S. Kanafani

发表

Classical West “syndrome” phenotype with a subtelomeric 4p trisomy

A. Verloes, M. Gerard-Blanluet, S. Romana, 2004, American journal of medical genetics. Part A.

Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia

A. Smahi, I. Berthaut, J. Siffroi, 2001, Journal of medical genetics.

Sex chromosome mosaicism in males carrying Y chromosome long arm deletions.

L. Quintana-Murci, I. Seifer, M. Fellous, 2000, Human reproduction.

Incidence of AZF (Azoospermia Factor) Deletions and Familial Forms of Infertility Among Patients Requiring Intracytoplasmic Spermatozoa Injection (ICSI)

J. Selva, M. Bergère, Y. Prigent, 1997, Journal of Assisted Reproduction and Genetics.

Chromosome segregation in an infertile man carrying a unique pericentric inversion, inv(21)(p12q22.3), analysed using fluorescence in situ hybridization on sperm nuclei: significance for clinical genetics. A case report.

J. Wolf, B. Benzacken, E. Pipiras, 2006, Human reproduction.

De novo Subtelomeric Deletion Additional to an Inherited Apparently Balanced Reciprocal Translocation

M. Gerard-Blanluet, F. Encha-Razavi, J. Wolf, 2007, Fetal Diagnosis and Therapy.

Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis

M. Pilorge, C. Betancur, A. Verloes, 2010, American journal of medical genetics. Part A.

First cryptic balanced reciprocal translocation mosaicism and familial transmission

A. Aboura, B. Benzacken, C. Dupont, 2008, American journal of medical genetics. Part A.

Prenatal detection of Pierre Robin sequence with deletion Xp and additional trisomy 14q by telomere screening

A. Verloes, M. Gonzalès, M. Gerard-Blanluet, 2007, Prenatal diagnosis.

Semilobar holoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype

C. Garel, P. Gressens, L. Carbillon, 2007, Prenatal Diagnosis.