A. Ion

发表

Hypertelorism and hypospadias associated with a de novo apparently balanced translocation between 8q22.3-23 and 20p13.

M. Fellous, K. McElreavey, A. Tar, 1997, American journal of medical genetics.

A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient.

B. Dallapiccola, A. Pizzuti, V. Guida, 2002, Investigative ophthalmology & visual science.

Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype

H. Ostrer, M. Jobling, R. Veitia, 1997, Human Genetics.

Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb

A. Pizzuti, R. Mingarelli, L. Stuppia, 2000, European Journal of Human Genetics.

Gonadal dysgenesis in del(18p) syndrome.

A. Bernheim, Y. Le Bouc, J. Chaussain, 1995, American journal of medical genetics.

Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion

E. Vilain, M. Fellous, K. McElreavey, 1995, Human Genetics.

Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2,DCN, EPS8, andRPL6

D. Page, E. Mariman, R. Kucherlapati, 2000, Journal of medical genetics.

The genetic basis of murine and human sex determination: a review

M. Fellous, K. McElreavey, A. Ion, 1995, Heredity.

A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome.

M. Fellous, K. McElreavey, F. Galactéros, 1996, American journal of human genetics.

Abnormal sex differentiation and multiple congenital abnormalities in a subject harbouring an apparently balanced (6;8) translocation

A. Ion, H. Copin, A. Lesourd, 2000, Journal of medical genetics.

A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.

M. Fellous, G. Ponsot, K. McElreavey, 1996, Journal of medical genetics.