Scientific Commons: Stanislas Lyonnet

Evaluation of methods for amplification of picogram amounts of total RNA for whole genome expression profiling (2009)

Clément-Ziza, Mathieu, Gentien, David, Lyonnet, Stanislas, Thiery, Jean-Paul, Besmond, Claude, Decraene, Charles

Abstract Background For more than a decade, microarrays have been a powerful and widely used tool to explore the transcriptome of biological systems. However, the amount of biological material from...

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence (2009)

Benko, Sabina, Fantes, Judy A., Amiel, Judy A., Kleinjan, Dirk-Jan, Thomas, Sophie, Ramsay, Jacqueline, ...

Pierre Robin sequence (PRS) is an important subgroup of cleft palate. We report several lines of evidence for the existence of a 17q24 locus underlying PRS, including linkage analysis results, a...

Human neural crest cells display molecular and phenotypic hallmarks of stem cells (2008)

Thomas, Sophie, Thomas, Marie, Wincker, Patrick, Babarit, Candice, Xu, Puting, Speer, Marcy C., ...

The fields of both developmental and stem cell biology explore how functionally distinct cell types arise from a self-renewing founder population. Multipotent, proliferative human neural crest cells...

Stabilization of RNA during laser capture microdissection by performing experiments under argon atmosphere or using ethanol as a solvent in staining solutions (2008)

Clément-Ziza, Mathieu, Munnich, Arnold, Lyonnet, Stanislas, Jaubert, Francis, Besmond, Claude

The combination of laser capture microdissection (LCM) and gene expression experiments allows cell specific expression profiling, which is decisive in cellular transcriptomic exploration. LCM makes...

The C20orf133 gene is disrupted in a patient with Kabuki syndrome (2007)

Van De Putte, Tom, Melotte, Cindy, Sanlaville, Damien, ...

BACKGROUND: Kabuki syndrome (KS) is a rare, clinically recognisable, congenital mental retardation syndrome. The aetiology of KS remains unknown. METHODS: Four carefully selected patients with KS...

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. (2007)

Golzio, Christelle, Martinovic-Bouriel, Jelena, Thomas, Sophie, Mougou-Zrelli, Soumaya, Grattagliano-Bessieres, Bettina, Bonniere, Maryse, ...

Retinoic acid (RA) is a potent teratogen in all vertebrates when tight homeostatic controls on its endogenous dose, location, or timing are perturbed during early embryogenesis. STRA6 encodes an...

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. (2007)

Golzio, Christelle, Martinovic-Bouriel, Jelena, Thomas, Sophie, Mougou-Zrelli, Soumaya, Grattagliano-Bessieres, Bettina, Bonniere, Maryse, ...

Retinoic acid (RA) is a potent teratogen in all vertebrates when tight homeostatic controls on its endogenous dose, location, or timing are perturbed during early embryogenesis. STRA6 encodes an...

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma. (2007)

De Pontual, Loïc, Trochet, Delphine, Bourdeaut, Franck, Thomas, Sophie, Etchevers, Heather, Chompret, Agnes, ...

Neuroblastoma (NB), an embryonic tumour originating from neural crest cells, is one of the most common solid tumours in childhood. Although NB is characterised by numerous recurrent, large-scale...

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma. (2007)

De Pontual, Loïc, Trochet, Delphine, Bourdeaut, Franck, Thomas, Sophie, Etchevers, Heather, Chompret, Agnes, ...

Neuroblastoma (NB), an embryonic tumour originating from neural crest cells, is one of the most common solid tumours in childhood. Although NB is characterised by numerous recurrent, large-scale...

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma. (2007)

De Pontual, Loïc, Trochet, Delphine, Bourdeaut, Franck, Thomas, Sophie, Etchevers, Heather, Chompret, Agnes, ...

Neuroblastoma (NB), an embryonic tumour originating from neural crest cells, is one of the most common solid tumours in childhood. Although NB is characterised by numerous recurrent, large-scale...

Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes (2006)

Mougenot, Jean-Francois, Houdayer, Claude, De Blois, Marie-Christine, ...

We describe four unrelated children who were referred to two tertiary referral medical genetics units between 1991 and 2005 and who are affected with juvenile polyposis of infancy. We show that these...

Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. (2006)

Delnatte, Capucine, Sanlaville, Damien, Mougenot, Jean-Fran Ois, Vermeesch, Joris-Robert, Houdayer, Claude, Blois, Marie-Christine De, ...

We describe four unrelated children who were referred to two tertiary referral medical genetics units between 1991 and 2005 and who are affected with juvenile polyposis of infancy. We show that these...

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction (2005)

Trochet, Delphine, Hong, Seok Jong, Lim, Jin Kyu, Brunet, Jean-François, Munnich, Arnold, Kim, Kwang-Soo, ...

Heterozygous mutations of the PHOX2B gene account for a broad variety of disorders of the autonomic nervous system, either isolated or combined, including congenital central hypoventilation syndrome...

A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12 (2005)

Lossos, Alexander, Baala, Lekbir, Soffer, Dov, Averbuch-Heller, Lea, Dotan, Shlomo, Munnich, Arnold, ...

