ESPE Abstracts Search

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Showing page 1 of results 1 - 10 of about 11 pages

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Partial Restoration of Biological Effects of Estrogen in a Female with Estrogen Receptor [alpha] Variant | ESPE2018
Eva Feigerlova; Henrik Laurell; Herve Mittre; Marie-Laure Kottler; Marc Deshayes; Patrick Balaguer; William Bourget; Jean-Franco
http://abstracts.eurospe.org/hrp/0089/hrp0089fc8.2.htm
Published: 2018-08-28

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Thyrotoxicosis, Nephrogenic Syndrome of Inappropriate Antidiuresis, Tall Stature and Mental Retardation Caused by a Novel GNAS Gain of Function Mutation | ESPE2016
Muriel Houang; Marie-Laure Kottler; Albert Bensman; Jean-Philippe Haymann; Nicolas Richard; Olivier Dunand; Murate Bastepe; Caro
http://abstracts.eurospe.org/hrp/0086/hrp0086p1-p688.htm
Published: 2016-08-19

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Two French Families with Vitamin D Dependency Rickets Type 1B Harbor Homozygous Recessive Expression Of CYP2R1 Mutations L99P and G42_L46DEL INSR | ESPE2016
Arnaud Molin; Francois Feillet; Nick Demers; Arnaud Wiedemann; S Brennan; Martin Kaufmann; Glenville Jones; Marie Laure Kottler
http://abstracts.eurospe.org/hrp/0086/hrp0086p1-p124.htm
Published: 2016-08-19

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A Novel Homozygous Mutation in the Domain AF-2 of Alpha Estrogen Receptor Gene (ESR1), Generating a Bio-Inactive ER[alpha] Mutant, Resulting in Estrogen Resistance with Complex Metabolic Phenotype | ESPE2016
Eva Feigerlova; Henrik Laurell; Herve Mittre; Marie-Laure Kottler; Marc Deshayes; Patrick Balaguyer; Jean-Francois Arnal; Richar
http://abstracts.eurospe.org/hrp/0086/hrp0086rfc15.1.htm
Published: 2016-08-19

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Paternal Loss-of-Function Mutations of GNAS and Growth Retardation in a Mice Model: A Specific Placental Transcriptomic Signature? | ESPE2016
Lea Chantal Tran; Celine Ballandone; Daniel Vaiman; Sandrine Barbaux; Nicolas Richard; Marie-Laure Kottler
http://abstracts.eurospe.org/hrp/0086/hrp0086rfc10.1.htm
Published: 2016-08-19

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Final Heights and BMI in Patients Affected with Different Types of Pseudohypoparathyroidism | ESPE2016
Patrick Hanna; Giovanna Mantovani; Virginie Grybek; Harald Juppner; Anne-Claire Brehin; Marie-Laure Kottler; Anya Rothenbuhler;
http://abstracts.eurospe.org/hrp/0086/hrp0086rfc2.8.htm
Published: 2016-08-19

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Effect of Paternal Loss-of-Function Mutations of GNAS on Growth During the Childhood: A Role for XL | ESPE2016
Lea Chantal Tran; Anne-Claire Brehin; Nicolas Richard; Marie-Laure Kottler
http://abstracts.eurospe.org/hrp/0086/hrp0086rfc2.7.htm
Published: 2016-08-19

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Genotype-Phenotype Relationship in Patients with SHOX Region Rearrangements Detected by MLPA in the French Population | ESPE2014
Julie Auger; Amandine Baptiste; Gaelle Thierry; Jean-Marc Costa; Melanie Amouyal; Marie-Laure Kottler; Renaud Touraine; Marine L
http://abstracts.eurospe.org/hrp/0082/hrp0082p1-d1-145.htm
Published: 2014-08-28

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Paternal Isodisomy and Sporadic Pseudohypoparathyroidism I-b | ESPE2014
Cindy Colson; Anne Claire Brehin; Genevieve Abeguile; Matthieu Decamp; Nicolas Richard; Marie-Laure Kottler
http://abstracts.eurospe.org/hrp/0082/hrp0082p1-d3-48.htm
Published: 2014-08-28

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Loss of Function CYP24A1 Mutations in Patients with Hypercalcemia and Low Pth level: an Autosomal Dominant or Recessive Trait? | ESPE2014
Arnaud Molin; Roseline Baudouin; Nadia Coudray; Marie-Lucille Figueres; Glennville Jones; Marie-Laure Kottler
http://abstracts.eurospe.org/hrp/0082/hrp0082p1-d3-46.htm
Published: 2014-08-28