M. Portnoi

发表

Myoclonus-dystonia due to maternal uniparental disomy.

M. Vidailhet, C. Klein, E. Apartis, 2008, Archives of neurology.

Mechanisms of genesis of variant translocation in chronic myeloid leukemia are not correlated with ABL1 or BCR deletion status or response to imatinib therapy.

V. Eclache, J. Andrieux, J. Laï, 2008, Cancer genetics and cytogenetics.

Cord-blood transplantation from an unrelated donor in an adult with chronic myelogenous leukemia.

V. Barbu, P. Rubinstein, N. Gorin, 1996, The New England journal of medicine.

Skewed X-chromosome inactivation pattern in SRY positive XX maleness: a case report and review of literature.

A. Saâd, N. Bouayed Abdelmoula, T. Rebai, 2003, Annales de genetique.

A novel genetic thrombocytopenia (Paris-Trousseau) associated with platelet inclusions, dysmegakaryopoiesis and chromosome deletion AT 11q23.

P. Gaulard, R. Favier, M. Portnoï, 1993, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.

A case of ring Y chromosome

J. Taillemite, J. V. Akker, J. Bouillie, 1978, Human Genetics.

Cytogenetics and fluorescence in situ hybridization assessment of sex-chromosome mosaicism in Klinefelter's syndrome.

A. Saâd, A. Amouri, T. Rebai, 2004, Annales de genetique.

Semen analysis in subfertile balanced-translocation carriers.

N. Joye, J. Taillemite, J. van den Akker, 1980, Fertility and sterility.

[A new case of ring chromosome 9].

N. Joye, J. Taillemite, J. van den Akker, 1983, La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris.

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome

A. Afenjar, V. Drouin‐Garraud, T. Frebourg, 2007, Human mutation.

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

J. Toutain, C. Yardin, F. Vialard, 2015, European Journal of Human Genetics.

[Fetal karyotyping of fetal blood obtained from the umbilical vein using ultrasound].

F. Daffos, M. Capella-Pavlovsky, F. Forestier, 1985, Journal de gynecologie, obstetrique et biologie de la reproduction.

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

P. Validire, A. Rajkovic, E. Rajpert-De Meyts, 2018, Human molecular genetics.

Usefulness of Fluorescence in situ Hybridization for the Diagnosis of Turner Mosaic Fetuses with Small Ring X Chromosomes

M. Gonzalès, N. Berkane, J. Siffroi, 2000, Fetal Diagnosis and Therapy.

[Partial monosomy of the short arm of chromosome 10, associated with Rieger's syndrome and a Di George type partial immunodeficiency].

F. Hervé, M. Portnoi, J. Herve, 1984, Annales de pediatrie.

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11

C. Ruivenkamp, G. Annéren, J. Andrieux, 2011, European Journal of Human Genetics.

A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata

C. Petit, B. Boudailliez, M. Mathieu, 1993 .

[Partial trisonomy 22].

J. Taillemite, J. van den Akker, N. Leporrier, 1977, Annales de genetique.

French multi-centric study of 2000 amniotic fluid interphase FISH analyses from high-risk pregnancies and review of the literature.

B. Delobel, I. Luquet, F. Fellmann, 2002, Annales de genetique.

Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis

F. Denoyelle, H. Ducou le Pointe, J. Siffroi, 2010, American journal of medical genetics. Part A.