We describe a new autosomal recessive myopathy of early onset and very slow progression distinguished by the prominent external ophthalmoplegia in 16 subjects of eight families from a large and...

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction (2005)

Trochet, Delphine, Hong, Seok Jong, LIM, Jin Kyu, Brunet, Jean-François, Munnich, Arnold, Kim, Kwang-Soo, ...

Heterozygous mutations of the PHOX2B gene account for a broad variety of disorders of the autonomic nervous system (ANS), either isolated or combined, including congenital central hypoventilation...

A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12 (2004)

Lossos, Alexander, Baala, Lekbir, Soffer, Dov, Averbuch-Heller#, Lea, Dotan, Shlomo, Munnich, Arnold, ...

Summary We describe a new autosomal recessive myopathy of early onset and very slow progression distinguished by the prominent external ophthalmoplegia in 16 subjects of eight families from a large...

Polyalanine expansions in human (2004)

Amiel, Jeanne, Trochet, Delphine, Clément-Ziza, Mathieu, Munnich, Arnold, Lyonnet, Stanislas

Beside the well-known polyglutamine expansions involved in several neurodegenerative disorders, convergent recent findings pointed to the expansion of polyalanine stretches as a disease mechanism in...

A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12 (2004)

Lossos, Alexander, Baala, Lekbir, Soffer, Dov, Averbuch-Heller#, Lea, Dotan, Shlomo, Munnich, Arnold, ...

Summary We describe a new autosomal recessive myopathy of early onset and very slow progression distinguished by the prominent external ophthalmoplegia in 16 subjects of eight families from a large...

NORADRENERGIC NEURONAL DEVELOPMENT IS IMPAIRED BY MUTATION OF THE PRONEURAL HASH-1 GENE IN CONGENITAL CENTRAL HYPOVENTILATION SYNDROME (ONDINE'S CURSE) (2003)

De Pontual, Loïc, Népote, Virginie, Attié-Bitach, Tania, Al Halabiah, Hassan, Trang, Ha, Elghouzzi, Vincent, ...

Congenital central hypoventilation syndrome (CCHS, Ondine's curse) is a rare disorder of the chemical control of breathing. It is frequently associated with a broad spectrum of dysautonomic symptoms,...

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse) (2003)

De Pontual, Loïc, Népote, Virginie, Attié-Bitach, Tania, Al Halabiah, Hassan, Trang, Ha, Elghouzzi, Vincent, ...

Congenital central hypoventilation syndrome (CCHS, Ondine's curse) is a rare disorder of the chemical control of breathing. It is frequently associated with a broad spectrum of dysautonomic symptoms,...

NORADRENERGIC NEURONAL DEVELOPMENT IS IMPAIRED BY MUTATION OF THE PRONEURAL HASH-1 GENE IN CONGENITAL CENTRAL HYPOVENTILATION SYNDROME (ONDINE'S CURSE) (2003)

De Pontual, Loïc, Népote, Virginie, Attié-Bitach, Tania, Al Halabiah, Hassan, Trang, Ha, Elghouzzi, Vincent, ...

Congenital central hypoventilation syndrome (CCHS, Ondine's curse) is a rare disorder of the chemical control of breathing. It is frequently associated with a broad spectrum of dysautonomic symptoms,...

A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate (2002)

Castanet, Mireille, Park, Soo-Mi, Smith, Aaron, Bost, Michel, Léger, Juliane, Lyonnet, Stanislas, ...

Thyroid dysgenesis is the most common cause of congenital hypothyroidism (CH) and its genetic basis is largely unknown. Here, we describe the second homozygous missense mutation in TTF-2 (or FOXE1),...

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. (2000)

Bolk, Stacey, Pelet, Anna, Hofstra, Robert M. W., Angrist, Misha, Salomon, Remi, Croaker, David, ...

Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers. Hirschsprung disease (HSCR) demonstrates a complex pattern of inheritance...

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease (1995)

Attié, Tania, Till, Marianne, Pelet, Anna, Amiel, Jeanne, Edery, Patrick, Boutrand, Laetitia, ...

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease (1995)

Attié, Tania, Pelet, Anna, Edery, Patrick, Eng, Charis, Mulligan, Lois M., Amiel, Jeanne, ...

Hirschsprung disease (HSCR) is a common congenital malformation (1 in 5 000 live births) due to the absence of autonomic ganglia in the terminal hindgut, and resulting in intestinal obstruction in...

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene (1994)

Mulligan, Lois M., Eng, Charts, Attlé, Tanla, Lyonnet, Stanislas, Marsh, Debbie J., Hyland, Valentine J., ...

Mutations of the RET proto-oncogene are the underlying cause of some cases of Hlrschsprung disease (HSCR) and the Inherited cancer syndromes multiple endocrine neoplasia types 2A (MEN 2A) and 2B (MEN...

Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family (1994)

Coucke, Paul, Vits, Lleve, Camp, Guy Van, Serville, Francoise, Lyonnet, Stanislas, Kenwrick, Susan, ...

A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease (1994)

Attle, Tanla, Pelet, Anna, Sarda, Pierre, Eng, Chads, Edery, Patrick, Mulligan, Lois M., ...

Stanislas Lyonnet

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