N. Dagoneau

发表

In vitro readthrough of termination codons by gentamycin in the Stüve–Wiedemann Syndrome

A. Munnich, S. Bellais, C. L. Goff, 2010, European Journal of Human Genetics.

RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome

N. Dagoneau, V. Cormier-Daire, J. Laville, 2010, American journal of medical genetics. Part A.

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.

A. Munnich, R. Trembath, A. Verloes, 2003, Human molecular genetics.

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

A. Munnich, R. Gorlin, G. Collod-Béroud, 2003, Journal of medical genetics.

Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD

A. Munnich, N. Dagoneau, V. Cormier-Daire, 2004, Journal of Medical Genetics.

Protective role of cellular prion protein against TNFα-mediated inflammation through TACE α-secretase

J. Launay, A. Baudry, N. Dagoneau, 2017, Scientific Reports.

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.

A. Munnich, A. Mégarbané, L. Faivre, 2004, American journal of human genetics.

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

A. Munnich, D. Cavalcanti, S. Smithson, 2009, American journal of human genetics.

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.

A. Munnich, J. Bonaventure, J. Moreau, 2004, American journal of human genetics.

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation

A. Munnich, Y. Crow, D. Krakow, 2008, Nature Genetics.

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

A. Munnich, D. Cavalcanti, M. Vekemans, 2009, Journal of Medical Genetics.

Stüve–Wiedemann syndrome: long‐term follow‐up and genetic heterogeneity

A. Munnich, A. Mégarbané, B. Hamel, 2010, Clinical genetics.

Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.

A. Munnich, L. Al-Gazali, S. Bellais, 2007, American journal of human genetics.

Genetic homogeneity of the Camurati–Engelmann disease

A. Munnich, N. Dagoneau, V. Cormier-Daire, 2000, Clinical genetics.

LIFR (leukemia inhibitory factor receptor alpha)

N. Dagoneau, V. Cormier-Daire, 2011 .

Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndrome.

N. Dagoneau, V. Cormier-Daire, J. Corona-Rivera, 2009, European journal of medical genetics.

Long‐term follow‐up in Stuve–Wiedemann syndrome: A clinical report

R. Hennekam, N. Dagoneau, P. Cabral, 2008, American journal of medical genetics. Part A.

A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31.

A. Munnich, O. Dulac, R. Nabbout, 2000, American journal of human genetics.

SHOX point mutations in dyschondrosteosis

A. Munnich, N. Dagoneau, V. Cormier-Daire, 2001, Journal of medical genetics.

Functional analysis of an ADAMTS10 signal peptide mutation in Weill‐Marchesani syndrome demonstrates a long‐range effect on secretion of the full‐length enzyme

Elias I. Traboulsi, Suneel S. Apte, E. Traboulsi, 2008, Human mutation.

Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

A. Munnich, A. Prieur, P. Woo, 2000, American journal of medical genetics.

Identification of mutations in CUL7 in 3-M syndrome

A. Munnich, P. Scambler, R. Hennekam, 2005, Nature Genetics.

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

A. Munnich, K. Devriendt, R. Hennekam, 2011, Journal of Medical Genetics.

Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1

A. Munnich, A. Mégarbané, V. El Ghouzzi, 2002, Journal of medical genetics.

Clinical and genetic heterogeneity of Seckel syndrome.

A. Munnich, A. Verloes, S. Lyonnet, 2002, American journal of medical genetics.

Protective role of cellular prion protein against TNFα-mediated inflammation through TACE α-secretase

J. Launay, A. Baudry, N. Dagoneau, 2017, Scientific Reports.

A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33–34

A. Munnich, B. Isidor, B. Bader-Meunier, 2007, Human Genetics.