Search Results - "Clauin, Séverine" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia

Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia

by Schmaltz-Panneau, Barbara, Pagnier, Anne, Clauin, Séverine, Buratti, Julien, Marty, Caroline, Fenneteau, Odile, Dieterich, Klaus, Beaupain, Blandine, Donadieu, Jean, Plo, Isabelle, Bellanné-Chantelot, Christine
Published in Haematologica (Roma) (01.04.2021)

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Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome

by Bellanné-Chantelot, Christine, Schmaltz-Panneau, Barbara, Marty, Caroline, Fenneteau, Odile, Callebaut, Isabelle, Clauin, Séverine, Docet, Aurélie, Damaj, Gandhi-Laurent, Leblanc, Thierry, Pellier, Isabelle, Stoven, Cécile, Souquere, Sylvie, Antony-Debré, Iléana, Beaupain, Blandine, Aladjidi, Nathalie, Barlogis, Vincent, Bauduer, Frédéric, Bensaid, Philippe, Boespflug-Tanguy, Odile, Berger, Claire, Bertrand, Yves, Carausu, Liana, Fieschi, Claire, Galambrun, Claire, Schmidt, Aline, Journel, Hubert, Mazingue, Françoise, Nelken, Brigitte, Quah, Thuan Chong, Oksenhendler, Eric, Ouachée, Marie, Pasquet, Marlène, Saada, Véronique, Suarez, Felipe, Pierron, Gérard, Vainchenker, William, Plo, Isabelle, Donadieu, Jean
Published in Blood (20.09.2018)

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Large Genomic Rearrangements in the Hepatocyte Nuclear Factor-1β (TCF2) Gene Are the Most Frequent Cause of Maturity-Onset Diabetes of the Young Type 5

Large Genomic Rearrangements in the Hepatocyte Nuclear Factor-1β (TCF2) Gene Are the Most Frequent Cause of Maturity-Onset Diabetes of the Young Type 5

by BELLANNE-CHANTELOT, Christine, CLAUIN, Séverine, LALOI-MICHELIN, Marie, JACQUESSON, Laetitia, LARGER, Etienne, LOUIS, Jacques, NICOLINO, Marc, SUBRA, Jean-Francois, WILHEM, Jean-Marie, YOUNG, Jacques, VELHO, Gilberto, TIMSIT, José, CHAUVEAU, Dominique, COLLIN, Philippe, DAUMONT, Michèle, DOUILLARD, Claire, DUBOIS-LAFORGUE, Danièle, DUSSELIER, Laurent, GAUTIER, Jean-Francois, JADOUL, Michel
Published in Diabetes (New York, N.Y.) (01.11.2005)

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Fertility in Women with Nonclassical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Fertility in Women with Nonclassical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

by Bidet, Maud, Bellanné-Chantelot, Christine, Galand-Portier, Marie-Béatrice, Golmard, Jean-Louis, Tardy, Véronique, Morel, Yves, Clauin, Séverine, Coussieu, Christiane, Boudou, Philippe, Mowzowicz, Irene, Bachelot, Anne, Touraine, Philippe, Kuttenn, F
Published in The journal of clinical endocrinology and metabolism (01.03.2010)

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Update of mutations in the genes encoding the pancreatic beta-cell K ATP channel subunits Kir6.2 ( KCNJ11 ) and sulfonylurea receptor 1 ( ABCC8 ) in diabetes mellitus and hyperinsulinism

Update of mutations in the genes encoding the pancreatic beta-cell K ATP channel subunits Kir6.2 ( KCNJ11 ) and sulfonylurea receptor 1 ( ABCC8 ) in diabetes mellitus and hyperinsulinism

by Flanagan, Sarah E., Clauin, Séverine, Bellanné-Chantelot, Christine, de Lonlay, Pascale, Harries, Lorna W., Gloyn, Anna L., Ellard, Sian
Published in Human mutation (01.02.2009)

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Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys

Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys

by DECRAMER, Stéphane, PARANT, Olivier, BEAUFILS, Sandrine, CLAUIN, Séverine, GUILLOU, Cécile, KESSLER, Sylvie, AZIZA, Jacqueline, BANDIN, Flavio, SCHANSTRA, Joost P, BELLANNE-CHANTELOT, Christine
Published in Journal of the American Society of Nephrology (01.03.2007)

