S. Odent

发表

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.

D. Wieczorek, M. Muenke, S. A. Brown, 2001, Human molecular genetics.

Anne de Saint Martin, I. Scheffer, H. Mefford, 2019 .

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

A. Toutain, P. Calvas, N. Chassaing, 2014, Clinical genetics.

NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos

I. Gicquel, V. Dupé, L. Ratié, 2013, Development.

NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos

I. Gicquel, V. Dupé, L. Ratié, 2022 .

Delineation of 15q13.3 microdeletions

M. Holder, L. Vallée, B. Gilbert-Dussardier, 2010, Clinical genetics.

Segregation analysis in nonsyndromic holoprosencephaly.

A. Munnich, C. Bonaïti‐pellié, S. Odent, 1998, American journal of medical genetics.

Integrated Clinical and Omics Approach to Rare Diseases: Novel Genes and Oligogenic Inheritance in Holoprosencephaly

Artem Kim, Clara Savary, W. Carré, 2018, bioRxiv.

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

W. Carré, C. Mouden, V. Dupé, 2016, Clinical genetics.

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

I Scala, Alain Verloes, M. Elmaleh, 2009, Neurology.

Mutations in PHD‐like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome

A. Munnich, N. Philip, H. Van Esch, 2006, Clinical genetics.

Features of DiGeorge syndrome and CHARGE association in five patients.

A. Munnich, S. Lyonnet, M. Vekemans, 1997, Journal of medical genetics.

PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.

S. Mazoyer, L. Pasquier, G. Lesca, 2023, European Journal of Medical Genetics.