J. Augé

发表

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

A. Munnich, M. Gonzalès, M. Gubler, 2005, American journal of human genetics.

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.

A. Munnich, R. Touraine, W. Doerfler, 2000, American journal of human genetics.

Gene expression in pharyngeal arch 1 during human embryonic development.

David N. Messina, M. Lovett, E. Jabs, 2005, Human molecular genetics.

Expression of the RET proto-oncogene in human embryos.

A. Munnich, S. Lyonnet, M. Vekemans, 1998, American journal of medical genetics.

Interstitial duplication of the short arm of chromosome 2: report of a new case and review.

A. Mégarbané, M. Vekemans, D. Theophile, 1997, Journal of medical genetics.

Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation

A. Munnich, P. Sonderegger, D. Bacq, 2002, Science.

Absence of genomic imprinting at the DiGeorge locus.

M. Vekemans, D. Theophile, J. Augé, 1994, Acta geneticae medicae et gemellologiae.

PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations.

M. Polak, P. Czernichow, M. Vekemans, 2005, The Journal of clinical endocrinology and metabolism.

Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome

A. Munnich, G. Meroni, D. Lacombe, 2004, Journal of Medical Genetics.

Expression of the SMADIP1 gene during early human development

A. Munnich, S. Lyonnet, Y. Espinosa-Parrilla, 2002, Mechanisms of Development.

Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome.

A. Munnich, S. Lyonnet, M. Vekemans, 2000, American journal of medical genetics.

Expression of the sonic hedgehog gene in human embryos with neural tube defects.

M. Vekemans, F. Encha-Razavi, T. Attié-Bitach, 2000, Teratology.

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).

Arnold Munnich, Michel Simonneau, François Guillemot, 2003, Human molecular genetics.

PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism

A. Munnich, R. Salomon, C. Antignac, 2000, European 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.