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Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

by Mefford, Heather C., Clauin, Séverine, Sharp, Andrew J., Moller, Rikke S., Ullmann, Reinhard, Kapur, Raj, Pinkel, Dan, Cooper, Gregory M., Ventura, Mario, Ropers, H. Hilger, Tommerup, Niels, Eichler, Evan E., Bellanne-Chantelot, Christine
Published in American journal of human genetics (01.11.2007)

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Renal phenotypes related to hepatocyte nuclear factor-1β (TCF2) mutations in a pediatric cohort

Renal phenotypes related to hepatocyte nuclear factor-1β (TCF2) mutations in a pediatric cohort

by ULINSKI, Tim, LESCURE, Sandra, BELLANNE-CHANTELOT, Christine, BEAUFILS, Sandrine, GUIGONIS, Vincent, DECRAMER, Stéphane, MORIN, Denis, CLAUIN, Séverine, DESCHENES, Georges, BOUISSOU, Francois, BENSMAN, Albert
Published in Journal of the American Society of Nephrology (01.02.2006)

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Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia

Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia

by Kraus, Marine R.-C., Clauin, Séverine, Pfister, Yvan, Di Maïo, Massimo, Ulinski, Tim, Constam, Daniel, Bellanné-Chantelot, Christine, Grapin-Botton, Anne
Published in Human mutation (01.01.2012)

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Novel Mutations in CYP21 Detected in Individuals with Hyperandrogenism

Novel Mutations in CYP21 Detected in Individuals with Hyperandrogenism

by Lajić, Svetlana, Clauin, Séverine, Robins, Tiina, Vexiau, Patrick, Blanché, Hélène, Bellanne-Chantelot, Christine, Wedell, Anna
Published in The journal of clinical endocrinology and metabolism (01.06.2002)

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Update of mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism

Update of mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism

by Flanagan, Sarah E, Clauin, Séverine, Bellanné-Chantelot, Christine, de Lonlay, Pascale, Harries, Lorna W, Gloyn, Anna L, Ellard, Sian
Published in Human mutation (01.02.2009)

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Exonic Duplication of the Hepatocyte Nuclear Factor-1β Gene (Transcription Factor 2, Hepatic) as a Cause of Maturity Onset Diabetes of the Young Type 5

Exonic Duplication of the Hepatocyte Nuclear Factor-1β Gene (Transcription Factor 2, Hepatic) as a Cause of Maturity Onset Diabetes of the Young Type 5

by Carette, Claire, Vaury, Christelle, Barthélémy, Anne, Clauin, Séverine, Grünfeld, Jean-Pierre, Timsit, José, Bellanné-Chantelot, Christine
Published in The journal of clinical endocrinology and metabolism (01.07.2007)

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Maturity onset diabetes of the young: clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: a single center experience

Maturity onset diabetes of the young: clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: a single center experience

by Poitou, Caroline, Francois, Hélène, Bellanne-Chantelot, Christine, Noel, Christian, Jacquet, Antoine, Clauin, Séverine, Beaudreuil, Séverine, Damieri, Hani, Hebibi, Hadia, Hammoudi, Yacine, Benoit, Gérard, Charpentier, Bernard, Durrbach, Antoine
Published in Transplant international (01.05.2012)

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Clinical spectrum associated with hepatocyte nuclear factor-1β mutations

Clinical spectrum associated with hepatocyte nuclear factor-1β mutations

by BELLANNE-CHANTELOT, Christine, CHAUVEAU, Dominique, TIMSIT, Josh, GAUTIER, Jean-Francois, DUBOIS-LAFORGUE, Danièle, CLAUIN, Séverine, BEAUFILS, Sandrine, WILHELM, Jean-Marie, BOITARD, Christian, NOËL, Laure-Hélène, VELHO, Gilberto
Published in Annals of internal medicine (06.04.2004)

