T. Attié

发表

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.

L. Mulligan, C. Eng, D. Marsh, 1994, Human molecular genetics.

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.

A. Munnich, L. Mulligan, C. Eng, 1995, Human molecular genetics.

C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease.

A. Munnich, S. Lyonnet, P. Caron, 1996, The Journal of clinical endocrinology and metabolism.

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease.

A. Munnich, R. Touraine, R. Salomon, 1998, Human molecular genetics.

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease

A. Munnich, R. Salomon, C. Eng, 1996, Nature Genetics.

Fetal MRI findings in a retrospective cohort of 26 cases of prenatally diagnosed CHARGE syndrome individuals

N. Boddaert, P. Sonigo, L. Salomon, 2019, Prenatal diagnosis.

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.

A. Munnich, S. Lyonnet, J. Amiel, 1995, Human molecular genetics.

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

A. Munnich, R. Hofstra, R. Hofstra, 1996, Nature Genetics.

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.

P. Tam, A. Munnich, D. Lacombe, 1996, Human molecular genetics.

Endothelin-3 Gene Mutations in Isolated and Syndromic Hirschsprung Disease

A. Munnich, R. Salomon, S. Lyonnet, 1997, European journal of human genetics : EJHG.

Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.

A. Munnich, S. Lyonnet, M. Till, 1995, Journal of medical genetics.

PMX2B, a new candidate gene for Hirschsprung's disease

M. Vekemans, J. Amiel, B. Laudier, 2003, Clinical genetics.

Mutations of the RET-GDNF signaling pathway in Ondine's curse.

A. Munnich, R. Salomon, S. Lyonnet, 1998, American journal of human genetics.

Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines

G. D. Vita, M. Santoro, A. Fusco, 1998, Oncogene.

Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer

M Vekemans, M. Lovett, E. Jabs, 2005, Journal of Medical Genetics.

Podocin localizes in the kidney to the slit diaphragm area.

O. Gribouval, C. Antignac, M. Gubler, 2002, The American journal of pathology.

A gene for Meckel syndrome maps to chromosome 11q13.

A. Munnich, E. Génin, C. Fallet-Bianco, 1998, American journal of human genetics.

First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency

A. Munnich, N. Frydman, R. Frydman, 2000, Prenatal diagnosis.

[Genetics of Hirschsprung disease].

A. Munnich, R. Salomon, S. Lyonnet, 1996, Comptes rendus des seances de la Societe de biologie et de ses filiales.

Waardenburg-Hirschsprung Disease in Two Sisters: A Possible Clue to the Genetics of this Association?

S. Lyonnet, M. Till, P. Edery, 1996, European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie.

A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease.

B. Ponder, A. Munnich, L. Mulligan, 1994, Human molecular genetics.

Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

L. Mulligan, D. Bonneau, L. Abel, 1994, Journal of medical genetics.

Birth of healthy female twins after preimplantation genetic diagnosis of cystic fibrosis combined with gender determination.

A. Munnich, N. Frydman, R. Frydman, 2002, Molecular human reproduction.

Regional and cellular specificity of the expression of TPRD, the tetratricopeptide Down syndrome gene, during human embryonic development

J. Delabar, M. Vekemans, M. Rachidi, 2000, Mechanisms of Development.

Feasibility and Added Value of Fetal DTI Tractography in the Evaluation of an Isolated Short Corpus Callosum: Preliminary Results

N. Boddaert, P. Sonigo, I. Desguerre, 2021, American Journal of Neuroradiology.

A novel polymorphism in the coding sequence of the human RET proto-oncogene

A. Munnich, L. Mulligan, C. Eng, 1994, Human Genetics.

De-novo mutations of the RET proto-oncogene in Hirschsprung's disease

A. Munnich, C. Eng, S. Lyonnet, 1994, The Lancet.

Mutations in exon 10 of the RET proto-oncogene in Hirschsprung`s disease

L. Mulligan, C. Eng, T. Attié, 1994 .

Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.

A. Munnich, G. Lenoir, S. Lyonnet, 1998, The Journal of clinical investigation.