simone G M gilgenkrantz | University Henri Poincare (original) (raw)
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Papers by simone G M gilgenkrantz
Ms Medecine Sciences, 2009
Human molecular …, 1994
Positional cloning has previously resulted in the Identification of a gene which Is disrupted by ... more Positional cloning has previously resulted in the Identification of a gene which Is disrupted by deletions in patients with the classic choroideremia (CHM) phenotype. More subtle mutations had been identified In 4 exons of the 3' portion but not elsewhere in the CHM gene. We ...
Nature genetics, 1997
Opitz syndrome (OS) is an inherited disorder characterized by midline defects including hypertelo... more Opitz syndrome (OS) is an inherited disorder characterized by midline defects including hypertelorism, hypospadias, lip-palate-laryngotracheal clefts and imperforate anus. We have identified a new gene on Xp22, MiD1 (Midline 1), which is disrupted in an OS patient carrying an X-chromosome inversion and is also mutated in several OS families. MIDI encodes a member of the B-box family of proteins, which contain protein-protein interaction domains, including a RING finger, and are implicated in fundamental processes such as body axis patterning and control of cell proliferation. The association of MIDI with OS suggests an important role for this gene in midline development
Ms Medecine Sciences, 2007
médecine/sciences, 2005
Ce document est protégé par la loi sur le droit d'auteur. L'utilisation des services d'Érudit (y ... more Ce document est protégé par la loi sur le droit d'auteur. L'utilisation des services d'Érudit (y compris la reproduction) est assujettie à sa politique d'utilisation que vous pouvez consulter en ligne.
Ms Medecine Sciences, 2010
M S Medecine Sciences, Nov 1, 2005
M S Medecine Sciences, Nov 1, 2005
Ms Medecine Sciences, Oct 1, 2009
Ms Medecine Sciences, Oct 1, 2009
Ms Medecine Sciences, 2008
Ms Medecine Sciences, 2008
Ms Medecine Sciences, 2007
Ms Medecine Sciences, 2007
M S Medecine Sciences, 2006
Montréal. Il a pour mission la promotion et la valorisation de la recherche. Érudit offre des ser... more Montréal. Il a pour mission la promotion et la valorisation de la recherche. Érudit offre des services d'édition numérique de documents scientifiques depuis 1998. Note : les règles d'écriture des références bibliographiques peuvent varier selon les différents domaines du savoir.
Ms Medecine Sciences, 2011
Ms Medecine Sciences, 2010
Ms Medecine Sciences, 2010
Ms Medecine Sciences, 1997
Ms Medecine Sciences, 2009
Human molecular …, 1994
Positional cloning has previously resulted in the Identification of a gene which Is disrupted by ... more Positional cloning has previously resulted in the Identification of a gene which Is disrupted by deletions in patients with the classic choroideremia (CHM) phenotype. More subtle mutations had been identified In 4 exons of the 3' portion but not elsewhere in the CHM gene. We ...
Nature genetics, 1997
Opitz syndrome (OS) is an inherited disorder characterized by midline defects including hypertelo... more Opitz syndrome (OS) is an inherited disorder characterized by midline defects including hypertelorism, hypospadias, lip-palate-laryngotracheal clefts and imperforate anus. We have identified a new gene on Xp22, MiD1 (Midline 1), which is disrupted in an OS patient carrying an X-chromosome inversion and is also mutated in several OS families. MIDI encodes a member of the B-box family of proteins, which contain protein-protein interaction domains, including a RING finger, and are implicated in fundamental processes such as body axis patterning and control of cell proliferation. The association of MIDI with OS suggests an important role for this gene in midline development
Ms Medecine Sciences, 2007
médecine/sciences, 2005
Ce document est protégé par la loi sur le droit d'auteur. L'utilisation des services d'Érudit (y ... more Ce document est protégé par la loi sur le droit d'auteur. L'utilisation des services d'Érudit (y compris la reproduction) est assujettie à sa politique d'utilisation que vous pouvez consulter en ligne.
Ms Medecine Sciences, 2010
M S Medecine Sciences, Nov 1, 2005
M S Medecine Sciences, Nov 1, 2005
Ms Medecine Sciences, Oct 1, 2009
Ms Medecine Sciences, Oct 1, 2009
Ms Medecine Sciences, 2008
Ms Medecine Sciences, 2008
Ms Medecine Sciences, 2007
Ms Medecine Sciences, 2007
M S Medecine Sciences, 2006
Montréal. Il a pour mission la promotion et la valorisation de la recherche. Érudit offre des ser... more Montréal. Il a pour mission la promotion et la valorisation de la recherche. Érudit offre des services d'édition numérique de documents scientifiques depuis 1998. Note : les règles d'écriture des références bibliographiques peuvent varier selon les différents domaines du savoir.
Ms Medecine Sciences, 2011
Ms Medecine Sciences, 2010
Ms Medecine Sciences, 2010
Ms Medecine Sciences, 1997