S. Audollent

发表

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

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

BBS 10 mutations are frequent in “ Meckel ” type cystic kidneys

Marie-Pierre, Sophie, R. Bouvier, 2018 .

BBS10 mutations are common in ‘Meckel’-type cystic kidneys

R. Salomon, M. Gubler, R. Bouvier, 2010, Journal of Medical Genetics.

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype–phenotype correlation

A. Munnich, N. Boddaert, R. Salomon, 2009, Human mutation.

JAGGED1 Gene Expression During Human Embryogenesis Elucidates the Wide Phenotypic Spectrum of Alagille Syndrome

M. Vekemans, F. Encha-Razavi, M. Hadchouel, 2000, Hepatology.

Expanding CEP290 mutational spectrum in ciliopathies

E. Bertini, F. Brancati, E. Valente, 2009, American journal of medical genetics. Part A.

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.

Colin A. Johnson, I. Glass, F. Brancati, 2008, American journal of human genetics.

with expression during human development truncating mutations correlates CHD7 fetuses with Phenotypic spectrum of CHARGE syndrome in

A. Munnich, C. Cruaud, M. Gonzalès, 2009 .

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

J. Weissenbach, A. Munnich, C. Cruaud, 2005, Journal of Medical Genetics.

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 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.

Familial CHARGE syndrome because of CHD7 mutation: clinical intra‐ and interfamilial variability

A. Verloes, S. Lyonnet, C. Baumann, 2007, Clinical genetics.

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

Colin A. Johnson, A. Munnich, E. Génin, 2007, American journal of human genetics.

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

Colin A. Johnson, A. Munnich, N. Boddaert, 2007, American journal of human genetics.

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype‐phenotype correlation

Colin A. Johnson, Arnold Munnich, Fiona Macdonald, 2007, Human mutation.

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

A. Munnich, R. Salomon, C. Antignac, 2000, European Journal of Human Genetics.