluation of Diffuse White Matter Ischemic Lesions in Fetuses: Correlations with Fetopathologic Findings

Fabien Guimiot, Cathérine Garel, C Fallet-Bianco, +5

American Journal of Neuroradiology

Fetal urine biochemistry at 13-23 weeks of gestation in lower urinary tract obstruction: criteria for<i>in-utero</i>treatment

W. Abdennadher, G. E. Chalouhi, Sophie Dreux, +7

Ultrasound in Obstetrics and Gynecology

Prognosis and outcome of pregnancies exposed to renin–angiotensin system blockers

Emmanuel Spaggiari, Laurence Heidet, G. Grangé, +3

Prenatal Diagnosis

<i>EFNB2</i>haploinsufficiency causes a syndromic neurodevelopmental disorder

Jonathan Lévy, Damien Haye, Nicola Marziliano, +9

Clinical Genetics