B. le Marec

发表

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

C. T. Morgan, A. Munnich, S. Antonarakis, 2003, Human molecular genetics.

Excess twinning in the parents of spina bifida.

M. Roussey, B. le Marec, J. Oger, 1978, Progress in clinical and biological research.

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

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

Obstructive azoospermia with agenesis of vas deferens or with bronchiectasia (Young's syndrome): a genetic approach.

D. Le Lannou, M. Blayau, P. Jézéquel, 1995, Human reproduction.

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.

Segregation analysis in nonsyndromic holoprosencephaly.

A. Munnich, C. Bonaïti‐pellié, S. Odent, 1998, American journal of medical genetics.

French-Canadian M IV Phenylketonuria Mutation in France

S. Lyonnet, S. John, R. Laframboise, 2006 .

Opsismodysplasia: a new type of chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae.

P. Maroteaux, B. le Marec, H. Lejarraga, 1984, American journal of medical genetics.

Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France.

S. Lyonnet, S. John, R. Laframboise, 1992, American journal of human genetics.

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.

A. Munnich, M. Vekemans, T. Attié-Bitach, 1999, Human molecular genetics.

Remarks about the prognosis in case of antenatal diagnosis of gastroschisis.

S. Odent, P. Poulain, B. le Marec, 1994, European journal of obstetrics, gynecology, and reproductive biology.

Meiotic behaviour of familial pericentric inversions of chromosomes 1 and 9.

Y. Rumpler, M. Guichaoua, J. Luciani, 1986, Annales de genetique.

Structural genes of coagulation factors VII and X located on 13q34.

M. Briquel, P. Pouzol, B. le Marec, 1986, Annales de genetique.

[Dermatoglyphic study: a useful sign for the diagnosis of cerebral gigantism. Apropos of 4 cases].

B. le Marec, M. Lecornu, 1976, Pediatrie.

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.

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

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

[Primary dentition in trisomy 21. Apropos 114 children followed-up regularly].

H. Journel, M. Roussey, B. le Marec, 1986, Annales de pediatrie.

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

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

[Doppler echocardiography in the evaluation of volume expansion effects in newborn infants].

P. Pladys, P. Bétrémieux, B. le Marec, 1994, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

[Esophageal duplication with pleural effusion in antenatal diagnosis].

P. Pladys, P. Bétrémieux, C. Treguier, 1988, Archives francaises de pediatrie.

[Moya-Moya or Nishimoto's disease. Apropos of 3 cases].

B. le Marec, G. Guy, J. Simon, 1973, Pediatrie.

[Congenital diaphragmatic hernia with a late disclosure].

C. Treguier, H. Journel, B. Frémond, 1989, Pediatrie.

Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review.

A. Toutain, J. Fryns, A. Verloes, 1998, American journal of medical genetics.

Retinoblastoma, deletion 13q14, and esterase D: application of gene dosage effect to prenatal diagnosis.

C. Junien, C. Turleau, S. Despoisse, 1982, Cancer genetics and cytogenetics.

[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.

Fetal ascites and oligohydramnios: Prenatal diagnosis of a sialic acid storage disease (index case)

S. Odent, P. Poulain, I. Maire, 1995, Prenatal diagnosis.

Mapping of a congenital microcoria locus to 13q31-q32.

C. Orssaud, L. Bachner, J. Dufier, 1998, American journal of human genetics.

Prenatal diagnosis of familial tuberous sclerosis following detection of cardiac rhabdomyoma by ultrasound

H. Journel, M. Roussey, B. le Marec, 1986, Prenatal diagnosis.

[Case of early hydrocephalus in mucopolysaccharidosis type 1].

J. L. Le Gall, Y. Gandon, M. Roussey, 1983, Pediatrie.

Genetic counselling in unexpected familial recurrence of achondroplasia.

B. le Marec, P. Dodinval, 1987, American journal of medical genetics.

Gastric carcinoma in Sotos syndrome (cerebral gigantism).

L. Pasquier, C. Dugast, S. Odent, 1999, Annales de genetique.

[Neural tube defects (spina bifida and anencephaly) in Brittany].

H. Journel, P. Parent, M. Roussey, 1985, Pediatrie.

[Congenital intrahepatic arterio-portal fistula: diagnostic and therapeutic aspects].

F. Brunelle, C. Treguier, B. Frémond, 1993, Pediatrie.

MCA/MR syndrome with oligodactyly and Möbius anomaly in first cousins: new syndrome or familial facial-limb disruption sequence?

H. Journel, M. Roussey, B. le Marec, 1989, American journal of medical genetics.

[Selective interruption of pregnancy and embryonic malformations of the limbs].

H. Jouan, B. le Marec, J. Grall, 1989, Journal de gynecologie, obstetrique et biologie de la reproduction.

The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52.

C. Dubay, S. Lyonnet, A. Pelet, 1992, Genomics.

[Trisomy 18 with prolonged survival. Case report of a girl followed to 6 years of age].

C. Le Berre, M. Roussey, B. le Marec, 1979, Pediatrie.

[The fertility of trisomy 21 sufferers. One case (author's transl)].

B. le Marec, F. Picard, J. Grall, 1978, La Nouvelle presse medicale.

[Oto-palato-digital type I syndrome in five generations. Relationship to the type II form].

S. Odent, B. le Marec, J. Babut, 1988, Annales de genetique.

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.