C. Piussan

发表

Homozygosity mapping of the Werner syndrome locus (WRN).

J. Weber, G. Schellenberg, E. Wijsman, 1994, Genomics.

Evaluation of D-penicillamine in juvenile chronic arthritis. A double-blind, multicenter study.

C. Griscelli, A. Prieur, P. Bordigoni, 1985, Arthritis and rheumatism.

Deletion mapping of X-linked mixed deafness (DFN3) identifies a 265-525-kb region centromeric of DXS26.

J. Mandel, D. Cohen, V. Biancalana, 1995, American journal of human genetics.

Possible person-to-person transmission of Escherichia coli O111 – associated hemolytic uremic syndrome

I. Capek, B. Boudailliez, P. Berquin, 1997, Pediatric Nephrology.

The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28.

A. Smahi, B. Peterlin, Pierre Vabres, 1994, Human molecular genetics.

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

J. Baldwin, W. Brown, J. Högel, 2015, Human mutation.

X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21.

V. Biancalana, N. Dahl, M. Mathieu, 1995, American journal of human genetics.

Toward localization of the Werner syndrome gene by linkage disequilibrium and ancestral haplotyping: lessons learned from analysis of 35 chromosome 8p11.1-21.1 markers.

E M Wijsman, G. Schellenberg, E. Wijsman, 1996, American journal of human genetics.

Failure of fluconazole treatment in Candida meningitis.

P. Berquin, C. Piussan, S. Epelbaum, 1993, The Journal of pediatrics.

Leukaemia-associated hypercalcaemia in a 10-year-old boy: effectiveness of aminohydroxypropylidene biphosphonate

B. Boudailliez, O. Kremp, B. Pautard, 1990, Pediatric Nephrology.

[Aglossia-adactylia syndrome: two new cases (author's transl)].

C. Piussan, A. Fournier, J. Cousin, 1981, Annales de pediatrie.

Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group.

G. Schellenberg, E. Wijsman, J. Nakura, 1997, American journal of human genetics.

[A new case of vaginal endodermal sinus tumor in an infant].

C. Piussan, A. Rémond, M. Audebert, 1976, Annales de pediatrie.

Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.

A. Monaco, G. Lathrop, P. Berquin, 1997, American journal of human genetics.

Coffin‐Lowry syndrome: a multicenter study

A. Verloes, M. Mathieu, A. David, 1988, Clinical genetics.

The KBG syndrome: an additional sporadic case.

B. Devauchelle, M. Mathieu, C. Piussan, 2000, Genetic counseling.

[Embryonal rhabdomyosarcoma diagnosed antenatally].

J. Canarelli, F. Flamant, B. Pautard, 1990, Archives francaises de pediatrie.

[Long-term follow-up of abused children (apropos of 65 cases)].

B. Boudailliez, J. Pautard, A. Goldfarb, 1985, Child abuse & neglect.

Fragile X mutation and FG syndrome-like phenotype.

P. Berquin, J. Fryns, M. Mathieu, 1996, American journal of medical genetics.

Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children).

M. Pelissier, C. Turc‐Carel, D. Lacombe, 1997, Annales de genetique.

Homozygous and compound heterozygous mutations at the Werner syndrome locus.

G. Schellenberg, T. Ogihara, J. Nakura, 1996, Human molecular genetics.

Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.

R. Ophoff, B. Echenne, A. Elbaz, 1995, American journal of human genetics.

[Megaloblastic anemia due to anticonvulsant therapy].

C. Piussan, J. Boissé, P. Mozziconacci, 1967, Annales de pediatrie.

Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?

A. Munnich, A. Toutain, S. Lyonnet, 1995, American journal of medical genetics.

Linkage disequilibrium and haplotype studies of chromosome 8p 11.1-21.1 markers and Werner syndrome.

G. Schellenberg, E. Wijsman, T. Ogihara, 1994, American journal of human genetics.

Hypokalemic Periodic Paralysis andtheDihydropyridine Receptor (CACNLIA3):Genotype/Phenotype Correlations forTwo Predominant Mutations andEvidence fortheAbsenceofa Founder Effect in16Caucasian Families

R. Ophoff, B. Echenne, G. Lenoir, 1995 .

Polymorphisms at the Werner locus: I. Newly identified polymorphisms, ethnic variability of 1367Cys/Arg, and its stability in a population of Finnish centenarians.

K. E. Hunt, S. Edland, S. Deeb, 1999, American journal of medical genetics.

[Carpenter's syndrome].

C. Piussan, M. Audebert, B. Risbourg, 1977, Archives francaises de pediatrie.

The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).

A. Munnich, S. Lyonnet, A. Moncla, 1993, American journal of human genetics.

X-Linked Progressive MixedDeafness: A New Microdeletion ThatInvolves a MoreProximal RegioninXq2 I

V. Biancalana, N. Dahl, M. Mathieu, 1995 .

[Acute generalized exanthematous pustulosis].

D. Rossi, B. Labeille, C. Lok, 2020, Pediatrie.

[Wiedemann and Beckwith syndrome: a new familial case].

C. Lenaerts, C. Piussan, M. Gontier, 1980, Journal de genetique humaine.

[Solitary upper incisor, hypopituitarism and monosomy 18p chromosome aberration].

B. Boudailliez, A. Goldfarb, C. Lenaerts, 1983, Journal de genetique humaine.

Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.

V. Biancalana, A. Schinzel, M. Mathieu, 1992, American journal of human genetics.

[Neurologic complications in a case of Werner syndrome].

A. Rosa, S. Canaple, H. Joly, 1996, Revue neurologique.

Statistical approaches for the detection of heterozygotes for biotinidase deficiency.

L. Eaves, W. Nance, B. Wolf, 1991, American journal of medical genetics.