C. Philippe

发表

Amniotic fluid alpha‐fetoprotein is not a useful biological marker of pregnancy outcome

J. Benichou, L. Marpeau, E. Verspyck, 1999, Prenatal diagnosis.

Use of the Kleihauer test to detect fetal erythroblasts in the maternal circulation

M. Marchand, P. Jonveaux, V. Martel‐Petit, 2001 .

Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females

C. Philippe, P. Jonveaux, C. Francannet, 2009, Journal of Medical Genetics.

The signal transducer and activator of transcription STAT5b gene is a new partner of retinoic acid receptor alpha in acute promyelocytic-like leukaemia.

R. Berger, C. Philippe, P. Jonveaux, 1999, Human molecular genetics.

A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility.

S. Bione, G. Borsani, A. Ballabio, 1998, American journal of human genetics.

Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21.

C. Philippe, P. Jonveaux, D. Toniolo, 1997, Genomics.

A retrospective study by oligonucleotide array‐CGH analysis in 50 fetuses with multiple malformations

C. Philippe, P. Jonveaux, B. Foliguet, 2010, Prenatal diagnosis.

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.

L. Pasquier, C. Philippe, P. Jonveaux, 2006, European journal of medical genetics.

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy

C. Philippe, P. Jonveaux, J. Chelly, 2007, Journal of Medical Genetics.