J. Lucas

发表

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

P. Elliott, M. Jarvelin, C. Gieger, 2011, Nature.

Opitz GBBB syndrome: chromosomal evidence of an X-linked form.

A. Toutain, A. Verloes, S. Odent, 1995, American journal of medical genetics.

Karyotype is not dead (yet)!

L. Pasquier, E. Colin, M. Fradin, 2016, European journal of medical genetics.

Genetic counseling and “molecular” prenatal diagnosis of holoprosencephaly (HPE)

L. Pasquier, S. Mercier, S. Odent, 2010, American journal of medical genetics. Part C, Seminars in medical genetics.

Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype–phenotype correlation

A. Verloes, L. Pasquier, P. Marcorelles, 2014, American journal of medical genetics. Part A.

Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.

D. Lacombe, L. Pasquier, L. Loeuillet, 2009, European journal of medical genetics.

Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

A. Toutain, A. Verloes, L. Pasquier, 2015, American journal of medical genetics. Part A.

New insights into the pathogenesis of beckwith–wiedemann and silver–russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

L. Faivre, A. El-Osta, C. Gicquel, 2011, Human mutation.

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

L. Pasquier, M. Gerard-Blanluet, A. Aboura, 2008, Journal of Medical Genetics.

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.

J. Mosser, A. Toutain, A. Verloes, 2010, European journal of medical genetics.

Phenotypic variability of a 4q34-->qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother.

I. Gicquel, L. Pasquier, S. Odent, 2007, European journal of medical genetics.

46,XX,t(15;21)/47,XX,15p-,+21 mosaicism in a child with Down's syndrome.

H. Journel, J. Lucas, B. le Marec, 1986, Annales de genetique.

Postnatal diagnosis of 9q interstitial imbalances involving PTCH1, resulting from a familial intrachromosomal insertion.

L. Pasquier, S. Odent, C. Dubourg, 2014, European journal of medical genetics.

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.

L. Pasquier, P. Latour, J. Andrieux, 2009, European journal of medical genetics.

Trisomy 11p15 and Beckwith-Wiedemann syndrome. Report of two new cases.

C. Allaire, H. Journel, J. Lucas, 1985, Annales de genetique.

[Height and weight development and auxology in trisomy 21 in Brittany].

P. Bétrémieux, H. Journel, P. Parent, 1986, Annales de pediatrie.

Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome.

A. Munnich, S. Odent, C. Turleau, 1999, American journal of medical genetics.

Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?

A. Poustka, M. Pembrey, L. Villard, 2000, American journal of medical genetics.

[De novo interstitial deletion of the long arm of chromosome 2: 46,XXX,del(2)(q14q21), associated with premature craniosynostosis].

J. Lucas, F. Picard, S. Hubert, 1987, Annales de genetique.

[Trisomy 20p derived from a maternal pericentric inversion and brachymesophalangy of the index finger].

H. Journel, J. Lucas, B. le Marec, 1985, Annales de genetique.

5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects

J. Mosser, J. Andrieux, C. Treguier, 2011, American journal of medical genetics. Part A.

Prader-Willi syndrome and polygonosomal abnormalities in males:about a Prader-Willi/47,XYY patient.

S. Odent, J. Lucas, B. le Marec, 2001, Annales de genetique.

[Epilepsy and trisomy 21. Apropos of 27 cases].

C. Le Berre, P. Bétrémieux, H. Journel, 1986, Annales de pediatrie.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

P. Elliott, M. Jarvelin, C. Gieger, 2021 .

Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect.

S. Odent, P. Poulain, C. Dubourg, 2011, European journal of medical genetics.

Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

A. Toutain, A. Verloes, L. Pasquier, 2015, American journal of medical genetics. Part A.

New insights into the pathogenesis of beckwith–wiedemann and silver–russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

L. Faivre, A. El-Osta, C. Gicquel, 2011, Human mutation.