M. Goossens

发表

Functional Analysis of Sox10 Mutations Found in Human Waardenburg-Hirschsprung Patients*

M. Wegner, C. Schmidt, E. Sock, 1998, The Journal of Biological Chemistry.

Species-specific Alternative Splice Mimicry at the Growth Hormone Receptor Locus Revealed by the Lineage of Retroelements during Primate Evolution

J. Pantel, S. Amselem, P. Duquesnoy, 2000, The Journal of Biological Chemistry.

Two Mild Cystic Fibrosis-associated Mutations Result in Severe Cystic Fibrosis When Combined in Cis and Reveal a Residue Important for Cystic Fibrosis Transmembrane Conductance Regulator Processing and Function*

A. Edelman, J. Clain, N. Arous, 2001, The Journal of Biological Chemistry.

Plasmonic DNA: Towards Genetic Diagnosis Chips

Michael Canva, Julien Moreau, Jérôme Hottin, 2007 .

One hundred spots parallel monitoring of DNA interactions by SPR imaging of polymer-functionalized surfaces applied to the detection of cystic fibrosis mutations

Nathalie Bassil, Michael Canva, Emmanuel Maillart, 2003 .

DNA immobilisation procedures for surface plasmon resonance imaging (SPRI) based microarray systems.

Michael Canva, Laure Lecerf, Ilaria Mannelli, 2007, Biosensors & bioelectronics.

Surface plasmon resonance imaging (SPRI) system and real-time monitoring of DNA biochip for human genetic mutation diagnosis of DNA amplified samples

Michael Canva, Pierre Lecaruyer, Ilaria Mannelli, 2006 .

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

A. Munnich, S. Antonarakis, N. Katsanis, 2007, Human mutation.

A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.

R. Hennekam, N. Tommerup, M. Warburg, 1999, Human molecular genetics.

Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.

M. Vidaud, M. Goossens, N. Ghanem, 1992, Genomics.

Frequent Occurrence of the CFTR Intron 8 (TG)n 5T Allele in Men with Congenital Bilateral Absence of the Vas Deferens

E. Girodon, M. Goossens, E. Flori, 1995, European journal of human genetics : EJHG.

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

S. Amselem, A. Clément, M. Goossens, 1999, American journal of human genetics.

Scanning method to establish the molecular basis of protein C deficiencies

M. Goossens, M. Aiach, S. Gandrille, 1994, Human mutation.

Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior.

M. Vidaud, D. Vidaud, S. Amselem, 1989, Genomics.

A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH‐binding activity by abolishing receptor homodimerization.

M. Preece, S. Amselem, M. Savage, 1994, The EMBO journal.

SPECTRUM OF GROWTH HORMONE RECEPTOR MUTATIONS AND ASSOCIATED HAPLOTYPES IN LARON SYNDROME

S. Amselem, M. Goossens, P. Duquesnoy, 1993, Pediatric Research.

An exon‐skipping mutation in thebtk gene of a patient with X‐linked agammaglobulinemia and isolated growth hormone deficiency

S. Amselem, P. Bougnères, M. Goossens, 1994, FEBS letters.

Two novel mutations responsible for hereditary type I protein C deficiency: Characterization by denaturing gradient gel electrophoresis

M. Vidaud, M. Goossens, J. Fiessinger, 1992, Human mutation.

Severe resistance to insulin and insulin-like growth factor-I in cells from a patient with leprechaunism as a result of two mutations in the tyrosine kinase domain of the insulin receptor.

S. Amselem, C. Desbois-Mouthon, J. Capeau, 1996, Metabolism: clinical and experimental.

Cystic Fibrosis Phenotype Associated with Pancreatic Insufficiency Does Not Always Reflect the cAMP-dependent Chloride Conductive Pathway Defect

A. Edelman, F. Garnier, M. Benharouga, 1997, The Journal of Biological Chemistry.

Hepatosplenic T-cell lymphoma: sinusal/sinusoidal localization of malignant cells expressing the T-cell receptor gamma delta.

P. Gaulard, C. Haioun, M. Goossens, 1990, Blood.

MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.

J. Kouyoumdjian, C. Cazeneuve, S. Amselem, 1999, American journal of human genetics.

A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex

Y. Barrandon, A. Hovnanian, M. Goossens, 1993, Nature Genetics.

PK MONDOR: PRENATAL DIAGNOSIS OF A FRAMESHIFT MUTATION IN THE LR PYRUVATE KINASE GENE ASSOCIATED WITH SEVERE HEREDITARY NON‐SPHEROCYTIC HAEMOLYTIC ANAEMIA

E. Girodon, F. Galactéros, M. Goossens, 1996, Prenatal diagnosis.

Evaluation of parental mitochondrial inheritance in neonates born after intracytoplasmic sperm injection.

C. Cazeneuve, S. Amselem, W. Lissens, 1999, American journal of human genetics.