Publications and ressources

Mouse models of Hirschsprung disease and other developmental disorders of the enteric nervous system: Old and new players.

Nadège Bondurand

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Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.

Jeanne Amiel, Stanislas Lyonnet, Loïc de Pontual, Damien Bonnet, Patrick Nitschké, Chris Gordon, Anne Guimier

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Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.

Nadège Bondurand, Véronique Pingault

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MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

Jeanne Amiel, Chris Gordon, Stanislas Lyonnet, Patrick Nitschké, Loïc de Pontual, Damien Bonnet, Anne Guimier

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Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.

Jeanne Amiel, Stanislas Lyonnet, Patrick Nitschké, Chris Gordon

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Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

Jeanne Amiel, Stanislas Lyonnet, Patrick Nitschké, Chris Gordon

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EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.

Jeanne Amiel, Stanislas Lyonnet, Loïc de Pontual, Sandrine Marlin, Chris Gordon

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Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans.

Jeanne Amiel

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

Stanislas Lyonnet, Sabina Benko, Jeanne Amiel, Sophie Thomas, Anna Pelet, Chris Gordon

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Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma.

Jeanne Amiel

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