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Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome

by Bellanné-Chantelot, Christine, Schmaltz-Panneau, Barbara, Marty, Caroline, Fenneteau, Odile, Callebaut, Isabelle, Clauin, Séverine, Docet, Aurélie, Damaj, Gandhi-Laurent, Leblanc, Thierry, Pellier, Isabelle, Stoven, Cécile, Souquere, Sylvie, Antony-Debré, Iléana, Beaupain, Blandine, Aladjidi, Nathalie, Barlogis, Vincent, Bauduer, Frédéric, Bensaid, Philippe, Boespflug-Tanguy, Odile, Berger, Claire, Bertrand, Yves, Carausu, Liana, Fieschi, Claire, Galambrun, Claire, Schmidt, Aline, Journel, Hubert, Mazingue, Françoise, Nelken, Brigitte, Quah, Thuan Chong, Oksenhendler, Eric, Ouachée, Marie, Pasquet, Marlène, Saada, Véronique, Suarez, Felipe, Pierron, Gérard, Vainchenker, William, Plo, Isabelle, Donadieu, Jean
Published in Blood (20.09.2018)

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Mutations in SRP54 Gene Cause Severe Primary Neutropenia As Well As Shwachman-Diamond-like Syndrome

Mutations in SRP54 Gene Cause Severe Primary Neutropenia As Well As Shwachman-Diamond-like Syndrome

by Bellanné-Chantelot, Christine, Marty, Caroline, Schmaltz-Panneau, Barbara, Fenneteau, Odile, Callebaut, Isabelle, Clauin, Séverine, Docet, Aurélie, Damaj, Gandhi, Leblanc, Thierry, Pellier, Isabelle, Stoven, Cécile, Souquere, Sylvie, Antony-Debre, Iléana, Beaupain, Blandine, Aladjidi, Nathalie, Barlogis, Vincent, Bauduer, Frederic, Bensaid, Philippe, Boesflug-Tanguy, Odile, Berger, Claire, Bertrand, Yves, Carausu, Liana, Fieschi, Claire, Galambrun, Claire, Schmidt, Aline, Journel, Hubert, Mazingue, Francoise, Nelken, Brigitte, Quah, Thuan Chong, Oksenhendler, Eric, Ouachee, Marie, Pasquet, Marlène, Suarez, Felipe, Pierron, Gérard, Vainchenker, William, Plo, Isabelle, Donadieu, Jean
Published in Blood (08.12.2017)

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Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register

by Bellanné-Chantelot, Christine, Clauin, Séverine, Leblanc, Thierry, Cassinat, Bruno, Rodrigues-Lima, Fernando, Beaufils, Sandrine, Vaury, Christelle, Barkaoui, Mohamed, Fenneteau, Odile, Maier-Redelsperger, Micheline, Chomienne, Christine, Donadieu, Jean
Published in Blood (01.06.2004)

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Maturity onset diabetes of the young: clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: a single center experience: MODY and transplantation

Maturity onset diabetes of the young: clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: a single center experience: MODY and transplantation

by Poitou, Caroline, Francois, Hélène, Bellanne-Chantelot, Christine, Noel, Christian, Jacquet, Antoine, Clauin, Séverine, Beaudreuil, Séverine, Damieri, Hani, Hebibi, Hadia, Hammoudi, Yacine, Benoit, Gérard, Charpentier, Bernard, Durrbach, Antoine
Published in Transplant international (01.05.2012)

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Large Genomic Rearrangements in the Hepatocyte Nuclear Factor-1[beta] (TCF2) Gene Are the Most Frequent Cause of Maturity-Onset Diabetes of the Young Type 5

Large Genomic Rearrangements in the Hepatocyte Nuclear Factor-1[beta] (TCF2) Gene Are the Most Frequent Cause of Maturity-Onset Diabetes of the Young Type 5

by Bellanné-Chantelot, Christine, Clauin, Séverine, Chauveau, Dominique, Collin, Philippe
Published in Diabetes (New York, N.Y.) (01.11.2005)

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Exonic duplication of the hepatocyte nuclear factor-1beta gene (transcription factor 2, hepatic) as a cause of maturity onset diabetes of the young type 5

Exonic duplication of the hepatocyte nuclear factor-1beta gene (transcription factor 2, hepatic) as a cause of maturity onset diabetes of the young type 5

by Carette, Claire, Vaury, Christelle, Barthélémy, Anne, Clauin, Séverine, Grünfeld, Jean-Pierre, Timsit, José, Bellanné-Chantelot, Christine
Published in The journal of clinical endocrinology and metabolism (01.07.2007)

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